Power of 3

Mario Shields Photo by David Cardona-Jimenez

By Daniel Dunaief

Friend or foe? The question isn’t as easy in the world of molecular biology as it might be after captains pick players for a team.

An important biomolecule in one context could trigger the growth or spread of cancer, while in another system or organ, that same signal might suppress or stop the development or growth of a disease that can threaten people’s health.

So it is for G-proteins, which, in some tumors, serve as tumorigenic signaling hubs that participate in invasion and metastasis and promote inflammation and immune evasion.

In tumors “there was this notion that it works in a certain way, driving tumor development and progression,” said Mario Shields, Associate Professor of Research Pathology at Stony Brook University. “We had that original hypothesis when we investigated it in pancreatic cancer. We found that it’s the opposite.”

Indeed, when the specific proteins he studies, called G alpha 13, are absent, mouse models develop well-differentiated tumors that reduce their survival.

“My research now is to understand why it’s playing the opposite role that we initially expected,” Shields, who joined Stony Brook in July after six years at Northwestern University.

Having worked at Cold Spring Harbor Laboratory in the lab of Mikala Egeblad from 2012 to 2018, Shields is returning to the Long Island area with a focus on defeating a problematic type of cancer that steals precious time from people and robs families of important members.

“I have come to appreciate the dire situation of people who are diagnosed with pancreatic cancer,” Shields said. “We need to figure out how to lower the curve.”

A recipient of the National Cancer Institute’s Moonshot Award, Shields is one of the first 11 Cancer Moonshot Scholars who received a total of $5.4 million.

The program, which was launched by the Biden administration in the summer of 2023, seeks to advance cancer science while diversifying the pool of early-stage researchers and approaches to research that NCI funds.

The goal of the program is to inspire and support scientists from diverse backgrounds, including those from underrepresented groups in the biomedical sciences.

The NCI award, which Shields brings with him to Stony Brook, will support his efforts.

Egeblad, who is now Bloomberg Distinguished Professor of Tumor Microenvironment, has stayed in contact with Shields since he left her group. The work he’s doing is “very important” in understanding the “basic mechanism of pancreatic cancer progression” as he has been “very successful in making discoveries and raising funds for his research.”

Egeblad appreciates his contribution to her lab. Shields “was responsible for establishing our research program in pancreatic cancer,” she explained. “Before he joined my lab, I had only worked on breast cancer and [Shields] established the various models to also study pancreatic cancer — models that we are still using.”

Building on CSHL work

At CSHL, Shields worked in Egeblad’s lab and received advice and oversight from David Tuveson, Cancer Center Director at CSHL, who developed the mouse model Shields uses.

Shields has been using human and mouse cell lines to interrogate the mechanism of action of these G proteins in suppressing cancer. 

At Stony Brook, he plans to use patient samples to develop patient-derived tumor specimens.

The major hub of what Shields is studying is the mTOR pathway, which stands for mammalian/ mechanistic target of rapamycin. First isolated in a bacteria on Easter Island in the middle of the 20th century, rapamycin is an immunosuppressant drug.

Any defects that activate the mTOR pathway can lead to the growth and development of cancer.

A developing field

Shields explained that the G protein he is studying, G alpha 13, is a “niche” area right now, with few other labs pursuing the same mechanistic pathway. The G proteins are of more interest to molecular pharmacology and drug design.

In his studies, Shields hopes to use the information on the response to changes in the protein to predict how patients respond to therapy that inhibits the mTOR pathway.

Specifically, he is exploring how alterations in the microenvironment can cause the tumor to progress in pancreatic cancer.

Shields has found some “interesting dependencies” in the mechanism he’s studying. In the first year of work at Stony Brook, he would like to figure out how Ga13 regulates mTOR signaling, as the current context dependency is vague.

The gene that codes for this protein is not heavily mutated. Shields anticipates that a threshold level of the protein may be responsible for conveying its benefit in suppressing cancer, rather than a specific mutational change.

He is eager to explore whether nutrient availability plays a role in cancer progression through the reduction in this G protein. He has exploring that in vitro and is curious how that will translate at the organismal level.

Returning to Long Island

Shields had recently been Research Associate Professor in the Department of Medicine at the Feinberg School of Medicine at Northwestern University.

Having worked at Cold Spring Harbor Laboratory, Shields felt comfortable moving back to the Long Island area.

“Stony Brook is a good place to do research,” said Shields.

Additionally, Shields was impressed with the number of people who had presented their research from Pathology Chair Kenneth Shroyer’s lab at a conference.

“Further discussions [with Shroyer] indicated we have areas of common interest in terms of pancreatic cancer,” Shields added.

Shields appreciates the greenness of Long Island. When he worked at CSHL, he enjoyed walking on trails and enjoyed the variety of fall colors.

Shields brought one person with him from Northwestern and plans to have a lab of about six people.

As for running his lab, Shields plans to “be patient” and to “see where people are coming from and what they are capable of” as he takes on the role of mentor for members of his lab at Stony Brook.

Shields hopes to inspire and encourage under represented groups to pursue careers in science, technology, engineering and math.

Egeblad suggested that Shields is warm and calm, which “helps those entering the field really take to his instruction.” She added she believes he is an inspiration to many young scientists.

Simon Birrer Photo by Andrea Hoffmann

By Daniel Dunaief

When he was young, Simon Birrer asked his parents for a telescope because he wanted to look at objects on mountains and hills.

Simon Birrer.  Photo Studio, Mall of Switzerland

While he was passionate about science and good at math, Birrer didn’t know at the time he’d set his sights much further away than nearby hills or mountains in his professional career.

An Assistant Professor in the department of Astronomy and Physics at Stony Brook University, Birrer uses telescopes that generate data from much further away than nearby hills as he studies the way light from distant galaxies bends through a process called gravitational lensing. He also works to refine a measure of the expansion of the universe.

“All matter (including stars in galaxies) are causing the bending of light,” Birrer explained in an email. “From our images, we can infer that a significant fraction of the lensing has to come from dark (or more accurately: transparent) matter.”

Dark matter describes how a substance of matter that does not interact with any known matter component through a collision or pressure or absorption of light is transparent.

While they can’t see this matter through various types of telescopes, cosmologists like Birrer know it’s there because when it gets massive enough, it creates what Albert Einstein predicted in his theory of relativity, altering spacetime. Dark matter is effectively interacting with visible matter only gravitationally.

Every massive object causes a gravitational effect, Birrer suggested.

When a single concentration of matter occurs, the light of a distant galaxy can produce numerous images of the same object.

Scientists take several approaches to delens the data. They rely on computers to perform ray-tracing simulations to compare predictions with the astronomical images.

The degree of lensing is proportional to the mass of total matter.

Birrer uses statistics and helps draw conclusions about the fundamental nature of the dark matter that alters the trajectory of light as it travels towards Earth.

He conducts simulations and compares a range of data collected from NASA Hubble and the James Webb Space Telescope.

Hubble constant

Beyond gravitational lensing, Birrer also studies and refines the Hubble constant, which describes the expansion rate of the universe. This constant that was first measured by Edwin Hubble in 1929.

“An accurate and precise measurement of the Hubble constant will provide us empirical guidance to questions and answers about the fundamental composition and nature of the universe,” Birrer explained.

During his postdoctoral research at UCLA, Birrer helped develop a new “formalism to measure the expansion history of the universe accounting for all the uncertainty,” Tomasso Treu, a Vice Chair for Astronomy at UCLA and Birrer’s postdoctoral advisor. “These methodological breakthroughs lay the foundation for the work that is being done today to find out what is dark matter and what is dark energy,” which is a force that causes the universe to expand at an accelerating rate.

Treu, who described Birrer as “truly outstanding” and one of the ‘best postdocs I have ever interacted with” in his 25-year career, suggested that his former student was relentless even after impressive work.

Soon after completing a measurement of the constant to two percent precision, Birrer started thinking of a “way to redo the experiment using much weaker theoretical assumptions,” Treu wrote in an email. “This was a very brave thing to do, as the dust had not settled yet on the first measurement and he questioned everything.”

The new approach required considerable effort, patience and dedication.

Birrer was “motivated uniquely by his intellectual honesty and rigor,” Treu added. “He wanted to know the answer and he wanted to know if it was robust to this new approach.”

Indeed, researchers are still executing this new measurement, which means that Treu and others don’t know how the next chapter in this search. This approach will, however, lead to greater confidence in whatever figure they find.

Larger collaborations

Simon Birrer. Photo by Rebecca Ross

Birrer is a part of numerous collaborations that involve scientists from Europe, Asia, and Middle and South America.

He contributes to the Legacy Survey of Space and Time (LSST). A planned 10-year survey of the southern sky, the Vera C. Rubin Observatory is under construction in northern Chile.

The Simonyi Survey Telescope (SST) at the observatory will survey half the sky every three nights. It will provide a movie of that part of the sky for a decade.

The telescope and camera are expected to produce over 5.2 million exposures in a decade. In fewer than two months, a smaller commissioning camera will start collecting the first light. The main camera will start collecting images within a year, while researchers anticipate gathering scientific data in late next year or early in 2026.

The LSST is expected to find more strong gravitational lensing events, and in particular strongly lensed supernovae, than any prior survey.

Birrer is the co-chair of the LSST Strong Lensing Science Collaboration and serves on the Collaboration Council of the LSST Dark Energy Science Collaboration.

Birrer is also a part of the Dark Energy Survey, which was a predecessor to LSST. Researchers completed data taking a few years ago and are analyzing that information.

From mountains to the island

Born and raised in Lucerne, Switzerland, Birrer, who speaks German and the Swiss dialect, French and English, found physics and sociology appealing when he was younger.

“I was interested in how the world works,” he said.

While attending college at ETH Zurich in Switzerland, he became eager to address the numerous unknown questions in cosmology and astrology.

“How little we know about” these fields “dragged me in that direction,” said Birrer.

An avid skier, mountaineer and soccer player, Birrer bikes the five miles back and forth to work from Port Jefferson.

In addition to adding a talented scientist, Stony Brook also brought on board an effective educator.

Birrer is “knowledgeable and caring, patient and at the same time, he knows how to challenge people to achieve their best,” Treu explained. “I am sure he will be a wonderful addition to the faculty and he will play a leading role in training the next generation of scientists.”

In terms of the advice he found particularly helpful in his career, Birrer suggested he needed a nudge to combine his passion for theory with the growing trove of available data. His PhD advisor told him to “touch the data,” he said. The data keeps him humble and provides a reality check.

The friction between thought and data “leads to progress,” Birrer added. “You never know whether the thoughts are ahead of the experiments (data) or whether the experiments are ahead of the thoughts.”

From left, Adrian Krainer and Danilo Segovia with the Breakthrough Prize, which Krainer won in 2018. Photo from Danilo Segovia

By Daniel Dunaief

For many young children, the ideal peanut butter and jelly sandwich doesn’t include any crust, as an accommodating parent will trim off the unwanted parts before packing a lunch for that day.

Similarly, the genetic machinery that takes an RNA blueprint and turns it into proteins includes a so-called “spliceosome,” which cuts out the unwanted bits of genetic material, called introns, and pulls together exons.

Adrian Krainer. Photo from CSHL

When the machinery works correctly, cells produce proteins important in routine metabolism and everyday function. When it doesn’t function correctly, people can contract diseases.

Danilo Segovia, a PhD student at Stony Brook University who has been working in the laboratory of Cold Spring Harbor Laboratory Professor Adrian Krainer for seven years, recently published a study in the Proceedings of the National Academy of Sciences about an important partner, called DDX23, that works with the key protein SRSF1 in the spliceosome.

“We obtained new insights into the splicing process,” said Krainer, who is the co-leader of the Gene Regulation & Inheritance program in the Cancer Center at CSHL. “The spliceosome is clearly important for every gene that has introns and every cell type that can have mutations.”

Krainer’s lab has worked with the regulator protein SRSF1 since 1990. Building on the extensive work he and members of his lab performed, Krainer was able to develop an effective treatment for Spinal Muscular Atrophy, which is a progressive disease that impacts the muscles used for breathing, eating, crawling and walking.

In children with SMA, Krainer created an antisense oligonucleotide, which enables the production of a key protein at a back up gene through more efficient splicing. The treatment, which is one of three on the market, has changed the prognosis for people with SMA.

At this point, the way DDX23 and SRSF1 work together is unclear, but the connection is likely important to prepare the spliceosome to do the important work of reading RNA sequences and assembling proteins.

Needle in a protein haystack

Thanks to the work of Krainer and others, scientists knew that SRSF1 performed an important regulatory role in the spliceosome.

What they didn’t know, however, was how other protein worked together with this regulator to keep the machinery on track.

Danilo Segovia in the lab at Cold Spring Harbor Laboratory. Photo by Constance Burkin/CSHL

Using a new screening technology developed in other labs that enabled Segovia to see proteins that come in proximity with or interact with SRSF1, he came up with a list of 190 potential candidates.

Through a lengthy and detailed set of experiments, Segovia screened around 30 potential proteins that might play a role in the spliceosome.

One experiment after another enabled him to check proteins off the list, the way prospective college students who visit a school that is too hilly, too close to a city, too far from a city, or too cold in the winter do amid an intense selection process.

Then, on Feb. 15 of last year, about six years after he started his work in Krainer’s lab, Segovia had a eureka moment.

“After doing the PhD for so long, you get that result you were waiting for,” Segovia recalled.

The PhD candidate didn’t tell anyone at first because he wanted to be sure the interaction between the proteins was relevant and real.

“Lucky for us, the story makes sense,” Segovia said.

Krainer appreciated Segovia’s perseverance and patience as well as his willingness to help other members of his lab with structural work.

Krainer described Segovia as the “resident structural expert who would help everybody else who needed to get that insight.”

Krainer suggested that each of these factors had been studied separately in the process, without the realization that they work together.

This is the beginning of the story, as numerous questions remain.

“We reported this interaction and now we have to try to understand its implications,” said Krainer. “How is it driving or contributing to splice assembly.”

Other factors also likely play an important role in this process as well.

Krainer explained that Segovia’s workflow allowed him to prioritize interacting proteins for further study. Krainer expects that many of the others on the list are worth further analysis.

At some point, Krainer’s lab or others will also work to crystallize the combination of these proteins as the structure of such units often reveals details about how these pieces function.

Segovia and Krainer worked together with Cold Spring Harbor Laboratory Professor Leemor Joshua-Tor, who does considerably more biochemistry work in her research than the members of Krainer’s lab.

When a cowboy met a witch

A native of Montevideo, Uruguay, Segovia came to Stony Brook in part because he was conducting research on the gene P53, which is often mutated in forms of human cancer.

Segovia had read the research of Ute Moll, Endowed Renaissance Professor of Cancer Biology at Stony Brook University, who had conducted important P53 research.

“I really liked the paper she did,” said Segovia. “When I was applying for college in the United States for my PhD, I decided I’m for sure going to apply to Stony Brook.”

Even though Segovia hasn’t met Moll, he has benefited from his journey to Long Island.

During rotations at CSHL, Segovia realized he wanted to work with RNA. He found a scientific connection as well as a cultural one when he discovered that Krainer is from the same city in Uruguay.

Krainer said his lab has had a wide range of international researchers, with as many as 25 countries represented. “The whole institution is like that. People who go into science are naturally curious about a lot of things, including cultures.”

Segovia not only found a productive setting in which to conduct his PhD research, but also met his wife Polona Šafarič Tepeš, a former researcher at Cold Spring Harbor Laboratory who currently works at the Feinstein Institute for Medical Research. Tepeš is originally from Slovenia.

The couple met at a Halloween party, where Segovia came as a cowboy and Tepeš dressed as a witch. They eloped on November 6, 2020 and were the first couple married after the Covid lockdown at the town hall in Portland, Maine.

Outside of the lab, Segovia enjoys playing the clarinet, which he has been doing since he was 11.

As for science, Segovia grew up enjoying superhero movies that involve mutations and had considered careers as a musician, scientist or detective.

“Science is universal,” he said. “You can work wherever you want in the world. I knew I wanted to travel, so it all worked out.”

As for the next steps, after Segovia defends his thesis in July, he is considering doing post doctoral research or joining a biotechnology company.

Clockwise from top left, Musankwa sanyatiensis leg bones as they were discovered in the ground on Spurwing Island, Lake Kariba, Zimbabwe. Image courtesy of Paul Barrett; Musankwa sanyatiensis fossil bones in situ, after mechanical preparation, and after CT scanning. Image courtesy of Paul Barrett; and an artist reconstruction of Musankwa sanyatiensis showing position of fossil bones (in blue). Rendering by Atashni Moopen

By Daniel Dunaief

The dinosaur family tree has few members in Zimbabwe, as only four fossils have been found in the region.

Kimberley Chapelle

Recently, researchers from several universities, including Kimberley “Kimi” Chapelle, Assistant Professor in the Department of Anatomical Sciences in the Renaissance School of Medicine at Stony Brook University, described a new species of dinosaur from a 210 million year-old fossilized hind leg in the journal Acta Palaeontologica Polonica.

Reconstructing the entire dinosaur from the bones they discovered in Lake Kariba, the scientists, led by Paul Barrett from the Natural History Museum of London, estimated that this plant-eating sauropodomorph weighed about 850 pounds and was among the larger dinosaurs in the late Triassic period.

The first new dinosaur species described in the Mid-Zambezi Basin of Northern Zimbabwe in more than 50 years, the sauropodomorph survived a mass extinction event that wiped out about 76 percent of all terrestrial and marine creatures. The sauropodomoprh group includes animals like the enormous Brontosaurus, which came later in the evolution of the lineage. Chapelle was on the field expedition in 2017 when Barrett noticed the fossil sticking out of the ground.

The discovery was “extremely exciting, as there was a high chance it was going to be something new,” said Chapelle. “It was well-preserved in articulation and we knew the bones came from the same individual.” She participated in the lengthy process that involved excavating the rare find, creating a reconstruction, isolating the bones to look at the structure, describing the fossil and comparing it to other, closely-related dinosaurs to determine where it sits on the family tree.

The researchers named this species Musankwa sanyatiensis, using the name of the houseboat Musankwa on which they lived and worked as they searched for fossils during the dry seasons around the man-made Lake Kariba.

“Musankwa is cool because it’s one of only a handful of dinosaurs from Zimbabwe, a country with amazing fossil resources that have yet to be fully discovered,” explained Jonah Choiniere, a Professor in the Evolutionary Studies Institute at the University of Witwatersrand in Johannesburg South Africa, who served as Chapelle’s PhD advisor. “Because we don’t have any specimens of Musankwa in similar-age rocks in South Africa, it tells us that during the Triassic period there might have been slightly different species groups of dinosaurs in the two countries.”

The Earth looked considerably different when this long-necked dinosaur was searching for its plant meal, as the land masses of the planet were combined in one supercontinent called Pangaea. In that time, Musankwa’s predators likely included meat-eating therapods and crocodile-like reptiles, which are ancestors of modern crocodiles.

Keep your head up

Hunting for fossils in Zimbabwe, which presented an opportunity for this kind of discovery, came with some challenges.

Kimberley Chapelle with Jonah Choiniere at Lake Kariba. Photo from Jonah Choiniere.

For starters, researchers lived aboard the houseboat Munsankwa, whose name in the Tongan dialect means “boy close to marriage.” Lake Kariba, which was created between 1958 and 1963 and is the largest artificial lake and reservoir by volume, gets “really hot in the summer and all you want to do is swim,” said Chapelle.

That, however, is ill-advised, as modern crocodiles roam the waters of the lake so regularly that people stay far from the shoreline.

To combat the heat, Chapelle drank plenty of water, applied regular sunscreen and wore large hats and long sleeves to keep the strong rays of the sun off her skin. Additionally, the researchers worked between morning and afternoon. The scientific expedition had an armed game ranger with them, to keep scientists safe.

“When you’re looking at fossils, you are always looking at the ground,” Chapelle said. At one point, she looked up and saw a hippo about 50 feet from her. “You have to remember to be aware of your surroundings,” she  said.

Field experience

Choiniere, who inspired his former student to consider entering the field when he first arrived at the University of Witwatersrand, saw Chapelle in action when she first did some field work.

Chapelle’s scientific curiosity never faltered, despite some significant field misadventures that included staying in a rotten old farmhouse without plumbing, sleeping in tents in the freezing cold in the backyard of a rural pub, hiking through brambles over the side of a mountain, and touring around Germany eating nothing but stewed cabbage and pork in brown sauce, and staying three to a hostel room to save money.

“In [Chapelle’s] case, there was never any doubt — she loved the field from day one and has never looked back,” Choiniere explained.

Choiniere believes Chapelle has a “unique skillset among paleontologists,” as her talents include math, observations of shape and structure, histology, three-dimensional data processing and field work. Beyond her diverse skills, Choiniere appreciated Chapelle’s time management skills and her pleasant demeanor, which enabled her to greet him with a smile even when he delivered his part later than she anticipated.

A promising LI start

Chapelle, who started working at Stony Brook at the end of January, is enjoying a return to New York. A native of Johannesburg, South Africa, she  had done a postdoctoral fellowship at the American Museum of Natural History in 2021.

A current resident of Rocky Point, Chapelle lives close to the beach. She and her husband Dominic Stratford, an Adjunct Professor at Stony Brook and Archaeologist and Associate Professor at the University of the Witwatersrand in Johannesburg, brought their Australian Shepherd named Shango with them.

A runner who recently completed the Shelter Island 10K and who loves taking pictures, Chapelle, who is the daughter of a doctor, originally thought she’d want to become a veterinarian. When she took a course in her third year of college with Choiniere, she was hooked by the link between evolution and anatomy.

As for the recent paper, Chapelle is pleased that people can read about this newly discovered dinosaur.

“This is years and years of work that gets put into this,” she said. “It also gives us a push to keep finding new things and publishing.”

Luis Medina Faull conducting research on a ship in Venezuela.

By Daniel Dunaief

Typical sampling of ocean water excludes small microplastics which, as it turns out, are much more abundant even than larger pieces.

Luis Medina Faull

That’s the conclusion of a recent paper published in Marine Pollution Bulletin based on research conducted by Luis Medina Faull, Lecturer and IDEA Fellow, Sustainable Climate Justice and Solutions at the School of Marine and Atmospheric Sciences at Stony Brook University.

Using Raman microspectrometry to test ocean waters from the Caribbean to the Arctic, Medina Faull discovered smaller microplastics that were 10 to 100 times more abundant than the larger ones.

“We can’t see these plastics and, until recently, we couldn’t even track the samples,” said Medina Faul. “These small pieces can be easily ingested by marine organisms, such as fish” who translocate them into tissues where humans can consume them. “They are an emerging contaminant in our ocean so we have to be very concerned.”

Microplastics not only harm organisms that live in the ocean, but also create a health threat to humans, appearing in breast milk, heart muscles, blood, and waste products such as feces.

Microplastics can alter cell activity. The threat these particles pose to the environment and human health increases the urgency to understand this contaminant.

At this point, scientists don’t yet know how much of these microplastics fish have consumed although every species studied has evidence of microplastic ingestion.

Plankton nets can find microplastics that are between 300 and 500 micrometers or larger. Medina Faull, however, can detect microplastics that are 1 to 300 micrometers.

In samples taken from the Northeast Coast of Medina Faull’s native Venezuela, the Gulf Stream Current, which includes the Caribbean and Atlantic Ocean and the Pacific Arctic Ocean, the Stony Brook scientist found that the most abundant microplastics were between 1 and 14 micrometers, with 60 percent under 5 micrometers.

His findings exceeded previous combined reports about the abundance of these microplastics by six orders of magnitude.

While the larger particles of microplastics weighs more in the ocean, “it is important to measure the number of particles and their mass,” Medina Faull explained in an email, which will help “to understand the plastic budget in the ocean and the possible ecological or biological impact of these particles.”

The general public, government agencies and the scientific community have become increasingly concerned about microplastics. Medina Faull recently attended the first New York State Microplastics summit organized by the New York Department of Environmental Conservation and the State University of New York at Buffalo. They discussed the kind of microplastics thresholds that could be harmful to humans and the environment.

The challenges of small pieces

The primary ingredient in plastics, which are made from fossil fuels, is carbon, constituting about 70 to 90 percent of the material that creates packaging, coverings, wraps and other products.

Luis Medina Faull conducting research on a ship in Venezuela.

Determining the origin and content of these microplastics, which are a collection of materials manufactured and sold in different countries, is challenging. Microplastics in the ocean come from mismanagement of solid waste, dumping, fisheries, tourism and other sources.

For the larger pieces of microplastics, which are still exponentially smaller than the eight-inch water bottle that people drink at baseball games and picnics, researchers can determine where the plastic was made.

For the smaller pieces, scientists can link materials to specific activities. Polystyrene is used in floating devices, such as buoys, as well as in fishing, boating and tourism. Polystyrene is also used in food containers and clothing. For these smaller microplastics, scientists have a hard time pointing out the source.

Additionally, smaller microplastics of the kind Medina Faull found in abundance, can contain a mix of particles, suggesting that the ocean contaminant likely came from a recycling process.

“We call them plastics, but there are [numerous] types of materials with different chemical compositions,” he said. These may interact differently with the environment and the oceanic organisms.

At this point, Medina Faull suggested that the majority of the ocean remains undersampled, which makes it difficult to know the concentration and distribution of microplastics.

Microplastics are also distributed in different parts of the ocean, as some of them float at the surface while others sink to the bottom. The process for vertical transport in the water column isn’t well studied.

New plastic producing technology

Some companies are working to develop bioplastic materials. Made from natural polymers or polymers produced by algae or bacteria, these plastics might dissolve more rapidly and provide a safer environmental alternative. These could be photo, bio or chemically degraded faster than synthetic polymers.

As for his own consumer decisions, Medina Faull thinks about ways to reduce his own plastic use regularly.

For starters, he tries to reduce the use of plastics in his own house. He drinks water from the tap and, when he does use plastic, he tries to make sure it’s more than for a single use. 

He urges residents concerned about the use of plastics to buy local products, which not only help the community but also reduce the need for as much plastics for shipping.

When he buys toys for his two-year-old daughter Aila Marina, he tries to make sure they’re manufactured with recycled plastic or wood.

Aerosolized plastics

When microplastics are small enough, they can become aerosolized amid a heavy surf, as the impact of water releases them into the air.

Areas in the Arctic and Antarctic have now found evidence of microplastics that were carried by the wind.

“We know that they are part of these complex transfer mechanisms in the ocean,” said Medina Faull.

A native of Margarita Island, Venezuela, Medina Faull spent considerable time growing up in and around water. He grew up going to the beach, surfing, scuba diving, and spearfishing.

Medina Faull and his wife Elizabeth Suter, who is also a marine scientist and works at Molloy University in Rockville Centre, live in Long Beach with their daughter.

When he’s not on, near or studying the water, Medina Faull appreciates the opportunity to create objects in his own woodworking shop. He has made furniture for his office, a toy chest for his daughter and picture frames.

As for the message from his work, Medina Faull believes any contamination is cause for concern.

“We need to be aware” of microplastics, he said. There are “so many things we don’t understand yet.”

For consumers, he urges people to be careful about what they are buying and consider ways to reduce plastics.

A humpback whale with propeller scars in inshore waters of the New York Bight. A humpback whale surface feeding in inshore waters of the New York Bight. Image taken under NOAA Permit No 26260. Credit: Thorne Lab, Stony Brook University

By Daniel Dunaief

Concerns about the connection between offshore wind farms and whales strandings are likely just a lot of hot air.

Pictured from left, Lesley Thorne with lab membersChelsi Napoli, PhD candidate; Nathan Hirtle, PhD candidate; and Josh Meza-Fidalgo, Research Associate.

In a recent study published in the journal Conservation Biology, Lesley Thorne, Associate Professor in the School of Marine and Atmospheric Sciences at Stony Brook University, and David Wiley, Research Coordinator for NOAA’s Stellwagen Bank National Marine Sanctuary, pointed to vessel strikes as an important driver of the increase in humpback whale strandings.

To address concerns about whether the development of offshore wind farms led to the death of these cetaceans, Thorne and Wiley compared the distribution and timing of humpbacks between 1995 and 2022 relative to anthropogenic factors, such as vessel strikes and entanglement in fishing gear, as well as elements associated with wind farm development.

“We know that there is a narrative out there suggesting that the surveys used for site assessment and characterization are factors” in these whale strandings, said Thorne. “Studying strandings, mortalities and injuries of large whales is important as it can provide information” about the relative impact of different threats.

The researchers found that New York and Virginia were hotspots of mortalities and serious injuries, with a subset of strandings confirming that vessel strikes were the cause of serious injuries or death.

A number of parts likely played a role. Beginning in 2016, vessel traffic in New York and New Jersey increased at the same time that observers noticed an increase in humpback whales.

These whales have also expanded into new foraging areas in recent years, regularly using inshore New York waters as a foraging ground starting around 2011.

The increase in the population of menhaden, which are a fatty, energy-rich forage fish, in the mid 2010s also expanded humpback whale feeding ground.

Menhaden tend to form dense surface schools in shallow coastal waters in mid-Atlantic states such as New York. These cetaceans often use surface foraging behavior to feed on menhaden, which could make them more vulnerable to vessel strikes.

Understanding and appreciating the causes of these strandings could lead to informed decision-making, in developing offshore wind farms and in creating responsible regulations for various vessels around the time whales might be foraging.

Wind farm activity

During the time these scientists studied humpback whale strandings, seven wind turbines were constructed and then operational. 

Looking at humpback strandings, the highest number of strandings in Rhode Island and neighboring states during the unusual mortality event occurred in years following construction, including 2017 and 2022, and not in the year when construction occurred. 

In Virginia, the highest number happened years before construction.

Their assessment of these patterns did not suggest a link between strandings and site assessment and characterization surveys for offshore wind development. Survey authorizations increased over the course of the unusual mortality events and primarily occurred between New Jersey and Massachusetts, whereas elevated patterns of strandings did not follow this pattern.

In the year 2016, Massachusetts had one survey authorization related to offshore wind.  Massachusetts, however, showed a lower number of strandings relative to other years, while the area from North Carolina to Rhode Island had higher strandings.

Thorne and Wiley are not involved in the stranding response. They used the data from the National Marine Mammal Strandings Database, which provides standardized data on marine mammals strandings collected by strandings responders.

They studied changes in the location and timing of humpback whale strandings, and of humpback whale mortalities and serious injuries that were caused by vessel strikes and entanglements.

To be sure, Thorne emphasized that their study focused on humpback whales, which are the species that strand most frequently. Other large whale species have different distributions, foraging and habitat preferences, which clouds the picture for any broader analysis.

Vessel strikes

The biggest increases in strandings occurred from Rhode Island to Virginia.

In the waters near New York and Virginia, strandings had some of the highest increases. Stranding responders confirmed the prominent role of vessel strikes in mortalities and serious injuries near these states.

As for the whales, they have also changed their spring and summer feeding ranges. Until more recently, the southern feeding range extended much further north, to the Gulf of Maine as well as areas farther north, such as Iceland and Greenland.

While humpbacks have foraged in New York waters periodically in the past, they have been consistently feeding in these waters during the summer since 2011.

The whales are following one of their food sources, as the population of menhaden has increased off the south shore of Long Island and in other mid Atlantic states.

Juveniles have also used the waters off the coast of Virginia as a supplemental feeding ground.

“We know that vessel strikes, along with entanglement in fishing gear, are the major threats to large whales around the world,” said Thorne.

When boats are moving more rapidly and whales are feeding in regions with a higher density of vessel traffic, such mortality events are more likely.

Possible solutions

For starters, the scientists urge further study to add to the body of research, including a more thorough understanding of the movements and habitat use of humpbacks and other large whales. 

Additionally, assessing the abundance and distribution of prey species will contribute to an understanding of habitat use and the health of large whales.

She also suggested further work to analyze feeding and feeding in shallow coastal habitats with the risk of vessel strikes.

Slowing ships down reduces the risk from a vessel strike.

“There’s a lot of interest in how we can better use dynamic management instead of management that is focused on fixed areas and times,” said Thorne.

Benjamin Cowley. Photo courtesy of CSHL Communications

By Daniel Dunaief

Most behaviors involve a combination of cues and reactions. That’s as true for humans awaiting a response to a gesture like buying flowers as it is for a male fruit fly watching for visual cues from a female during courtship. 

The process is often a combination of behaviors and signals, which the visual system often processes as a way of determining the next move in a courtship ritual.

At Cold Spring Harbor Laboratory, Assistant Professor Benjamin Cowley recently published research in the prestigious journal Nature in which he used a so-called deep neural network to mirror the neurons involved in a male fly’s vision as it interacts with a potential female mate.

Working with a deep neural network that reflects the fly’s nerve cells, Cowley created a knockout training process, in which he altered one set of neurons in the model at a time and determined their effect on the model and, with partners who conduct experiments with flies, on the flies themselves.

Cowley’s lab group, which includes from left to right, Rabia Gondur, computational research assistant, Filip Vercuysse, postdoctoral researcher, Benjamin Cowley, and Yaman Thapa, graduate student. Photo by Sue Weil-Kazzaz, CSHl Commnications.

Cowley worked closely with his former colleagues at the Princeton Neuroscience Institute, including Professor Jonathan Pillow and Professor Mala Murthy. His collaborators genetically silenced a fruit fly’s neuron type, observing the changes in behavior. Cowley, meanwhile, trained his deep neural network on this silenced behavior while also “knocking out” model neurons, teaching the model by perturbing it in a similar way to the changes in the fruit fly circuitry.

This approach proved effective, enhancing the ability of these models not only to understand the wiring involved in processing visual information and translating that into behavior, but also to provide potential clues in future experiments about similar cellular dysfunction that could be involved in visual problems for humans.

What researchers can infer about the human visual system is limited because it has hundreds of millions of neurons. The field has taken decades to build artificial visual systems that recognize objects in images. The systems are complex, containing millions of parameters that make them as difficult to explain as the brain itself.

The fly visual system, which is the dominant focus of the fly’s brain, occupying about 70 percent of its 130,000 neurons, provides a model system that could reveal details about how these systems work. By comparison, the human retina has 100 million neurons.

“To build a better artificial visual system, we need to know the underlying mechanisms,” which could start with the fly, Cowley said. “That’s why the fruit fly is so amenable.”

Researchers need to know the step-by-step computations going from an image to neural response and, eventually, behavior. They can use these same computations in the artificial visual system.

‘A suite of tools’

The fly’s visual system is still robust and capable, contributing to a range of behaviors from courtship to aggression to foraging for food and navigating on a surface or through the air as it flies.

The fly “gives us a whole suite of tools we can use to dissect these circuits,” Cowley said.

The fly visual system looks similar to what the human eye has, albeit through fewer neurons and circuits. The fruit fly visual system has strong similarities to the early processing of the human visual system, from the human eye to the thalamus, before it reaches the visual cortex in the occipital lobe.

Interpreting the visual system for the fly will “help us in understanding disorders and diseases in human visual systems,” Cowley said. “Blindness, for the most part, occurs in the retina.”

Blindness may have many causes; a large part of them affect the retina and optic nerve. This could include macular degeneration, cataracts, diabetic retinopathy and glaucoma.

In its own right, understanding the way the visual processing system works in the fly could also prove beneficial in reacting to the threat of invasive species like mosquitoes, which pass along diseases such as malaria to humans.

Visual channels

Anatomists had mapped the fly’s 50 visual channels, called optical glomeruli. In the past decade, researchers have started to record from them. Except in limited cases, such as for escape reflex behaviors, it was unknown what each channel encoded.

Cowley started the research while a postdoctoral researcher at Princeton Neuroscience Institute in Jonathan Pillow’s lab and finished the work while he was starting his own lab at CSHL. Mala Murthy’s lab, who is also at Princeton, performed the silencing experiments on fruit flies, while Cowley modeled the data.

Through hundreds of interactions between the flies in which some part of the fly’s visual system was silenced, Cowley created a model that predicted neuronal response and the behavior of the fly.

The deep neural network model he used deploys a new, flexible algorithm that can learn its rules based on data. This approach can be particularly helpful in situations when researchers have the tools to perturb the system, but they can’t recover or observe every working part.

In some of the experiments, the males became super courters, continuing to engage in courtship activities for 30 minutes, which, given that the fly lives only three weeks, is akin to a date that lasts 25 days.

It is unclear why these flies become super courters. The scientists speculate that silencing a neuron type may keep the male from being distracted by other visual features.

In the experimental part of the experiments, the researchers, including Dr. Adam Calhoun and Nivedita Rangarajan, who both work in Murthy’s lab, tried to control for as many variables as possible, keeping the temperature at 72 degrees throughout the experiment.

“These flies live in nature, they are encountering so much more” than another fly for potential courtship, said Cowley, including the search for food and water.

This research addressed one small part of a behavioral repertoire that reveals details about the way the fly’s visual system works.

A resident of Huntington, Cowley grew up in West Virginia and completed his undergraduate work and PhD at Carnegie Mellon in Pittsburgh.

An avid chess player, which is a field that has included artificial intelligence, Cowley, who spent much of his life in a city, appreciates having a backyard. He has learned to do some landscaping and gardening.

Cowley had been interested in robotics in college, until he listened to some lectures about neuroscience.

As for the next steps in his work, Cowley hopes to add more complex information to his computational system, suppressing combinations of cells to gather a more complete understanding of a complex system in action.

From left, Nilanjan Chakraborty, Associate Professor in Mechanical Engineering at SBU and IV Ramakrishnan, Professor of Computer Science, demonstrate how CART could hold a cup and move its arm. Photo by John Griffin/SBU

By Daniel Dunaief

Caretakers of those with Amyotrophic Lateral Sclerosis (or “Lou Gehrig’s disease”) have an enormous responsibility, particularly as the disease progresses. People in the latter stages of the disease can require around-the-clock care with everything from moving their limbs to providing sustenance.

IV Ramakrishnan, Professor of Computer Science and an Associate Dean in the College of Engineering and Applied Sciences at Stony Brook University, recently received a $1.5 million grant from the U.S. Army to lead a team that is building a Caregiving Robot Assistant, or CART, for ALS patients and their caregivers. 

The grant, which is for three years, will cover the cost of building, testing and refining a robot that a caregiver can help train and that can provide a helping hand in challenging circumstances.

Using off the shelf robot parts, Ramakrishnan envisions CART as a robotic arm on a mobile base, which can move around and, ultimately, help feed someone, get them some water and help them drink or open and close a door. They are also developing a special gripper that would allow the robotic arm to switch a channel on a TV or move a phone closer.

In working through the grant process, Ramakrishnan emphasized the ability of the robot, which can learn and respond through artificial intelligence programs he will create, to take care of a patient and offer help to meet the needs of people and their caregivers who are battling a progressive disease.

“As the needs evolve, the caregiver can show the robot” how to perform new tasks, Ramakrishnan said.

The project includes collaborators in Computer Science, Mechanical Engineering, Nursing, the Renaissance School of Medicine, and clinical and support staff from the Christopher Pendergast ALS Center of Excellence in the Neuroscience Institute at Stony Brook Medicine.

At this point, Ramakrishnan and his team have sent out fliers to recruit patients and caregivers to understand the physical challenges of daily living. 

Ramakrishnan would like to know “what are the kinds of tasks we should be doing,” he said, which will be different in the stages of the disease. They know what kinds of tasks the robot can do within limits. It can’t lift and move a heavy load.

Once the team chooses the tasks the robot can perform, they can try to program and test them in the lab, with the help of therapists and students from the nursing school.

After they develop the hardware and software to accomplish a set of actions, the team will recruit about a dozen patients who will test the robot for one to two weeks. Members of the ALS community interested in the project can reach out to Ramakrishnan by email.

A biostatistician will be a part of that group, monitoring and calculating the success rate.

At this point, the development and testing of the robot represents a pilot study. After the group has proven it can work, they plan to submit a follow up proposal and, eventually, to apply for approval from the Food and Drug Administration.

Ramakrishnan estimates the robot will cost around $30,000, which is about the same cost as a motorized wheelchair. He is unsure whether Medicare will cover this expense.

As a part of the development, Ramakrishnan recognizes that the first goal, similar to the Hippocratic Oath doctors take, is to do no harm. He and his team are incorporating safety features that make the robot withdraw automatically if it gets too close to someone.

A key part of the team

Members of the CART team: Vibha Mullick, and her husband, ALS patient Anuraag Mullick, are in the center. Back row, from left: Clare Whitney, Nilanjan Chakraborty, Theresa Imperato, C.R. Ramakrishnan, and Wei Zhu. Front row, from left, are Maria Milazzo and I.V. Ramakrishnan. Photo by John Griffin

Vibha Mullick, a Senior Web and Database Analyst in Computer Science and resident of South Setauket, will be a key team member on the project.

Mullick has been caring for her husband Anuraag Mullick, who is 64 and was diagnosed with ALS in 2016. Anuraag Mullick is confined to a wheelchair where he can’t swallow or breathe on his own.

“My husband also wants to participate” in the development, said Mullick, who spends considerable time reading his lips.

Caring for her husband is a full-time job. She said she can’t leave him alone for more than five or 10 minutes, as she has to suction out saliva he can’t swallow and that would cause him to choke. When she’s at work, a nurse takes care of him. At night, if she can’t get a nurse, she remains on call.

If her husband, who is in the last stage of ALS, needs to turn at night, use the bathroom or needs anything he makes a clicking sound, which wakes her up so she can tend to his needs.

 “It tires me out,” Mullick said. In addition, she struggles to take care of typical household chores, which means she can’t always do the dishes or wash the laundry. She suggested a robot could help caregivers as well as ALS patients.

In the earlier stages of ALS, people can have issues with falling. Mullick suggests a robot could steady the person so they can walk. She has shared the news about the project with other members of the ALS community.

“They are excited about it and encouraged,” she said. 

Origin of the project

The idea for this effort started with a meeting between Ramakrishnan and the late Brooke Ellison, a well-known and much beloved Associate Professor at Stony Brook University who didn’t allow a paralyzing car accident to keep her from inspiring, educating and advocating for people with disabilities.

Encouraged by SBU Distinguished Professor Miriam Rafailovich, who was a friend of Ellison’s, Ramakrishnan met with Ellison, whose mother Jean spent years working tirelessly by her side when she earned a degree at Harvard and worked at Stony Brook.

Ramakrishnan, who developed assistive computer interactions technologies for people with vision impairments, asked Ellison what a robot arm could do for her and mean for her. 

He recalled Ellison telling him that a robot arm would “transform my life,” by helping feed her, set her hair, or even scratch an itch.

“That moved me a lot,” said Ramakrishnan.

While CART will work with one population of patients, it could become a useful tool for patients and their caregivers in other circumstances, possibly as a nursing assistant or for aging in place.

Road to Stony Brook

Ramakrishnan, who is a resident of East Setauket, was born in Southern Tamil Nadu in India and attended high school in what was then called Bombay and is now Mumbai.

He earned his undergraduate degree from the Indian Institute of Technology and his PhD from the University of Texas at Austin.

Ramakrishnan is married to Pramila Venkateswaran, an award-winning poet and is retiring this summer after 33 years as a Professor of English at Nassau Community College. The couple has two grown children, Aditi Ramakrishnan, who is a physician scientist at the Washington University in St. Louis and Amrita Mitchell-Krishnan, who is a clinical pediatric psychologist.

As for the work on CART, Ramakrishnan is eager to help patients and caregivers. The ultimate goal is to “reduce the caregiving burden,” he said.

Camila dos Santos Photo courtesy of CSHL

By Daniel Dunaief

People often think of and study systems or organs in the body as discrete units. 

In a healthy human body, however, these organs and systems work together, sometimes producing signals that affect other areas.

Recently, Cold Spring Harbor Laboratory Associate Professor Camila dos Santos and graduate students Samantha Henry and Steven Lewis, along with former postdoctoral researcher Samantha Cyrill, published a study in the journal Nature Communications that showed a link in a mouse model between persistent bacterial urinary tract infections and changes in breast tissue.

The study provides information about how a response in one area of the body could affect another far from an infection and could provide women with the kind of information that could inform the way they monitor their health.

To be sure, dos Santos and her graduate students didn’t study the processes in humans, which could be different than they are in mice.

Indeed, they are in the process of establishing clinical studies to check if UTIs in women drive breast alterations.

The body’s response

In this research, the scientists demonstrated that an unresolved urinary tract infection itself wasn’t causing changes in breast tissue, but that the body’s reaction to the presence of the bacteria triggered these changes.

By treating the urinary tract infections, Henry and Lewis showed that breast cells returned to their normal state.

Further, when they didn’t treat the UTI but blocked the molecule TIMP1, which causes collagen deposits and milk duct enlargements, the breast cells returned to their normal state.

The TIMP1 role is “probably the main eureka moment,” said Lewis, who is an MD/ PhD student at Stony Brook University. “It explains how an infection in the bladder can change a faraway tissue.”

Lewis suggested that collagen, among other factors, changes the density of breast tissue. When women get a mammography, doctors are looking for changes in the density of their breasts.

Taking a step back from the link, these graduate students and dos Santos considered whether changes in the breast tissue during an infection could provide an evolutionary benefit.

“From an evolutionary standpoint, there should be some adaptive advantage,” suggested Henry, who is earning her PhD in genetics at Stony Brook University and will defend her thesis in July. Speculating on what this might be, she suggested the mammary gland might change in response to an infection to protect milk production during lactation, enabling a mother to feed her young.

Epidemiological studies

A link between persistent UTIs and breast cancer could show up in epidemiological studies.

Dos Santos and collaborators are exploring such questions in the context of European data and are working with US collaborators to collect this information.

In addition, dos Santos believes women should consider how other ongoing threats to their overall health impact their bodies. Women with clinical depression, for example, have worse prognoses in terms of disease. Humans have health threats beyond UTIs that could predispose them to developing cancer, dos Santos said.

Division of labor

Henry and Lewis took over a study that Samantha Cyrill, the third co-first author on the paper started. When Cyrill finished her postdoctoral work, Henry and Lewis “put on their capes and said, ‘We are going to take this to the end line.’ They are incredible people,” said dos Santos.

They each contributed to the considerable work involved.

Henry primarily analyzed the single cell RNA sequencing data, specifically identifying changes in the epithelial compartment. Gina Jones, a visiting CSHL undergraduate research program student, and Lewis also contributed to this.

Henry also participated in TIMP1 neutralizing antibody treatment in post-lactation involution mice, contributing to tissue collection and staining.

Working with Cyrill and Henry, Lewis contributed to the mouse work, including experiments like neutralizing TIMP1 and CSF3. Lewis also worked with Cyrill on the UTI infections in the animals and with Henry in processing tissues for single cell RNA sequencing and assisted Henry on the sequencing analysis.

While this result is compelling and offers an opportunity to study how an infection in an area of the body can trigger changes in another, dos Santos recognized the inherent risk in a new project and direction that could have either been disconnected or a been a dead end.

“It was an incredible risk,” said dos Santos. She was rejected from at least four different funding opportunities because the research is “so out there,” she said. She tapped into foundations and to CSHL for support.

Back stories

A resident of Brooklyn, Lewis was born in Queens and raised in Scarsdale. He joined the dos Santos lab in March of 2021. One of the appeals of the dos Santos lab was that he wanted to understand how life history events drive disease, especially breast cancer.

A big Mets fan, Lewis, whose current favorite payer is Pete Alonso, is planning to run his third marathon this fall.

Lewis is dating Sofia Manfredi, who writes for Last Week Tonight with John Oliver and accepted an Emmy award on behalf of the staff.

Lewis considers himself Manfredi’s “biggest cheerleader,” while he appreciates how well she listens to him and asks important questions about his work.

As for Henry, she grew up in Greenport. She joined the lab in May of 2020 and is planning to defend her thesis in July.

Her father Joseph Henry owns JR Home Improvements and her mother Christine Thompson worked as a waitress and a bartender in various restaurants.

Henry is married to Owen Roberts, who is a civil engineer and works in the Empire State Building for HNTB as a civil engineer, where he focuses on traffic.

Henry hopes to live in Boston after she graduates. She’s adopted the rooting interests of her husband, who is a fan of Beantown teams, and will support the Bruins and the Celtics. A lifelong Yankees fan, however, Henry, who watched the Bronx Bombers with her father growing up, draws the line at supporting the “Sawx.”

As for the work, Henry and Lewis are excited to see what the lab discovers in the next steps.

“I do think this work is extremely informative, defining a relationship between an infection, UTI, and the mammary gland that has not previously been appreciated,” Henry explained.

“This provides information to the public,” said Henry. “I always think it is worth knowing how different events may impact your body.”

Gabrielle Pouchelon with technician Sam Liebman. Photo by Constance Brukin/CSHL

By Daniel Dunaief

Gabrielle Pouchelon doesn’t need to answer the age-old debate about heredity vs. environment. When it comes to the development of the brain, she’s studying the response both to sensory cues and genetics.

Gabrielle Pouchelon.
Photo courtesy of CSHL

An Assistant Professor who joined Cold Spring Harbor Laboratory in March of 2022, Pouchelon studies the interplay between sensory and neuromodulatory inputs and genetic programs in circuit maturation. She also studies other neuromodulatory inputs, usually associated with states of adulthood, which could control development.

A combination of genetics and environment shapes the way neurons connect in a healthy brain. In people who develop non-neurotypical behaviors, through autism, schizophrenia or other conditions, the development of neurological connections and architecture is likely different.

Researchers have associated genes of susceptibility with schizophrenia and autism spectrum disorders. Scientists believe environmental cues provide the brain with activity that interact with these genetic components.

“We are trying to understand whether we can [intervene] earlier that can have different outcomes at later times,” said Pouchelon. “We are studying ways to intervene with these transient processes and examine whether dysfunctions associated with the disorders are improved.”

During critical periods of development, the brain has a high level of plasticity, where various inputs can alter neurons and their connections. This not only involves building connections, but sometimes breaking them down and rebuilding other ones. As people age, that plasticity decreases, which is why children learn faster than adults in areas such as the acquisition and development of language skills.

While the timing of critical periods is less well-defined in humans and language is a complex function, the ability to learn new languages at a young age reflects the high plasticity of the brain.

Scientists are studying language processes, which are specific to humans, with functional magnetic resonance imaging.

Pouchelon, who isn’t studying language skills, hopes that understanding the architecture of developing brains and how they respond to sensory and neuromodulatory cues could shed light on the studies performed in humans. Since behavioral therapy and pharmaceutical treatments can help children with autism, she believes understanding how external cues affect genetic elements could uncover drug targets to alleviate symptoms of neurodevelopmental disorders at an early age.

Neurons & the environment

From left, technician Sam Liebman, Gabrielle Pouchelon and postdoctoral researcher Dimitri Dumontier. Photo courtesy of Gabrielle Pouchelon

In her lab, which currently includes three researchers but she expects to double within a month, Pouchelon uses sophisticated tools to target not only the effect of the environment, but also to look at the specific neurons that transmit information.

She is trying to “understand at a very precise level what a sensory input means and what are the neurons that integrate that sensory input.”

Sam Liebman, who became a technician in Pouchelon’s lab two years ago after graduating from the University of Vermont, appreciates the work they’re doing and her mentorship.

The lab is “unique and special” because he has that “close relationship” in what is now a smaller lab with Pouchelon, Liebman said.

Growing up in Huntington, Liebman, who hopes to go to graduate school in the fall of 2025, came to Cold Spring Harbor Laboratory for field trips in middle school and high school.

“I idolized this place and this campus,” said Liebman.

Pouchelon has asked for Liebman’s opinion on potential candidates to join the lab, even summer interns.

Fragile X Syndrome

Most of the work Pouchelon conducts is done on animal models. She is mainly studying animals with a mutation linked to Fragile X Syndrome. 

In Fragile X Syndrome, which can affect boys and girls, children can have developmental delays, learning disabilities and social and behavioral problems. Boys, according to the Centers for Disease Control and Prevention, typically have some degree of intellectual disability, while girls can have normal intelligence or some degree of intellectual disability.

Other models for autism exist, such as genetic mutations in the gene Shank3. “We are trying to utilize these models to apply what we understand of development in brains that are healthy and compare them” to the mutated models, Pouchelon explained.

While clinical trials are exploring receptors as drug targets for Fragile X Syndrome, she hopes to find new ones that are selective in early stages of the disease to modify their use depending on the stages of development.

An annoying nerd

Born and raised in Paris, France to a family that showed considerably more artistic talent than she, Pouchelon struggled with games she and her sisters played when they listened to music on the radio and they had to guess the composer.

“I was the one always losing,” said Pouchelon. Her family, including her two older sisters who currently live in France, knew “way more about art and history than I did. I was the nerd scientist.”

When she was young, she was curious and asked a lot of “annoying questions” because she was interested in the “mystery of everything.” In high school, she became interested in the brain.

Pouchelon, who isn’t actively searching for French food but finds the baguettes at the Duck Island Bakery exceptional, lives on the Cold Spring Harbor Laboratory campus with her husband Djeckby “DJ” Joseph, a naturalized American citizen originally from Haiti who works in law enforcement at the VA Hospital in Manhattan, and their two-year old son Theo.

Eager to ensure her son benefits from a multicultural identity, Pouchelon speaks to Theo in French. He also attends on campus day care, where he learns English.

As for the decision to come to Cold Spring Harbor Laboratory, Pouchelon, who conducted her PhD research at the University of Geneva in Switzerland and completed her postdoctoral research at New York University and at Harvard Medical School, is thrilled to discuss her work with the talented and collegial staff at the lab.

Cold Spring Harbor Laboratory, which is known internationally for meetings and courses, is an “exciting place” where scientists conduct cutting edge research.