Jason Graetz’s friends want him to hurry up and build a better mousetrap or, more specifically, a better fuel-cell vehicle. When he socializes, Graetz is often urged to create an automotive alternative, especially as the cost of gas hovers near $4 a gallon.

As the head of the Energy Storage Group in the Sustainable Energy Technologies Department at Brookhaven National Laboratory, Graetz is working on developing fuel cells that use lithium or hydrogen.

“In both cases, we’re developing new materials,” Graetz offered. “The Holy Grail for these projects is developing systems for automotive applications.”

Creating a hydrogen system presents practical problems, including how to store the hydrogen. At room temperature, hydrogen gas is stored in compressed tanks, which take up so much space that they would occupy most of the trunk and part of the back seat in a typical car, Graetz explained.

Storing hydrogen in a solid state, however, provides a potential answer. “Hydrogen goes into metal very much like a sponge,” Graetz offered.

He hopes to find a material that’s lightweight and that might require a storage tank the size of a gas tank.

The key is finding the right material. Graetz has found promising results with aluminum hydride, which is five times better than other options, such as iron titanium hydride, at storing hydrogen.

Getting hydrogen into aluminum “takes extremely high pressure” Graetz said. “We need to come up with a more clever way.”

The recipe is complex and involves introducing another molecule that helps stabilize the aluminum hydride. That molecule, called a ligand, hangs off the aluminum hydride and gives it more stability.

While that procedure works, the process is still a matter of “keeping cost and energy inputs low for each step,” he explained. “It has to be a pretty inexpensive material to be viable.”
Scientists and auto manufacturers are years from using hydrogen in fuel-cell cars, Graetz suggested, but that only increases the need to conduct research now.

Cars that use lithium are further along, although there are still research challenges with them as well.

Tapping into the resources available through BNL, Graetz has been able to put a lithium battery into a synchrotron, which shoots X-rays through the battery as it’s operating. That allows him to see how the lithium changes as it charges and discharges.

“This informs us about how the material is working and how it’s not working,” he explained. “We can see things like where the degradation is occurring.”

He can then return to the lab to synthesize, or create, new materials and make alterations to improve the performance of the battery.

Graetz has used the synchrotron in the manufacture of lithium-related materials to see how different properties of his creations — such as their shape — change when reactions occur at different temperatures and pressures and over different amounts of time.

Using a clear chamber, Graetz can mix lithium with other elements and observe the process.
In a full-size reactor, making these molecules can take a day or two. After the reaction, the scientists may not have the product they sought. With the clear chamber, they can make adjustments to conditions as they’re building these materials.

“Most syntheses are done blind,” Graetz said. “This allows us to see what’s happening in real time and make changes on the fly.”

Graetz’s interest in improving and understanding the materials around him extends beyond the lab. He’s gone a few rounds with his washing machine and drier in the home in Calverton he shares with his wife Ronia and their son, who was born last summer.

And, when he’s not fixing or improving something, Graetz enjoys rowing as a crewmember of a six-man outrigger canoe. The BNL scientist has returned to Hawaii, where he went to high school, for a 42-mile competition with his New York-based friends.

Professionally, he doesn’t need his friends to encourage him to build a better fuel-cell car. He says he feels that urgency when he thinks about his son.

“I feel a certain responsibility for the classic idea of leaving a place as least as good as you found it to the next generation,” he offered. “To do that, I feel we need to transition to more sustainable fuels.”

Rats are not only capable of learning a maze to get to a reward (the coveted cheese, for example), but they also have the ability to process a combination of slow or fast flashes and clicks to learn whether their prize will be on the left or right side of a cage.

Cold Spring Harbor neuroscientist Anne Churchland recently published a paper in the Journal of Neuroscience that shows that rats are capable of putting together combinations of sights and sounds and changing their behavior to fill their rat stomachs.

The results suggest rats may prove to be effective mammalian models for understanding the neuronal circuitry that other mammals (namely, say, humans) use to process information around them and make decisions about courses of action.

“Very little is known about how the brain puts together multisensory information,” Churchland said. “It’s a mystery how neural circuits of the brain make this happen. An animal model can really get at the neural mechanism that underlies multisensory integration.”

While Churchland’s study was a behavioral one — flash the lights, make the sounds and see where the rat goes — she also plans to add electrophysiological data. That means she will study the neurons that are active as a rat combines pieces of information. Neurons are cells that transmit information through chemical and electrical signals.

By looking closely at the responses of rats, she hopes to figure out how these signals come together.

For some people, reacting to and processing a combination of sights and sounds is sometimes “impaired when compared to typically developing peers,” Churchland explained. Some people, for example, struggle when they go into a multisensory environment, like a grocery store.

“If we understand the sensory side more, we’ll be in a better position to treat those aspects of the disorder,” she explained.

Some people with autism spectrum disorders have a hard time interpreting cues such as a tone of voice, body posture, or the look on someone’s face.

Understanding the sensory side of some of these disorders can put scientists and doctors “in a better position to treat” people, Churchland said.

The Cold Spring Harbor neuroscientist works much more on basic research and is not directly involved in clinical applications.

“I hope that our work might inform the ongoing foundation of knowledge that the community is starting to have about autism spectrum disorders,” she expounded.

Some of Churchland’s passion for addressing autism comes from her experience as a camp counselor and as a babysitter, where she took responsibility for a child with autism. While earning her undergraduate degree at Wellesley College, she took courses in child and cognitive development, even as she was earning a degree in math.

After college, she worked at the University of California at San Francisco, where she “fell in love with lab work,” she recalled. “Doing science captured my imagination. The big questions are so exciting.”

Aside from babysitting and camp, Churchland had plenty of opportunities to think about development and, specifically, neuroscience. Her parents, Anne and Paul Churchland, are neuroscientists and philosophers. Indeed, they met in a philosophy class.

“Their enthusiasm for the field was contagious, not just for me, but it inspired many people,” Churchland said. They addressed questions, she explained, such as, how our brains make us who we are, and how we navigate through the world.

She said her parents didn’t encourage her and her brother Mark to pursue careers in neuroscience.

“When we were undergraduates, NIH [National Institutes of Health] funding was at a low level, as it is now,” she explained.

Still, that didn’t keep either her or her brother Mark away, as both of them have now developed careers in experimental neuroscience.

“I feel really lucky to have a family with so many shared interests,” she said. Some day, she hopes to collaborate with her brother, who works at Columbia University.

As for her immediate family, Churchland is married to Michael Brodesky, who works at Bookish in Manhattan, lives at Cold Spring Harbor, and has two children who are in the early stages of primary school.

In her first experience of living in New York, she lauded Long Island for its hiking and biking trails and kayaking opportunities.

Donald Porter was such a childhood fan of Sesame Street that he named his computer lab at Stony Brook OSCAR (for Operating System Security Concurrency and Architecture). His desktop is Kermit and his favorite 48-core test machine is Miss Piggy.

An assistant professor who joined Stony Brook just over a year ago, Porter, like the charming Muppets of his youth, is driven by a desire to teach.

Indeed, his promising research and dedication to teaching recently helped him win a prestigious Career award from the National Science Foundation, which recognizes promising junior faculty members around the country. The NSF will give his lab $400,000 over the course of five years.

“It’s very exciting,” he said. “This will give me funds to hire graduate research assistants, buy computing equipment and do other things that will help me get my research agenda going.”

Porter, who teaches a graduate course on operating systems, said when he explains something to students, it often winds up helping him with his research by forcing him to distill his thoughts.

“If you can’t teach someone else why things are the way they are, it may be hard to make them better in a clear way,” he suggested.

He said his teaching philosophy is to “demystify the computer, so people can really understand what’s going on.”

In a graduate-level operating systems course, he gives students a system developed at MIT in which there are “holes” in a source code. The students have to write the key pieces of the software themselves, including memory management, switching one running program to another, a network-card driver and the file system.

“There is no better way to understand how operating systems perform these central tasks than to write them yourself,” he advocates.

Associate professor Erez Zadok, who has been at Stony Brook for over a decade and has been teaching the popular graduate operating systems course since he arrived, applauded his colleague.

“There’s a small window when you can win this very prestigious award,” Zadok said. “We were delighted to hear he’d won it on the first shot, no less. It’s quite an achievement.”

As for his research, Porter works in an area called cloud computing, where a single computer can use several operating systems at the same time. The technique allows Apple computer users, for example, to run a Windows program at the same time they are also using a Mac operating system.

The process involves sharing resources, software and information. The concept not only allows those who own different hardware to use the software from other computers, but also allows businesses to adjust their technology resources to meet unpredictable demand.

“You can think of the cloud as very cheap, short-term computer rentals,” Porter said. “If you were launching a new product you could temporarily and affordably rent extra servers in the cloud to help meet peak demand for extra orders.”

Porter thinks about ways to divide the labor among the various parts of a computer functioning at the same time. He explained that the numerous systems — the hardware, the operating system, the language system, and the application library, to name a few — work at the same time and may interfere with each other. He wants to look closely at whether there are “better interfaces that make common problems less common.”

Porter hopes his research has a practical impact on industry and on the ways people use and interact with computers.

Porter doesn’t have a statue of Oscar or a puppet in his lab yet. If he needed one, he might borrow something from his wife, Lindsay Porter, a first- and second-grade teacher at Love of Learning Montessori School in Centerport.

“I owe a certain amount of my success to the support of my wife,” Porter acknowledges. “She put up with long hours and flak under deadline and also provided emotional and spiritual support.”

The Porters live in Setauket, an easy ten-minute bike ride to OSCAR and friends at his computer science lab. They moved just over a year ago after he earned his doctorate from the University of Texas at Austin.

“It’s easy to feel like this is home,” offered Porter.

As a child in France, Thomas Cubaud grew up watching rivers, waves in the ocean, tides, and even the vortex that formed as bathwater ran down a drain.

Fast forward to now and the assistant professor at Stony Brook University has turned his passion for understanding the way fluids move and interact with each other into an award-winning developing career in mechanical engineering.

Cubaud works in a field called microfluidics. That means he mixes tiny amounts of different kinds of fluids (often very viscous or thick liquids with less viscous liquids or solvents). In addition to producing magnificent images, he also tries to understand the nature of the way these liquids mix.

Microfluidics is a relatively new science that was developed about 30 years ago. It has applications in a wide range of fields and helped produce such products as inkjet printheads, DNA chips, and microthermal technologies.

While aware of the potential applications of his research, Cubaud is much more focused on understanding the basic properties of mixing.

When researchers like Cubaud mix a very viscous liquid with a solvent in small amounts, they maximize the surface area (or points of contact) between the two liquids. While that could be an advantage in mixing, they also see what’s called laminar flow, where those two liquids form parallel layers and glide past each other, rather than mixing.

Enter viscous buckling. To picture this, take honey from a pantry and pour it on toast. As it comes out of a jar held a few inches above the toast, the honey falls in lines back and forth, looking like coiled rope. If the honey were falling through another thick liquid instead of air, the buckling back and forth would promote turbulent flow (converting the laminar flow — not good for mixing — into turbulent flow — much better for mixing).

One of the goals of Cubaud’s research is to understand the role of different properties, such as viscosity and surface tension, on the flow of fluids on a small scale.

In his experiments, Cubaud varies the speed at which he injects one fluid into another, the pressure and the thickness of the liquids.

Cubaud’s research showed sufficient promise that he recently won the Career Award from the National Science Foundation, which will give him $400,000 over a five-year period.
The award is given to promising young faculty members at universities around the country to support their teaching and research.

“The challenge is to find the best operating condition. We need to do experiments with different materials and new methods to characterize the flows,” he said.

Jon Longtin, an associate professor at Stony Brook and Cubaud’s mentor, sees considerable promise in his junior colleague.

“He is a genuine top-notch scholar,” Longtin said. “When he gets his arms around an idea, he wrestles it to the ground until he figures out exactly what is going on.”

Longtin said microfluidics has become a hot topic in science, which means there is increased competition for funding.

“He has carved out a niche for himself,” Longtin described. “He’s looking at fluids that have disparities in thickness. He found interesting things that happen that are not necessarily obvious. He’s had a lot of success.”

Cubaud’s research also examines a process called carbon sequestration, where carbon dioxide is removed from the air and absorbed into liquids.

“Injecting carbon dioxide gas with liquids in microgeometries permits us to significantly increase the surface area of contact between the fluids,” he said. “The knowledge that will be gained during the project will help frame future carbon sequestration applications.”

Cubaud pointed to a biological system that already uses microscale interactions between gases and liquids: the lungs, where blood gives up carbon dioxide and takes in oxygen.

Microfluidics allows scientists to achieve a basic understanding of new physical interactions, he said.

“A key aspect of miniaturization technology is that, up until recently, we could only observe phenomena,” he said. “Today, not only can we observe, but we can also directly intervene on small-scale mechanisms.”

Echoing the observations of the young boy in France who watched rivers, oceans and whirlpools in a bathtub, Cubaud said: “When you just do an experiment, you find unexpected results. It’s very exciting to see something possibly unexpected occurring.”

One Sunday in the fall of 2010, Alea Mills needed a break from one of her more mundane jobs — writing proposals to get money. She decided to check on her mice.

When she did, she couldn’t contain her excitement. She’d worked with mice for years and yet these were clearly different. She called her husband Ross Maddalena, an actor who doesn’t particularly enjoy visits to her lab — especially during a football Sunday.

“Please, please, please,” she begged. “You have to come. I need somebody else to observe this.”

Maddalena, an extra in movies like “Mr. Popper’s Penguins” and “Salt” who has taken cues from his wife’s career as he followed her from California to Texas to Long Island, drove to her lab at Cold Spring Harbor, where she has conducted research since 2001.

Even without any scientific expertise, Maddalena recognized the changes. Mills had created a mouse model for autism. Using a hand-held video camera, he recorded the mice. Mills said she has watched the movie dozens of times.

A researcher who has made important cancer discoveries, Mills took the unusual step of using her expertise in chromosome engineering — changing the genetic blueprint of an animal — to study autism.

“I saw [autism] as a genetic problem,” Mills said. “We can generate models where we can make the same precise changes as in various diseases.”

By using a form of molecular scissors, Mills took out a 27-gene region on chromosome 16 in mice.

“We didn’t know what to expect,” Mills recalled. “Could we see anything different with respect to the behavior or the brain anatomy of the mice? The answer is yes. Those genes are regulating fundamental processes that are evolutionarily conserved to some degree and are causing the same type of changes.”

Indeed, these genetically altered mice also showed eight regions in their brains that were larger than normal.

Her results, which were published last October in the prestigious journal Proceedings of the National Academy of Sciences, created a buzz in the world of autism research.

At this point, Mills, who is a resident of Lloyd Harbor, is fine-tuning her autism research to look at even smaller areas within that genetic region. She is also looking more closely at the brains of these mice to see if she can connect some of the more severe behaviors to the biggest changes in brain structures.

While extending this research to understanding the development of autism in humans remains a challenge and will require considerably more work, Mills said this could prove an important step in diagnosis and treatment.

People typically show signs of autism at around 2 or 3 years old, Mills said. In mice, Mills and her postdoctoral research fellow Guy Horev can often detect changes in one to two days after birth.

Researchers like Mills need to figure out the mechanism in which these genes might lead to autism and, once they do, work on a potential clinical model to correct it. Mills cautions that there is considerable work left to do to understand the pathways that lead to autism in humans.

While she will continue to oversee autism research, Mills will also direct and conduct studies on cancer, where she discovered Chd5 and p63. Scientists had long sought Chd5, a gene that produces a protein that prevents cancer. Indeed, the amount of Chd5 protein a patient has is a predictor of treatment outcome for cancer patients. The p63 gene, meanwhile, produces some proteins that suppress cancer, while it manufactures others that promote it. The effect of p63 depends on the type of cell.

Perhaps Mills’ upbringing on a 60-acre piece of property in upstate New York made her comfortable looking out to the horizon for answers to a wide range of questions. The only girl in a family of five children, she said she and her siblings “ran rampant.”

At the same time, when Mills was as young as 3, her mother often encouraged her to slow down and look closely at a small piece of grass, where she could study a flower or a worm.

Those days of watching worms brought her to Cold Spring Harbor, where she witnessed the excitement of her own breakthrough with the first mouse model of autism one Sunday in 2010.

Tom Butcher doesn’t just stand around at the water cooler and complain every time he gets a heating oil bill — he’s doing something about it. The head of the Brookhaven National Laboratory’s Energy Resources Division, Butcher is conducting the kind of research he hopes will lower our heating oil bills, create less pollution, and reduce our dependence on foreign oil.

For starters, he is working on ways to displace import petroleum with domestic biodiesel. As it stands now, fuel that heats our homes can have 5 percent biodiesel — or fuel made from substances like soybeans and waste from restaurants. Butcher has his sights set on a much higher target.

“The legal definition of heating oil has changed so that it can have as much as 5 percent biodiesel,” Butcher explained. “Getting that done was a big step. Where our research is focused is on increasing that limit and going well beyond it. From a technology perspective, there are some challenges in doing that.”

Butcher and his colleagues at BNL and his counterparts at Stony Brook have been examining numerous technological hurdles. One of those. Butcher said, is looking at the reliability and safety of existing equipment designed to house oil-based fuels when liquid fuels, including fuels from soybeans and waste oils pass through them.

The “rubbers in a pump shaft may degrade and lead to leaking components,” Butcher said. “The key issue” in raising biofuel content is that there is a “lack of experience in some important areas, including the compatibility of field materials, including elastomers and rubbers,” Butcher said.

Butcher is also interested in examining how to reduce pollution and improve the efficiency of burning wood as a heat source.

“In rural New York state, wood burning is the number one source of air pollution,” he warned. “On the track we’re on, [wood burning] threatens to become a dominant source of air pollution in the Northeast.”

Burning wood is something consumers generally warm to because it “puts people to work and is a renewable energy source,” Butcher described. “A lot of our work is focused on how to burn wood cleanly. How do you develop test methods that can accurately capture the performance of the currently available leading-edge wood conversion combustion technology?”

Butcher is examining the effectiveness of electrostatic precipitators, which use a high-voltage field across the exhaust gas, where captured particles migrate to a wall, fall down and get removed. He is also examining heat exchangers that can be used to condense water vapor from the exhaust gas and wash the particles out.

“If we are going to continue to use wood for heating, this is a road we have to go down,” Butcher insists. “I don’t think we’re going to have a choice.”

The BNL investigator said there are already technologies on the market that are much better than the average pellet burners, some of which keep fuel from smoldering, especially during periods when a house doesn’t need heat. A key to this system is thermal storage, where systems run at their optimal condition and charge the storage. The stored energy can heat the home while the burning system is off.

Butcher and his wife Donna, who works in a dental office and as a real estate agent, have raised four children who have all shown interest in technical fields. Their eldest, Kim, is an aerospace engineer who works for NASA on the technology for future space travel. Matt is working on his Ph.D. in biology at Eastern Virginia Medical School and is focused on heart disease. Jon will complete his doctor of pharmacy degree at Long Island University at the Brooklyn campus in just over a year and is, in the words of his father, “a fanatic fisherman.”

Not to be outdone, Jamie, who worked at BNL last summer on radiation detectors, is at Geneseo and “will undoubtedly develop a career that involves something technical in collaboration with something international.”

As for Tom Butcher, who lives in Port Jefferson with Donna, the common theme for the work he’s tackling now is “given the high price of oil, what do we do?”

Lisa Miller lives a life of extremes. At work, she looks inside brain and bone cells through some of the highest-tech equipment in the country, checking the chemistry of diseases like Alzheimer’s and osteoporosis. In her free time, the Brookhaven National Laboratory’s Associate Division Director climbs mountains, looking out at the world from the planet’s highest peaks.

Using mid-infrared light, Miller, who is in BNL’s Photon Sciences Directorate, has shown that some areas of the brains of people afflicted with Alzheimer’s disease have high amounts of metals like copper and zinc.

“Metals in our body are tightly regulated and are bound to proteins,” Miller explained. On their own, the metals could be “toxic and can kill cells.”

The brains of people who suffer from Alzheimer’s have amyloid plaques, where brain cells are folded over and clumped together. These plaques have high amounts of these metals.
Using the National Synchrotron Light Source (one of only four such Department of Energy funded tools in the country), Miller wanted to examine how the metals might build up in the brains of those with Alzheimer’s.

Because the concentration of iron in the amyloid plaques is ten times higher than normal, the presence of this metal could be an important diagnostic tool.

MRIs and other tools in doctors’ offices can measure the concentration of iron in a person’s brain.

“It’s possible to image patients who don’t have symptoms yet for high iron content,” Miller offered. Miller cautioned that it’s unclear whether there is a direct connection between the presence of these metals and the onset or course of Alzheimer’s disease.

Indeed, the BNL faculty plans to examine the link between copper in the plaques with disease severity. If the presence of metal is an important part of the progression of the disease, it shouldn’t show up in people who have amyloid plaques but don’t have symptoms. Miller is helping to hire scientists and engineers at BNL to build the next generation light source that uses x-ray, ultraviolet and infrared light. The NSLS-ii, which will be complete in March of 2014, will produce x-rays that are more than 10,000 times brighter than the ones from the current NSLS.

“She’s taken an active role in managing the facility,” said Antonio Lanzirotti, a senior research associate at the University of Chicago who collaborated with Miller on her Alzheimer’s studies. “She’s incredibly impressive in terms of her breadth of knowledge. People respect her opinion at the highest level of management.”

In addition to Alzheimer’s, Miller has also used the NSLS to study osteoporosis.
Partnering with biomedical engineer Stefan Judex at Stony Brook University, Miller and her lab have looked at how osteoporosis drugs affect the chemistry and strength of bones.
Fosamax and Actonel “work really well, not only in slowing down the resorption of bone,” she said, but also in helping the body produce “good, quality bone.”

When she’s not studying the chemistry of bones, brains and other tissues, Miller is an enthusiastic backpacker. She has climbed to highest point in 48 of the 50 U.S. states. Last year, she trekked to the top of Mt. Kilimanjaro.

A native of Cleveland, Miller took her first hike when her father “dragged us to the top of Mount St. Helens” when she was in graduate school at the Albert Einstein College of Medicine. Once she got the climbing bug, she couldn’t stop.

Miller believes in helping the next generation of researchers reach its own scientific peaks.
She helped start a new BNL program called Introducing Synchrotrons into the Classroom (called InSynC) that allows high school students to design research studies that use BNL’s synchrotron.

The projects, which go through a competitive review process, give students and teachers a chance to test their ideas using the NSLS. Miller credits her advisors with guiding her career and wants to pass that long.

“I always had good mentors,” she recalls. “If you’re excited about something, you want others to be as well.”

Some people like slamming things together, whether it’s a young child sitting on a floor crashing two matchbox cars into each other or an adult behind the wheel of a bumper car at a fairground.

Gene Van Buren gets to do the same thing, although he’s not using cars. He’s propelling a gold nucleus along a 2.4-mile track at speeds approaching that of light and slamming it into another gold nucleus.

The effects of the collision are more spectacular, albeit on a miniature scale, than watching the bumper pop off a matchbox car. The temperatures in these crashes climb to 4 trillion degrees Celsius. That’s 250,000 times hotter than the temperature in the center of the sun.

“The day when we get to see what [such a collision] looks like on a computer screen, we are all like a bunch of kids,” said Van Buren, an experimental nuclear physicist at Brookhaven National Lab. “It’s so cool. It’s what we’ve been working for for the past decade to do. We remember how exciting this is.”

Besides doing it because they can, nuclear physicists like Van Buren who work at the Relativistic Heavy Ion Collider (RHIC) study the results of those nuclear mash ups to gain a better understanding of the way nature works at very small scales.

When they’ve jammed these tiny particles together, they’ve been able to examine the way smaller ones, like quarks and gluons, interact. Quarks are the building blocks for protons (matter with a positive charge) and neutrons (those with a neutral charge). Gluons, which don’t have mass, serve as the “glue” that holds quarks together.

“From a theoretical calculation, we expected that once you got these gluons and quarks really hot, they wouldn’t want to interact with each other,” he said. Their collisions, however, showed the opposite, that these subatomic particles “still want to stick to each other.”

What that means is that the parts of the nucleus of an atom behave much more like a liquid than a gas. In a gas like air, Van Buren explained, molecules tend to flow freely away from each other. Liquids like water, on the other hand, tend to bind together. That is why water forms droplets when it is spilled.

“For us, this is very exciting because it has implications for the nature” of how these particles behave, “under normal, everyday conditions that we don’t necessarily observe from our perspective of everyday life,” Van Buren said.

At the same time, these experiments may simulate the kinds of conditions that existed during the beginning of the universe, at least according to the big bang theory. At RHIC, colliding these nuclei at such high speeds is similar to making a “little bang.”

The biggest difference, however, is that RHIC doesn’t collide matter with as much “stuff.”
“In the big bang, the universe started out dense and hot with a lot of material and energy. In our case, we have two out of those three” conditions, Van Buren said. “We have the density and heat.”

Still, by examining high temperatures and density, the scientists at RHIC may be able to see “how the universe evolved during that particular epoch.”

Van Buren said down the road, maybe decades of even a hundred years from now, other scientists can use the knowledge he and others are generating at RHIC to engineer new products.

“It was like that with electricity,” he said. “The first people studying it had no idea how this would affect their everyday life. Over 100 years later, look what electricity does. We can learn to engineer things with the knowledge we gain about the universe.”
Physicists like Van Buren are inspired by the first dozen years that RHIC has been operating (its first experiment was in the summer of 2000).

The scientists “have the pioneering spirit of climbing to the top of Mount Everest,” offered Jim Thomas, a visiting physicist from Lawrence Berkeley Lab in California who has worked closely with Van Buren for several years.

In addition to designing collision experiments, Van Buren has helped create computer programs that analyze the results of the collisions.

Van Buren “understands a lot about computers and a ton about physics,” said Thomas. “He’s able to make the physics/ computer connection very nicely.”

If Van Buren ever needs to consult with a computer-programming expert, he doesn’t have to look far. His wife Marie Van Buren, whom he met when he was at graduate school at the Massachusetts Institute of Technology, is a computer programmer at BNL.

The couple met when they joined a volleyball league at MIT. Marie, who is around 5 feet tall, sometimes sets up her 5-foot-10-inch nuclear physicist husband to spike the ball when they are on the same team.

Sports have always been an important part of Van Buren’s life, whether it was soccer in high school, track and racquetball in college or volleyball and, in summer, ultimate frisbee.
Residents of Middle Island, the Van Burens have lived on Long Island since 1998, when Gene did his post-doctoral work for UCLA at Brookhaven National Lab.

As for his research, Van Buren said his primary goal is “pure research,” in which the end result is knowledge, not a product. The basic knowledge of nuclear physics may one day pave “the way for new developments that perhaps no one today can dream.”

When their son Dylan was under a year old, Debbie and Ron Cuevas noticed he couldn’t support his head and had trouble rolling over. They brought him to a pediatrician, who diagnosed Dylan with spinal muscular atrophy.

The doctor said he likely had two years to live. Determined to make every day count, the Cuevas family of Rockville Centre has rallied around their son, who is now 8 and in third grade.

A genetic disease with varying severity that weakens muscles in the central nervous system, spinal muscular atrophy (or SMA) has no current cure. Some with the disease die because they can’t breathe or swallow. SMA is the leading genetic cause of death among infants and affects about 1 in 6,000 newborns.

Researchers, including Dr. Adrian Krainer at Cold Spring Harbor Laboratory, however, have been working to find a treatment. Krainer has unlocked a potential solution. His work with antisense oligonucleotides (or ASOs) has been impressive enough in the lab and on mice that California-based Isis Pharmaceuticals started using his treatment in the first phase of clinical trials in December. It’s too early to determine the effectiveness of this approach.

SMA is a genetic disorder and is caused by a defective SMN1 gene, which is on the fifth chromosome. That gene produces the survival of motor neuron protein. Without enough of that protein, the motor neurons in the spinal chord gradually die and the muscles they control cease to function.

The solution to this recessive genetic disease may be in the genes themselves. There is a backup gene, called SMN2, that produces the same protein. The problem in children with the disease is that the backup often doesn’t produce enough protein or the protein isn’t complete or breaks apart.

Krainer’s lab has aimed one of its efforts at improving the function of SMN2. The problem with SMN2 is in something called splicing, a process where important pieces of genetic information (exons) are linked together while white noise (introns) is spliced or cut away. The exons are like the proverbial wheat and the introns are the chaff.

As DNA and its cousin RNA go from the genetic blueprint stage to the protein-building stage, there are signposts along the way that indicate whether the next set of genetic instructions is an exon or an intron. A repressor sits on SMN2 at exon 7 that mistakenly sends the cell’s RNA machinery away. The repressor acts like a “Do Not Enter” sign, making it hard for the cell’s machinery to recognize an exon.

Krainer’s lab has created a synthetic molecule called antisense oligonucleotide that replaces that “Do Not Enter” sign and encourages the gene splicing tools to include the information from exon 7 when it builds the survival of motor neuron protein.

In the lab, ASO has done its job, making SMN2 act like its much more effective SMN1 cousin. When Krainer injected ASO into mice with severe SMA, he found that they not only lived longer, but they also were able to grow and develop the same way as mice without the genetic defect.

Krainer’s lab is “changing how the splicing machinery” works, he offered. “We took the repressor out of the picture.”

Krainer has been working on SMA for over a decade. The Uruguay-native who has been at Cold Spring Harbor Lab since 1986 is on the advisory board for two SMA foundations.

He said he quickly moved from understanding SMA as an abstract cell mechanism problem to the urgent need to “do something about it. When [a disease] affects children and very young infants in particular, it is something even more touching.”
Residents of Huntington Station, Krainer and his family have made the Cold Spring Harbor Lab a family affair over the years.

Krainer’s wife Denise Roberts (who met Adrian when they were Ph.D. students at Harvard in the 1980s) is the deputy administrative director of the cancer center at Cold Spring Harbor.
All three of their children — Emily, 22, Andrew, 19 and Brian, 18 — have pitched in at different labs over the years. After she graduates from Brandeis this year, Emily plans to attend medical school and has shown an interest in pediatric neurology. Some day, if her father’s treatment proves effective, Emily may be able to do more for children like Dylan Cuevas than doctors have been able to do up until now.

“I definitely hope [Krainer’s treatment] leads to an improvement,” said Debbie Cuevas, who runs the Families of SMA Greater New York Chapter. “I’m happy to see that it’s going into clinical trials.”

A full-time mom to Dylan and Heather, 5, Debbie Cuevas gave up her job at AIG to take care of her children. Cuevas and her husband, Ron, who works for Chips Technology Group in Syosset, have been through some harrowing times. Dylan has had respiratory failure several times and breathes with the assistance of a respirator.

Still, Cuevas remains positive. “Every day we’re on this Earth is a gift,” she said.

Even if Krainer’s research doesn’t provide the single, definitive solution to SMA, Cuevas believes his research, and that of others, can move science and medicine in the right direction.

Some day, for all the families who pray for a cure, she hopes “someone won’t have to utter the words SMA as a diagnosis.”