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NASA astronaut Kate Rubins featured at 2024 NHGRI Symposium

Eric Green, M.D., Ph.D. December 05, 2024

I had a wonderful time catching up with so many genetics and genomics colleagues at the American Society of Human Genetics (ASHG) Annual Meeting last month in snowy Denver. In addition to meeting with the ASHG Board of Directors, I stopped in at a few meetings of research consortia and spent multiple hours greeting genomics and genetics enthusiasts at the NHGRI booth on the exhibit floor. I am already looking forward to the 2025 ASHG meeting in Boston!

Shortly thereafter, I experienced two intensely wonderful days at the 2024 NHGRI Symposium, an annual event that brings together staff from across the entire institute, providing an opportunity to learn from others and to celebrate the latest accomplishments at the forefront of genomics. This year’s two keynote speakers were Karina Walters, Ph.D., M.S.W., director of NIH’s Tribal Health Research Office (THRO), and NASA astronaut Kate Rubins, Ph.D. (more on her talk below). A video of Dr. Walters’ talk is now available on NHGRI’s YouTube channel, GenomeTV.

Finally, I would like to remind you that applications are now open for the ASHG-NHGRI Genomics and Public Service Fellowship Program and nominations are currently being accepted for the 2024 Bettie J. Graham Leadership Award for Enhancing Diversity, Equity, Inclusion, and Accessibility (DEIA) in the Genomics Workforce. The submission deadlines are January 5 and January 17, respectively.

 

All the best,

Eric Green signature

NASA astronaut Kate Rubins featured at 2024 NHGRI Symposium

Kate Rubins

 

Last month’s 2024 NHGRI Symposium featured an “out-of-this-world” keynote speaker, biologist and NASA astronaut Kate Rubins, Ph.D., who was the first person to sequence DNA in space. In her talk, Genomics for an Interplanetary Future, Dr. Rubins highlighted the importance of biological research on the International Space Station (ISS) and how devising sustainable ways to perform experiments and study the human body on the ISS is crucial for both space exploration and for enabling medical research and healthcare in the most remote and under-resourced places on Earth.

Before Dr. Rubins became an astronaut, she was a fellow and principal investigator at the Whitehead Institute, specializing in virology and public health. NIH can claim some small part in her career transition. One night while working with a colleague to prepare an NIH grant application that seemed to be going nowhere, the two frustrated researchers started exploring career alternatives on USA Jobs. Here, they encountered a listing for new NASA astronauts and jokingly talked about applying. Dr. Rubins did apply, and the following year, she joined NASA’s entering astronaut class.

When Dr. Rubins headed out on her first mission to the ISS in 2016, knowledge about how to do molecular biology in space was very limited. No one knew whether essential lab techniques like pipetting would even be possible in microgravity or whether the samples would float out of their tubes. Not only did Dr. Rubins demonstrate molecular biology is possible in space, but after sending up a sequencer to the ISS, she became the first person to sequence DNA in space. These technologies have now enabled Dr. Rubins and other astronauts to conduct meaningful biological research on the ISS.

DNA sequencing in space can also facilitate better and faster medical care for astronauts on long missions. In her talk, Dr. Rubins discussed the physiological effects of living in low Earth orbit, and how much still remains to be discovered about the impacts of microgravity on the human body. Having devised methods for cell culture in space, Dr. Rubins and other astronauts continue to work on culturing cardiomyocytes (or heart cells) on the ISS to study how microgravity affects the heart and other organs at the cellular level.

As space exploration pushes forward to send astronauts back to the moon and beyond, Dr. Rubins is interested in understanding the range of microbial passengers that humans bring with them to space and what might remain of them in these isolated and hostile environments. This is an area she highlights as of particular relevance for upcoming missions to Mars, where earthly microbes tagging along with the astronauts could be a source of distracting contamination when looking for signs of extraterrestrial life.

Towards the end of her talk, Dr. Rubins also encouraged the audience to look back at earth. While some of the challenges of doing science or providing health care in space are related to the unique conditions of microgravity, many of the biggest hurdles are simply the product of space being remote. Before Dr. Rubins became an astronaut, her virology research brought her to profoundly under-resourced areas in the Democratic Republic of the Congo. She emphasized that there are many areas on earth where, like in space, supplies and equipment are tightly constrained and nothing can be taken for granted. Many technologies and practices developed to perform research and deliver medical care in space therefore have the potential to be repurposed to help people here on Earth.

During her two days visiting NHGRI, Dr. Rubins met with trainees, fellows, intramural faculty, and other institute personnel, including sitting down with the NHGRI History of Genomics Program to give an oral history of her experiences with science and space. This was not Dr. Rubins’ first visit to NHGRI, having participated in the institute’s National DNA Day celebration in 2017. We hope to welcome her back to this part of the planet again soon!

Trainees deliver three-minute talks in annual competition

Screenshot of Lily Barna's Three-minute Talks video presentation

 

Each year, NIH holds a competition in which postbaccalaureate researchers, graduate students, and postdoctoral fellows from the NIH Intramural Research Program describe their research clearly and engagingly in just three minutes. The competition, called Three-Minute Talks (TmT), challenges trainees to develop their communication skills as they efficiently explain the background, key findings, and significance of their work. The captivating talks that come out of this contest have long been featured on NHGRI’s YouTube channel, GenomeTV, but recently, NHGRI created a webpage to showcase the collection of talks from our trainees. Watch the recordings on the new TmT landing page on genome.gov

Collaborative network to study genetics and childhood malnutrition

Childhood malnutrition

 

Every year, around two million children become severely malnourished, 20-30% of whom do not survive. Some malnourished children start to develop a condition called kwashiorkor, where their bodies retain fluid resulting in a swollen, distended abdomen. Even if a child is treated for malnutrition, this condition can have long-term impacts on their development and wellbeing. While researchers have studied malnutrition for decades, it remains unknown why some severely malnourished children develop kwashiorkor and others do not. NHGRI researcher Neil Hanchard, M.B.B.S., Ph.D., and collaborators from eight sites across seven countries in Africa have formed a network called KwashNet to conduct the first genetic studies on the development of kwashiorkor. They hope that by identifying regions of the human genome implicated in responses to malnutrition, better treatments for kwashiorkor can be developed. Characterizing these regions may also provide insight to other disorders related to nutritional stress, such as cancer. Learn more about the project on the new webpage on genome.gov.

NHGRI celebrates Genetic Counselor Awareness Day

Genetic Counselor Awareness Day promotion

 

November 14 was Genetic Counselor Awareness Day, a time to recognize genetic counselors and the vital work they do. For patients seeking clarity about the results of genomic and genetic tests or grappling with a diagnosis of a new genetic condition, genetic counselors provide guidance that helps patients understand what such information means for them and their families. At NHGRI, not only are genetic counselors a vital resource in clinical settings, but many genetic counselors, like Caralynn Wilczewski, M.S.G.C., also participate in research. Wilczewski specializes in precision medicine and helps participants in research studies understand the results of their genetic testing. To celebrate the important role genetic counselors play in the world of genomics, NHGRI spotlighted the work of Wilczewski and other genetic counselors on LinkedIn.

Seven NIH colleagues elected to the National Academy of Medicine

National Academy of Medicine

The National Academy of Medicine recently elected seven NIH colleagues as new members for their outstanding contributions to medicine. Election to the academy is one of the highest honors in health and medicine and recognizes researchers and leaders who have made significant and innovative advances in human health. The list includes Stephen Chanock, M.D.; Janine Clayton, M.D.; Jeanne Marrazzo, M.D., M.P.H.; Niki Moutsopoulos, D.D.S., Ph.D.; Avindra Nath, M.D.; Nina Schor, M.D., Ph.D.; and Lindsey Criswell, M.D., M.P.H., D.Sc. These esteemed researchers and medical professionals come from institutes, centers, and offices across NIH, including NHGRI. For example, Dr. Criswell, who is the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases, conducts her research within NHGRI’s Intramural Research Program, where she and her lab study the genetics and epidemiology of autoimmune diseases. Congratulations to all seven colleagues for this exceptional honor!

Genomics Research Spotlight

Examining epigenetic aging in the post-mortem brain in attention deficit hyperactivity disorder 
Shastri, et al.
Front. Genet., Oct 2024, PMID: 39440240

 

As we age, the chemical tags on our genomes (known as the epigenome) start to change. Scientists can look at changes in the patterns of these chemical tags to estimate how different parts of our bodies are aging biologically. Recently, NHGRI researchers examined these patterns to determine whether attention deficit hyperactivity disorder (ADHD) — a common neurodevelopmental condition characterized by inattention, hyperactivity, and impulsivity — affects how the human brain ages. Previous studies have found that in other neurodevelopmental conditions, such as autism spectrum disorder, certain regions of the brain show accelerated aging according to the epigenome. However, after examining post-mortem tissue of people with ADHD, the researchers found no differences in epigenetic aging in the brains between people with and without ADHD. This study is an initial insight into what ways ADHD may or may not affect the brain, and future studies may examine different brain regions and cell types to provide a more complete picture. 

 

This research was supported by the NHGRI Intramural Research Program in the research groups of Laura Elnitski, Ph.D., and Phillip Shaw, Ph.D.

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About The Genomics Landscape

A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.

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Last updated: December 5, 2024