NHGRI logo

NHGRI awards second annual Bettie J. Graham Leadership Awards for excellence in DEIA

Eric Green, M.D., Ph.D. June 06, 2024

Last month was a busy time at NHGRI, including a very productive meeting of the National Advisory Council for Human Genome Research. My favorite highlight of the director’s report, which I gave at the beginning of this meeting, was announcing the first cohort of fellows in the new American Society for Human Genetics (ASHG)-NHGRI Genomics and Public Service Fellowship Program. Note that I will have more to say about these fellows when they start in early July. As always, recordings of my director’s report and other presentations from the open session of this council meeting are now available on NHGRI’s YouTube channel, GenomeTV.

In part because of the recently released National Academies of Sciences, Engineering, and Medicine (NASEM) report calling for new technologies to study RNA and all of its modifications, NHGRI is expanding its focus on the world of RNA — from funding RNA-specific technology development projects to creating educational resources about RNA, such as this new RNA fact sheet. For hands-on learners, NHGRI has also recently released a foldable paper model of tRNA, which provides a fun way to explore RNA folding.

Looking ahead to this summer, I encourage you to attend our symposium Exploring the Many Dimensions of Sex and Gender in the Genomics Era, which NHGRI is co-hosting with the NIH Sexual and Gender Minority Research Office and the NIH Office of Research on Women’s Health. The symposium will feature experts in both the biological and social sciences who will discuss and contextualize the scientific, ethical, and historical complexities around sex, gender, and genomics. This virtual symposium will take place on July 17 – 18 and is open to the public, though registration is required.

 

All the best,

 

Eric Green signature

NHGRI awards second annual Bettie J. Graham Leadership Awards for excellence in DEIA

DEIA Awardees Group Photo (from left to right): Vence Bonham, Lucia Hindorff, Shurjo Sen, Bettie Graham, Shilpa Garg, Eric Green. On Screen: Nicola Mulder.

 

A fundamental part of NHGRI’s mission is developing and supporting a diverse genomics workforce, which includes recognizing the exemplary efforts of people who champion diversity, equity, inclusion, and accessibility (DEIA) in genomics. To celebrate such efforts, NHGRI created the Bettie J. Graham Leadership Award for Enhancing DEIA in the Genomics Workforce

The award, which was first given last year, was renamed at the end of 2023 in honor of retired director of NHGRI’s Division of Extramural Operations, Bettie Graham, Ph.D., who was a strong advocate for DEIA throughout her career. Dr. Graham was also one of the inaugural recipients of the award, along with Pardis Sabeti, M.D., Ph.D., and Ann Mc Cartney, Ph.D.

The Bettie J. Graham leadership award seeks to celebrate the exceptional efforts of NHGRI grantees and staff members at different career levels. The 2023 award recipients are Shilpa Garg, Ph.D., a senior researcher at the Technical University of Denmark; Nicola Mulder, Ph.D., a professor of computational biology at the University of Cape Town; and Shurjo Sen, Ph.D., a program director in the NHGRI Office of Genomic Data Science.

“My dedication to DEIA in genetics and genomics to help society is a personal mission,” said Dr. Garg. “I believe the potential of genomics can only be realized when it is inclusive, equitable, and accessible to all.”

Dr. Garg’s research has focused on the development of high-quality reference genome sequences, emphasizing the inclusion of historically underrepresented groups and thus enabling a deeper understanding of genetic predispositions across diverse populations. In addition to continuing human genomics studies, some of Dr. Garg’s current research focuses on fungal genomics and sustainability. Additionally, mentorship is a cornerstone of Dr. Garg’s work. She has mentored young scientists from diverse backgrounds, creating courses, workshops, internships, and scholarships for underrepresented groups in genomics and advocating for inclusive research.

Prof. Mulder has also created programs to increase diversity in the genomics workforce by supporting capacity building for genomics research in Africa. “My team and I have developed a genomics and bioinformatics training program to meet the very diverse needs and skills required to implement genomics at scale in Africa,” Prof. Mulder said. “This continent has previously been left behind in the development of genomics, and we have designed novel training approaches to enhance DEIA.”

Prof. Mulder leads the H3ABioNet, a pan-African bioinformatics network, which has trained over 4,500 individuals across Africa in genomics and bioinformatics. Aimed at low- and middle-income countries, the training program has reached underrepresented groups in over 18 countries across Africa. In addition to making the training accessible for non-English speakers, Prof. Mulder’s team designed novel delivery methods of the training materials to increase accessibility for as many participants as possible. This has been especially valuable given the enormous demand in resource-limited settings. Beyond her work with H3ABioNet, Prof. Mulder also focuses on mentoring early-career scientists, especially women in science, and she has been a mentor for two mid-career female scientists.

As an extramural program director at NHGRI, Dr. Sen works to create equitable opportunities for students and early-career researchers from all backgrounds to gain access to education and training in computational genomics and data science. Having spent much of his early career in resource-limited institutions, he believes strongly that creating two-way connections between NHGRI and such institutions is a crucial step in broadening the future genomics workforce.

Dr. Sen manages the Genomic Data Science Community Network, a project that aims to create a dialogue between NHGRI and faculty at small and diverse institutions, as well as the Educational Hub for Computational Genomics and Data Science and its associated Educational Partner Sites. These programs support capacity building at institutions that may not otherwise have the resources to carry out computational genomics research, thus providing new opportunities for students from diverse and historically underrepresented backgrounds.

Apart from Dr. Sen’s work at NHGRI, he also has a leadership role in the NIH Common Fund’s Bridge2AI program, where he is working with a large group of stakeholders and NIH’s AIM-AHEAD program to create training opportunities in biomedical artificial intelligence for researchers, clinicians, and community healthcare workers serving disadvantaged locations throughout the United States.

NHGRI releases funding policy for Fiscal Year 2024

Graphs on a tablet

 

NHGRI has published its funding policy related to the Fiscal Year 2024 budget, in which NIH received a small cut and NHGRI maintained an overall flat budget. Rather than funding fewer awards, NHGRI will be instituting small “across-the-board” cuts to many of the awards it funds. The institute plans to fund both new competing and non-competing awards at 98% of the requested funds starting in Fiscal Year 2024 and in all subsequent years of these awards. Programmatic reductions may still apply on a case-by-case basis. Reductions will not be made to early-stage investigator awards, small business awards, individual fellowships, institutional training grants, career development awards, or awards supporting conferences and courses. Because NHGRI’s research mission is dynamic, prospective applicants and grantees are encouraged to discuss proposed research ideas with the appropriate NHGRI staff before preparing an application, so as to ensure that submitted applications are responsive to NHGRI’s mission. NHGRI’s funding plans will remain in-line with the institute’s goal of supporting research across all career stages in scientific areas outlined in the 2020 NHGRI Strategic Vision and the NHGRI Building a Diverse Genomics Workforce Action Agenda

Inter-Society Coordinating Committee for Practitioner Education in Genomics issues meeting report

2024 ISCC-PEG Annual Meeting Group Photo

 

The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) held a meeting this past April to discuss progress and future directions in genomics education for clinicians and other healthcare practitioners. ISCC-PEG consists of over 300 members, including representatives from societies, professional organizations, NIH institutes and centers, and industry, as well as individuals with expertise in healthcare education. The meeting highlighted recent accomplishments of ISCC-PEG, such as the development of 19 new educational resources since 2020 and featured many presentations. The keynote lecture was given by Teri Manolio, M.D., Ph.D., director of NHGRI’s Division of Genomic Medicine, who spoke about strategies for implementing genomic medicine, future goals for population screening for certain genetic conditions, and new opportunities for genomics education from the postbaccalaureate to the faculty-level. The meeting also focused on strategic planning to reach ISCC-PEG’s goals and more, as detailed in the recently published meeting report.

Charles Rotimi awarded Arthur S. Flemming Award

Charles Rotimi

 

NHGRI Scientific Director Charles Rotimi, Ph.D., was recently selected as a 2023 recipient of the Arthur S. Flemming Award. Dr. Rotimi’s vision for engaging the U.S. and global communities in genomic science and medicine has led to major advances in basic and translational research, particularly focused on areas of genomics relevant to diversity and equity. The award highlights his role in helping lead Genomic Centers of Excellence, which aims to help establish and support a collaborative network of centers across Africa that will generate knowledge and clinical applications and ultimately help reduce global health inequities. Established in 1948 and coordinated by the George Washington University’s Trachtenberg School of Public Policy and Public Administration, the award honors outstanding individuals in federal service. Notable past recipients from NIH include Dr. Anthony Fauci and Dr. Francis Collins. Read more about the Flemming Awards.  

Genomics Research Spotlight

Tracing genetic diversity captures the molecular basis of misfolding disease
Zhao, et al.
Nat. Commun., 2024 Apr, PMID: 38637533

 

The human body has more than 100,000 unique proteins that serve a wide array of functions. Together, all of the proteins in a cell are known as the proteome. Proteostasis is the process by which the proteome is regulated. This regulation can be carried out by other proteins and often involves fine-tuning the rate at which proteins are created and destroyed, as well as repairing damaged or misfolded proteins. These processes are essential for healthy development and aging and for cellular responses to external stressors. In this publication, the researchers describe how they used a machine learning tool to characterize protein misfolding, how this misfolding might lead to disease, and where proteostasis could intervene to stop disease progression. The researchers focused on the relationship between two proteins: GRP94, which corrects the misfolding of other proteins, and alpha-1-antitrypsin, a protein associated with lung and liver disease. The machine learning algorithm analyzed genomic variants to find which ones might affect misfolding outcomes. The resulting model can be adapted for other proteins, and understanding how proteostasis is influenced by genomic information will be vital for developing precise treatments that can be used to treat genetic and somatic disorders involving misfolded proteins. 

 

This research was funded in part by the NIH with a grant to William E. Balch, who is a professor at the Scripps Research Institute; that grant is part of the Novel Approaches for Relating Genetic Variation to Function and Disease Grant (PA-18-868).

Related Resources

Genomics Research

Scientists generate the first complete chromosome sequences from non-human primates

Three new approaches tackle challenging design problems in genomics technology development

Scientists discover over 100 new genomic regions linked to blood pressure

Scientists map networks regulating gene function in the human brain

Scientists unravel genetic basis for neurodegenerative disorders that affect vision

Notable accomplishments in genomic medicine

Upcoming Webcasts

June 12: Quantitative proteomics for understanding mechanisms in human disease

June 26: MAGen NOFO webinar

July 17 – 18: Exploring the many dimensions of sex and gender in the genomics era

Genomics Videos

DIR Seminar Series — Anna Gloyn

NHGRI’s Oral History Collection: Beth Shapiro

NHGRI DIR Seminar Series — Noura Abul-Husn

Broadening Opportunities for Computational Genomics and Data Science Education (3rd Webinar)

Identifying Research Priorities to Accelerate Genetic Diagnosis

May 2024 National Advisory Council for Human Genome Research

Funding Opportunities

Human Genetics Scholars Initiative (HGSI)

ML/AI Tools to Advance Genomic Translational Research (MAGen) 

Notice of Intent to Publish a Funding Opportunity Announcement for Building Partnerships and Broadening Perspectives to Advance Ethical, Legal and Social Implications (ELSI) Research (UM1), Clinical Trial Optional

Research Enhancement Award Program (REAP) for Health Professional Schools and Graduate Schools  

Genomic Community Resources   

Native American Research Centers for Health (NARCH)

grey dot pattern

About The Genomics Landscape

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

grey dot pattern

Last updated: June 6, 2024