NHGRI appoints Erin Ramos as Director of the Division of Genome Sciences

Erin Ramos, Ph.D., M.P.H., has been appointed as the new director of NHGRI’s Division of Genome Sciences (DGSci), part of the institute’s Extramural Research Program. DGSci funds extramural research supporting the resources, technologies, analytical tools, and large-scale projects that drive genome sciences and human genomics research.  

“Erin’s multidisciplinary and collaborative approach to science, along with her outstanding accomplishments in program development and management, make her ideally suited for joining the leadership of NHGRI’s Extramural Research Program,” said NHGRI Director Eric Green, M.D., Ph.D. “I am thrilled to have her at the helm of our Division of Genome Sciences.”

Dr. Ramos obtained a B.S. in biology and genetics from Pennsylvania State University, followed by a M.P.H. and a Ph.D. in public health genetics from the University of Washington. While earning her doctoral degree, she worked as a research consultant for the National Alzheimer’s Coordinating Center, where she developed and implemented standardized data-collection protocols and data-access polices. There, she gained an in-depth knowledge about the incredible impacts and challenges of data sharing and cross-project collaborations.   

Dr. Ramos came to NHGRI in 2007 as a program director, initially in the Office of Population Genomics and later in the extramural Division of Genomic Medicine (DGM). Her early work included establishing the Phenotypes and Exposures (PhenX) Toolkit as a resource for supporting simplified, standardized data collection and facilitating cross-study analyses and data sharing. She also launched the Clinical Genome Resource (ClinGen) as a consensus resource for evaluating the clinical relevance of genes and genomic variants. With Dr. Ramos’ leadership, ClinGen has since grown into an international consortium of over 2,800 clinicians and researchers across 69 countries. In 2020, Dr. Ramos was promoted to deputy director of DGM, where she implemented and oversaw multiple genomic medicine programs. 

“My vision for leading DGSci is grounded in pillars of collaboration, strategic decision-making, inclusion, and empathy,” said Dr. Ramos. “I plan to integrate these pillars within the fantastic programs that the previous DGSci directors and team established and to continue supporting the wonderful people who are producing excellent science.”  

As DGSci director, Dr. Ramos will oversee a myriad of basic science-oriented genomics research programs and partner with other NHGRI divisions and offices to support impactful science at the forefront of genomics. In her new role, she hopes to facilitate communication and collaboration between the researchers — who are now generating foundational resources and technologies and massive genomics datasets — and the clinical genomics community who are implementing genomic medicine to advance patient care.

Lisa Chadwick, Ph.D., will partner with Dr. Ramos as the new DGSci deputy director. In her previous role as a DGSci program director, Dr. Chadwick oversaw numerous research grants as well as NHGRI’s GREGoR Consortium program.

Dr. Ramos began her new appointment on December 29, 2024.

NHGRI researchers in the Undiagnosed Diseases Program have identified a new genetic condition, which they have named Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS). This new condition was identified by studying nine patients who had a similar constellation of symptoms that included muscle weakness, hearing loss, and low body weight. The patients were all found to have variants in the RFC4 gene leading to decreased production or function of the RFC4 protein, which is important for DNA replication. The new condition is named for NHGRI researchers Marie Morimoto, Ph.D., and May Christine Malicdan, M.D., Ph.D., along with their collaborator Eunjin Ryu, Ph.D., at the Institute for Basic Science in Ulsan, South Korea. A paper describing the condition and its genetics was published in the American Journal of Human Genetics.

Polygenic risk scores (PRSs) are an emerging form of genetic test that aim to estimate a person’s risk for specific diseases based on the variants present in their genome. While PRSs have the potential to help people make informed clinical decisions and take preventative measures for their health, these tests are not always equitable. Many polygenic risk scores are developed using data from only European populations and are, therefore, not as accurate for people with non-European ancestries. Since 2021, NHGRI has funded the Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium, which seeks to improve PRS methods and applications across different populations and ancestries. The consortium recently published a paper in the American Journal of Human Genetics outlining their goals, approaches, and ongoing activities, including their new PRS methods and models for standardization across diverse datasets. Since genomics accounts for only part of a person’s disease risk, the PRIMED Consortium is also investigating the contributions of non-genetic factors to risk models, such as environmental exposures and social determinants of health.

On December 12 and 13, NHGRI and the National Institute of Allergy and Infectious Diseases (NIAID) hosted the 16th Genomic Medicine Meeting, which focused on Host Genomics and Infectious Disease. The meeting aimed to identify needs, challenges, and opportunities in using genomic information in the diagnosis, prevention, and treatment of infectious diseases. Over the two days, researchers and clinicians in the fields of infectious disease and genomics discussed their experiences and findings in the field. Topics included better understanding the genomic basis of immune conditions, the ways in which genomic medicine is currently used in clinical care for infectious diseases, genomic causes of different patient outcomes, and the current landscape of implementing genomic medicine approaches in infectious disease management. Videos from the meeting will be available online later this month.

NHGRI postdoctoral fellow Marlena Fisher, Ph.D., R.N., is among the recipients of the 2025 Coleman Research Innovation Award for her work on health disparities and kidney disease. These awards, given by the National Institute on Minority Health and Health Disparities (NIMHD), seek to recognize staff in NIH intramural research programs whose research projects have the potential for great impact for improving health outcomes for people experiencing health disparities. Dr. Fisher studies how health communication and familial support are involved in developing kidney disease — especially its more serious forms — among Black adults. End-stage kidney disease, for example, is four-times more prevalent among Black adults compared to white adults in the United States, but the social factors contributing to these differing outcomes has not been well studied. More information about the awards and Dr. Fisher’s work is available on the Coleman Research Innovation Awards website.