Symposium Speaker: Erin M. Ramos, PhD, MPH

Dr. Erin M. Ramos is an epidemiologist in the Division of Genomic Medicine, National Human Genome Research Institute (NHGRI). She manages a portfolio of research in population genomics including a collaborative project to develop a set of standardized phenotypic and exposure measures for use in genome-wide association studies and related research (PhenX).  She also manages the Clinical Genome Resource (ClinGen), which aims to collect phenotypic and clinical information on variants across the genome, develop a consensus approach to identify clinically relevant genetic variants, and disseminate information about the variants to researchers and clinicians.  Dr. Ramos previously served as the chair of the Data Access Committee (DAC) for the Genetic Association Information Network (GAIN) and as a member of NHGRI's DAC.

Dr. Ramos received her MPH and PhD in the multidisciplinary field of public health genetics from the University of Washington where her research focused on the genetic epidemiology of Alzheimer's disease and the ethical, legal, and social implications that surround genomics research.  Her current research interests include the genetic epidemiology of dementia; genome-wide association studies and gene-environment interactions in complex disease; and Ethical, Legal and Social Implications (ELSI) research, including informed consent for large-scale genomic studies.

Recent Publications

  1. Pan, H, Bakalov, V, Cox, L, Engle, ML, Erickson, SW, Feolo, M, Guo, Y, Huggins, W, Hwang, S, Kimura, M et al.. Identifying Datasets for Cross-Study Analysis in dbGaP using PhenX. Sci Data 2022; 9 (1): 532. PubMed PMID:36050327 PubMed Central PMC9434066.
  2. DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E et al.. The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med 2022; 24 (8): 1732-1742. PubMed PMID:35507016 PubMed Central PMC7613247.
  3. Hunter, JE, Jenkins, CL, Bulkley, JE, Gilmore, MJ, Lee, K, Pak, CM, Wallace, KE, Buchanan, AH, Foreman, AKM, Freed, AS et al.. ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. Genet Med 2022; 24 (6): 1328-1335. PubMed PMID:35341655 PubMed Central PMC9156571.
  4. Manolio, TA, Bult, CJ, Chisholm, RL, Deverka, PA, Ginsburg, GS, Goldrich, M, Jarvik, GP, Mensah, GA, Ramos, EM, Relling, MV et al.. Genomic medicine year in review: 2021. Am J Hum Genet 2021; 108 (12): 2210-2214. PubMed PMID:34861172 PubMed Central PMC8715274.
  5. Cox, LA, Hwang, S, Haines, J, Ramos, EM, McCarty, CA, Marazita, ML, Engle, ML, Hendershot, T, Pan, HH, Hamilton, CM et al.. Using the PhenX Toolkit to Select Standard Measurement Protocols for Your Research Study. Curr Protoc 2021; 1 (5): e149. PubMed PMID:34038028 PubMed Central PMC8251725.
  6. Chung, WK, Brothers, K, Bradbury, A, Chanprasert, S, Orlando, L, Torkamani, A, Zierhut, H, Ritchie, MD, Phillips, M, Schoden, J et al.. Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection. Genet Med 2021; 23 (9): 1783-1788. PubMed PMID:33972721 PubMed Central PMC8108409.
  7. Wand, H, Lambert, SA, Tamburro, C, Iacocca, MA, O'Sullivan, JW, Sillari, C, Kullo, IJ, Rowley, R, Dron, JS, Brockman, D et al.. Improving reporting standards for polygenic scores in risk prediction studies. Nature 2021; 591 (7849): 211-219. PubMed PMID:33692554 PubMed Central PMC8609771.
  8. Popejoy, AB, Crooks, KR, Fullerton, SM, Hindorff, LA, Hooker, GW, Koenig, BA, Pino, N, Ramos, EM, Ritter, DI, Wand, H et al.. Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. Am J Hum Genet 2020; 107 (1): 72-82. PubMed PMID:32504544 PubMed Central PMC7332657.
  9. Webber, EM, Hunter, JE, Biesecker, LG, Buchanan, AH, Clarke, EV, Currey, E, Dagan-Rosenfeld, O, Lee, K, Lindor, NM, Martin, CL et al.. Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. Hum Mutat 2018; 39 (11): 1677-1685. PubMed PMID:30311382 PubMed Central PMC6211797.
  10. Popejoy, AB, Ritter, DI, Crooks, K, Currey, E, Fullerton, SM, Hindorff, LA, Koenig, B, Ramos, EM, Sorokin, EP, Wand, H et al.. The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Hum Mutat 2018; 39 (11): 1713-1720. PubMed PMID:30311373 PubMed Central PMC6188707.
Search PubMed

Understanding the function of an entire genome is no easy task! Most genes likely have more than one function and behave differently depending on context. Retweeted by National Human Genome Research Institute

I encourage you to join our upcoming symposium “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future” on October 6 and 7 for the opportunity to listen and participate in discussions about constructions of disability and ableism. genome.gov/event-calendar… Retweeted by National Human Genome Research Institute

@VenceBonham and his team at @genome_gov have created educational resources about the benefits and risks of gene therapy for patients and the sickle cell disease community. Learn more: genome.gov/research-at-nh….

Affecting over 100,000 Americans, sickle cell disease impacts red blood cells and alters patients’ quality of life. Gene therapy trials are becoming more common for potential treatments and cures.

Students and faculty from the GURU program will join us for our upcoming symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present and Future,” to discuss the benefits and challenges of mentorship in the context of ableism in academia. #NHGRIevents

The @UUtah’s GURU program provides disabled students the opportunity to join a research team focused on ethical, legal and social issues in genomics. This is an important example of one of the ways ableism can be confronted in academia.

By understanding the molecular phenotypes of nonfunctional alleles in cells, researchers can get closer to achieving this goal! genome.gov/news/news-rele…

That is why @genome_gov has launched the MorPhiC program to understand the function of every human gene and create a catalog of the molecular consequences of inactivating each gene.

Understanding the function of an entire genome is no easy task! Most genes likely have more than one function and behave differently depending on context.

test Twitter Media - Understanding the function of an entire genome is no easy task! Most genes likely have more than one function and behave differently depending on context. https://t.co/vAoxFuBMRW

Currently, out of the estimated 19,000 protein-coding genes, over 6,000 have not been well-studied. And only a very small number of genes have had their functions well-characterized.

Learn more at our pre-application webinar tomorrow at 2 p.m. ET! genome.gov/event-calendar…

New funding opportunities! 🎉 @genome_gov, @NIMH and @NIMHD are teaming up to launch the Diversity Centers for Genome Research, which will help establish genomic centers at minority-serving institutions.

Genomics is becoming a bigger part of patient care, but healthcare providers may not be aware of available genomics education resources. The more healthcare providers understand genomics, the more we can help patients understand the role of genomics in their health. Retweeted by National Human Genome Research Institute

While it's clear how beneficial genetic screening can be for people and public health overall, scholars have long debated whether screening and sequencing technologies can, in some cases, stigmatize disability and support unethical and unscientific ideologies. (Thread) Retweeted by National Human Genome Research Institute

We have a few things to say: 1) Fall is an amazing season 2) Candy corn is perfect 3) Our Talking Glossary of Genomic Terms is a fun way to learn about genomics and the latest research! genome.gov/genetics-gloss… Retweeted by National Human Genome Research Institute

Rebecca Mueller is a historian of medicine, medical ethnographer and genetic counselor @Penn. She will present her talk, “Time, Future and Genetics: The Temporal Complexity of Disability,” at our upcoming symposium on disability and ableism. Join us on Oct. 6-7. #NHGRIevents

“We know little about how patients and families learn about disease prognosis beyond that moment of diagnosis,” Rebecca Mueller explains. “This is especially problematic because the outlook for many pediatric genetic diseases has changed dramatically in recent decades.”

Today’s #NobelPrize winner Svante Pääbo is a true authority on the study of ancient DNA. He was the first to successfully clone DNA from a mummy, and in 2009, he completed sequencing of the Neanderthal genome (in collaboration with Jim Mullikin @genome_gov!). Retweeted by National Human Genome Research Institute

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