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.
- 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; : . PubMed PMID:35507016 .
- 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; : . PubMed PMID:35341655 .
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Milko, LV, Funke, BH, Hershberger, RE, Azzariti, DR, Lee, K, Riggs, ER, Rivera-Munoz, EA, Weaver, MA, Niehaus, A, Currey, EL et al.. Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med 2019; 21 (4): 987-993. PubMed PMID:30181607 PubMed Central PMC6401338.
@JillEscher A great question with a complex answer, which is why we’re hosting a roundtable to get into the history and present-day context. Eugenics is more than sterilization, and it’s important to understand current forms of eugenics in order to combat it. twitter.com/jillescher/sta…
Using one reference genome to study all humans isn’t fetch at all. It can’t possibly represent everyone! That’s why researchers are working to create a “pangenome,” a collection of complete genomes in which everyone’s differences are represented. go.usa.gov/xeMzw Retweeted by National Human Genome Research Institute
Genetics and genomics are both important in health, but what is the difference between them? Genetics refers to the study of inheritance and the ways that traits or conditions are passed down from one generation to another. Genomics describes the study of all of a person's DNA. Retweeted by National Human Genome Research Institute
Genomics is increasingly becoming more accessible in healthcare. Newborn screening involves analyzing blood metabolites as a means to screen for a few dozen genetic diseases, while whole-genome sequencing has the potential to screen newborns for many hundreds of genetic diseases. Retweeted by National Human Genome Research Institute