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.
- 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.
- Brainstorm Consortium, Anttila, V, Bulik-Sullivan, B, Finucane, HK, Walters, RK, Bras, J, Duncan, L, Escott-Price, V, Falcone, GJ, Gormley, P et al.. Analysis of shared heritability in common disorders of the brain. Science 2018; 360 (6395): . PubMed PMID:29930110 PubMed Central PMC6097237.
- Riggs, ER, Azzariti, DR, Niehaus, A, Goehringer, SR, Ramos, EM, Rodriguez, LL, Knoppers, B, Rehm, HL, Martin, CL, Clinical Genome Resource Education Working Group et al.. Development of a consent resource for genomic data sharing in the clinical setting. Genet Med 2019; 21 (1): 81-88. PubMed PMID:29899502 PubMed Central PMC6292744.
- Azzariti, DR, Riggs, ER, Niehaus, A, Rodriguez, LL, Ramos, EM, Kattman, B, Landrum, MJ, Martin, CL, Rehm, HL. Points to consider for sharing variant-level information from clinical genetic testing with ClinVar. Cold Spring Harb Mol Case Stud 2018; 4 (1): . PubMed PMID:29437798 PubMed Central PMC5793773.
Before #DiabetesAwarenessMonth and #NativeAmericanHeritageMonth come to an end, visit the "I Am Intramural" #blog to learn how two #NIH @NIDDKgov researchers are exploring genetic risk factors for #type2diabetes in an Indigenous community in Arizona: go.usa.gov/xeUFr Retweeted by National Human Genome Research Institute
One of Healthy People 2030’s 5 overarching goals from @HealthGov relates to #SDOH. Use & share NIMHD’s PhenX SDOH assessments collection, which aims to advance this focus & encourage/support #MinorityHealth & #HealthDisparity research. #NIH @PhenXToolkit bit.ly/2ZRTrWJ Retweeted by National Human Genome Research Institute
Genomics plays an important role in the study and implementation of precision medicine. Genomics provides a window into the specific “blueprint” differences among us and allows clinicians to tailor the care of each patient. This helps make their medical management more precise! Retweeted by National Human Genome Research Institute
In 1998, scientists with the Human Genome Project, including Bob Waterston, sequenced a roundworm — the first animal to ever be sequenced! Sequencing the genomes of animals helped scientists better understand the human genome sequence. This is an example of comparative genomics! Retweeted by National Human Genome Research Institute
In general, animals are less tolerant of chromosomal changes than plants. Many plants can acquire extra sets of chromosomes and not be harmed. In fact, for some plants, duplication of chromosomes has been a critical step in genome evolution! Plant-astic. #HolidayGenomeFacts
Each snowflake is unique, right? Well, we don’t know about snowflakes, but we do know DNA — and each DNA sequence in a person is unique! Even though 99.9% of our sequences are the same, each person’s sequence has slight differences, called genomic variants. #HolidayGenomeFacts