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. 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 .
  2. 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 .
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Search PubMed

Me after staying up all night looking up genomic terms in our new Talking Glossary. go.usa.gov/xum8S Retweeted by National Human Genome Research Institute

Here is the info for the roundtable discussion, where scientists and scholars will talk about connections between genomic technologies and the legacies of eugenics: go.usa.gov/xuyur

In the meantime, we recommend you check out this post from @NIH_EDI: edi.nih.gov/blog/communiti…. We will be posting links to other resources on this topic in the coming days, including many written by our roundtable panelists.

We’ve put your question in the queue for the roundtable, and asked our NHGRI historian Christopher Donohue to help provide insight from the perspective of the history of disability and how ableism can coincide with eugenics.

@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…

Me after staying up all night looking up genomic terms in our new Talking Glossary. go.usa.gov/xum8S

test Twitter Media - Me after staying up all night looking up genomic terms in our new Talking Glossary. https://t.co/iwYElHyzXt https://t.co/oa9buyfU5m

As research into genetics and genomics advances, scientists need to work to dismantle and confront ableism, eugenics and racism, which still exist at the NIH, in science and in society. Retweeted by National Human Genome Research Institute

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

The unique structure of chromosomes keeps DNA tightly wound around spool-like proteins called histones. Without this, DNA molecules would be too long to fit inside cells! Retweeted by National Human Genome Research Institute

Genomics must be a revolutionary science, not a reactionary one. 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

If all of the DNA molecules in a single human cell were unwound from their histones and placed end-to-end, they would stretch 6 feet! #GenomeFacts go.usa.gov/xuvEn

The unique structure of chromosomes keeps DNA tightly wound around spool-like proteins called histones. Without this, DNA molecules would be too long to fit inside cells!

They will also consider how the science community can quickly adapt these new technologies. Join us May 24-26 for this free event! nih.zoomgov.com/meeting/regist…

We are teaming up with @NIEHS for a virtual workshop all about RNA sequencing! Researchers will discuss the sequencing technology that is needed to capture the molecular diversity and cellular context of RNA.

.@Genome_gov has a funding opportunity to help diversify genomic data science education! go.usa.gov/xuuMT Retweeted by National Human Genome Research Institute

This will be done through a cloud-based educational Hub that will engage with minority-serving institutions and help students from underrepresented populations learn about computational genomics and data science! go.usa.gov/xuuMT

.@Genome_gov has a funding opportunity to help diversify genomic data science education! go.usa.gov/xuuMT

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

NHGRI Website

Curriculum vitae