Importance and Challenges of Increasing Ethnic Diversity in Human Genomics Research

Hosted by the Penn Center for Global Genomics & Health Equity and the Department of Genetics

Overview

The 2021 Global Genomics and Health Equity Virtual Symposium provides a forum that brings into focus the importance and challenges of increasing ethnic diversity in human genomics research. Highlights of the symposium include bringing together key players in human genetics with expertise working in ethnically diverse populations. This year’s two-day event is sponsored by the Penn Center for Global Genomics & Health Equity and the Department of Genetics at the University of Pennsylvania.

Day 1: February 24, 2021 (12:00 - 4:00PM US Eastern Time)
Theme: Importance and Value of Increasing Ethnic Diversity in Human Genomics Research

Day 2: February 25, 2021 (12:00 - 4:00PM US Eastern Time)
Theme: Challenges with Conducting Genomic Studies in Minority Populations

Registration for this symposium is FREE.
One registration gets you into the symposium on both days. Forward all questions to PennGGHE@pennmedicine.upenn.edu

Agenda: Day 1 (February 24, 2021)
Theme: Importance and Value of Increasing Ethnic Diversity in Human Genomics Research

Time Speaker | Title
12:00 - 12:15PM Welcome and Introduction to GGHE at Penn  -   Sarah Tishkoff, PhD
12:15 - 1:00PM Keynote Speaker:  Goncalo Abecasis, PhD
Vice President, Analytical Genomics & Data Sciences, Regeneron Genetics Center
Professor of Biostatistics at the University of Michigan School of Public Health, TOPMed
“Sequencing 100,000s of Humans – Lessons, Challenges, Hopes”
1:00 - 1:10PM Questions for Keynote Speaker
1:10 - 1:25PM Break
1:25 - 1:50PM Marylyn D. Ritchie, PhD  -   University of Pennsylvania Center for Precision Medicine, “Polygenic risk scores – for some or for all?”
1:50 - 2:15PM Neil Hanchard, MD, PhD  -  Baylor College of Medicine, “’Out of Africa’ Genomics”
2:15 - 2:25PM Break
2:25 - 2:50PM Catherine Tcheandjieu, PhD  -  Stanford University School of Medicine, “The Benefit of Diverse Populations for Genetic Discovery in Coronary Artery Disease.”
2:50 - 3:15PM Gary H. Gibbons, MD  -  National Heart, Lung, and Blood Institute at NIH, “Nurturing Diversity in Precision Medicine for Public Health Impact.”
3:15 - 3:45PM Panel Discussion with all Speakers   (Moderator: Sarah Tishkoff, PhD)
3:45 - 4:00PM Concluding Remarks  - Daniel Rader, MD

Agenda: Day 2 (February 25, 2021)
Theme: Challenges with Conducting Genomic Studies in Minority Populations

Time Speaker | Title
12:00 - 12:15PM Introduction and Highlight Research on Health Disparities at Penn  -   Daniel Rader, MD
12:15 - 1:00PM Keynote Speaker:   Ambroise Wonkam, MD, PhD
Professor of Medical Genetics, Director of GeneMAP (Genetic Medicine of African Populations)
University of Cape Town, South Africa
“African Genomic Variations: The Next Frontier of Global Genetic Medicine.”
1:00 - 1:10PM Questions for Keynote Speaker
1:10 - 1:25PM Break
1:25 - 1:50PM P. Keolu Fox, PhD  -  University of California San Diego, Department of Anthropology
“Missing Sequences: Why just increasing diversity in genome science is not enough”
1:50 - 2:15PM Vence L. Bonham, JD  -  National Human Genome Research Institute at NIH
"Moving Beyond Race as a Population Descriptor in Human Genomics Research: A Bold Prediction for 2030”
2:15 - 2:25PM Break
2:25 - 2:50PM Katrina G. Claw, PhD  -  University of Colorado School of Medicine, “Ethics and Best Practices in Research with Indigenous Communities”
2:50 - 3:15PM Marjorie K. Mau, MD  -  Center for Native and Pacific Health Disparities Research, University of Hawaii
“The Promise (and Pitfalls) of Community Engaged Research: the Native Hawaiian Experience”
3:15 - 3:45PM Panel Discussion with all Speakers  (Moderator: Steven Joffe, MD)
3:45 - 4:00PM Concluding Remarks  -  Sarah Tishkoff, PhD

REGISTRATION OPEN!

Registration process takes less than 5 minutes

How to Register for FREE

  1. First click on register now button
  2. Complete the registration form and submit. You will receive a unique symposium link in your email. Note that the link admits only one.
  3. On February 24 & 25, at time of event click on the link you receive in your email to attend the symposium.

SPEAKERS: DAY 1 (February 24, 2021)
Theme: Importance and value of increasing ethnic diversity in human genomics research

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Gonçalo Abecasis, D.Phil.

Keynote Speaker: “Sequencing 100,000s of Humans – Lessons, Challenges, Hopes”

Dr. Gonçalo Abecasis serves as the Vice President and Head of Analytical Genomics and Data Sciences at the Regeneron Genetics Center. In this role, Dr. Abecasis oversees statistical genetics and quantitative data sciences, driving novel genomic discovery at the RGC. He and his team conduct discovery research in support of new target discovery, pharmacogenomics, and translational follow up that cuts across all therapeutic areas. At RGC, he is leading innovative data science on some of the largest genomics datasets, including the UK Biobank and Regeneron-Geisinger DiscovEHR study, and developing cutting edge applications and tools to facilitate large scale analysis and mining of discovery results.
Before joining the RGC, Dr. Abecasis was a member of the RGC Scientific Advisory Board since its inception in 2015 and was instrumental in providing scientific and strategic guidance. He previously was the Director of the University’s Genomics Initiative and the Felix Moore Collegiate Professor of Biostatistics at the University of Michigan. He led a group of scientists developing statistical methods, computational algorithms and software that facilitate quick and accurate analysis of genetic studies of human disease. He has made key contributions to many important genomics and data science initiatives including TOPMed, Genes for Good, and other projects involving some of the largest genomic datasets and development of some of the most widely used methods and tools. His studies, and those of other scientists using his tools, are enabling a better understanding of human genetic variation and its role in disease biology.
In 2014, Dr. Abecasis received the Curt Stern Award from the American Society of Human Genetics for his contributions to the analysis and understanding of complex human traits and, in 2013, he won the Overton Prize from the International Society for Computational Biology for the tools and methods he developed for the analysis of increasingly large datasets. Dr. Abecasis has co-authored more than 250 scientific papers and has appeared on the Thompson Reuters listing of the world’s most cited scientists in 2009, 2011 and 2012. Dr. Abecasis received his undergraduate degree in genetics from the University of Leeds and his D.Phil. in Human Genetics from the University of Oxford.

M. Ritchie

Marylyn Ritchie, PhD

Title: "Polygenic risk scores – for some or for all?”

Marylyn D. Ritchie, PhD is a Professor in the Department of Genetics, Director of the Center for Translational Bioinformatics, and Associate Director for Bioinformatics in the Institute for Biomedical Informatics at the University of Pennsylvania School of Medicine. Dr. Ritchie is also Associate Director for the Penn Center for Precision Medicine.
Dr. Ritchie is a translational bioinformatics scientist, biomedical informatician, and computational human geneticist with a focus on developing novel approaches for understanding the relationship between our genome and human phenotypes. Dr. Ritchie has over 17 years of experience in the analysis of complex data and has authored over 350 publications.
Dr. Ritchie has received several awards and honors including selection as a Genome Technology Rising Young Investigator in 2006, an Alfred P. Sloan Research Fellow in 2010, a KAVLI Frontiers of Science fellow by the National Academy of Science from 2011-2014, and she was inducted as a fellow of the American College of Medical Informatics in 2020.

Neil Hanchard, MD, PhD

Title: “'Out of Africa’ Genomics”

Dr. Neil Hanchard is a newly minted Investigator in the Medical Genomics and Metabolic Genetics Branch of the National Human Genome Research Institute at the NIH, where he heads the Childhood Complex Disease Genomics Section. Prior to arriving at the NIH, Dr. Hanchard was a Physician Scientist and Associate Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. Dr. Hanchard’s lab focuses on integrating population genetics with quantitative multi-omics to explore complex childhood disease traits such as Pediatric HIV, Sickle Cell Disease, and Severe Malnutrition in African populations. Dr. Hanchard is also the current Chair of the Genome Analysis group of the Human Health and Heredity in Africa (H3Africa) Consortium, and a member of the American Society of Human Genetics’ Diversity and Inclusion Task force.

Catherine Tcheandjieu, PhD

Title: “The Benefit of diverse populations for genetic discovery in coronary artery disease.”

Catherine Tcheandjieu is currently a postdoc in Dr. Assimes's lab in the Department of Medicine, Stanford School of Medicine, and at the Palo Alto Epidemiology Research and Information Center (ERIC) for Genomics, where she studies the genetic risk factors for Cardiovascular disease. She has been leading the current multi-ethnic GWAS of Coronary artery disease in the Million Veteran Program with meta-analysis including currently available data from Cardiogram+C4D, the UK-Biobank, and the Biobank Japan (>1M participants). Dr. Tcheandjieu received a doctor of Veterinary Medicine degree from the National High school of veterinary Medicine in Alger (Algeria) in 2010 and a Ph.D. in Genetic Epidemiology at the University of Paris Saclay (France) in 2017. Her research interest is to define the genetic architecture of Cardiovascular Diseases (CVD) in diverse populations and develop genetic approaches for disease risk prediction and therapeutic targeting beneficial to these populations.

G. Gibbons

Gary Gibbons, MD

Title: “Nurturing Diversity in Precision Medicine for Public Health Impact”

Gary H. Gibbons, M.D., is Director of the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health (NIH), where he oversees the third largest institute at the NIH, with an annual budget of approximately $3 billion and a staff of nearly 2,100 federal employees, contractors, and volunteers. NHLBI provides global leadership for research, training, and education programs to promote the prevention and treatment of heart, lung, and blood diseases and enhance the health of all individuals so that they can live longer and more fulfilling lives.
Since being named Director of the NHLBI, Dr. Gibbons has enhanced the NHLBI investment in fundamental discovery science, steadily increasing the payline and number of awards for established and early stage investigators. His commitment to nurturing the next generation of scientists is manifest in expanded funding for career development and loan repayment awards as well as initiatives to facilitate the transition to independent research awards.
Dr. Gibbons provides leadership to advance several NIH initiatives and has made many scientific contributions in the fields of vascular biology, genomic medicine, and the pathogenesis of vascular diseases. His research focuses on investigating the relationships between clinical phenotypes, behavior, molecular interactions, and social determinants on gene expression and their contribution to cardiovascular disease. Dr. Gibbons has received several patents for innovations derived from his research in the fields of vascular biology and the pathogenesis of vascular diseases.
Dr. Gibbons earned his undergraduate degree from Princeton University in Princeton, N.J., and graduated magna cum laude from Harvard Medical School in Boston. He completed his residency and cardiology fellowship at the Harvard-affiliated Brigham and Women's Hospital in Boston. Dr. Gibbons was a member of the faculty at Stanford University in Stanford, CA, from 1990-1996, and at Harvard Medical School from 1996-1999. He joined the Morehouse School of Medicine in 1999, where he served as the founding director of the Cardiovascular Research Institute, chairperson of the Department of Physiology, and professor of physiology and medicine at the Morehouse School of Medicine, in Atlanta. While at Morehouse School of Medicine, Dr. Gibbons served as a member of the National Heart, Lung, and Blood Advisory Council from 2009-2012.
Throughout his career, Dr. Gibbons has received numerous honors, including election to the Institute of Medicine of the National Academies of Sciences; selection as a Robert Wood Johnson Foundation Minority Faculty Development Awardee; selection as a Pew Foundation Biomedical Scholar; and recognition as an Established Investigator of the American Heart Association (AHA).

SPEAKERS: DAY 2 (February 25, 2021)
Theme: Challenges with conducting genomic studies in minority populations

A. Wonkam

Ambroise Wonkam, MD, PhD

Keynote Speaker: "African Genomic Variations: The Next Frontier of Global Genetic Medicine."

Dr. Ambroise Wonkam is a Professor of medical genetics, Director of GeneMAP (Genetic Medicine of African Populations), and Deputy Dean of Research at the Faculty of Health Sciences, University of Cape Town, South Africa.
After a MD training from the Faculty of Medicine and Biomedical Sciences, University of Yaoundé I (Cameroon), he completed a thesis in Cell Biology in the department of Morphology, University of Geneva (Switzerland) and a PhD in Human Genetics (University of Cape Town, South Africa). Other salient aspects of Prof Wonkam’s background include his education as a medical geneticist at a highly reputable genetics department in Geneva (Switzerland). He subsequently practices medical genetics in both European and African contexts.
His research interests are reflected in more than 150 peer-reviewed publications, which are in molecular, clinical, educational, and ethical aspects of medical and human genetics. His research focuses on 1) Psychosocial Burden and Genomics modifiers of Sickle Cell Disease (SCD); 2) Genetics of hearing loss, and 3) Ethical and educational Issues in human genetics in Africa.
Over the last 5 years, Prof Wonkam has successfully led an NIH/NHGRI funded SCD project, and as a Co-applicant of a Wellcome Trust - DELTAS grant to develop capacity in human Genetic on the African continent. He has recently been granted from NIH/NHLBI 3.7m USD, to establish a Sickle Africa Data Coordinating Centre (SADaCC), to develop various studies in Tanzania, Nigeria and Ghana. In addition under the new round of the H3Africa Consortium, he was Awarded 3 grants to support the Hearing impairment Genetic Studies in Africa (HI Genes Africa) from the NIH/NHGRI (1.25mUSD) and the AESA/Wellcome Trust (2.07mUSD); and another collaborative center grant from the NIH/NHGRI (2.5mUSD) to support the study of Incidental Findings in Genetic Research in Africa (IFGENERA).
He was awarded the 2003 Denber-Pinard Prize for the best thesis from the Faculty of Medicine, University of Geneva, Switzerland, and won the very competitive Clinical Genetics Society International Award for 2014, from the British Society of Genetic Medicine.
Prof Wonkam is associate Editor of the American Journal of Human Genetics, the American Journal of Medical Genetics, the Journal of Community Genetics, and Academic Editor of Plos One.
Prof Wonkam is president of the African Society of Human Genetics, co-chair of the steering committee of H3Africa consortium, Board member of the International Federation of Human Genetics Societies, committee’s member of the Global Genetic Medicine Collaborative (G2MC).

Keolu Fox

P. Keolu Fox, PhD

Title: "Missing Sequences: Why just increasing diversity in genome science is not enough"

Keolu Fox, PhD, Kānaka Maoli (Native Hawaiian) is an Assistant Professor at UC San Diego, affiliated with the Department of Anthropology, the Global Health Program, the Halıcıoğlu Data Science Institute, the Climate Action Lab, and the Indigenous Futures Lab. Dr. Fox has published numerous articles in the fields of human genetics, biomedicine, ancient genomics, and Indigenous data sovereignty, and is a recipient of grants from organizations including the NIH, the National Science Foundation (NSF), National Geographic, the American Association for Physical Anthropology, Emerson Collective, the Social Science Research Council and the Massachusetts Institute of Technology, SOLVE Initiative. Over the last decade Dr. Fox has become a world expert in building technological independence in Indigenous communities and has been recognized as a thought leader in the field of IDS by Indigenous community leaders and the National Congress for the American Indian, The Office of Hawaiian Affairs, the World Economic Forum, TED, National Geographic, IBM, the Chan Zuckerberg Initiative and more. Dr. Fox regularly teaches global health and CBPR courses and is passionate about training the next generation of Indigenous data scientists through grassroots initiatives like the Summer Internship for INdigenous peoples in Genomics.

V. Bonham

Vence L. Bonham, JD

Title: "Moving Beyond Race as a Population Descriptor in Human Genomics Research: A Bold Prediction for 2030"

Vence Bonham, J.D., is an associate investigator in the National Human Genome Research Institute (NHGRI) within the Division of Intramural Research's Social and Behavioral Research Branch. He leads the Health Disparities Unit, which investigates the equitable integration of new genomic knowledge and precision medicine into clinical settings. His research focuses primarily on the social implications of new genomic knowledge, including the role of genomics in exacerbating or ameliorating racial and ethnic health inequities. His research group studies sickle cell disease, a condition that has faced significant health disparity and could be further impacted by disparity in access to emerging curative genomic technologies. Mr. Bonham serves as the Senior Advisor to the NHGRI Director on Genomics and Health Disparities, which complements his research, as it allows contemporary genomic science and policy issues to inform his research program.

K. Claw

Katrina G. Claw, MD

Title: "Ethics and Best Practices in Research with Indigenous Communities"

Dr. Katrina Claw is an Assistant Professor at the University of Colorado Anschutz Medical Campus in the Division of Biomedical Informatics and Personalized Medicine. Her research program focuses on personalizing medicine, pharmacogenomics, and the ethical, social, and legal (ELSI) implications of genomic research with American Indian/Alaska Native and other Indigenous communities. Dr. Claw’s current research focuses on pharmacogenetic variation, tobacco cessation and nicotine metabolism, and examining the perspectives of genomic research in Native communities. Dr. Claw grew up on the Navajo Nation, and she obtained her BS in biology and BA in anthropology at Arizona State University; her PhD in genome sciences at the University of Washington in Seattle, WA in 2013.

M. Mau

Marjorie K. Mau, MD

Title: "The Promise (and Pitfalls) of Community Engaged Research: the Native Hawaiian Experience"

Dr. Marjorie Mau is the Myron "Pinky" Thompson Chair of Native Hawaiian Health Research and Professor at the John A. Burns School of Medicine in the Department of Native Hawaiian Health. Dr. Mau is the first Native Hawaiian woman endocrinologist and the inaugural chair of the Department of Native Hawaiian Health, the only clinical department in an accredited medical school dedicated to indigenous health in the USA. Dr. Mau has an illustrious career as an NIH-funded investigator since 1992 at the University of Hawaiʻi at Manoa. Her scientific career has been dedicated to advancing the science of diabetes and cardiometabolic health disparities among Native Hawaiians, Pacific Islanders and other indigenous populations (Alaska Natives and New Zealand Maoris) in the Pacific Region. She has published and contributed to more than 100 papers and has mentored scores of emerging scientists from diverse racial/ethnic backgrounds and of multiple disciplines.
Dr. Mau has been recognized by her peers over the years: In 2010, Dr. Mau became the only Native Hawaiian scientist selected as one of only 14 NIH-supported "Biomedical Faces of Science" highlighting role model scientists of diverse backgrounds. In 2015, she became the first woman physician in Hawai'i to be awarded Mastership of the American College of Physicians, the largest medical society in the USA. Creighton University School of Medicine recognized Dr. Mau in 2016 with their prestigious Alumni Merit Award as she became only the third woman to be so honored in the school's 150-year history. In 2017, she was selected as only 1 of 25 physicians in the USA to be conferred as a Fellow in the Royal College of Physicians during its celebration of 500 years as the oldest medical society in the world.
Today, Dr. Mau remains actively funded by multiple NIH research awards (R01, U01, U54, etc.) and continues to work collaboratively across clinical departments at the medical school as well as across the Mānoa campus with colleagues from nursing, social work, psychology, tropical medicine and agriculture and public health to name a few. Dr. Mau (used to) travel frequently to Alaska prior to COVID-19 pandemic, where she and her husband, Dr. Ted Mala maintain personal and work relationships with friends and family in Anchorage, Alaska. In Hawai'i, Dr. Mau provides community service to the Polynesian Voyaging Society, the 'Ohana Wa'a (family of voyaging canoes), and the Friends of Hokule'a and Hawai'iloa and spends as much time as possible with her twins, two grown sons and her supportive husband.

REGISTRATION OPEN!

Registration process takes less than 5 minutes

How to Register for FREE

  1. First click on register now button
  2. Complete the registration form and submit. You will receive a unique symposium link in your email. Note that the link admits only one.
  3. On February 24 & 25, at time of event click on the link you receive in your email to attend the symposium.