Western Bias in Human Genetic Studies Is 'Both Scientifically Damaging and Unfair' 21 March 2019

Total Page：16

File Type：pdf, Size：1020Kb

Western bias in human genetic studies is 'both scientifically damaging and unfair' 21 March 2019 human evolutionary geneticist at the University of Pennsylvania. "We may be missing genetic variants that play an important role in health and disease across ethnically diverse populations, which may have deleterious consequences in terms of disease prevention and treatment." Tishkoff and her colleagues, including Giorgio Sirugo, University of Pennsylvania, and Scott M. Williams, Case Western Reserve University School of Medicine, report that, as of 2018, individuals included in genome-wide association studies (GWAS) were 78% European, 10% Asian, 2% African, 1% Hispanic, and Sheko men taking part in a lactose tolerance test during a study by the Tishkoff Lab in Ethiopia. Credit: Tishkoff Lab Despite efforts to include more diversity in research, people of European ancestry continue to be vastly overrepresented and ethnically diverse populations largely excluded from human genomics research, according to the authors of a commentary published March 21 in a special issue of the journal Cell on human genetics. This lack of diversity in studies has serious consequences for science and medicine. For one thing, they say, the bias in the data limits scientists' understanding of the genetic and environmental factors influencing health and disease. It also limits the ability to make accurate predictions of a person's disease risk based on genetics and to develop new and potentially more effective treatment approaches. "Leaving entire populations out of human genetic studies is both scientifically damaging and unfair," says co-author Sarah Tishkoff (@SarahTishkoff), a 1 / 2 APA citation: Western bias in human genetic studies is 'both scientifically damaging and unfair' (2019, March 21) retrieved 29 September 2021 from https://medicalxpress.com/news/2019-03-western-bias- human-genetic-scientifically.html This document is subject to copyright. Apart from any fair dealing for the purpose of private study or research, no part may be reproduced without the written permission. The content is provided for information purposes only. 2 / 2 Powered by TCPDF (www.tcpdf.org).

Copy Link

Recommended publications

International Symposium of Human Genetics
ichg2022.com THE INTERNATIONAL The 14th International Congress of Human FEDERATION OF HUMAN Genetics was postponed GENETICS SOCIETIES by almost a year due to the COVID-19 pandemic, PRESENTS: and the LOC has decided to host a Symposium in 2021 as a taster of what will be expected at the International Congress in 2022. We are bringing together Symposium on exceptional speakers for two sessions on topics that are highly relevant to Human Genetics human geneticists and these discussions will be picked up again at the 9 & 10 March 2021 main meeting in 2022. DAY 1: The shaping of modern Tue 9 March 2021 3pm - 5pm human genomes: migration, admixture & Wed 10 March 2021 9am - 11 am ancient genomic Times are listed in SAST introgression DAY 2: Infectious diseases and Virtual Conference Platform our genome Programme: T U E S D A Y , 9 M A R C H 2 0 2 1 1 5 : 0 0 - 1 7 : 0 0 S A S T ( G M T + 2 ) The shaping of modern human genomes: migration, admixture and ancient genomic introgression - Chaired by Charles Rotimi & Michele Ramsay Since the emergence of modern man in Africa between 400,000 and 600,000 years ago, evolutionary forces have been shaping the human genome. Studies on the genomes of people living today and some who died thousands of years ago provide clues to our past and we begin to unravel a story of migration, admixture and adaptation. In this session we start with African population genomics, then adaptive signatures and introgression form extinct hominids to the peopling of Asia.
[Show full text]
September 29 & 30, 2020
SALTIEL LIFE SCIENCES SYMPOSIUM BROADENING THE BIOSCIENCES: EXPLORING DIVERSE APPROACHES TO BIOLOGICAL AND BIOMEDICAL RESEARCH SEPTEMBER 29 & 30, 2020 NINETEENTH ANNUAL LSI SYMPOSIUM ZOOM WEBINAR #LSIsymposium2020 SCHEDULE TUESDAY, SEPTEMBER 29 2:00 P.M. TALK SESSION 2: SOCIAL BIOMIMICRY Welcome Roger D. Cone, Ph.D. 3:10 P.M. Vice Provost and Director, Biosciences Initiative; Towards living robots: Using biology to make better Mary Sue Coleman Director, Life Sciences Institute; machines Professor of Molecular and Integrative Physiology, Medical School; Professor of Molecular, Cellular, and Barry A. Trimmer, Ph.D. Developmental Biology, College of Literature, Science, Henry Bromfield Pearson Professor of Natural Sciences; and the Arts, University of Michigan Director, Neuromechanics and Biomimetic Devices Laboratory, School of Arts and Sciences, Tufts University Marschall S. Runge, M.D., Ph.D. Dean, Medical School, University of Michigan; Executive 4:05 P.M. Vice President, Medical Affairs, CEO, Michigan Medicine How the physics of slithering can teach multilegged robots to walk TALK SESSION 1: HUMAN ADAPTATION Shai Revzen, Ph.D. AND EVOLUTION Associate Professor of Electrical Engineering and Computer Science, College of Engineering, University of Michigan 2:10 P.M. Introduction of the Mary Sue and Kenneth Coleman Life 4:25 P.M. Sciences Lecturer What wasps can teach us about the evolution of Alan R. Saltiel, Ph.D. animal minds Professor and Director, Institute for Diabetes and Elizabeth Tibbetts, Ph.D. Metabolic Health, University of California San Diego Professor of Ecology and Evolutionary Biology, College School of Medicine; Director, Life Sciences Institute of Literature, Science, and the Arts, University of Michigan (2002–2015) 5:20 P.M.
[Show full text]
2021 the Packard Fellowships for Science and Engineering
The Packard Fellowships for Science and Engineering 2021 Guidelines The Packard Fellowships for Science and Engineering $175,000 paid each year, $17,500 is available to the program invests in future leaders who have the university as compensation for administrative costs. freedom to take risks, explore new frontiers in their fields of study, and follow uncharted paths that may Over the past 32 years, the Foundation has awarded lead to groundbreaking discoveries. $447 million to support over 630 scientists and engineers from 54 top national universities. It is Program Overview among the nation's largest nongovernmental fellowships, designed to allow maximum flexibility on The success of the Hewlett-Packard Company was how the funding is used. Packard Fellows have gone built on technology, derived in large measure from on to receive many additional awards and honors, research and development in university laboratories. including Nobel Prizes in Chemistry and Physics, Fields Because the endowment of the David and Lucile Medals, Alan T. Waterman Awards, Breakthrough Packard Foundation would not have been possible Prizes and elections to the National Academy of without the success of HP and because the research Science, Engineering and Medicine. performed by university-educated engineers and scientists will provide the basis for future high-value What We Fund economic activity for the nation, the Foundation has a long-standing interest in strengthening both Candidates must be faculty members who are eligible university-based research and graduate education. to serve as principal investigators engaged in research in the natural and physical sciences or engineering In 1988, the Foundation established the Packard and must be within the first three years of their Fellowships for Science and Engineering to allow the faculty careers.
[Show full text]
The Road Ahead in Genetics and Genomics
VIEWPOINT against police brutality towards African American citizens4 have strengthened The road ahead in genetics and the antiracism movement and amplified demands for racial equity. genomics To be part of this movement and effect change will require humility. We must actively listen and learn from each other, Amy L. McGuire, Stacey Gabriel, Sarah A. Tishkoff , Ambroise Wonkam , especially when it is uncomfortable and our Aravinda Chakravarti , Eileen E. M. Furlong , Barbara Treutlein , own complicity may be implicated. It will Alexander Meissner , Howard Y. Chang , Núria López- Bigas , Eran Segal require solidarity and a recognition that and Jin- Soo Kim we are all connected through our common humanity. And it will require courage. It Abstract | In celebration of the 20th anniversary of Nature Reviews Genetics, we may seem like a platitude, but it is true that asked 12 leading researchers to reflect on the key challenges and opportunities nothing will change unless actual change is faced by the field of genetics and genomics. Keeping their particular research area made. If we continue to do things as they in mind, they take stock of the current state of play and emphasize the work that have always been done, we will end up where remains to be done over the next few years so that, ultimately, the benefits of we have always been. It is time to step into the discomfort and dare to do something genetic and genomic research can be felt by everyone. different. So what can we do differently to make Making genomics truly equitable These advancements raise many ethical genomics more equitable? I propose three Amy McGuire.
[Show full text]
National Institute of General Medical Sciences Findings February 2009
Findings FEBRUARY 2009 PAGE 2 African Adventures Tracing Our Past PAGE 10 Evolution Revolution SPECIAL ISSUE Finding Our Future Evolution February 2009 — The 200th Anniversary of Charles Darwin’s Birth U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of General Medical Sciences ••• Inside Science: Life in the Lab 1 Up Close With: Sarah Tishkoff 2 Genetic Footprints 6 The Big Family Tree 9 Up Close With: Joe Thornton 10 Past to Present 14 Joe the Scientist ••• Just Found: Quick Takes on Hot Science 5 Chimp Changes 8 Mystery Malaria 13 Bugs On Us 16 Lifestyle Effects Edited by Alison Davis under contract HHSN263200800496P Contributing Writers Emily Carlson Alison Davis Erin Fults Production Manager Susan Athey Online Editor Jilliene Mitchell Produced by the Ofﬁce of Communications and Public Liaison National Institute of General Medical Sciences National Institutes of Health U.S. Department of Health and Human Services http://www.nigms.nih.gov/ﬁndings On the Cover 1 Kidney Ischemia, Hamid Rabb, Johns Hopkins Medicine 2 G Protein, Protein Data Bank 6 7 8 3 Charles Darwin 4 Mouse Fibroblast Cells, Torsten Wittmann, Scripps Research Institute 1 2 9 10 5 Fruit Fly Embryo, Hyung Don Ryoo and Hermann Steller, Rockefeller University 6 Sarah Tishkoff, Tommy Leonardi 3 11 12 7 Samburu Girls, Jibril Hirbo 8 Bacteria Under Toenail, Darlyne Murawski, National Geographic Society 4 13 9 Africa Variation Map, Noah Rosenberg, Martin Soave 10 Berber Village, Luc Viatour, Wikimedia Commons 5 11 Joe Thornton, Jack Liu 12 Octopus, Joe Thornton 13 Ancestral Receptor, Joe Thornton Up Close With Sarah Tishkoff EVOLUTIONARY GENETICIST “In some contexts, I’m a geneticist.
[Show full text]
Human Computational Genomics Postdoctoral/Research Assistant
Human Computational Genomics Postdoctoral/Research Assistant Professor Positions at the University of Pennsylvania The Tishkoff lab at the University of Pennsylvania is seeking candidates at either the postdoctoral or Research Assistant Professor level for computational genomics positions. We are integrating genomic, transcriptomic, metagenomic, metabolomic, and epigenomic datasets generated from a large sample of ethnically diverse Africans. We use evolutionary, statistical, and population genetics approaches to understand the genetic architecture of a number of anthropometric, cardiovascular, metabolic, and immune related traits for which we have detailed phenotype data. We are also interested in inferring the demographic history of African populations, determining the genetic basis of adaptation during human evolutionary history, and characterizing the evolution of gene regulation in humans. We are applying functional genomics approaches to determine the impact of candidate causal variants on gene regulation and chromatin interaction. Candidates will have an opportunity to participate in a large NIH collaborative effort involving analysis of whole genome sequence data from over 100,000 participants. Candidates will also have an opportunity to develop creative, independent projects. There will be opportunities to work together with an outstanding team of collaborators with expertise in statistical and population genetics including Iain Matheison, Yoseph Barash, Ben Voight, Casey Brown, Yun Song, Hongzhe Li, Scott Williams, Eleazar Eskin, Josh Akey, and Sharon Browning. The ideal candidates will have skills in computer programming (PERL and/or Python and/or C++) and using statistical environments (R/MATLAB) as well as expertise in population genetics theory and/or quantitative analyses of complex traits. Experience with large genome-scale datasets is a plus.
[Show full text]
Tishkoff SA CV Bibliography.09.08.20.Web
Curriculum Vitae Sarah A. Tishkoff, Ph.D. Date: 09/08/20 Address: 428 Clinical Research Building 415 Curie Boulevard Philadelphia, PA 19104-6145 USA [email protected] Citizenship: U.S. citizen Education: 1989 B.S. University of California, Berkeley (Anthropology & Genetics) 1992 M.Phil. Yale University (Human Genetics, Kenneth Kidd adviser) 1996 Ph.D. Yale University (Genetics, Kenneth Kidd adviser) Postgraduate Training and Fellowship Appointments: 1997-2000 Postdoctoral Fellow, Pennsylvania State University, Department of Biology (Andrew Clark adviser) 1997 Visiting Research Fellow, South African Institute of Medical Research, University of the Witwatersrand, Department of Human Genetics (Trefor Jenkins adviser) Faculty Appointments: 2000-2005 Assistant Professor, University of Maryland, Department of Biology 2005-2007 Associate Professor, University of Maryland, Department of Biology 2008-2012 David and Lyn Silfen University Associate Professor, Department of Genetics, Perelman School of Medicine and Department of Biology, School of Arts and Sciences, University of Pennsylvania (Penn Integrates Knowledge Associate Professor) 2012-present David and Lyn Silfen University Professor, Department of Genetics, Perelman School of Medicine and Department of Biology, School of Arts and Sciences, University of Pennsylvania (Penn Integrates Knowledge Professor) Other Appointments: 2008-present Member, Genomics and Computational Biology (GCB) Graduate Group, Biomedical Graduate Studies, Perelman School of Medicine, University of Pennsylvania
[Show full text]
Methods for Robust Quantification of Rna Alternative Splicing in Heterogeneous Rna-Seq Datasets
University of Pennsylvania ScholarlyCommons Publicly Accessible Penn Dissertations 2019 Methods For Robust Quantification Of Rna Alternative Splicing In Heterogeneous Rna-Seq Datasets Scott Simon Norton University of Pennsylvania, [email protected] Follow this and additional works at: https://repository.upenn.edu/edissertations Part of the Bioinformatics Commons Recommended Citation Norton, Scott Simon, "Methods For Robust Quantification Of Rna Alternative Splicing In Heterogeneous Rna-Seq Datasets" (2019). Publicly Accessible Penn Dissertations. 3460. https://repository.upenn.edu/edissertations/3460 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/edissertations/3460 For more information, please contact [email protected]. Methods For Robust Quantification Of Rna Alternative Splicing In Heterogeneous Rna-Seq Datasets Abstract RNA alternative splicing is primarily responsible for transcriptome diversity and is relevant to human development and disease. However, current approaches to splicing quantication make simplifying assumptions which are violated when RNA sequencing data are heterogeneous. Influences from genetic and environmental background contribute to variability within a group of samples purported to represent the same biological condition. This work describes three methods which account for data heterogeneity when detecting differential RNA splicing between sample groups. First, a robust model is implemented for outlier detection within a group of purported replicates. Next, large RNA-seq datasets with high within- group variability are addressed with a statistical approach which retains power to detect changing splice junctions without sacricing specicity. Finally, applying these tools to call sQTLs in GTEx tissues has identified splicing ariationsv associated with risk loci for cardiovascular disease and anomalous skeletal development. Each of these methods correctly handles the properties of heterogeneous RNA-seq data to improve precision and reduce false discovery rate.
[Show full text]
Harnessing Epigenetics to Study Human Evolution
Available online at www.sciencedirect.com ScienceDirect Harnessing epigenetics to study human evolution 1,2,3 1,2,3 1,2 Yoav Mathov , Daniel Batyrev , Eran Meshorer and 1 Liran Carmel Recent advances in ancient DNA extraction and high- short half time of RNA, although ancient RNA has been throughput sequencing technologies enabled the high-quality successfully retrieved from relatively young plant seeds sequencing of archaic genomes, including the Neanderthal and [7] and from exceptionally preserved permafrost speci- the Denisovan. While comparisons with modern humans mens, including wolf skins and a 14 300-year-old canid revealed both archaic-specific and human-specific sequence liver [8]. Regardless, RNA from archaic humans has yet to changes, in the absence of gene expression information, be sequenced, triggering the use of indirect methods to understanding the functional implications of such genetic obtain information on their transcriptome. variations remains a major challenge. To study gene regulation in archaic humans, epigenetic research comes to our aid. DNA One strategy is identifying DNA sequence changes in methylation, which is highly correlated with transcription, can known regulatory elements. Following the high-coverage be directly measured in modern samples, as well as DNA from the Altai Neanderthal, almost 15 000 genetic reconstructed in ancient samples. This puts DNA methylation variants that separate archaic from modern humans have as a natural basis for comparative epigenetics between modern been suggested to potentially affect regulatory elements humans, archaic humans and nonhuman primates. [2]. Twenty-five of those were experimentally tested in neurons, and roughly half exerted expression changes [9]. Another approach relies on the fact that 2% of the Addresses genomes of present-day non-African individuals is intro- 1 Department of Genetics, The Alexander Silberman Institute of Life gressed from Neanderthals, and that the introgressed Sciences, The Hebrew University of Jerusalem, Edmond J.
[Show full text]
Dr. Gyungah R. Jun in Collaboration with Many Other Institution Receive
December XX, 2020 Dr. Gyungah R. Jun in Collaboration with many other institution Receive $4.8 Million Pilot Grant to Study Genetics of Alzheimer’s in Asian-Americans and Asian-Canadians Gyungah R. Jun, PhD, Assistant Professor of Medicine (Biomedical Genetics), together with 3 other PIs including Penn investigators included Li-San Wang, PhD, Professor of Pathology and Laboratory Medicine in the Perelman School of Medicine at the University of Pennsylvania, Helena Chui, of the University of Southern California, Van Ta Park, of the University of California—San Francisco, has been awarded a two-year, $4.8 million pilot grant by the National Institute on Aging (NIA) for studies of the genetics of Alzheimer’s disease in people of Asian heritage. Other participating institutions include University of British Columbia, University of California San Diego, Columbia University, Englewood Health, Indiana University, University of Massachusetts Boston, Stanford University, University of Southern California, Southern California Eye Institute, University of Toronto, and University of Washington. Alzheimer’s disease (AD), the most common cause of dementia among seniors, affects about 6.5 million people in the United States and Canada combined. Its prevalence is expected to increase significantly in the coming decades as these countries’ populations age. The cause or causes of AD are still unclear, and success testing therapeutic targets to slow or stop the disease process has been elusive in the last two decades despite many clinical trials. Scientists continue to seek clues to the disease’s origin in large genetic studies as well as studies of lifestyle and other factors. But while susceptibility to diseases may differ by ethnicity, and indeed small genetic studies suggest that Asians may have a distinct set of genetic risk factors for Alzheimer’s, studies of this disease (and many other complex diseases) so far have recruited mostly populations of European Ancestry.
[Show full text]
The International Federation of Human Genetics Societies Presents
ichg2022.com THE INTERNATIONAL The 14th International Congress of Human FEDERATION OF HUMAN Genetics was postponed GENETICS SOCIETIES by almost a year due to the COVID-19 pandemic, PRESENTS: and the LOC has decided to host a Symposium in 2021 as a taster of what will be expected at the International Congress in 2022. We are bringing together Symposium on exceptional speakers for two sessions on topics that are highly relevant to Human Genetics human geneticists and these discussions will be picked up again at the 9 & 10 March 2021 main meeting in 2022. DAY 1 - Tuesday, 9 March: The shaping of modern Tue 9 March 2021 3pm - 5pm human genomes: migration, admixture and Wed 10 March 2021 9am - 11 am adaption Times are listed in SAST (GMT+2) DAY 2 - Wednesday, 10 March: Infectious diseases and Virtual Conference Platform our genome Programme: T U E S D A Y , 9 M A R C H 2 0 2 1 1 5 : 0 0 - 1 7 : 0 0 S A S T ( G M T + 2 ) The shaping of modern human genomes: migration, admixture and adaption - Chaired by Charles Rotimi & Michele Ramsay Since the emergence of modern man in Africa between 400,000 and 600,000 years ago, evolutionary forces have been shaping the human genome. Studies on the genomes of people living today and some who died thousands of years ago provide clues to our past and we begin to unravel a story of migration, admixture and adaptation. In this session we start with African population genomics, then adaptive signatures and introgression form extinct hominids to the peopling of Asia.
[Show full text]
Humans Have Spread Globally, and Evolved Locally - New York Times
Humans Have Spread Globally, and Evolved Locally - New York Times http://www.nytimes.com/2007/06/26/science/26human.html?ei=5070&... June 26, 2007 Humans Have Spread Globally, and Evolved Locally By NICHOLAS WADE Historians often assume that they need pay no attention to human evolution because the process ground to a halt in the distant past. That assumption is looking less and less secure in light of new findings based on decoding human DNA. People have continued to evolve since leaving the ancestral homeland in northeastern Africa some 50,000 years ago, both through the random process known as genetic drift and through natural selection. The genome bears many fingerprints in places where natural selection has recently remolded the human clay, researchers have found, as people in the various continents adapted to new diseases, climates, diets and, perhaps, behavioral demands. A striking feature of many of these changes is that they are local. The genes under selective pressure found in one continent-based population or race are mostly different from those that occur in the others. These genes so far make up a small fraction of all human genes. A notable instance of recent natural selection is the emergence of lactose tolerance — the ability to digest lactose in adulthood — among the cattle-herding people of northern Europe some 5,000 years ago. Lactase, the enzyme that digests the principal sugar of milk, is usually switched off after weaning. But because of the great nutritional benefit for cattle herders of being able to digest lactose in adulthood, a genetic change that keeps the lactase gene switched on spread through the population.
[Show full text]