Tue, 11 Jul|
Genomic Equity Series: Influence of Autozygosity on Common Disease Risk
The Genomic Equity Series is a collaborative event series between Genomics England and the DSxHE genomics theme, which aims to share the latest experiences, projects and research of those working to improve equity in genomic medicine
Time & Location
11 Jul 2023, 13:00 BST – 12 Jul 2023, 14:00 BST
About the event
The Genomic Equity Series is a monthly online series hosted by the Diverse Data initiative at Genomics England, in collaboration with the Data Science for Health Equity community, which aims to share the latest experiences, projects and research of those working to improve equity in genomic medicine across the world.
For the July instalment of the Genomic Equity series, we are delighted to host Daniel Malawsky.
Daniel Malawsky is a PhD student with Dr. Hilary Martin at the Wellcome Sanger Institute, where he is studying the contribution of common and rare genetic variation to human health and cognitive development. He previously completed a MPhil with Dr. Martin and attained his undergraduate degrees in mathematics and biostatistics at the University of North Carolina at Chapel Hill. Prior to joining Hilary’s group, he worked with Prof. Timothy Gershon, researching therapeutic approaches to medulloblastoma treatment using single cell transcriptomics.
Parental relatedness (i.e. consanguinity) increases the fraction of an individual’s genome that is inherited identically from both their parents, a phenomenon termed autozygosity. Increased autozygosity is associated with rare congenital disorders and clinically-relevant quantitative traits such as total cholesterol and haemoglobin levels. We investigated associations between FROH (fraction of the genome in runs of homozygosity) and common diseases in Genes & Health (N=23,978 British South Asians), UK Biobank (N=397,184), and 23andMe, Inc. We show that restricting analysis to offspring of first cousins is an effective way of reducing confounding due to social/environmental correlates of FROH. Within this group in G&H+UK Biobank, we found experiment-wide significant associations between FROH and twelve common diseases. We replicated the associations with type 2 diabetes (T2D) and post-traumatic stress disorder via within-sibling analysis in 23andMe (median N=480,282). We estimated that autozygosity due to consanguinity accounts for 5-18% of T2D cases amongst British Pakistanis. Our work highlights the possibility of widespread non-additive effects on common diseases and has important implications for global populations with high rates of consanguinity.
13:00 Welcome to the Genomic Equity Series
13:05 Presentation by Daniel Malawsky
13:45 Discussion & Audience Q&A
PS Can't make it? Never fear, all our events will be recorded and uploaded onto MindTheGap.Health
Any questions, please email email@example.com.
About the series organisers
Diverse Data is a new initiative set up by Genomics England to reduce inequalities in genomic medicine, by ensuring that all patients, regardless of their background, receive the same quality of genomics-enabled personalized medicine, supported by the latest research on people like them. The initiative will be setting up new research projects, working closely with community groups, conducting large-scale sequencing efforts, and will be building practical tools to support everyone in the genomics community to put equity at the centre of their work. Find out more about the initiative here.
Data Science for Health Equity
Data Science for Health Equity is global community that brings together experts, enthusiasts and hobbyists working at the intersection of data science and health inequalities to ensure that the latest research and innovations improve health equity. Find out more about the community here.