Dr Heidi Rehm – Genomics and Pathology, and the Precision Health Meeting

What we discuss with Dr. Rehm:

How she became interested in biology and genomics, studying the genetic basis of hearing loss, and why she thinks the cochlea is a thing of beauty, how she got involved with the Broad Institute, and her work there, some of the barriers to the use of genetics in medicine, her thoughts on free data exchange among genomics researchers, matchmaker Exchange, and how it is important for genomics research, the role of genomics in pathology, both now and in the future and the Precision Health Meeting, and how she became involved.

Nancy J. Cox

Dr. Nancy Cox is a quantitative human geneticist and the Mary Phillips Edmonds Gray Professor of Genetics at Vanderbilt University Medical Center. Dr. Cox’s research interests focus on large-scale integration of genomics with methods for the analysis of genome data on translational phenotypes and common diseases, such as Alzheimer’s disease. Dr. Cox is a member of the Internal Advisory Committee and an investigator in the Vanderbilt Alzheimer’s Disease Research Center.

Dr. Cox completed her doctoral degree in human genetics at Yale University, a postdoctoral fellowship in psychiatric genetics at Washington University, and a postdoctoral fellowship in the genetics of diabetes at University of Pennsylvania. Dr. Cox joined the Vanderbilt faculty in 2015.

Dame Sue Hill

Professor Dame Sue Hill OBE PhD DSC CBiol FRSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England – providing expert clinical scientific advice across the health system and head of profession for the healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms.

Sue is the Senior Responsible Officer for Genomics in NHS England, leading developments in this area, having previously established the NHS Genomic Medicine Centres and led the NHS contribution to the 100,000 Genomes Project. She is a respiratory scientist by background with an international academic and clinical research reputation.

Dr. Kyle Farh

Dr. Kyle Farh is Vice President at Illumina’s Artificial Intelligence (AI) Lab for Genome Interpretation, where he deciphers the clinical impact of genetic variants in rare and common diseases. Towards this goal, Kyle leads a multidisciplinary research team of deep learning scientists, statistical geneticists, and molecular biologists. Prior to joining Illumina, Kyle was an attending physician at Boston Children’s Hospital. Kyle completed his postdoc fellowship in Medical and Population Genetics at the Broad Institute, and received his PhD in Molecular Biology at MIT, MD at Harvard Medical School, and BS in Computer Science from Rice University.

Melissa Haendel

Melissa Haendel is the Chief Research Informatics Officer (CRIO) for the University of Colorado Anschutz Medical Campus. She is responsible for transforming the campus use of information and information systems to accelerate biomedical discoveries, streamline health system operations, and continuously improve patient care. Haendel also holds an appointment as a professor of biochemistry and molecular genetics at the CU School of Medicine. She joined CU from the Oregon Health & Science University, where she led the Translational and Integrative Sciences Laboratory and is a professor of medical informatics and clinical epidemiology.

Eimear Kenny

Eimear Kenny, PhD, is the Founding Director of the Institute for Genomic Health, building resources for integrating genomic information and AI in routine clinical care, and supporting the sequencing and return of results to a diverse patients in the Mount Sinai Health System. She also the Founding Director of the Center for Translational Genomics and a Professor of Medicine and Genetics, at the Icahn School of Medicine at Mount Sinai, working on computational and translational genomic research.She is Principal Investigator in many large NIH-funded international consortium focused on computational genomics and genomic medicine, including eMERGE, PRIMED, CSER, GSP, TOPMed, PAGE, and HPRC. Continue reading

Penelope Bonnen

Penelope Bonnen, an Associate Professor of Molecular and Human Genetics at Baylor College of Medicine, Dr. Bonnen is applying her acumen in bioinformatics and human genetics to gene discovery studies for an array of phenotypes and diseases including disorders caused by mitochondrial dysfunction and cancer. The Bonnen lab develops and applies methods for analyzing next-generation sequence data and interpretation of human variation. We collaborate closely with clinicians to translate our findings to clinical and diagnostic settings.

Specialties: human genetics, genomics, functional genomics, bioinformatics, population genetics, mitochondrial disease, metabolic disease, cancer, NGS