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.
In episode 18 of the GA4GH OmicsXchange podcast, we speak with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI), on the Advances in Genome Biology and Technology (AGBT) Precision Health Meeting. Visit agbt.org to register for the Precision Health Meeting, which takes place 8–10 September 2022 in San Diego, USA.
OmicsXchange podcast, we speak with Dr. Eric Green, Director of the National Human Genome Research Institute (NHGRI), on the Advances in Genome Biology and Technology (AGBT) Precision Health Meeting. Visit agbt.org to register for the Precision Health Meeting, which takes place 8–10 September, 2022 in San Diego, USA.
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.
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