NIH’s NHGRI’s Director discusses the newly completed Human Genome and reflects on the past and future for genomics.
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Chief Medical Officer of Mitera, Dr. Kathy Salari, discusses reproductive genetic testing including non-invasive prenatal screening and carrier screening.
Drs. Stephen Kingsmore, Marshall Summar, and Ellen Thomas join Dr. Pawel Buczkowicz to discuss the diagnostic odyssey in this installment of the PhenoTips Speaker Series.
In honor of Rare Disease Month we explore Farber Disease with Dr. Alex Solyom and Katie Crosby of Aceragen.
Investigational therapies for primary mitochondrial myopathy are discussed with Dr. Alejandro Dorenbaum in honor of rare disease month.
Dr. Banu Arun and Dr. Mark Robson discuss how to prepare practitioners for the future of cancer genetics in this installment of the PhenoTips Speaker Series.
The Founder and President of Cure Rare Disease discusses treatments for Duchenne Muscular Dystrophy.