by CheckRare Staff | Jan 19, 2024
Mike Snape, PhD, chief scientific officer at AMO Pharma, talks about diagnosing myotonic dystrophy and its causes. Transcription: Just a little bit of background on myotonic dystrophy then. Myotonic dystrophy is a trinucleotide expansion repeat...
by CheckRare Staff | Jan 18, 2024
Dr. La Piana, MD, PhD, Professor in McGill’s Department of Neurology and Neurosurgery, explains her research in axonal spheroids and pigmented glia. Transcription: The disease-causing gene has been identified more or less 10 years ago. We are really at...
by CheckRare Staff | Jan 13, 2024
Robin Kate Kelley, MD, Professor of Clinical Medicine in the Division of Hematology/Oncology, University of California, San Francisco discusses treatment options for biliary tract cancers and the KEYNOTE-966 trial. Transcription: The KEYNOTE-966 trial was...
by CheckRare Staff | Jan 11, 2024
Björn Mellgård, MD, PhD, Vice President, Global Program Lead, Rare Genetics and Hematology, Takeda, discusses Adzynma ADAMTS13, recombinant-krhn (Adzynma), the first genetically engineered protein product indicated for prophylactic or on-demand enzyme replacement...
by CheckRare Staff | Jan 9, 2024
« Prev1 / 1Next »WHIM Syndrome: Overview, Diagnosis, and MagementWHIM Syndrome: Overview and Importance of Early Diagnosis (Chapter 1)Managing WHIM Syndrome (Chapter 2)Cancers and Screening Risks Associated With WHIM Syndrome (Chapter 3)« Prev1 /...
