Challenges
Experts share their insights in diagnosing and managing rare conditions
Metachromatic Leukodystrophy and the MLD FoundationDean Suhr, President of the MLD Foundation, provides an overview of Metachromatic leukodystrophy (MLD) and an overview of his advoacy organization.
NIH Director Francis Collins Talks About Rare Disease DayDr. Collins began his talk by acknowledging that Rare Diseases are more relevant that ever with all of NIH’s 27 institutes and centers having some investment in rare disease research.
Michael E. Shy, MD: Natural History, Biomarkers, and Gene IdentificationMichael E. Shy, MD, Director, Division of Neuromuscular Medicine, Neurology at the University of Iowa Health Care, discusses Natural History, Biomarkers, and Gene Identification during the Rare Disease Day at NIH 2019 on Thursday, February 28, 2019.
James C. Greenwood, President of the Biotechnology Innovation Organization (BIO)James C. Greenwood is President and CEO of the Biotechnology Innovation Organization (BIO) in Washington, DC. BIO represents 1,000 biotechnology companies, academic institutions, state biotechnology centers, and related organizations across the United States and in more than 30 countries worldwide.
Autism Spectrum DisorderArmando Anido, Chief Executive Officer at Zynerba Pharmaceuticals discusses Autism Spectrum Disorder (ASD), a developmental disorder that affects communication and behavior. Zynerba is pursuing new therapeutic options for ASD and other neuropsychiatric conditions.
Biallelic RPE65 Mutation-Associated Retinal DystrophyRon Philip, Chief Commercial Officer of Spark Therapeutics, discusses biallelic RPE65 mutation-associated retinal dystrophy, a rare retinal disorder.
Fragile X Syndrome Overview and the CONNECT-FX Clinical TrialArmando Anido, Chief Executive Officer at Zynerba Pharmaceuticals discusses Fragile X syndrome, a genetic condition involving changes in part of the X chromosome.
Luxturna: Gene Therapy for Biallelic RPE65 Mutation-Associated Retinal DystrophyRon Philip, Chief Commercial Officer of Spark Therapeutics, discusses his company’s first approved product, Luxturna — a one-time gene therapy indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
Acute Hepatic Porphyria: Overview and Emerging TherapiesPushkal Garg, MD, Chief Medical Officer at Alnylam discusses Acute Hepatic Porphyria (AHPs) and givosiran, an investigational, subcutaneously administered RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) in development for the treatment of AHP.
Management of Hematologic Diseases With Cellular and ImmunotherapiesMohamad Mohty, MD, discusses the management of hematologic diseases with cellular and immune therapies such as Chimeric antigen receptor (CAR) T cells, which have recently emerged as a novel therapeutic approach, yielding complete responses even in heavily pretreated patients with leukemia, lymphoma, and myeloma.