GeneticsDiagnostic and genetic testing
- Patient-Centric Perspective Offers Key Insights into Upcoming Mitochondrial Treatment Studies
As clinical trials gear up with the aim of attaining the first FDA-approved treatments for mitochondrial disease, a new study reports for the first time what patients and families say would motivate them for or against participating in such research trials. Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy).
- FDA Approves Palynziq for PKU, a Rare Genetic Disease
The U.S. Food and Drug Administration today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU). Patients with PKU are born with an inability to break down phenylalanine (Phe), an amino …
- Overview of Lysosomal Storage Disorders
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses lysosomal storage diseases, a group of inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
- FDA Votes in Favor of Familial Chylomicronemia Syndrome Treatment
An FDA advisory committee voted to recommend the approval of volanesorsen (Waylivra), an RNAi drug for rare lipid disorder familial chylomicronemia syndrome (FCS).
- Review of Infants with Congenital Hyperinsulinism Shows Surgery Benefits
A review of nearly 500 cases of infants with severe congenital hyperinsulinism who underwent partial or near-total removal of their pancreas for persistent hypoglycemia at Children’s Hospital of Philadelphia (CHOP) showed that surgeons can cure virtually all patients with the focal, or localized, form of the rare genetic disease.
- Neurotrope BioSciences’ Upcoming Milestones in Fragile X Disease
https://www.youtube.com/watch?v=n0PMCbtU_o8 Dr. Daniel Alkon of Neurotrope BioSciences discusses some of his company’s upcoming milestones, including starting a clinical trial for Fragile X. Dr. Alkon also discusses his comapy’s mechanistic appr …
- FDA Approves Combination Therapy for Melanoma Mutation
The U.S. Food and Drug Administration (FDA) approved the combination of dabrafenib (Tafinlar) and trametinib (Mekinist) for the adjuvant treatment of patients with resected, stage III melanoma with BRAFV600 mutations. The combination is already approve …
- Challenges of Diagnosing Patients for PAP and Lung Infection in Cystic Fibrosis
https://www.youtube.com/watch?v=5-VvFeW6GUI Rob Neville of Savara Pharmaceuticals discusses some of the challenges of diangosing PAP and NTM lung infection, two diseases Savara targets. Molgradex is an inhaled formulation of recombinant human GM …
- NIH Publishes Genomic Analysis of 33 Cancer Types
Growing cancer cells (in purple) are surrounded by healthy cells (in pink), illustrating a primary tumor spreading to other parts of the body through the circulatory system. Darryl Leja, NHGRI. National Institutes of Health (NIH) funded researchers com …
- NIH Team Confirms New Genetic Mutation Link to ALS
Kinesin family member 5A (KIF5A), a gene previously linked to two rare neurodegenerative disorders, has been definitively connected to amyotrophic lateral sclerosis (ALS) by an international team from several of the world’s top ALS research labs. The f …