Rare and Genetic Disease Network


Niemann-Pick Disease

Niemann-Pick disease (NPD) is a group of inherited metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain.

Venclexta Data Positive for AML

Rod Humerickhouse, MD, PhD, asset strategy leader at AbbVie discusses some of the Venclexta (Venetoclax) data presented at this year’s 60th American Society of Hematology’s 2018 annual meeting in San Diego.

Eosinophilic Granulomatosis With Polyangiitis

Eosinophilic granulomatosis with polyangiitis (Churg Strauss syndrome) is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis).

Hereditary TTR Amyloidosis and the NEURO-TTR Study

Morie Gertz, MD, Hematologist and Chair of Internal Medicine at Mayo Clinic discussed the current unmet needs in the treatment of hereditary TTR amyloidosis, antisense technology, inotersen, and the NEURO-TTR study.

Vascular Ehlers-Danlos Syndrome (vEDS)

William T. Andrews, MD, FACP, Chief Medical Officer of Acer Therapeutics discusses his company’s focus on Vascular Ehlers-Danlos Syndrome (vEDS), an inherited connective tissue disorder that is caused by defects in a protein called collagen.

New Treatment Option for Primary Hemophagocytic Lymphohistiocytosis

Michael Jordan, MD, a physician-scientist in the division of Bone Marrow Transplantation and Immune Deficiency at Cincinnati Children’s Hospital Medical Center HLH Center of Excellence, discusses primary hemophagocytic lymphohistiocytosis (HLH) and the phase 2/3 clinical trial presented at the American Society of Hematology (ASH) Annual Meeting in San Diego.

ASH ’18: Management of Hematologic Diseases With Cellular and Immunotherapies

Mohamad 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.

Working With Dravet Syndrome Advocacy Groups

Barry Ticho, MD, Chief Medical Officer at Stoke Therapeutics, discusses how his company works with Dravet syndrome advocacy groups, including the Dravet Syndrome Foundation (DSF).

FDA Approves Drug for Solid Tumors and NTRK Gene Fusions

The U.S. Food and Drug Administration granted accelerated approval to Vitrakvi (larotrectinib,  Loxo Oncology and Bayer) for the treatment of patients with solid tumors who have an NTRK gene fusion without a known resistance mutation.

Special Reports