by CheckRare Staff | Aug 11, 2023
Andrea Meredith, Ph.D., Professor of Physiology at the University of Maryland School of Medicine, explains KCNMA1-linked channelopathy. KCNMA1-linked channelopathy is a rare neurological disorder due to mutations in the KCNMA1 gene. That gene encodes the...
by CheckRare Staff | Aug 10, 2023
Sindhu Ramchandren, MD, Global Clinical Leader at Janssen Pharmaceuticals, explains the pathophysiology of myasthenia gravis and the need for more targeted therapies. Myasthenia gravis is an autoimmune, neuromuscular disorder characterized by weakness of the...
by CheckRare Staff | Aug 9, 2023
Cary Harding, MD, Professor of Molecular and Medical Genetics at Oregon Health & Science University (OHSU), highlights the data evaluating SYNB1934 to treat phenylketonuria (PKU). Uncontrollable levels of the amino acid phenylalanine (Phe) cause PKU,...
by CheckRare Staff | Aug 8, 2023
Scott Schobel, MD, chief medical officer at Vico Therapeutics discussed the latest data testing an antisense therapy to treat Huntington’s disease and spinocerebellar ataxia type 1 (SCA1) and type 3 (SCA3). Huntington’s disease manifests as a rare...
by CheckRare Staff | Aug 7, 2023
Philip L. Pearl, MD, Director, Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, William G. Lennox Chair and Professor of Neurology, Harvard Medical School, Boston, MA discusses aromatic L-amino acid decarboxylase (AADC) deficiency and the recently...
