by CheckRare Staff | Aug 15, 2023
Cary Harding, MD, at Oregon Health & Science University (OHSU), provides an overview of phenylketonuria (PKU). Toxic levels of the amino acid phenylalanine (Phe) cause PKU, a rare metabolic disease that can result in neurocognitive deficits....
by CheckRare Staff | Aug 14, 2023
Patrick Lewis, PharmD, Senior Director, Medical Affairs at Amryt Pharma provides an overview of acromegaly and why diagnostic delays for this rare disease are so common. Acromegaly is a rare endocrine disorder caused by excess levels of growth hormone...
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,...
