by Madaline Spencer | Mar 19, 2024
Ozlem Goker-Alpan, MD, Founder and CMO of Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), discusses newborn screening for lysosomal disorders. Newborn screening plays a crucial role in the diagnosis of rare diseases. Waiting for the...
by Madaline Spencer | Mar 15, 2024
Roberto Giugliani, MD, PhD, discusses the RAINBOW clinical trial testing the tolerability and safety of nizubaglustat for Niemann-Pick type C and GM2 gangliosidosis. Niemann-Pick Type C Niemann-Pick disease is a genetic metabolic disorder in which...
by Madaline Spencer | Mar 13, 2024
Aki Ko, Chief Executive Officer and co-founder of Elixirgen Therapeutics, discusses treatment advances in telomere biology disorders. Telomere biology disorders are a group of conditions that occur when patients have premature or faster shortening of...
by Madaline Spencer | Mar 11, 2024
Alaa Hamed, MD, Global Head of Medical Affairs Rare Diseases at Sanofi, discusses the importance of rare disease registries. One of the fundamental challenges of rare diseases is the scarcity of data. While traditional medical research utilizes large...
by Peter Ciszewski | Mar 10, 2024
At the Rare Disease Day symposium held at the National Institutes of Health (NIH), numerous speakers took the stage to share their knowledge about managing and/or advocating for rare disease patients. One of the highlights of the day however, was from a speaker with...
