by Peter Ciszewski | Mar 4, 2021
Regina Philipps, mother of a three-year-old diagnosed with spinal muscular atrophy (SMA), discusses what she would like clinicians to talk about with parents of recently diagnosed SMA. Ms. Philipps, who learned of the diagnosis when her child was 10 months old,...
by Peter Ciszewski | Mar 3, 2021
Melanie McKay, mother of a young boy with infantile-onset Pompe disease, talks about the importance of newborn screening for this rare, treatable condition. Pompe disease is a rare inherited lysosomal storage disorder due to an inadequate level of the enzyme...
by Peter Ciszewski | Mar 2, 2021
Stephanie Cherqui, PhD, from the University of California, San Diego shares her insights into our current misunderstandings of cystinosis. Cystinosis is a rare lysosomal storage disorder due to mutations in the CTNS gene that leads to the accumulation of...
by Peter Ciszewski | Mar 1, 2021
Marsha Lanes, MS, CGC, of the National Organization for Rare Disorders (NORD), talks about the history of NORD and its current role in helping to raise awareness, educate, and provide support for the 25-30 million Americans with a rare disease. NORD is a...
by Peter Ciszewski | Feb 27, 2021
Dawn Laney, MS, CGC, CCRC, Assistant Professor, and Director of Emory Genetic Clinical Trials Center, discusses research suggesting advanced Fabry patients are at high risk for severe COVID-19 infection. Fabry disease is a rare X-linked lysosomal storage...
