GeneticsDiagnostic and genetic testing
Petra Oliva, PhD of Archimed Life Science explains the value of testing for both Gaucher disease and Neimann-Pick disease in persons suspected of having one of those rare conditions.
Barbara Burton, MD of Lurie Children’s Hospital of Chicago explains Morquio syndrome type A, a rare lysosomal storage disorder.
Farzana Sayani, MD, Assistant Professor of Medicine at the Hospital of the University of Pennsylvania explains the pathophysiology of sickle cell disease.
Dr. John Mitchell explains the pathophysiology, symptoms, and treatment options for Farber disease.
Barbara Burton, MD of Lurie Children’s Hospital of Chicago discusses the latest results from the Morquio A Registry Study (MARS).
Dwight Koebel, MD, PhD, of Duke University School of Medicine provides an update on the phase 1 study of gene therapy to treat late-onset Pompe disease.
Maria Picone is the mother of a child with Prader-Willi syndrome as well as founder/CEO of TREND Community – a company that collects anecdotal information from patients and caregivers so that the information can be quantified and assessed more efficiently.
Dianne Linnehan, Director of Operations of the Phelan-McDermid Syndrome Foundation is also the parent of a person with Phelan-McDermid syndrome, and as she explains in this interview, her daughter provides her with immeasurable strength and joy, despite the rare disease that afflicts her.
Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about RSUP (Recommended Uniform Screening Panel).
This week, numerous studies were published in peer-reviewed journals that highlight some of the innovative work that researchers around the world are doing to advance our understanding of rare conditions.