Raredr

Lysosomal Storage Disorders

Update on MLD Clinical Trials
Dean Suhr of the MLD Foundations provides an update on the latest clinical trials underway to treat metachromatic leukodystrophy (MLD), including an enzyme replacement therapy by Shire and a gene therapy trial based out of Italy.
Morgan Simmons, a graduate student at Emory University and intern at ThinkGenetics talks about some of the data being collected at ThinkGenetic to improve our understanding of the patients' experiences with various genetic conditions.
On Rare Disease Day 2017 in Washington, DC, we spoke with Marlo, a mother of a son with Batten disease. Marlo describes the long during to a proper diagnosis including a time when her son was misdiagnosed with autism.
Because of Pompe, I cannot eat, drink, walk, or breathe (on my own). So because of this limitations, I have to rely on some amazing technology such as a G-Tube, a motorized wheelchair, and a vent.
At WORLDSymposium, we talked with Elizabeth Smith of Emory University about her poster presentation involving 3 women suspected of having Fabry disease who underwent further genetic testing to confirm or deny the diagnosis.
SB-913 is a type of gene therapy that uses Sangamo's zinc finger nuclease (ZFN) genome editing technology to provide stable, continuous production of iduronate 2-sulfatase for the lifetime of the patient.
Li Ou, Ph.D., of the University of Minnesota talks about the studies he is involved with to develop a gene therapy for MPS I (Hurler Syndrome).
Don Clarke, Ph.D. of LA BioMed and Phoenix Nest talks about the mouse model they are using to develop a gene therapy for Sanfilippo syndrome
President Donald Trump’s First Address to a Joint Session of Congress included a special shout out to Megan Crowley, a 20-year-old sophomore student at University of Notre Dame who was diagnosed with Pompe disease when she was 15 months old.
Megan Crowley is a 20-year-old sophomore student at University of Notre Dame who was diagnosed with Pompe disease when she was 15 months old.
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