# Metachromatic Leukodystrophy
शीर्ष पॉडकास्ट एपिसोड
अपडेट किया गया:
metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering that acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation.
#26. Chris ran The North Pole Marathon for metachromatic leukodystrophy
Chris Seymour ran the Marathon Grand Slam, aka 7 marathons on 7 continents plus a Marathon in the North Pole, while raising funds for metachromatic leukodystrophy, or MLD for short, a very rare disease that only around 41,000 people in the world are living with. All the scoop about this challenge, …
The Leukodystrophies for the FRCR Exams
X Linked Adrenoleukodystrophy. Metachromatic Leukodystrophy. Alexander Disease. Canavan Disease.
Treading Water with April Robson, Part Two
After learning her toddler had metachromatic leukodystrophy, April Robson made it her mission to find joy, purpose and beauty in the everyday moments with her family.In the second half of April's story, she shares how we can care for friends who are facing a painful season, what it means to be grat…
Treading Water with April Robson, Part One
April Robson had a picture-perfect family: a husband who once saved her in his phone as "April Hot Girl," two beautiful daughters, a son on the way and a loving community of (in-person and online) friends. Then she learned her two-year-old had metachromatic leukodystrophy, a rare, degenerative, ter…
Bobby Gaspar: CEO of Orchard Therapeutics
Bobby Gaspar, founder and CEO of Orchard Therapeutics, speaks with BioBoss host John Simboli about leadership and how Orchard Therapeutics is pursuing the opportunity to change medicine and change the lives of people with severe genetic diseases.
NORD - Supporting the Rare Disease Community
The National Organization of Rare Disorders has been helping patients, caregivers, organizations, researchers, and Clinicians for almost 40 years.
Introduction by Tom Rhoads (00:02):
There are over 300 million people living with one or more of over 6,000 identified, rare diseases around the world…
After Pruning Orchard, Gaspar Focuses on High Value Opportunities
Orchard Therapeutics founder and former chief scientific officer Bobby Gaspar took the helm of the gene therapy company in March to replace CEO Mark Rothera when he stepped down. Since taking over, Gaspar has led a restructuring of the company and narrowed the focus to prioritize what it saw as hig…
13: Megan Gillett: Enduring A Terminal Diagnosis
In this episode I'm joined by Megan Gillett to chat about her daughter Nellie, who has the terminal genetic condition Metachromatic Leukodystrophy (MLD). Although this is obviously an emotional chat I was blown away by Megan's positive attitude to life despite Nellie's diagnosis. We speak about the…
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