Top Medical News Today

Newborn Screening for Pompe Disease - A Catalyst For Understanding a Rare Disease
At WORLDSymposium in San Diego, we talked with Priya Kishnani, MD, PhD about the amount of new information gained by studying patients diagnosed at birth with Pompe disease. The data is dramatically changing our understanding of Pompe disease and its management.
Remote Camping with a Disability
"He has a new lease on life and is looking at things through a different lens, in terms of what is possible"
Shire's Rare Disease Products
Hartmann Wellhoefer, MD, head of medical affairs at Shire talks about the company's recent data for Hunter syndrome, Gaucher disease, Fabry disease, and hereditary angioedema (HAE).
Factors of Managing Your Child's Rare Disease
In an interview with Marielle, a parent of a child with MPSII (Hunter Syndrome) she discusses the other expenses some might not be aware of for caring for a child with a rare disease.
Gene Therapy for Fabry Disease Now a Reality
48-year-old Calgary resident Darren Bidulka is grateful that he no longer has to do the biweekly infusions
Phase 3 Hepatocellular Carcinoma Trial Fails
A phase 3 trial for MET-overexpressing hepatocellular carcinoma (HCC) failed to reach its endpoint.
Team Hannah vs GAN: We Decided to Fight
Hannah is a young patient battling gigantic axonal neuropathy (GAN).
Phase 2 Trial of Weekly GH vs Daily GH Shows Encouraging Results
A Phase 2 clinical trial showed that weekly GH can be as good as daily GH.
Latest Data from The Gaucher Outcome Survey
Some interesting data was presented at WORLDSymposium from the Gaucher Outcome Survey (GOS), an international registry for patients with a confirmed diagnosis of Gaucher disease.
Late-onset Pompe Disease is Not Very Late
Lauren Bailey, MS, CGC at Duke University talks about their recent study in which 5 babies were diagnosed with late-onset Pompe disease via newborn screening who began to show symptoms in the first few years of life.
RareDR Resource Guide
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