Last month, Steve placed first in his division. Two days later, he was busy training for the next contest (May 2017).
At the ACMG Annual Clinical Genetics Meeting in Phoenix, AZ, O’Rouke et al presented data showing eteplirsen to slow the progression of pulmonary dysfunction in 12 boys who have been on the drug for 4 years (216 weeks).
On March 2, 2017, an article was published in Neurology Genetics titled, “Research Conference Summary from the 2014 International Task Force on ATP1A3-Related Disorders.”
Charcot-Marie-Tooth (CMT) disease is an inherited disorder affecting the peripheral motor and sensory neurons. Although it is an inherited condition, the main signs and symptoms such as decreased muscle size and weakness may not present until adolescence or early adulthood.
Did PTC just replace Marathon as the most hated pharma company out there?
Vogt-Koyanagi-Harada disease is a rare disease that can cause temporary blindness. The cause in not certain but it is believed to be an autoimmune disease that targets organs rich in melanin (skin, eyes, neural tissue).
Having encountered frequent inquiries about the similarities and differences between neuro-cranio-vertebral syndrome, filum disease and tethered cord syndrome, I would like to take the opportunity to address the definitions of the different diagnoses and how they relate to each other.
Cyprium Therapeutics is working with NICHD to develop 2 treatment options for patients with Menkes disease. CUTx-101 and a gene therapy.
On Sunday, April 2, 2017, the 16th Annual Comedy for a Cure will be held at The Globe Theatre at Universal Studios Hollywood.
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.