Genetic mechanisms underlying Duchenne muscular dystrophy point to potential treatments
Duchenne muscular dystrophy (DMD) is a rare hereditary disease that is associated with progressive muscle wasting. The ...
Gene variant could protect against ultra-rare seizure disorder, fruit fly research finds
One in 10 Americans live with a rare disease, which often lacks effective treatments. Such is the case for PIGA-CDG, an ultra ...
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Simple Congenital Heart Diseases Tied to Higher Epilepsy Risk
HealthDay News — Among simple congenital heart diseases (CHD), patent foramen ovale (PFO) is associated with a significantly higher risk for epilepsy, according to a study published in the February ...
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Patient with cystic fibrosis not diagnosed until age 23 years now treated with the new triple therapy Trikafta
The effect of cystic fibrosis on many organs and the frequent lung infections means that it is mostly diagnosed in childhood. Somehow, for Verônica Stasiak Bednarczuk, that diagnosis did not arrive ...