Target Identified For Rare Inherited Neurological Disease In Men

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Researchers at University of California, San Diego School of Medicine have identified the mechanism by which a rare, inherited neurodegenerative disease causes often crippling muscle weakness in men, in addition to reduced fertility. The study, published August 10 in the journal Nature Neuroscience, shows that […]

Hunting For The Genetic Secret To Rare Disease

Geneticist Ohad Birk Consults with a Doctor in a Bedouin Village Before Birk discovered the genes responsible for PCCA, he worked on uncovering the genetic causes of certain birth defects among Bedouin people. Dani Machlis

It was more than ten years ago that Dr. Tally Lerman-Sagie first saw babies with PCCA, a genetic disorder that causes severe mental and physical disabilities and brain atrophy—all before age three. Parents would bring in months-old infants with these unexplained seizures. Lerman-Sagie tested the babies as fully as she could in […]

Protecting Children with Rare & Undiagnosed Disease From Discrimination: A Survey


A new survey has been circulating that has the potential to provide information which may help protect children’s rights and eliminate discrimination against children with rare or undiagnosed diseases. With recent news stories such as the case of Justina Pelletier of Boston Children’s Hospital, some […]

Study to be Conducted on Fathers of Children with Special Needs and Internet Use


Are you the father of one or more children? Are you 18 years old or older? Is your child under the age of 18? Does your child have special needs? (e.g. ADHD, visual impairment, hearing impairment, hyperactivity, Aspergers, etc.) Participate in a research study at […]

Rare Alexander Disease Yields Clues About Broader Brain Pathology

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Alexander disease is a devastating brain disease that almost nobody has heard of— unless someone in the family is afflicted with it. Alexander disease strikes young or old, and in children, it destroys white matter in the front of the brain. Many patients, especially those with […]

Is Roche Going to Do Some Big Rare Disease Drug Deals?

Roche CEO Severin Schwan

So is Roche going to do some rare disease deals or not? Rumors of a possible buyout of Alexion and BioMarin– alternatively dissed and touted– helped make this one of the big questions for deal watchers. Roche CEO Severin Schwan’s answer can now be summarized in one word: […]

UAB Researcher Answered Questions for Families of Children with Rare Diseases


BIRMINGHAM, Alabama – Few people outside his laboratory at the University of Alabama at Birmingham knew or understood what researcher Jerry Thompson did. Over the years, thousands of families across the country relied on Thompson to tell them what was wrong with their children. If […]