New Study on CAID Syndrome Links Heart and Gut


Physicians and researchers at CHU Sainte-Justine, Université de Montréal, CHU de Québec, Université Laval, and Hubrecht Institute have discovered a rare disease affecting both heart rate and intestinal movements. The disease, which has been named “Chronic Atrial Intestinal Dysrhythmia syndrome” (CAID), is a serious condition caused […]

Experts Ask India to Lead R&D in Rare Disease Drugs


Drug industry experts have called upon the Indian government to frame a policy on rare diseases to provide cure for 10 crore people suffering from them. Mr Ramaiah  Muthyala, associate professor at University of Minnesota said, “The economic burden for curing rare disease is unbearable and […]

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 […]