An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalitiesThe work, co-led by geneticists at the University of Leeds, together with colleagues from institutes and universities in Paris, Rome and San Diego, should allow c

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Kat DeLong pounds away, determined to build a better future for her kids, with a Habitat for Humanity home“I'm a single mom, I have two special needs kids, I wanted to find something that was handicap accessible for my youngest son who is really medically fragile,” says DeLongKat says

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Researchers at the University College Dublin (UCD) Conway Institute of Biomolecular and Biomedical Research in Ireland have discovered new information on a gene that is involved in the development of Joubert syndrome, a genetic disorder that affects the brain stemThe team hopes that the results, w

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Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, and low muscle tone, among other symptoms. The findings will be published online March 15 in the

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DANA POINT, Calif. -- The Global Genes Project (www.globalgenesproject.org), a worldwide rare disease awareness initiative, today announced the success from its World Rare Disease Day 2010 efforts and laid out plans for future rare disease awareness campaigns"Thanks to the participation of thousan

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WALTHAM -- Amber Bobnar said her 4-year-old son Ivan is a different boy when he's swimming in the heated waters of the therapeutic pool at the Walter E. Fernald Developmental Center"For some reason, he just seems to come alive," she saidIvan has a rare genetic disorder known as Joubert Syndrome,

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An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1Their findings, which may lead

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Cold Spring Harbor, N.Y. -- Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert SyndromeJBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general

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Landon Collins, 13, slowly typed the letters into a small computer called a DynaVox.The communication device read the word aloud, "Funny."That's how he describes his favorite teacher, Jamie Harris, a sixth-grade Bailey Middle School reading teacher.But if you ask Landon's parents, they call h

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The first thing doctors notice is the newborns struggle to breathe. Then the infants show signs of kidney disease and don’t walk and talk when they should.Researchers have now identified a gene defect linked to Joubert syndrome, a rare cluster of defects in which part of the brain doesn’t develop fully. This leaves children with mental retardation, disrupts their ability to move…

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