Total Orphan Drug Presents: New Rare Syndromes

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Novel form of congenital lipodystrophy and fatty liver disease due to biallellic loss-of-function mutations in PCYT1A in two unrelated patients The authors identified two unrelated patients with defects in the Kennedy pathway due to biallellic loss-of-function mutations in PCYT1A. The phenotypic consequences include severe fatty liver and low HDL cholesterol levels. Both patients also had … [more here...]

Little Miss Hannah Foundation Seeks Donations for Care Bags

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The Little Miss Hannah Foundation is going to be launching their new program in honor of what would have been Little Miss Hannah's 6th birthday (July … [more here...]

Ireland’s First Rare Disease Plan Published

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Rare diseases, by their very nature, are one of the most challenging issues for any health service to deal with. A rare disease is defined in the EU … [more here...]

Drug Derived From Milk of Genetically Modified Rabbits to Treat Rare Swelling Disorder

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The FDA has approved new drug, Ruconest, to treat people with Hereditary Angioedema. The new drug, developed in partnership by Salix Pharmaceutical … [more here...]

Global Genes Webinar Happening Today!

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Using Successful Online Fundraising Strategies Date:  July 30, 2014 Time:  10:00 am PT / 1:00 pm ET Register here! Online fundraising has made it … [more here...]

UK Girl Dies After Doctors Fail to Diagnose Addison’s Disease

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A "VIVACIOUS and lively girl" died after her rare medical disorder went undiagnosed by doctors. Clare Cooper died aged 24 in February 2013 from … [more here...]

City Councilor Diagnosed with Essential Thrombocythemia

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Claremore man David McComb is no stranger to fighting. During his time in the service, and even as a current member of the Claremore City Council, … [more here...]