Total Orphan Drug Presents: New Rare Syndromes


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


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


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


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...]