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  • A little boy from Cheam has been diagnosed with a condition so rare that, since its discovery in 1965, fewer than 25 cases have been recorded worldwide. Alfie Mumford, four, suffers from the complex Gillespie syndrome, characterised by partial aniridia, meaning that part of his iris is missing and his...
  • Margaret Flynn is still waiting for a lung transplant. Now, the Ladysmith resident has been on the current waiting list longer than anyone else. “It’s a rare match,” said Flynn, who has O negative blood as well as certain anti bodies in the blood, making her difficult to match to...
  • Christine Falleti has spent much of her life combating the crippling effects of cystic fibrosis (CF). Now 34, she is painfully aware that she’s approaching the age when most people with CF die. Two friends with the disease already have. But last year she took part in a test of...

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To save the 352,400 patients diagnosed each year in the USA with rare or orphan cancers we must save small biotech firms who provide these drugs. The SEC needs to GET SHORTY! @RareDiseases #mmsm @CheckOrphan @rarediseasefdn @SEC_Enforcement @SteveFDA

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ICYMI: During XLH Week we talked about the Transitions Toolkit, a collaboration between Quinnipiac University, Ultragenyx and The XLH Network, Inc.. The toolkit is available for download at our website: https://xlhnetwork.org/xlh-resources

We’re honored to receive the @Rarediseases 2020 Industry Innovation Award at this year’s #RareImpact Awards. Our commitment to reimagining medicine has led to innovative treatments for children like Malachi, who has #SpinalMuscularAtrophy (SMA) Type 1.

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