9-Year-Old with Brain Iron Accumulation Requests Birthday Cards

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Meet Ali Najera. Ali is a 9-year-old girl who loves Disney princesses, seashells, and making new friends. But Ali is also suffering from a condition known as Neurodegeneration with Brain Iron Accumulation (NBIA). This rare, debilitating condition reduces much of her physical capabilities, and Ali will require assistance for basic functions as her body worsens. One of the things that keeps Ali … [more here...]

CureDuchenne Announces $7M Collaboration With Prosensa To Quicken Access to Duchenne Treatments

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CureDuchenne announced today a new $7 million(€5M) collaboration with the biotechnology company Prosensa to help get experimental medicines to … [more here...]

Scanning Family Photos Can Reveal Rare Genetic Disorders

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Family photo albums are dusty time capsules from another era. But in the near future, they might also be crucial documents predicting future genetic … [more here...]

Navigating the Landscape of Compassionate Use: Siren Interactive Releases New White Paper

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A new white paper was released by Siren Interactive on how to help those who may be considering compassionate use. Requests for … [more here...]

The Guardian: Rare Genetic Disorders and Five Positive Steps for Parents

Caring for a child with a genetic disorder is tough but can be rewarding. Picture posed by models.

Charity Genetic Disorders UK outlines five of the most important measures to take when your child has been recently diagnosed: It Is Not Your … [more here...]

Proteus Syndrome No Match for Savannahian Patient

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Seriously, sometimes he says his face hurts from smiling so much. According to Savannahian Daniel DeLoach, 27, “there are always people out there … [more here...]

Funds Flood Campaign to Bring Rare Disease Centre to Birmingham

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Birmingham's Rare Disease Centre Appeal is racing toward its target of £1 million – thanks to YOU. Since the Birmingham Mail and sister newspaper … [more here...]