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Thursday, December 18, 2014

Baby's Rare Disease Makes Hugging Too Dangerous
NBCNews.com
A California couple is meeting with medical experts this week to find out if there is any hope for their 2-month-old daughter, who has a rare disease that makes a simple hug dangerous. Kiira Kinkle was born with recessive dystrophic epidemolysis ...

Thursday, December 18, 2014

Rare disease makes Lincoln baby almost untouchable
KCRA Sacramento
The Kinkles are sharing their story in hopes of raising awareness about the disease with the hope that it will lead to greater funding for research of a cure. "It's so rare there's not a whole lot of awareness and therefore not a whole lot of money ...

Thursday, December 18, 2014

ABC News (blog)

8-Year-Old Raises More Than $1 Million to Help Cure His Friend's Rare Disease
TIME
Some best friends will do anything for each other – even if it means raising more than $1 million. In 2012, when Dylan Siegel, then 6, found out his best pal, Jonah Pournazarian, had a rare liver disorder called glycogen storage disease type 1B, he ...
Eight-year-old boy's "Chocolate Bar" books raises $1 million to help research ...abc7news.com
Boy's 'Chocolate Bar' Book Nets $1M for Rare Liver Disorder ResearchABC News (blog)
8-Year-Old Boy Raises $1 Million For Research For Best Friend's Rare DiseaseWRIC
Islamabad Globe
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Wednesday, December 17, 2014

Man suffers rare disease
WJXT Jacksonville
Man suffers rare disease. Published On: Dec 17 2014 10:37:48 PM EST Updated On: Dec 17 2014 10:55:34 PM EST. Small Text; Medium Text; Large Text. Print; Email. Tweet. Steve Austin was diagnosed with a rare blood mutation called "Jak-2" and it ...

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Wednesday, December 17, 2014

New hope for rare disease drug development
Medical Xpress
Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease, according to the results of a clinical trial published in the open access Orphanet Journal of Rare Diseases. The study ...

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Wednesday, December 17, 2014

More than $100G donated to nonprofit founded for Marisa Carney, Bayport girl ...
Newsday
The nonprofit organization founded for a Bayport girl with a rare obesity disorder will receive its largest single donation Wednesday -- more than $100,000 -- from Atlantic Auto Group. ROHHAD Fight Inc., started by the family and friends of Marisa ...

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Wednesday, December 17, 2014

More than $100G donated to nonprofit founded for Marisa Carney, Bayport girl ...
Newsday
Marisa Carney, 8, has been living on a portable ventilator since 2011. She is the only person on Long Island to be diagnosed with ROHHAD, an acronym for Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation.

Wednesday, December 17, 2014

Medical Xpress

A computer platform can pinpoint the genes behind rare diseases that have ...
Medical Xpress
A computer program that cross-references disease symptoms with DNA sequencing data can detect the faulty genes responsible for rare disorders with greater accuracy than other methods. Developed by scientists at A*STAR, the software could provide a ...

Tuesday, December 16, 2014

Medical Marketing and Media

Latest orphan-drug approval marks 15th this year
Medical Marketing and Media
Today's approval adds to a growing body of evidence that rare diseases are becoming the fastest-growing segments in the industry. A record-setting 260 orphan drug designations were granted in the US for 2013, according to EvaluatePharma's recent ...
FDA approves Novartis' Signifor drug for rare hormonal disorderEconomic Times
Fresh off Afinitor failure, Novartis turns tide with Signifor LAR approvalFiercePharma
Novartis gains FDA approval for Signifor® LAR to treat patients with ...PR Newswire (press release)

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Tuesday, December 16, 2014

Lance to chair Congressional Rare Disease Caucus again
The Ripon Advance
Rep. Leonard Lance (R-N.J.) will continue to serve as the Republican Chair of the Congressional Rare Disease Caucus during the 114th Congress, which begins in January. The caucus builds support for legislation that helps constituents with rare diseases.