Rare Disease

STAT3 Mutations ID'd in Rare Lymphoproliferative Disorder
Doctors Lounge
"In conclusion, STAT3 is frequently mutated in large granular lymphocytic leukemia, highlighting key steps in the molecular pathogenesis of this rare disease," the authors write. "Structural and functional data suggest that the observed mutations ...

Daily Mail
Flesh-eating bacteria hospitalizes another victim: New SC mom
Los Angeles Times
By Rene Lynch The rare disease commonly known as flesh-eating bacteria has claimed another victim: a South Carolina woman who had just given birth to a healthy set of twins and who noticed an unusual spot on the back of her leg.
New mom in South Carolina fighting flesh-eating bacteriaYahoo! News Blogs (blog)
New South Carolina mom is latest victim of flesh-eating bacteriaDetroit Free Press
Cause and Prevention of Newly Publicized Flesh-Eating Infection - Necrotizing ...PR Web (press release)
msnbc.com (blog) -WRAL.com
all 400 news articles »

Scientist
Children With Rare, Incurable Brain Disease Improve After Gene Therapy
Science Daily (press release)
ScienceDaily (May 16, 2012) — Using gene transfer techniques pioneered by University of Florida faculty, Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease.
Gene Therapy for Brain DiseaseScientist
Clinical Data Published for a Phase I AADC-deficiency Trial Using a Gene ...MarketWatch (press release)

all 15 news articles »

WATCH: Boy With Rare Disease Meets Winter the Dolphin
One Green Planet (blog)
Damian, an eight-year-old boy has a rare condition called Proximal Femoral Focal Discrepancy, which caused his left leg to be shorter than his right. As a result, he has had to wear a prosthetic device on his left leg for most of his life.

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Grace City family challenged by sons' rare disease
Jamestown Sun
Specialists at The University of Minnesota diagnosed him with pantothenate kinase-associated neurodegeneration (PKAN), a rare genetic disease for which there is currently no known cure. According to Oregon Health & Science University in Portland, Ore., ...

The coach's son: Extremely rare disease challenges family
Signal
He wondered if Blake would be able to fight a disease so rare, it even left doctors perplexed. “We think it's a miracle to take him through this,” Garrick says, “and he opened his eyes, and it was just amazing.” Blake, who turned 2 last November, ...

CBS Local
Colorado Adds 'Bubble Boy Disease' To List Of Newborn Tests
CBS Local
This year the state added what's often called “Bubble Boy Disease” to its list of newborn tests. The new screening just started on Feb. 1 and one baby has already been diagnosed with the rare disease. While having a child with the immune deficiency ...

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KDLT News
SF Woman Uses MPS Disorder To Inspire Others
KDLT News
Kendra Gottsleben is battling a rare disease, but she's not letting that stop her. Instead, she's using her unique situation to help others and that's what makes Kendra Someone You Should Know. “You've got to have some pizzazz, just a little sparkle,” ...

Sci-Tech Today
Woman with flesh-eating disease asks for a book
Catholic Online
On May 4, she was diagnosed with the rare disease and flown to Augusta for special treatment. Copeland is facing a long recovery from her amputation, failure of the kidney, and organ damage which was caused by the infection. "She's going to be here for ...
Flesh-Eating Bacteria Risk Rare Despite New CaseSci-Tech Today
How common is flesh-eating bacteria?New York Daily News
With video: Flesh-eating bacteria risk rare despite Georgia student's caseDetroit Free Press
Daily Beast -WLS
all 297 news articles »

Scientist
Children with rare, incurable brain disease improve after gene therapy
University of Florida
Using gene transfer techniques pioneered by University of Florida faculty, Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease. The first-in-humans achievement may also be helpful ...
Gene Therapy for Brain DiseaseScientist
Clinical Data Published for a Phase I AADC-deficiency Trial Using a Gene ...MarketWatch (press release)

all 12 news articles »

Love for Lucas raises $30000 to battle rare disease
Chronicle-Telegram
AVON LAKE — When they made plans for the inaugural Love for Lucas event, Nicole and Brian Hardman considered $5000 a more-than-adequate sum to raise for research of the rare disease that took the life of their baby boy last year at only 5 weeks old.

NORD Forum Speaker: Bills Hold Major Promise for Rare Disease Patients
Sacramento Bee
By National Organization for Rare Disorders (NORD) WASHINGTON, May 15, 2012 -- /PRNewswire-USNewswire/ -- The House and Senate versions of "PDUFA V" are on track for timely congressional approval and represent the most significant legislative advances ...

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Two Chicago Bear Greats to Help Tackle Rare Disease
Patch.com
Brian Urlacher and Lance Briggs will be signing autographs at Lake Barrington Field House to support the fight against Batten Disease. By Tim Priester Despite being afflicted with a rare and debilitating neurodegenerative disorder known as late ...

Decision to end genetic council funding criticised
ABC Online
The department is instead advertising for a group that focuses on all rare diseases, not just those with a genetic origin, to take over. The council's chairman Mitch Messer says its service should have been continued. "Our real concern is to see that ...

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Blood drive for woman with rare disease
Brisbane Times
Websites in the Fairfax Digital Network offer streaming video and audio in the Flash format. Streaming media allows you to watch video on a website as a continuous feed, as opposed to waiting for an entire audio or video file to download to your ...

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'Diamond' racers run for rare diseases
Vancouver Courier
During one such moment, the Lux Jewels owner received a call from the Rare Disease Foundation she couldn't forget. "There's one in [12] people in Canada with a rare disease, so it's not that rare when you think about one in [12]- Fifty per cent of whom ...

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ABC News
Flesh-eating germ rare, especially for the healthy
Philadelphia Inquirer
Georgia grad student Aimee Copeland is fighting a life-threatening flesh-eating disease, and doctors are calling her case very rare. The infection occurred after she gashed her leg in a Georgia river May 1, 2012, after a zip line accident.
Necrotizing fasciitis: What is the flesh-eating disease?Fox News
Girl With Flesh-Eating Disease Faces 'Horror,' 'Depression'ABC News
Georgia grad student battling rare flesh-eating diseaseNECN
WHNS Greenville -Chicago Sun-Times
all 2,557 news articles »

'Even docs misdiagnose rare disease MPS'
Deccan Herald
A workshop was conducted in Maulana Azad Medical College (MAMC) on Tuesday to spread awareness about life-threatening rare genetic disorder, MPS. Doctors, researchers, parents and children gathered to observe the international MPS Awareness Day.

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'Diamond' racers run for rare diseases
Vancouver Courier
During one such moment, the Lux Jewels owner received a call from the Rare Disease Foundation she couldn't forget. “There's one in [12] people in Canada with a rare disease, so it's not that rare when you think about one in [12]…

Daily Mail
Tortured by sound: Student has rare condition that makes the simplest noises ...
Daily Mail
She suffers from a rare disease known as misophonia, in which she simply cannot tolerate noises like chewing, swallowing, and breathing. The neurological condition, which literally means 'the hatred of sound,' means that many of its sufferers are ...

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