Rare Disease in the News

Medical Xpress

Gene Sequencing May Reveal Risks for Rare Diseases
Philly.com
MONDAY, June 26, 2017 (HealthDay News) -- "Genome sequencing" of healthy people reveals that some are at risk for rare genetic diseases, a new study shows. And doctors need to be sensitive when revealing that information, the researchers said.
Sequencing healthy patients reveals that many carry rare genetic disease risksMedical Xpress
One in five 'healthy' adults may carry disease-related genetic mutationsScience Magazine
Whole genome sequencing not ready for routine use: studyReuters
STAT -MIT Technology Review -EurekAlert (press release)
all 13 news articles »

My View: Tot is fighting back from rare disease
The Star
Some childhood illnesses can be difficult to diagnose as many doctors have never seen some of the rarer ones. Parents instinctively worry about meningitis but most will probably have never heard of Kawasaki disease and very few doctors will have seen a ...


Rare Disease Report

New Data Show Survival Improvement with Adcetris in Hodgkin Lymphoma Patients
Rare Disease Report
Earlier today, Takeda and Seattle Genetics announced promising results from its Phase 3 ECHELON-1 Clinical Trial that evaluated Adcetris (brentuximab vedotin) in Frontline Advanced Hodgkin Lymphoma. The randomized trial met its primary endpoint, ...

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WGN-TV

Young woman with rare disease runs non-profit that sends cards to hospitalized kids
WGN-TV
CHICAGO — Jen Rubino knows how it feels to be sick and in the hospital at a young age. The 22-year-old was diagnosed with a rare childhood bone disease at 10 years old. She has spent years in and out of hospitals and has had more than 20 surgeries.


NPR

'Scientist-Patient' And Her Husband Race To Find A Cure For Her ...
NPR
In 2010, Sonia Vallabh watched her mom, Kamni Vallabh, die in a really horrible way. First, her mom's memory started to go, then she lost the ability to reason.

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WNDU-TV

ND football players help support rare disease community at bowling ...
WNDU-TV
Irish football players hit the bowling alley Sunday for Notre Dame's Chapter of Uplifting Athletes to help support the rare disease community.
Notre Dame WR Javon McKinley back on a roll in charity bowling ...Notre Dame Insider

all 3 news articles »

MyCentralJersey.com

CARES Foundation looks to serve those with rare disease
MyCentralJersey.com
While the CARES Foundation is completely unknown to many people, there is a small but significant group of the population that heavily relies on the organization. That group is those affected by CAH — Congenital Adrenal Hyperplasia — a family of rare ...


KSL.com

Utah startup on the fast track to finding drug therapies for rare diseases
KSL.com
At Recursion Pharmaceuticals, it is all about speed. Here, automation is accelerating the search for rare disease treatments. Back in 2013 as a research scientist screening existing drugs that might be effective in treating a rare brain disorder ...

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Medical Xpress

Characterizing the mouse genome reveals new gene functions and their role in human disease
Science Daily
Development of therapies for rare disease lags far behind, with over half of diagnosed rare diseases still having no known causative gene. This is why the IMPC is aiming to build a complete database that systematically details the functions of all ...
Consortium Reports on First Efforts To Catalog Mammalian Gene FunctionGenomeWeb
Mouse Genome Studies Show Disease Models and Sex Differences ...UC Davis

all 4 news articles »

KXII-TV

Garage sale to benefit 4-year-old with rare autoimmune disease
KXII-TV
SADLER, Texas (KXII) -- A garage sale to benefit a 4-year-old Grayson County girl with a rare auto-immune disease has raised thousands for the family's medical costs. Mackenzie was diagnosed in April with juvenile dermatomyositis, which means it makes ...