Latest News

Sunday, April 26, 2015

The Ulster Herald

Family speak of schoolboy's rare disease diagnosis
The Ulster Herald
AGED just 11, Aghyaran schoolboy Damian McHugh is coping with a lot more than most children his age. Last year the local schoolboy was diagnosed with the extremely rare Ollier's disease. Affecting just one in 100,000 people, the non-hereditary disorder ...

Sunday, April 26, 2015

16-month-old St. Cloud boy battling two rare diseases
News 13 Orlando
Dylan Austin is just 16 months old, but he's already fighting two diseases — including a rare bacterial infection in both his blood and bones. His parents, who live in St. Cloud, said they have received prayers from all over the word in support of ...

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Saturday, April 25, 2015

District 58 schools raise money to fight rare diseases
Suburban Life Publications
The Kingsley Student Council hosted a "Dance Off Disease Day," raising more than $700 for the Global Genes Fund. The Lester School Student Council sponsored a penny harvest to collect money for the Global Genes Project and teachers could pay a dollar ...

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Friday, April 24, 2015

FOX31 Denver

Colorado boy with rare disease inspires others around the world to be ...
FOX31 Denver
DENVER — For years they fought their fight alone. That was until an 11-year-old from Denver decided to look outside his pain for others who are battling the same disease. Patrick Boland found companions in Colorado. Their bond is helping to fight a ...

Friday, April 24, 2015

Peoria Journal Star

In the Spotlight: When rare disease strikes, it doesn't seem rare
Peoria Journal Star
The March 26 Journal Star included an article entitled “Science, patients driving rare disease drug research surge.” As the husband and caregiver of a woman with the rare and terminal disease Multiple System Atrophy (MSA), the article hit home. The ...

Friday, April 24, 2015

HCPLive

Gene Mutation Associated with Rare Disease Key to Pain Processing
HCPLive
Mutations in the gene Lmx1b result in Nail-patella syndrome (NPS), a rare human disease that causes limb and kidney malformations. In addition to the condition, the gene can affect the way the body processes pain. NPS patients are less sensitive to ...

Friday, April 24, 2015

Bloomington Pantagraph

Woman battles rare, aggressive disease with information, attitude
Bloomington Pantagraph
STANFORD — Kristy Hayes once helped prove to a doctor and nurse that she had an aggressive form of a rare disease by throwing up on them. Hayes was at Mayo Clinic in 2012. She was throwing up food, losing weight and getting weak, she thought, ...

Friday, April 24, 2015

Medical Xpress

Scientists discover genetic cause of deadly rare disease 'dyskeratosis congenita'
Medical Xpress
Published in the Journal of Clinical Investigation, the researchers used the latest genetic sequencing methods to study 31 children with the disease and discovered a defect in the biological process known as deadenylation. This is the routine breakdown ...

Friday, April 24, 2015

BreakingNews.ie

Irish baby of couple carrying rare disease born healthy after revolutionary ...
BreakingNews.ie
An Irish baby, whose parents are the carriers of an extremely rare disease, is the first to be born healthy as a result of a revolutionary treatment. Emma and John O'Connor, who live in east Cork, are both carriers of mucolipidosis. Their first child ...
Irish baby is first to be born without rare disease her parents carryNewstalk 106-108 fm

all 4 news articles »
Friday, April 24, 2015

FindZebra: a specialised search engine for rare diseases
ScienceBlog.com (blog)
Every doctor is taught to think of the common causes of a problem before contemplating the rare ones. This works for the majority of patients but occasionally the cause is something unusual – a “zebra” – and isn't so easy to find. For rare disease ...