Latest News

Thursday, December 08, 2016

Science Magazine

Saudi gene hunters comb countrys DNA to prevent rare diseases
Science Magazine
In a hospital conference room here in Saudi Arabia's capital, a lieutenant colonel in the Saudi army, dressed in fatigues and a black beret, stoically tells a story of genetic casualties. His and his wife's first child, born in 2004, seemed healthy at ...

Wednesday, December 07, 2016

Petition on access to medicines for rare diseases
Scoop.co.nz (press release)
LDNZ welcomes attendance by supporters from any rare disease group at the presentation. We have made it clear in our petition and in all related publicity that this is not just about one treatment for one disease, but is about fair access to medicines ...

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Wednesday, December 07, 2016

Rare Disease Report

Senate Votes 94 – 4 in Favor of 21st Century Cures Act #curesnow
Rare Disease Report
We at Rare Disease Report are thrilled that the 21st Century Cures Act is almost a reality. And to all of you worried about the OPEN ACT being dropped—do not despair—the rare disease community is a tenacious group. The will find a way to get those ...
Senate Passes Landmark 21st Century Cures ActMarketwired (press release)
The U.S. Senate approved the 21st Century Cures ActSky Hi Daily News
Everything You Need to Know About the Massive Health Reform Law That Just Passed CongressFortune
Daily Record -Montgomery Advertiser -The Mighty
all 233 news articles »
Tuesday, December 06, 2016

Drug Discovery & Development

Rare Childhood Disease Linked to Major Cancer Gene
Drug Discovery & Development
A team of researchers led by a University of Rhode Island scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN. The discovery improves the understanding of ...

Tuesday, December 06, 2016

Health Data Management

How data warehouses can speed identification of rare diseases
Health Data Management
There are more than 7,000 rare diseases for physicians to consider when diagnosing a patient. For even the most experienced physician, this is a daunting task. This is further compounded by the fact that one in ten people have one of these diseases.

Tuesday, December 06, 2016

NHS England is 'failing rare disease patients,' charity says
The Pharma Letter (registration)
Changes in the way that NHS England commissions specialized treatments have been called for by a charity working to improve the lives of patients and families affected by genetic conditions. On Sunday NHS England announced its decision to routinely ...

Tuesday, December 06, 2016

Rare Disease Report

Man Conquers Rare Disease and Mountain to Propose Marriage
Rare Disease Report
Previously, Eugene was a marathon runner, until his rare disease ended his running career. But even then, he wasn't ready to call it quits. He set a goal to climb Mount Rinjani before he became completely immobile. But that wasn't enough, he wanted to ...

Tuesday, December 06, 2016

AsiaOne

Singaporean beats rare disease to propose to girlfriend on top of Mount Rinjani
AsiaOne
In October, AsiaOne spoke to brothers Kenneth and Eugene Tan about living with Hereditary Spastic Paraplegia, a rare genetic neurological condition. About three in 100,000 people in the US suffer from this disease. There are no current statistics for ...

Monday, December 05, 2016

Pinpointing Rare Diseases with Facial Analysis and Phenotyping Technology
Medical Device and Diagnostics Industry (blog)
Diagnosing rare and ultra-rare genetic diseases can be extremely difficult for geneticists. The diagnostic odyssey, from the primary point of care, through the specialty clinics and to the molecular testing labs, can take up to 7.6 years to come to an ...

Monday, December 05, 2016

Seeking Alpha

aTyr Pharma: Breakout Biotech Company Covering Rare Disease Treatment Options
Seeking Alpha
aTyr Pharma (NASDAQ:LIFE) is small-cap biotech with a $75 million market cap and is involved in rare disease arena with Physiocrine biology as its lead-in study and recent technological inroads into physiological modulators. I am presenting a short ...

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