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The most relevant news about rare diseases in the international press.
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New Genetic Test Diagnoses Rare Childhood Diseases

Most rare diseases are genetic and appear early in life. While a child may show symptoms, it's often difficult to confirm a diagnosis. As VOA's Rosanne Skirble reports, a powerful new genetic...
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Tempering the Genetic Revolution - Project Syndicate

Tempering the Genetic Revolution - Project Syndicate | Rare Diseases | Scoop.it
Tempering the Genetic Revolution
Project Syndicate
Major errors in DNA composition that are responsible for about 3,000 of the 7,000 known genetic diseases can be visualized, and efforts are underway to identify the causes of the remaining 4,000.
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Gabriel PICART's curator insight, August 4, 2014 4:23 AM

Vers un séquencage ADN de routine?

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Rand Paul calls for foreign drug studies to be accepted in US for orphan diseases - The Global Dispatch

Rand Paul calls for foreign drug studies to be accepted in US for orphan diseases - The Global Dispatch | Rare Diseases | Scoop.it
Rand Paul calls for foreign drug studies to be accepted in US for orphan diseases
The Global Dispatch
Paul said, “Neurofibromatosis 2 is a rare disease. Some call it an orphan disease.
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Big Sur Marathon: Running eases pain for man with rare disorder - Santa Cruz Sentinel

Big Sur Marathon: Running eases pain for man with rare disorder - Santa Cruz Sentinel | Rare Diseases | Scoop.it
Big Sur Marathon: Running eases pain for man with rare disorder Santa Cruz Sentinel Indeed, the 26.2-mile length of Sunday's Big Sur International Marathon probably will be only minimally daunting to Shane James, a 44-year-old Australian...
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Genetic disorders of kids leave parents battered - Times of India

Genetic disorders of kids leave parents battered - Times of India | Rare Diseases | Scoop.it
Genetic disorders of kids leave parents battered
Times of India
While Ayesha, Rafat and Asmit suffer from Gaucher's disease, Mayukh is affected by morquio's disease. "Lack of chemical enzyme in the body causes this complex genetic disorder.
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Rare Diseases Obscured by Shadows of 'Popular' Ills: Op-Ed - Yahoo! News

Rare Diseases Obscured by Shadows of 'Popular' Ills: Op-Ed - Yahoo! News | Rare Diseases | Scoop.it
Rare Diseases Obscured by Shadows of 'Popular' Ills: Op-Ed
Yahoo! News
Without proper treatment, the more advanced my disease became, and the more disruptive my symptoms were.
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Awareness is key to diagnosing rare diseases - Insight News - Insight News

Awareness is key to diagnosing rare diseases - Insight News - Insight News | Rare Diseases | Scoop.it
Insight News
Awareness is key to diagnosing rare diseases - Insight News
Insight News
"Rare disease patients worldwide face many similar challenges, but because their conditions are so rare, they often feel alone and isolated," said Peter L.
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Mount Sinai links genetics, EHRs for personalized medicine - EHRIntelligence.com

Mount Sinai links genetics, EHRs for personalized medicine - EHRIntelligence.com | Rare Diseases | Scoop.it
Mount Sinai links genetics, EHRs for personalized medicine EHRIntelligence.com We might not have entered the era of designer babies or complete and infallible screening for all genetic diseases, but a patient's DNA is becoming increasingly...
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Ben's Friends – a mobile resource for those with rare diseases | mHIMSS

Ben's Friends – a mobile resource for those with rare diseases | mHIMSS | Rare Diseases | Scoop.it
Ben's Friends – a mobile resource for those with rare diseases | mHIMSS http://www.mhimss.org/news/bens-friends-%E2%80%93-mobile-resource-those-rare-diseases (RT @jccolyer: Ben's Friends – a mobile resource for those with rare diseases | mHIMSS...
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RareConnect: Online global patient network for ...

RareConnect: Online global patient network for ... | Rare Diseases | Scoop.it
RareConnect.org, the successful, growing online network for rare disease communities, brings together thousands of patients, families, and groups who might otherwise be isolated.
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David Cameron remembers son Ivan as he opens centre for research into rare diseases - Telegraph

David Cameron remembers son Ivan as he opens centre for research into rare diseases - Telegraph | Rare Diseases | Scoop.it
Prime Minster David Cameron has spoken about how he felt when he discovered his son had a rare form of epilepsy, as he opened a specialist research centre that aims to revolutionise research into rare conditions.
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Development and preliminary testing of the psychosocial adjustment ...

Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale - up-to-the-minute news and headlines. 7thSpace is a online portal covering topics such as Family, Business, Entertainment, ...
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Top 5 Rare and Horrific Diseases

There are many unheard of diseases that exist around the world. This video lists some of the rare and horrific diseases. Please subscribe and share to suppor...
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Rare disease research – new developments and initiatives | BHD ...

The aim of this year's Rare Disease Day, Rare Disorders Without Borders, was to promote the message that international collaboration between patients, clinicians and researchers is imperative to find cures for rare diseases.
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Viewpoint: Clear referral pathways needed for people with rare conditions - GP online

Viewpoint: Clear referral pathways needed for people with rare conditions - GP online | Rare Diseases | Scoop.it
Viewpoint: Clear referral pathways needed for people with rare conditions
GP online
For many patients and families with rare conditions requiring specialist support from a multi-disciplinary team of professionals, the outlook remains uncertain.
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Jewish Heritage » South Florida Jews help unearth clues to genetic ...

Jewish Heritage » South Florida Jews help unearth clues to genetic ... | Rare Diseases | Scoop.it
South Florida Jews help unearth clues to genetic diseases. « Exodus 31: Bezalel's Appointment — Artistic Genius and the "Spirit of God" (English only) – Video Home Jews ease back into Tunisia for famed pilgrimage » ...
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Tempering the genetic revolution - Gulf Times - Gulf Times

Tempering the genetic revolution - Gulf Times - Gulf Times | Rare Diseases | Scoop.it
Gulf Times Tempering the genetic revolution - Gulf Times Gulf Times Major errors in DNA composition that are responsible for about 3,000 of the 7,000 known genetic diseases can be visualized, and efforts are underway to identify the causes of the...
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New drug gives growth to girl who had no bones - Mansfield News Journal

New drug gives growth to girl who had no bones - Mansfield News Journal | Rare Diseases | Scoop.it
New drug gives growth to girl who had no bones
Mansfield News Journal
Vanderbilt diagnosed the severe form of hypophosphatasia — a rare disorder that occurs in only one of every 100,000 infants.
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Targeted therapy prevents rare neurodevelopmental disorder seizures - News-Medical.net

Targeted therapy prevents rare neurodevelopmental disorder seizures News-Medical.net "As a strategy to initiate therapeutic discovery for the rare disorder PMSE, we used these preclinical signaling and functional assay data as a translational...
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Revised European data protection will make data about rare ...

Revised European data protection will make data about rare ... | Rare Diseases | Scoop.it
A blog by the Centre for Research Ethics & Bioethics (CRB) at Uppsala University, Sweden.
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An Evolving App for Genetic Tests « NIH Director's Blog

An Evolving App for Genetic Tests « NIH Director's Blog | Rare Diseases | Scoop.it
RT @Fogarty_NIH: The #NIH Genetic Testing Registry has info on 3000 tests for 2100 diseases. Read @NIHDirector blogpost http://t.co/k7hbWd1aii #genetics
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The World's Most Expensive Drugs - Forbes.com

The World's Most Expensive Drugs - Forbes.com | Rare Diseases | Scoop.it
Drug prices are soaring into the stratosphere. Nine medicines now cost more than $200,000 per year.
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Sen. Paul Advocates for Acceptance of Foreign Drug Studies Rand Paul | United States Senator

Sen. Paul Advocates for Acceptance of Foreign Drug Studies Rand Paul | United States Senator | Rare Diseases | Scoop.it
Sen. Rand Paul took to the Senate floor today to put a face on two orphan diseases: Neurofibromatosis Type 2 and Pulmonary Fibrosis. Orphan diseases are rare and likewise, their resources, treatments and cures are rare.
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Fabry film spotlights a rare disease - Medical Marketing and Media

Fabry film spotlights a rare disease - Medical Marketing and Media | Rare Diseases | Scoop.it
Medical Marketing and Media Fabry film spotlights a rare disease Medical Marketing and Media Genzyme is taking rare disease awareness to another level with a documentary film, dubbed “Facing Fabry Together,” that follows four families grappling...
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