Eliminating Rare Diseases

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A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale. Rare diseases– while individually uncommon– affect one person […]

Fighting Ataxia Telangiectasia – Meet Connor

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Connor is a typical 5 year old boy, except he has a life threatening condition. He loves to play with cars, hang out with his friends, and pretend to be Spiderman. But sometimes the fun times take a back seat when he is home sick […]

Rare Disease Research at the Center for Applied Genomics at CHOP

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Discovering the genetic variants that cause rare disease are essential to delivering better diagnoses, improved treatments, and preventive medicine. The most accurate and cost-effective method of achieving this goal is to sequence the genomes of affected patients, as well as their first-degree relatives. At the […]

ABC News Reports – DNA Sequencing and it's Impact on Rare Disease Family

ABC News reports on The Beery family and their fight to help their children, and to better understand the specifics related to their children’s disease. http://abcnews.go.com/GMA/video/miracle-cure-sick-twins-mothers-quest-for-answers-childrens-medical-problems-health-13873896?tab=9482930&section=1206852&playlist=13874261

Global Volunteer Day at Life Technologies – Rare Disease Supported!

Global Genes Project one of the beneficiaries of Life Technologies Global Volunteer Day 2011! All around the globe Life Technologies volunteers donate their day to help organizations and people in need.  Donned in their navy blue ‘Giving Back at Life’ shirts volunteers participated in a […]

Existence Genetics Ramps up for Widespread Test Service Launch, Eyes Whole-Genome Sequencing

NEW YORK (GenomeWeb News) – Even before whole-genome sequencing becomes a reality in the clinical setting, one Los Angeles-based firm is betting its future on the promise of the technology. To hear Existence Genetics Founder and CEO Brandon Colby tell it, whole-genome sequencing is only […]