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rare diseases

Link: Eleven hospital trusts named in DNA sequencing project

The NHS has named the first 11 hospital trusts that will map DNA on a scale never before attempted by sequencing the genomes of tens of thousands of patients, in a project that promises to transform the understanding of cancer and rare diseases.

 

The full Guardian article can be found at http://www.theguardian.com/science/2014/dec/22/hospitals-patient-dna-sequencing-project.

 

Copyright © The Guardian December 2014 | by Matthew Weaver

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: New clinic software to advance rare disease treatment

Marshfield Clinic has made researching and finding treatments for rare diseases a little easier.

A software program developed at the Marshfield Clinic Research Foundation will be available at no cost to health care institutions and patient advocacy groups to develop rare disease registries to be included in the Global Rare Diseases Patient Registry Data Repository, or GRDR.

The full text of this article can be found at http://www.marshfieldnewsherald.com/. The article refers to a clinic in Marshfield, WI USA.

 

Copyright © News-Herald Media December 6, 2014 | by Marisa Cuellar

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.

Link: Too Rare for Research? People with rare diseases often experience significant delays in diagnosis and access to few, if any, treatment options.

When Jon Soeby snipped his newborn son’s umbilical cord, baby CJ grunted. Astonished, the doctor joked that CJ was already trying to talk. But CJ’s parents felt something was wrong.

The article talks about CJ, a child born with a rare disease called hypothalamic hamartoma. Orphan diseases (affecting less than 200,000 Americans) can and often do experience long delays in diagnosis and treatement of their conditions. Treatment options are often few and far between, if there are any at all. A diagnosis may be years coming, if one comes at all. This is a terrifying reality for thousands of individuals around the world.

The full text can be found at Neurology Now in the April/May 2012 edition.

 

Copyright ©2012 American Academy of Neurology

This website is not a substitute for independent professional advice. Nothing contained in this site is intended to be used as medical advice. No articles, personal accounts, or other content are intended to be used to diagnose, treat, cure or prevent any disease, nor should it be used for therapeutic purposes or as a substitute for your own health professionals advice.