Rare Disease News

Images from the Portraits of Courage Celebration

Published May 30, 2014 by NORD

Categorized in -

NORD’s Portraits of Courage Celebration on May 8, 2014, highlighted the many ways in which patients and caregivers display great dignity and grace in living with challenging rare diseases. Patients …

Continue reading “Images from the Portraits of Courage Celebration”

Engineering Treatments for Rare Disorders

Published April 21, 2014 by NORD

Categorized in -

Medical

3-D printing is an exciting technology that has shown great promise in the treatment of several rare disorders. Bioprinting is a form of 3-D printing in which cells are printed …

Continue reading “Engineering Treatments for Rare Disorders”

Genzyme and NORD Establish Program to Help Undiagnosed Patients with Rare Diseases

Published December 16, 2013 by NORD

Categorized in -

CAMBRIDGE, MA and DANBURY, CT—-Genzyme, a Sanofi company, and the National Organization for Rare Disorders (NORD) today announced the creation of a fund to pay for standard diagnostic testing for …

Continue reading “Genzyme and NORD Establish Program to Help Undiagnosed Patients with Rare Diseases”

A CRISPR Approach to Genome Editing

Published December 4, 2013 by NORD

Categorized in -

Genome editing is a process that involves cutting out mutations in DNA and replacing them with new genetic material. This is an exciting idea because if it can be refined …

Continue reading “A CRISPR Approach to Genome Editing”

30 Years After the Orphan Drug Act: It Still Takes Too Long for People with Rare Diseases to Get an Accurate Diagnosis

Published October 23, 2013 by NORD

Categorized in -

NORD recently posted the following question on its Facebook page: How long did it take you or a loved one to get an accurate diagnosis? We were stunned at …

Continue reading “30 Years After the Orphan Drug Act: It Still Takes Too Long for People with Rare Diseases to Get an Accurate Diagnosis”

Even “Well Known” Rare Diseases Pose Diagnosis Problems

Published September 4, 2013 by NORD

Categorized in -

Even though Gaucher disease is one of the better known rare diseases and diagnostic testing is available, some patients still go for 10 years or longer without getting an accurate …

Continue reading “Even “Well Known” Rare Diseases Pose Diagnosis Problems”

Informed Consent in Biobank Research

Published August 1, 2013 by NORD

Categorized in -

Genetic biobanks, storage facilities for DNA, genetic data and tissue samples, are becoming more prevalent in the rare disease community. The information and samples can be made available to approved …

Continue reading “Informed Consent in Biobank Research”

Supreme Court Decision Consistent With Longstanding NORD Position

Published June 14, 2013 by NORD

Categorized in -

Yesterday’s ruling by the U.S. Supreme Court that human genes are a product of nature and cannot be patented is being hailed by many as a victory for patients and …

Continue reading “Supreme Court Decision Consistent With Longstanding NORD Position”

New Guidelines on Testing Kids’ DNA–the Cliff’s Notes Version

Published March 12, 2013 by NORD

Categorized in -

Exomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children.

Can IBM Watson Replace Dr. Dhaliwal? Probably Not!

Published December 6, 2012 by NORD

Categorized in -

Everyone in the rare disease community who watched IBM’s “Watson” computer perform on “Jeopardy” early this year probably started to wonder about the potential of “Watson-like” systems to assist doctors …

Continue reading “Can IBM Watson Replace Dr. Dhaliwal? Probably Not!”