NORD Publishes New Online Physician's Guide to Gaucher Disease

Sep 05, 2013, 09:00 ET from National Organization for Rare Disorders (NORD)

Guides are produced by NORD to promote earlier diagnosis and treatment for patients

WASHINGTON, Sept. 5, 2013 /PRNewswire-USNewswire/ -- The National Organization for Rare Disorders (NORD) has launched a new online Physician's Guide to Gaucher Disease to encourage early diagnosis and treatment for patients with this rare metabolic condition.


The author of the guide is Roscoe Brady, MD, who is well-known for his pioneering research on Gaucher disease and related rare disorders.  Dr. Brady's work at the National Institutes of Health (NIH) led to major advances in understanding the cause of the disease, diagnostic testing, and treatment.

"Even with rare diseases that are relatively well known, patients often go for many years without an accurate diagnosis," said NORD President and CEO Peter L. Saltonstall.  "We believe resources such as the NORD Physician Guides will help promote physician awareness and, therefore, earlier diagnosis and treatment for patients."

The guide is one of several now available on a new platform for physicians launched last year by NORD at

The NORD guides are made possible by funding from patient organizations, individuals and pharmaceutical companies.  NORD is responsible for the content of each guide, working with medical experts such as Dr. Brady. 

Funding for the NORD Physician's Guide to Gaucher Disease was provided by Pfizer.

"Pfizer is committed to improving the lives of patients with rare diseases, including Gaucher disease," said William Kennally, President, North America, Established Products, Pfizer. "We are proud to partner with NORD to educate physicians about this condition so that patients can be appropriately diagnosed and receive the treatment they need."   

Launched approximately one year ago, the NORD Online Physician Guides have attracted thousands of physician visitors from more than 130 countries around the world.  NORD considers the online guides an important part of its mission to improve the lives of all people affected by rare diseases by promoting physician awareness and supporting timely diagnosis and treatment.

A long-time medical adviser to NORD, Dr. Brady also has shared his medical expertise and guidance for many years with the National Gaucher Foundation and other patient organizations.  As a member of NORD's Medical Advisory Committee, he has helped make it possible for NORD to administer an independent program of research grants to encourage study of rare diseases for which other sources of funding may not be available.

For many years, Dr. Brady was chief of the Developmental and Metabolic Neurology Branch in the National Institute of Neurological Disorders and Stroke (NINDS).  He has received many prestigious awards over the years including ones from the Lasker Foundation, National Academy of Sciences, and Harvard Medical School.  In 2008, he was a recipient of the National Medal of Technology and Innovation presented at the White House by President George W. Bush.

SOURCE National Organization for Rare Disorders (NORD)