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Jun. 13, 2017

TOPIC: Medical, Press Releases, Research

NORD Publishes New Rare Disease Report on CARD9 Deficiency

Posted by Christina Jensen

Washington, D.C., June 13, 2017—As part of its ongoing series to promote awareness and education regarding rare diseases, the National Organization for Rare Disorders (NORD) has published a report on CARD9 Deficiency. This new resource is available free online to individuals around the world.

As the primary advocacy organization in the U.S. for people who have rare diseases, NORD provides educational resources for patients, caregivers and medical professionals. Disease-specific reports are developed in collaboration with NORD’s patient member organizations and independent medical experts. The reports can be accessed through NORD’s Rare Disease Database at rarediseases.org.

“People who have rare diseases often have difficulty finding accurate and easy to understand information about their condition,” said Marsha Lanes, MS, CGC, a genetic counselor and medical editor in NORD’s Educational Initiatives Department. “The purpose of NORD’s free Rare Disease Database reports is to provide information and resources to help those who may be dealing with little-known and misunderstood medical conditions.”

The report on CARD9 Deficiency was developed in collaboration with Mélanie Langelier, RN, BSc(N), MSc(N) Program Manager and Research Nurse, and Donald C. Vinh, MD, FRCP(C) Director, Infectious Disease Susceptibility Program, McGill University Health Centre – Research Institute.

“This new report is a welcome addition to NORD’s educational materials to help inform patients and health care practitioners about a rare genetic immunodeficiency called CARD9 deficiency,” said Dr. Vinh. “Raising awareness about this condition is critically important to ensure that the proper diagnosis is made in a timely manner, so that the correct treatments can be applied.”

CARD9 deficiency is a rare disorder of the immune system caused by mutations in the CARD9 gene CARD9. CARD9 deficiency is associated with an increased susceptibility to certain fungal infections which can lead to the development of conditions such as black mold disease, invasive fungal disease, mycosis, and others. CARD9 deficiency is a type of primary immunodeficiency; a group of more than 300 rare, chronic disorders in which the body’s immune system is missing or functions improperly.

NORD has published more than 1,200 disease-specific reports in its Rare Disease Database. The patient advocates who established NORD considered it a top priority to provide information about rare diseases for patients and their families. As a result, they began to develop the Rare Disease Database shortly after NORD was established in 1983. In the 1990s, when NORD launched a website, the database became available online. The reports are accessed by millions of visitors around the world each year.

“Our goal is to provide resources for every person with a rare disease, whether you are recently diagnosed or further along in your patient journey. We are thankful to both Mélanie Langelier and Dr. Vinh for their assistance in developing this report.” added Lanes.

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About the National Organization for Rare Disorders (NORD)®
The National Organization for Rare Disorders (NORD)® is the leading independent advocacy organization representing all patients and families affected by rare diseases. NORD is committed to the identification, treatment and cure of the 7,000 rare diseases that affect 30 million Americans, or 1 in every 10 people. NORD began as a small group of patient advocates that formed a coalition to unify and mobilize support to pass the Orphan Drug Act of 1983. For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most. NORD represents more than 260 disease-specific member organizations and their communities and collaborates with many other organizations in specific causes of importance to the rare disease patient community.

Media Contact:
Lisa Phelps
(203) 702-2872
lphelps@rarediseases.org

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