NORD News for May - The Voice of the Community

Guest post by NORD

For Physicians, Patients and Caregivers: A Free Webinar on NIH Undiagnosed Diseases Network (UDN)

NORD and UDN to Co-host  Overview of Program and Application Process   

On Friday, June 3, NORD and the NIH Undiagnosed Diseases Network (UDN) will co-host a free webinar from 1 to 2 p.m. ET for clinicians, researchers, and patients. The program will provide an overview of the UDN, along with information about how to apply and how applications are evaluated. Financial considerations also will be discussed.

The UDN was established last year as a research project supported by the NIH Common Fund. It brings together clinical and research experts from across the U.S. to try to solve the most challenging medical mysteries.

Patients with longstanding unexplained symptoms can receive an in-depth clinical and research examination at one of seven major medical centers through the UDN. Applications may be submitted through an online portal, and information is provided by both patients and their physicians.  

Webinar speakers will include a patient who has experienced the UDN evaluation, as well as Katrina Dipple, MD, PhD, Principal Investigator at the UDN UCLA Clinical Site; Vandana Shashi, MD, Principal Investigator for the UDN Duke University Clinical Site; and Kimberly Splinter, MS, CGC, Genetic Counselor and Clinical Project Manager, UDN Coordinating Center, Harvard Medical School.

Register here for this free webinar. Questions may be directed to 

NORD Assistance Program to Help Patients with Dialysis-Related Amyloidosis

In 2015, the Food and Drug Administration authorized use of the first device to treat dialysis-related amyloidosis (DRA). Now NORD has established a program to help patients who qualify on the basis of financial need access that device.

DRA is a chronic, progressive condition caused by the buildup in the body of a protein called beta 2-microglobulin. As this substance builds up in the blood, deposits of protein can form in the bones, joints and tendons causing painful, stiff joints; bone cysts that can lead to bone fractures; and torn tendons and ligaments. These deposits can also affect the digestive tract and organs such as the heart and lungs.

The device – known as the Lixelle Beta 2-microglobulin Apheresis Column – removes beta 2-microglobulin from the blood and is used in conjunction with hemodialysis. It is manufactured by Kaneka Corporation in Japan and distributed in the U.S. by Kaneka Pharma America.

Patients or physicians seeking to learn more about NORD’s program may visit the NORD website, write to, call (877) 241-7220, or fax (203) 428-4472.

This is just one of many Patient Assistance Programs (PAPs) administered by NORD to promote patient access to life-sustaining or life-saving therapies. These include medication-specific, disease-specific, and clinical trial travel programs.

In addition, NORD recently launched a program in collaboration with the NIH Undiagnosed Diseases Network (UDN) through which applicants to the UDN are referred to NORD if they need financial assistance for medical or diagnostic testing required to complete their application. This program for undiagnosed patients is made possible by the Running For Rare team of marathon runners.

In recent months, some business analysts have criticized PAPs as a cause of growth in prescription drug spending and overall healthcare costs. NORD pioneered PAPs as a way to help patients who could not otherwise access medically necessary therapies and recently published a policy statement explaining their fundamental importance for individuals and families struggling with rare diseases.

2016 IFOPA Competitive Research Grant Call for Proposals
The International FOP Association has issued a call for proposals for its 2016 Competitive Research Grants to help accelerate development of a safe and transformative therapy for fibrodysplasia ossificans progressiva (FOP). Grants should be focused on discovery and advancement of new therapeutic approaches to FOP with a disposition toward approaches likely to have near-term clinical or translational relevance. For more information, please visit their website or email them at

Pulmonary Hypertension Association Names New President and CEO
Brad A. Wong has been named president and CEO of the PHA, the nation’s oldest and world’s largest organization supporting patients, caregivers, medical professionals and scientists in combatting pulmonary hypertension (PH) or high blood pressure of the lungs.

Researchers in Tel Aviv Describe Genetic Basis for Pemphigus
Researchers at the Sourasky Medical Center in Tel Aviv have published a major paper detailing findings of their ongoing study of the genetic basis for pemphigus, a rare autoimmune disease.

Upcoming Conferences and Workshops

The 14th National Conference on Hydrocephalus hosted by the Hydrocephalus Association will take place June 16-19 in Minneapolis. This conference attracts participants from all over the world, including physicians, researchers, individuals with hydrocephalus, caregivers and others.

PSC Partners Seeking a Cure is hosting its 12th Annual Meeting in New Haven in collaboration with the Yale University Liver Center on June 24-26. The International PSC Study Group (IPSCSG) will be meeting at Yale University at the same time.  

The Chordoma Foundation’s two-day International Chordoma Research Workshop focused on advancing the science and treatment of chordoma will take place July 14-15 in Boston.

The Turner Syndrome Society of the US will host its national conference in Cincinnati July 22-24. In addition, a camp for teens and young women with Turner syndrome will be held July 31-August 7 in Boston.

The 12th Moebius Syndrome Foundation Conference will take place July 15-17 in Long Beach, CA.

The 2016 Oley Foundation Annual Conference will take place July 5-9 in Newport Beach, CA.

The Alport Syndrome Foundation is hosting family meetings during 2016 in Los Angeles, CA; St. Louis, MO; and Hackensack, NJ.

The 2016 FOD/OAA International Metabolic Conference will take place July 8-9 in Westminster, CO. Individuals and families affected by a fatty oxidation disorder or organic acidemia disorder are invited.

The 2016 National PKU Conference hosted by the National PKU Alliance will be held July 28-31 in Indianapolis.

The Immune Deficiency Foundation will be hosting weekend retreats during 2016 to which everyone in the primary immunodeficiency community is invited.  

CurePSP will host its Annual International Research Symposium for 2016 on October 28th in New Jersey. The symposium highlights research by CurePSP grantees and is open to all researchers interested in clinical and basic research on PSP, CBD and related tauopathies.
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