NORD News for August - The Voice of the Community

Guest post by NORD

NORD Announces 2016 Grant Opportunities: Letters of Intent Due September 12

NORD has announced its 2016 Requests for Proposals (RFPs) for research studies related to the following rare diseases:
·      Alveolar Capillary Dysplasia (ACD)
·      Appendix Cancer and Pseudomyxoma Peritonei (PMP)
·      Autoimmune Polyglandular Syndrome Type 1 (APS Type 1)
·      Homocystinuria due to Cystathionine Beta-Synthase Deficiency
·      Malonic Aciduria
·      Stiff Person Syndrome

The object of the NORD Research Grant Program is to encourage meritorious scientific and clinical research that will lead to new diagnostics, treatments and/or cures for rare diseases. NORD’s Research Grant Program provides seed grants to clinicians and academic scientists for translational or clinical studies. Data generated in these studies may then be used by researchers to obtain additional funding from government or industry sponsors. Two of NORD’s previous research grants have resulted in FDA-approved orphan products to treat rare diseases.

The deadline to submit letters of intent is September 12. Submissions should be sent to Click here to view each RFP in full.

Running For Rare Team Seeks Runners and Patient Partners to Help NORD Assist Undiagnosed Patients

The Running for Rare Team is recruiting both runners and patient partners to help promote awareness of rare diseases and raise funds to assist undiagnosed patients. The team will run in the Eversource Hartford (CT) Marathon to take place on October 8 and other upcoming marathons and half-marathons.  

Funds raised by the team support the NORD/Undiagnosed Diseases Network (UDN) Patient Assistance Program. This program provides financial assistance to cover the cost of diagnostic testing for applicants to the Undiagnosed Diseases Network.

For several years, the team has been running on behalf of all rare disease patients. Each runner is paired – through NORD – with a patient partner who provides inspiration during events and the long months of training. Runners and their partners share a mutually supportive relationship and together promote rare disease awareness.

Applications are being accepted now from both runners and patient partners. Questions may be directed to

NORD Publishes Expanded Access FAQ

To help people living with rare diseases – and their caregivers – understand the process for accessing unapproved therapies, NORD has published an Expanded Access FAQ. It covers topics such as how to determine whether you are eligible for expanded access, how to apply and what to expect from the application process.


First Patient-Centered Charcot-Marie-Tooth Summit To Take Place On October 6
The Hereditary Neuropathy Foundation will host the first Patient-Centered Charcot-Marie-Tooth Summit in New York City on Oct. 6. This event will bring together thought leaders in clinical care, research, industry and patient advocacy to focus on advancing diagnosis, research, treatment and access to care. The summit will draw together patients, caregivers, clinicians, researchers and other healthcare stakeholders.

Hydrocephalus Association Seeks Applications for Innovator Awards for Research on Posthemorrhagic Hydrocephalus
Seed funding is available for bold and innovative research directed toward understanding of disease mechanisms and development of novel therapies and treatment approaches. September 1 is the deadline for letters of intent with full proposals due on November 3. Questions may be directed to

Thirty Grants Are Available for Rare Disease Research Through Million Dollar Bike Ride Program
Patient organizations including several NORD members and the Million Dollar Bike Ride Program at the University of Pennsylvania Orphan Disease Center have made possible 30 research grants for the study of various rare diseases. September 16 is the deadline for letters of intent.

The diseases to be studied are: adult polyglucosan body disease, ataxia-telangiectasia, Castleman disease, CFTR nonsense mutations, congenital hyperinsulinism, congenital muscular dystrophy, CRB1 degenerative retinal disease, nonsense mutations in cystic fibrosis, dyskeratosis congenita & telomere biology disorder, fibrous dysplasia/McCune Albright syndrome, generalized lymphatic anomaly and Gorham-Stout disease, Glut 1 deficiency, LAM, mucolipidosis type 4, mucopolysaccharidoses, Niemann Pick type C, Pitt Hopkins syndrome, RASopathies, Snyder-Robinson syndrome, and Tay-Sachs disease.
Alpha-1 Diagnosis and Treatment Guidelines Published
New clinical guidelines for the diagnosis and treatment of Alpha-1 antitrypsin deficiency in adults have been published in the Journal of the COPD Foundation and endorsed by the Alpha-1 Foundation Medical and Scientific Advisory Committee.  The guidelines recommend best practices on testing for Alpha-1, managing Alph-1 lung and liver disease, and when augmentation therapy should be prescribed.

 “We believe the Summary of Recommendations of these guidelines is the most efficient tool that busy physicians have ever had to follow best practices in detection, diagnosis and treatment of Alpha-1 in adults,” said Robert Sandhaus, MD, PhD, who co-chaired the Guidelines committee. “The Alpha-1 community has long needed more accessible guidelines based on the latest scientific literature.

PRISMS Publishes New Resource on Residential Options for Adults With SMS
A new resource on residential options for adults with Smith-Magenis syndrome may also be helpful to other rare disease communities, particularly those involving developmental and/or intellectual delays. The guidebook was developed and published by PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome).

Smith-Magenis Guidebook: Exploring Adult Residential Living is available at no charge as a downloadable pdf on the PRISMS website. Hard copies may be purchased from PRISMS for a nominal fee. The guidebook includes information about different living situations in the home and community, with case studies contributed by families across the U.S.

Researchers in Japan and St. Louis Receive Grants to Study Alport Syndrome
The Alport Syndrome Foundation (ASF), Pedersen Family and The Kidney Foundation of Canada (KFOC) have announced that joint funding has been awarded for two new research projects on Alport syndrome, a rare genetic kidney disease.

The researchers and their studies are: Dr. Hirofumi Kai, Kumamoto University, Japan, “Search for Therapeutic Reagents by Modeling Alport Syndrome in Mice and Humans” and Dr. Jeffrey Miner, Washington University, St. Louis, “5-Ht2b Antagonism as a Strategy to Prevent Renal Function Loss in Alport Syndrome.”

The Alport Syndrome Foundation and its partners have provided over $2 million for Alport syndrome research in the US, Australia, Japan, Germany and Canada. Alport syndrome is a rare hereditary kidney disease that causes kidney failure, hearing loss, and vision abnormalities.

September is Children’s Cardiomyopathy Awareness Month
The Children’s Cardiomyopathy Foundation will be featuring special awareness activities for pediatric cardiomyopathy throughout the month of September. Pediatric cardiomyopathy is chronic and potentially life-threatening heart disease that affects how the heart muscle pumps blood.

Multiple System Atrophy Patient & Family Conference to Take Place October 14-15
Patients, caregivers and professionals are invited to the annual MSA Patient & Family Conference on Oct. 14-15 in New Orleans. This event is hosted by the MSA Coalition.

3rd World Congress on Cutaneous Lymphomas to Take Place October 26-28
Columbia University will be the setting for the 3rd World Congress on Cutaneous Lymphomas Oct. 26-28 sponsored by the International Society of Cutaneous Lymphoma in collaboration with the US Cutaneous Lymphoma Consortium and the European Organization for Research and Treatment of Cancer Cutaneous Lymphoma Task Force.

This year, the Congress will be accompanied by a two-day patient conference where news from the World Congress will be summarized and presented to patients. The patient conference will take place Oct. 29-30 and is being organized by the Cutaneous Lymphoma Foundation.

Castleman Disease Collaborative Network to Host Patient & Loved Ones Summit
The Second Annual Patient & Loved Ones Summit will take place in Philadelphia on November 4-5, hosted by the Castleman Disease Collaborative Network. The agenda will include opportunities to learn about the disease, hear research updates, and interact with medical experts.

Events Planned at New York Amusement Parks to Benefit Daybreak Children’s Fund and NORD
August 31 will be “Rare Day” at two New York City-area amusement parks, and a portion of the proceeds from both parks on that day will be donated to Daybreak Children’s Rare Disease Fund and to NORD. The two parks are Luna Park at Coney Island and Victorian Gardens at Wollman Rink in Central Park.
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