Rare Disease Report

NORD News for February - The Voice of the Community

FEBRUARY 15, 2017
Guest post by NORD
News from NORD and its Member Organizations – February 2017

NORD to Partner with The Hole in the Wall Gang Again This Year on Rare Disease Summer Family Camp

NORD is proud to partner once again with The Hole in the Wall Gang on a rare disease summer family camp in Connecticut! The camp provides a special opportunity for children and families impacted by rare diseases to join together for a weekend of pure fun – free of charge. Camp is open to 25 families who are located in the Northeast. It will take place June 1 – 4 in Ashford CT. Apply here.

Share Your Story to Help NORD Protect Your Healthcare Coverage

The new administration and Congress are re-examining the U.S. health insurance system with the goal of repealing the Affordable Care Act and replacing it with a new system. NORD is working hard to ensure that coverage protections for rare disease patients remain by coordinating strategy with rare disease patient organization partners and conducting meetings on Capitol Hill.
You can support NORD’s efforts to protect healthcare coverage for the rare disease community by helping to convey the patient experience. If you have a story to share on any of the following topics, please consider making your voice heard by filling out this form.
·      High risk pools
·      Annual and lifetime limits on coverage
·      Loss in health insurance coverage

Raise Your Hand for Rare Disease Research

Once again this year, Lundbeck Pharmaceuticals is making a donation to NORD’s Research Program for every click on the “Raise Your Hand” symbol being circulated on social media. This is the 8th year that Lundbeck has sponsored this campaign during the month leading up to Rare Disease Day. Each click on the symbol results in a $1 donation, up to a total of $10,000.
NORD’s Research Program provides grants for the study of rare diseases for which, in many cases, no other research funding is available. The Lundbeck campaign has made possible several grants over the years including two – for malonic aciduria and stiff person syndrome – awarded in 2016.

Join NORD and ABC News for a Tweetchat on Rare Disease Day

NORD and ABC News will co-host a tweetchat on Rare Disease Day (Feb. 28th) at 1 pm EST. Dr. Richard Besser, chief of the ABC News Medical/Health Unit, will pose timely questions for the entire rare disease community. Medscape will also collaborate on this year’s chat.
This will be the 4th annual NORD/ABC News Rare Disease Day tweetchat. NORD will be live-tweeting from @RareDiseases and @RareDiseaseDayUS with a team that will include Marsha Lanes, MS, CGC, a genetic counselor on the NORD staff.  Dr. Besser will moderate the chat from @abcdrbchat. Medscape will join from @Medscape.
Everyone is invited to join the conversation using the hashtag #abcdrbchat. Afterward, all are welcome to continue the conversation using #RareDiseaseDay, the official global hashtag for Rare Disease Day being used in the US and around the world.

Attend a Rare Disease Day Event in Your State

NORD and its Rare Action Network are organizing State House Events in more than 35 states for Rare Disease Day 2017. These events are intended to promote understanding of rare diseases and related issues among state legislators.
In addition, many Rare Disease Day events being planned at hospitals and other community locations are open to the public. You can find out here if an event is being planned in your state and whether there may be opportunities to participate. If you are planning a Rare Disease Day event and haven’t yet done so, you should post it here so that others may learn about it.

NORD Publishes Report on Spontaneous Intracranial Hypotension (SIH)

As part of its ongoing educational outreach, NORD has published a report on Spontaneous Intracranial Hypotension (SIH) in its Rare Disease Database. The database covers more than 1,200 rare diseases and is available to all on the NORD website. Reports may be read online or downloaded free of charge.
The report on SIH was developed in collaboration with Connie Deline, MD, co-founder of the Spinal CSF Leak Foundation, and Wouter I. Schievink, MD, professor of neurosurgery, Cedars-Sinai Medical Center. The hope is that the new report will help to reduce diagnosis delay and also be helpful to newly diagnosed patients. To promote awareness of SIH, February 26 to March 4 has been designated the first spinal CSF leak awareness week.


Alport Syndrome Foundation Announces Research Funding

The Alport Syndrome Foundation has announced the availability of funding for research to find novel treatments to prevent kidney failure and hearing loss in all patients with Alport syndrome. Two $100,000 projects are anticipated. Proposals are due March 20, 2017.

CORD Offers Consensus Framework for Ethical Collaboration

The Canadian Organization for Rare Disorders (CORD) has developed a Consensus Framework to encourage ethical collaboration among patient organizations, healthcare professionals and the pharmaceutical industry.

Cutaneous Lymphoma Foundation Announces Dates for Patient Conference

The Cutaneous Lymphoma Foundation’s annual two-day patient conference will take place on June 24-25 in Manhattan Beach, CA. More.

DUP15q Alliance Family Conference is Planned

The 9th International DUP15q Alliance Family Conference, “Navigating the Future,” is scheduled for July 24-26 in Redondo Beach, CA. More. 

Foundation for Prader-Willi Research Promotes Awareness of Guidelines and Research Related to Use of Human Growth Hormone

The Foundation for Prader-Willi Research has published a blog and a brochure regarding recent findings related to use of growth hormone for those affected by Prader-Willi syndrome. Summary of recent reports on this topic. International consensus guidelines.

Hydrocephalus Association is Accepting Research Proposals

February 23 is the deadline to submit letters of intent for research on post-infectious and post-hemorrhagic hydrocephalus through the Hydrocephalus Association 2017 Innovator Awards program. The initiative provides seed funding for research related to understanding of disease mechanisms and development of novel therapies or treatment approaches.

IPPF Announces Seed Grant Program

The International Pemphigus and Pemphigoid Foundation (IPPF) has announced a seed grant program to encourage and support patient-oriented research on pemphigus and pemphigoid. The IPPF anticipates awarding four to eight grants in 2017 with values ranging from $25,000 to $50,000.

Myotonic Dystrophy Foundation Publishes a Toolkit on Applying for Social Security Disability Benefits

The MDF has created a toolkit to help individuals and families affected by myotonic dystrophy understand the process of applying for Social Security Administration disability benefits. This resources is available online and in hard copy. The toolkit and other MDF resources are available here.

Multiple System Atrophy Coalition Calls for Research Proposals

The MSA Coalition has issued a call for research proposals. Seed grants of up to $50,000 each are available. March 6 is the deadline for pre-proposals. All applications must be submitted to the MSA Coalition by email.

Myasthenia Gravis Foundation of America Conference Set for March 26-28

The Myasthenia Gravis Foundation of America’s national conference will take place March 26-28 in New Orleans. More.  

National Porphyria Awareness Week is April 22-29

The America Porphyria Foundation urges all to join in observing National Porphyria Awareness Week April 22-29. More.

National Spasmodic Dysphonia Association Seed Grant Leads to Major NIH-Funded Study

An NSDA seed grant funded a study by Dr. Theresa Kimberley of the University of Minnesota of connection among brain areas involved in vocalization. Now, with information gained from that study, Dr. Kimberley sought and has been awarded a major NIH grant to continue the research. More.

Pemphigus/Pemphigoid CME Online Courses Are Available for Dermatologists and Rheumatologists

The IPPF has announced availability of the following online CME credit courses:
·      The Role of Emerging Therapies in the Management of Pemphigus Vulgaris for Dermatologists
·      Contemporary Management of Pemphigus Vulgaris: The Role of the Rheumatologist
Additional information is available here.

Soft Bones Foundation Extends Seed Grant Application Deadline

The deadline has been extended to April 15 for a seed grant ($25,000) being offered by the Soft Bones Foundation for basic or clinical research directly related to hypophosphatasia. Inquiries may be directed to Denise Goodbar at denise@softbones.org. Apply here.

Transverse Myelitis Association Announces 2017 Rare Neuro-Immune Disorders Symposium

Registration begins in February for the 2017 Rare Neuro-Immune Disorders Symposium to take place October 20-21 in Columbus, OH. This education and advocacy conference will be for families, caregivers and individuals diagnosed with acute disseminated encephalomyelitis (ADEM), neuromyelitis optica spectrum disorder (NMOSD), optic neuritis (ON), and transverse myelitis, including the subtype acute flaccid myelitis.

Williams Syndrome Association Announces Plans for 2017 Camps

Each summer, youth and teens with Williams syndrome enjoy camping experiences especially designed for them by the Williams Syndrome Association. This year, there is also a first-time camp for adults. Information and registration

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