September 2023 Rare Disease News

There’s 39 days and counting until NORD's 2023 Rare Diseases and Orphan Products Breakthrough Summit in Washington, DC, October 16-17!

Register today to be among those who will benefit from NORD’s full agenda which includes insightful and provocative discussions with global rare disease advocates, industry leaders, regulatory agencies, researchers, patient advocacy organizations and more. Don’t miss out on featured speakers including FDA experts Peter Marks, MD, PhD, Director, Center for Biologics Evaluation and Research (CBER), Patrizia Cavazzoni, MD, Director, Center for Drug Evaluation & Research (CDER), and Jeff Shuren MD, JD, Director, Center for Devices & Radiological Health.

Hotel accommodations are available at the Marriott Marquis in Washington, DC.

We’re excited to announce that NORD is now accepting applications for three new grant funding opportunities for three different rare diseases. The deadline for each grant is October 16, 2023. These grants are made possible with funding support from private donors and Foundations and are as follows:

1) With funding from the Tyler James Abizeid Foundation, NORD is accepting applications for one grant of up to $35,000 US, for scientific and/or clinical research studies related to Arteriovenous Malformation (AVM).
2) With funding by the Maxwell Family, NORD is accepting applications for one grant of up to $40,000 US, for scientific and/or clinical research studies related to Levy-Yeboa Syndrome (LYS).
3) With funding from the MMIHS Foundation, NORD is accepting applications for one grant of $30,000 US for scientific and/or clinical research studies related to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).

NORD’s Research Grants Program provides seed-money grants to qualified investigators for scientific and clinical research into diseases for which there are few other sources of funding. These grants are competitive and international. Grants will be awarded to qualified researchers to initiate small scientific research studies or clinical trials, the results of which could be used to obtain funding from the NIH, FDA, or other funding agencies, or to attract a corporate sponsor.

Millions of rare disease patients are at risk of losing Medicaid coverage solely for administrative reasons without knowing they have lost coverage. According to the KFF, as of August 8, nearly 4 million enrollees have lost coverage since disenrollment began in April 2023. On Thursday, September 14, NORD will host a webinar to share information and resources to help rare disease patients successfully navigate nationwide changes to Medicaid coverage, also known as “Medicaid unwinding.” Sign up here for NORD’s webinar to understand how changes to the Medicaid program could impact you!

On August 29 as a part of the Medicare Drug Price Negotiation Program under the Inflation Reduction Act, Centers for Medicare & Medicaid Services (CMS) announced the 10 products that will be subject to price negotiation beginning January 1, 2026.

As part of the negotiation process, CMS announced a series of patient listening sessions on each of the products selected for negotiation that will be held October 30 – November 15, 2023. This is an important opportunity for patients that utilize these selected therapies to make their voices heard about the benefit of these selected drugs.

The products selected for the first round of negotiation are:

NORD's comprehensive Rare Disease Database® offers vital information on more than 1,300 rare diseases including their symptoms, causes, treatments, clinical trials, and sources of help such as patient advocacy organizations. NORD's Rare Disease Database is a leading source utilized by patients, physicians, researchers, and regulators to understand and treat rare disorders.

Check Out New Reports

NORD's Educational Initiatives team updated 36 reports and added new reports on Okur-Chung Neurodevelopmental Syndrome and WDR26-Related Disorder in the Rare Disease Database®.

Drug development is extremely challenging for rare diseases because of small patient populations, which contributes to limited understanding of how these diseases can manifest and progress. One way NORD and our partners are overcoming this is through the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®).

The RDCA-DAP® brings together the experiences of patients and the clinical data of researchers to improve the medical community's understanding of rare diseases and accelerate clinical drug development. NORD partners with the Critical Path Institute on the RDCA-DAP® initiative by helping patient groups contribute their IAMRARE® patient registry data and by educating the rare community about the important role of data sharing in rare disease research and treatment development.

You can learn more and access the platform itself below, and address any questions to rdcadap@cpath.org.

Uplifting Athletes is proud to announce a new program intended to assist with travel expenses for rare disease researchers and professional students: the Uplifting Athletes Researcher Travel Program. This program provides opportunities for these individuals to connect in-person with the rare disease community, fostering collaboration and ongoing communication. Learn more.

On August 1st, Uplifting Athletes launched their Request for Applications for our 2024 Young Investigator Draft grants. They will be awarding $20,000 grants to researchers who are selected through the nomination process. The application deadline is October 6. Learn more.

The Tatton Brown Rahman Syndrome (TBRS) Community will be holding the 2023 TBRS Community Summit for the first time since 2019! This year they are combining their Family Conference and Collaborative Research Network (CRN) Conference into one Summit! The event will be held October 11-15, 2023 at Morgan’s Wonderland Camp in San Antonio, Texas. This is the first-ever fully accessible camp for people of all needs! For more information, to register, and/or to learn about sponsorships, click here.

Primary sclerosing cholangitis (PSC) is a progressive disorder characterized by inflammation, thickening, and abnormal formation of fibrous tissue (aka fibrosis) within the bile ducts inside and outside the liver. This often results in the obstruction or interruption of bile flow from the liver (aka cholestasis). Our understanding of PSC is rapidly evolving, and some researchers believe it actually represents a group of disorders or a disorder with several distinct subtypes. It is likely that PSC may have different underlying causes in different individuals.

Registration is now open for the 2023 Regional Rare Neuroimmune Disorders Symposium in Dallas, Texas. Hosted by SRNA and UT Southwestern Medical Center, this is a one-day regional educational and advocacy event on Saturday, October 7. This event is for those with acute disseminated encephalomyelitis (ADEM), acute flaccid myelitis (AFM), MOG antibody disease (MOGAD), neuromyelitis optica spectrum disorder (NMOSD), optic neuritis (ON), and transverse myelitis (TM), as well as their families, care partners, and medical professionals. Learn more.

Dr. Cyrena Gawuga returned to speak with Dr. GG deFiebre of SRNA for an “Ask the Expert” episode titled "Disability and Rare Neuroimmune Disorders Part 2: Accessibility and Disability Pride." Dr. Gawuga discussed accessibility, accommodations for employment and education, and inclusion in classrooms. She shared possible solutions for a lack of accommodations in health care settings and described the meaning of Disability Pride Month. Learn more.

In the episode of “ABCs of NMOSD” titled “Sexual Dysfunction and NMOSD,” Krissy Dilger of SRNA was joined by Dr. Philippines Cabahug. Dr. Cabahug defined the types of sexual dysfunction for people who have impairment in the spinal cord. Dr. Cabahug described physical rehabilitation that can improve sexual dysfunction and how to choose a health care provider to assist with evaluation. Learn more.

Krissy Dilger of SRNA and Peter Fontanez from The MOG Project were joined by Dr. Farrah Mateen for the second episode of “ADEM Academy,” an ongoing podcast series about ADEM or acute disseminated encephalomyelitis. This episode is titled “Adult ADEM.” Dr. Mateen discussed how adults typically present with ADEM, the diagnostic process, and how it differs in other stages of life. Learn more.

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NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.