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| GET READY TO ROCK WITH SINGER SONGWRITER ART ALEXAKIS, OF EVERCLEAR
Registration to the Living Rare Forum includes a ticket to the Rare Impact Awards, which will be hosted at the Rock & Roll Hall of Fame. Everclear guitarist, Art Alexakis, will emcee and perform three songs throughout the evening as we celebrate our honorees.
We look forward to welcoming you in Cleveland for a day of learning, sharing, and bonding. If you are unable to join us in person, you can still attend the program virtually via livestream.
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CALLING ALL POSTER PRESENTERS
The NORD Rare Diseases and Orphan Products Breakthrough Summit is one of the most impactful multi-stakeholder gatherings of the rare disease community in the country. This year's event will take place in Washington, DC on October 17-28.
We are now accepting poster abstract submissions, which must be received through the NORD website no later than Monday, August 1, 2022 at 11:59pm ET. You can view the poster guidelines to learn more here.
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NEW RESOURCES ADDED TO NORD’S LEARNING PLATFORM
To continue to support the growth of nonprofit organizations, RareLaunch has added three new resources to our virtual learning platform!
If you are interested in growing your nonprofit, view our new lesson on recruiting board members, a five minute summary video on the value of patient registries, and a new guide on finding and connecting with your rare community.
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NORD ANNOUNCES OVER $100,000 IN GRANT FUNDING AVAILABLE FOR RARE DISEASE RESEARCH
NORD has three new requests for proposal (RFP) available for grant funding. The NORD Jayne Holtzer Rare Disease Research Grants Program collects donations to disease-specific research funds and provides seed-money grants to qualified investigators for scientific and clinical research.
The deadline to submit a letter of intent is Tuesday, June 21.
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BIG NEWS! THREE NEW RARE DISEASE ADVISORY COUNCILS (RDAC) ARE MADE LAW
Rare Disease Advisory Council legislation was signed into law in Maine, Georgia, and Connecticut. Additionally, RDAC legislation passed through Colorado's state legislature and awaits the Governor’s signature. None of this incredible progress would have been possible without the advocates and grassroots volunteers who reached out to their lawmakers to move these important bills forward.
Thanks to you, patients with rare disorders in these states
will have a stronger voice in their state government.
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KEY RARE DISEASE ADVOCACY PRIORITIES INCLUDED IN PDUFA REAUTHORIZING LEGISLATION
This spring, NORD and 90 other organizations sent letters to congressional leaders and Health and Human Services Secretary Becerra urging them to use their authority to preserve and strengthen patient access to critical, often life-saving therapies that come to market through the Food and Drug Administration’s (FDA) accelerated approval pathway. Many of the major policy recommendations to improve the accelerated approval pathway that we supported were included in the House of Representatives legislation (HR 7667) that was introduced this month.
Thank you again to all of our partners in this important work, your advocacy has made a big difference!
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FDA News
RECENT DRUG APPROVALS- Dupixent (dupilumab) has been approved to treat adults and children with eosinophilic esophagitis (EoE). This is the first the first FDA approved treatment for EoE. Dupixent is manufactured by Regeneron Pharmaceuticals, Inc. Read the press release.
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Resources for the Community
Over the last month, NORD's Educational Initiatives team updated five rare disease reports in the Rare Disease Database®.
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JOIN NORD AT WORLD ORPHAN DRUG CONGRESS USA
Hear from NORD President and CEO Peter L. Saltonstall, NORD Chief Medical and Scientific Officer Edward Neilan, and NORD Director of Research Programs Aliza Fink at the 2022 World Orphan Drug Congress USA on July 11-13!
Get 50% off when you register with code SPK50.
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| THE GLOBAL PAROXYSMAL NOCTURNAL
HEMOGLOBINURIA (PNH) PATIENT REGISTRY
Every patient’s story and experience are a unique, invaluable part of a disease’s natural history. Log on to your profile in the Global PNH Patient Registry today and share your experience with paroxysmal nocturnal hemoglobinuria.
As a thank you, eligible participants who complete the baseline surveys may select to receive a digital gift card totaling $75 USD. Please note, gift cards may take up to 6-8 weeks to process once selected, pending eligibility verification.
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COLD AGGLUTININ DISEASE (CAD)
Swedish Orphan Biovitrum is sponsoring a phase 3, randomized, double-blind, placebo-controlled, multi-center study to assess the safety and efficacy of pegcetacoplan in increasing hemoglobin levels from baseline in patients with CAD in order to avoid transfusion. More.
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA (PNH)
Apellis Pharmaceuticals, Inc. is sponsoring an open-label, single-arm, phase 2 study to evaluate the safety, efficacy and biological
activity of pegcetacoplan in adolescents 12-17 years old with PNH. More.
SJOGREN’S SYNDROME
Janssen Research & Development, LLC is sponsoring a randomized, placebo-controlled, double-blind, multicenter study to assess the safety and efficacy of nipocalimab in treating adult patients with primary Sjorgren’s syndrome (pSS). More.
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Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) News
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UPCOMING WEBINAR
Using Ontologies to Standardize Rare Disease Data Collection
Date: Wednesday, June 15
Time: 12pm ET
This webinar, presented by Monarch Initiative, will provide an overview of biomedical ontologies and demonstrate how they can be used for standardizing and integrating data and downstream analyses. In addition, the team will discuss why you should contribute to ontology development efforts and how to do it.
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LEARN MORE ABOUT HOW PATIENTS AND CAREGIVERS CAN BECOME INVOLVED IN RESEARCH FOR RARE DISEASE THERAPIES
Watch NORD and C-Path's video, How Will RDCA-DAP® Support
Patient-Focused Drug Development? This video provides insight on how the RDCA-DAP can support patient-focused drug development and help to ensure that patient voices are heard in rare disease research.
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WEBINAR RECORDING FOR GENERATING SYNTHETIC LONGITUDINAL DATA NOW AVAILABLE
In this webinar, Replica Analytics' Dr. Khaled El Emam is joined by Director of Data Science Lucy Mosquera to provide a general introduction to synthetic data generation (SDG), explaining what it means, how it works and what technologies are used, as well as an overview of the use cases where
synthetic data can provide value in the context of real-world data and clinical trial data in collaboration with C-Path.
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THE RDCA-DAP TEAM LOOKS FORWARD TO MEETING YOU!
Members of the RDCA-DAP team will be at upcoming conferences in June, including the 2022 DIA Global Annual Meeting, the 2022 United Mitochondrial Disease Foundation (UMDF) Mitochondrial Medicine Symposium, and the 2022 PAGE Conference.
PLATFORM ENGAGEMENT
OVERVIEW
Since launching the platform, we've seen the following engagement from users:
- 180 approved platform requests
- 16
approved workspaces for external users
- 59 active workspace users
- 70 total datasets loaded at varying levels
- 19 "internal" - ready to be searched and requested by external researchers
- 51 "private" - internal use only or in process of curation
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ASXL RARE RESEARCH ENDOWMENT FOUNDATION
The ASXL Research Symposium
will take place from July 21-22 in Los Angeles, CA for researchers and clinicians with an interest in ASXL-related disorders. Be a part of the conversations between individuals studying aspects of the ASXL genes and ASXL syndromes. Learn more.
CACNA1A FOUNDATION
The CACNA1A Community Conference will be held from July 22-23 in San Antonio, TX. This educational conference is for patients, parents, caregivers, clinicians, and researchers. The main objectives will be to impart knowledge of CACNA1A-related diseases, share best practices regarding standards of care, and present recent research advancements and the therapeutic pipeline. Learn more.
CHARCOT-MARIE-TOOTH ASSOCIATION (CMTA)
By participating in CMTA’s year-round Walk 4 CMT campaign, you will be joining thousands of others across the country who want to improve the lives of those living with CMT. Funds raised by the Walk 4 CMT campaign fuel the CMTA to find treatments for CMT and ultimately a cure. Learn more.
CHOROIDEREMIA RESEARCH FOUNDATION (CRF)
The 2022 CRF International Conference for choroideremia patients and family members will be held on June 15-18 in Rochester, NY at the Woodcliff Hotel and Spa. The event will feature presentations on research, a low vision exhibit/product demonstration area, information on supportive services, and opportunities for networking and socialization. Learn more.
CMTC-OVM
Join CMTC-OVM'S public webinars about vascular
malformations! These webinars are monthly and include up-to-date topics and developments in the field of CMTC-OVM. Learn more.
CURE HHT FOUNDATION
Cure HHT’s Center of Excellence (CoE) funding request made it into the final spending bill that was recently signed into law by President Biden. The new "National HHT Diagnosis and Treatment Initiative" will provide $2 million in funds to our existing CoE in the US to help expand staffing, improve infrastructure, and provide aid in the establishment of new CoEs. Learn more.
INTERNATIONAL FOUNDATION FOR GASTROINTESTINAL DISORDERS (IFFGD)
Registration for the IFFGD's 2022 Virtual Digestive Health Wellness & Walk Event: A Unique Charitable Event with Achievable Goals for All is now open! Participants will get credit for walking and being active for steps taken during the event. This event will also award points to participants for self-care, wellness, and outreach activities and takes place from July 9-16. Learn more.
NATIONAL ADRENAL DISEASES FOUNDATION (NADF)
An adrenal crisis is a potentially life‐threatening medical emergency. NADF’s emergency handouts are vital for safe management of an adrenal crisis. The handouts include an adrenal crisis alert flyer and a step-by-step guide to administering the emergency Solu-Cortef injection. Learn more.
NATIONAL TAY-SACHS & ALLIED DISEASES ASSOCIATION (NTSAD)
NTSAD is hosting the 44th Annual Family Conference from July 7-10 in Denver, CO for anyone coping with a diagnosis or loss from Tay-Sachs, Canavan, GM1 gangliosidosis, or Sandhoff diseases. The four-day conference provides professional and peer support and the latest updates on research and clinical trials. Learn more.
PARENTS AND RESEARCHERS INTERESTED IN SMITH-MAGENIS SYNDROME (PRISMS)
PRISMS 11th International Conference will be taking place from August 4-6 in Dallas, TX. The International Conference is PRISMS’ premier event and provides information about Smith-Magenis syndrome to patients, families, and professionals. Learn more.
SSADH ASSOCIATION
SSADH welcome all patients with succinic semialdehyde dehydrogenase deficiency (SSADHD), along with their families, caregivers, teachers, aids, therapists, researchers, and physicians to engage and give your perspective on daily life with SSADHD at the externally-led patient-focused drug development (EL-PFDD) Meeting on Thursday, July 7. Learn more.
UNITED LEUKODYSTROPHY FOUNDATION (ULF)
ULF Family Conference is an annual event where affected families can access the world’s top leukodystrophy physicians and researchers. The conference aims to provide the latest scientific information to keep families informed on advances in the field, and guide families on topics that will improve their overall quality of life while living with a leukodystrophy. It will
be held in-person from June 24-25 in Itasca, IL. Learn more.
UPLIFTING ATHLETES
Uplifting Athletes is excited to announce that the 2023 Young Investigator Grants Request for Applications (RFA) will open on Monday, August 1! Young Investigator Grants fund collaborative basic research in order to positively impact treatments and potential cures for the entire rare disease community. Learn more.
VHL ALLIANCE
VHL Alliance is seeking a dynamic Development Director to join their team! Contact chandra.clark@vhl.org if you are interested in this career opportunity. Learn more.
WINGS OF HOPE
Wings of Hope is seeking a Global Humanitarian Network Manager responsible for improving the sustainability of their global programs through fundraising and impact initiatives. This is a great opportunity for someone seeking to positively impact communities around the world. Learn more.
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NORD, a 501(c)(3) organization, is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 330 patient organization members, is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and patient services. rarediseases.org
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