Generated by Rank Math SEO, this is an llms.txt file designed to help LLMs better understand and index this website.

# National Organization for Rare Disorders: NORD
## Posts
- [NORD Announces the 2026 Rare Impact Award Honorees Advancing Innovation, Research, and Advocacy for Rare Diseases](https://rarediseases.org/nord-announces-the-2026-rare-impact-award-honorees-advancing-innovation-research-and-advocacy-for-rare-diseases/): The National Organization for Rare Disorders (NORD®) is honoring a distinguished group of biopharma industry leaders, medical scientists, and patient advocates for their contributions to improving the lives of the more than 30 million Americans living with a rare disease through its annual NORD Rare Impact Awards®.
- [NORD Rare Cancer Advocates Gather on Capitol Hill to Recognize Rare Cancer Day](https://rarediseases.org/rare-cancer-day-2026/): “Rare Cancer Day is a day to recognize a community of patients and families who are too often overlooked while acknowledging their unique challenges and needs. And it is a day to commit to action. I remember how isolated, devastated and terrified we felt when we learned that my 38-year-old husband Paul’s cancer was rare and had no treatment options. Rare Cancer Day did not exist then, there was not a community for us to turn to, and dollars were not being spent to discover treatments for a cancer like his. The discoveries made through grants supported by the Department of Defense CDMRP Rare Cancer Program are directly impacting patients today, giving time to families that we never had.  We have come so far since then and cannot let that momentum slow down, even for a moment,” said Kristen Palma of Cambridge, Mass.
- [Choosing Hope Without Certainty: Sarah’s Rare Cancer Story](https://rarediseases.org/choosing-hope-without-certainty-sarahs-rare-cancer-story/): NORD is proud to share this rare cancer patient story in recognition of Rare Cancer Day. Learn more about Rare Cancer Day.
- [NORD and Rosenau Family Research Foundation Launch Rare Research Launchpad to Introduce Students to Careers in Rare Disease Research](https://rarediseases.org/rare-research-launchpad/): NORWELL, Mass., Sept. 15, 2026 — The National Organization for Rare Disorders (NORD®) and the Rosenau Family Research Foundation today launched "Rare Research Launchpad: A Career Exploration Series in Rare Disease Research," a free, self-paced online series designed to introduce students and early-career scientists to rare disease research and career opportunities available in the field.
- [NORD CEO Welcomes FDA Leadership Appointments, Emphasizes Stability and Innovation for Rare Diseases](https://rarediseases.org/nord-ceo-statement-on-four-new-senior-fda-appointments/): On September 8, the U.S. Department of Health and Human Services announced the selection of four new senior leaders at the U.S. Food and Drug Administration (FDA), three of which are relevant to the rare disease community:
- [Tribute to Senator Kassebaum Baker](https://rarediseases.org/tribute-to-senator-kassebaum-baker/): The National Organization for Rare Disorders (NORD®) mourns the passing of former U.S. Senator Nancy Kassebaum Baker, whose leadership helped change the course of history for people living with rare diseases.
- [Giving a Voice to Vermont’s Rare Disease Community](https://rarediseases.org/giving-a-voice-to-vermonts-rare-disease-community/): Vermont has made history! On May 13, 2026, the Vermont Legislature officially passed H.46, a piece of legislation establishing a Rare Disease Advisory Council (RDAC).
- [NORD Statement in Response to HRSA National Newborn Screening Working Group Announcement](https://rarediseases.org/nord-statement-in-response-to-hrsa-national-newborn-screening-working-group-announcement/): August 13, 2026 — A National Newborn Screening Workgroup was announced by the Health Resources and Services Administration (HRSA) via public website (pending Federal Register publication on August 12, 2026). The Association for Public Health Laboratories (APHL) received an award from HRSA to re-establish a pathway for conditions to be considered and recommended for inclusion on the Recommended Uniform Screening Panel (RUSP), and to discuss nationwide issues impacting newborn screening.
- [NORD Calls for Substantive Changes to Medicaid Work Requirement Rule](https://rarediseases.org/nord-calls-for-substantive-changes-to-medicaid-work-requirement-rule/): NORD Submits Formal Comments to CMS Urging Changes to Align the Final Rule with Congressional Intent and Protect Medically Frail People with Rare Diseases
- [National Organization for Rare Disorders Expands Rare Disease Centers of Excellence Network  ](https://rarediseases.org/national-organization-for-rare-disorders-expands-rare-disease-centers-of-excellence-network/): NORWELL, Mass., July 28, 2026 — The National Organization for Rare Disorders (NORD®) today announced three new additions to its NORD Rare Disease Centers of Excellence (RD CoE) Network, expanding the national Network’s clinical and research expertise across pediatric and adult medicine. With these additions, the Network now includes 49 designated Rare Disease Centers of Excellence members across 28 states and the District of Columbia, with affiliations spanning more than 170 academic medical centers, research institutions, and children’s hospitals nationwide.
- [Laws Shaping Rare Disease Care: TEFRA – Tax Equity and Fiscal Responsibility Act of 1982](https://rarediseases.org/laws-shaping-rare-disease-care-tefra-tax-equity-and-fiscal-responsibility-act-of-1982/): Big title, isn’t it? Most politically ambitious, life-altering laws are. Think of the Tax Equity and Fiscal Responsibility Act of 1982 (TEFRA) as the Costco warehouse of laws. This federal law has everything in it related to saving money for the government, you just have to know where to look. TEFRA was one of the biggest tax increases in U.S. history – and it altered our health care in deeper ways that most do not understand. But in which section of this “Costco” of laws do we look to know what the feds did to our healthcare? Right when you enter – at the beginning, just like in Costco, are the big-ticket items. In the beginning of TEFRA sits the amendments to the most valuable aspect of the U.S. – our health care.
- [How I Learned to Embrace My White Cane: Life with Bardet-Biedl Syndrome](https://rarediseases.org/how-i-learned-to-embrace-my-white-cane-life-with-bardet-biedl-syndrome/): My story began with a fight to survive from the very moment I was born.I was born with severely enlarged kidneys and polydactyly and was not expected to survive. After years of unanswered questions, I was finally diagnosed at age five with Bardet-Biedl Syndrome (BBS), a rare genetic condition that affects multiple systems of the body.
- [Guest Blog: Trusting What I Knew About My Body](https://rarediseases.org/guest-blog-trusting-what-i-knew-about-my-body/): By Kelly, Illinois
- [Skin Cancer Risk in Congenital Ichthyoses: How All of Us Data Supports Real-World Rare Disease Research](https://rarediseases.org/skin-cancer-risk-in-congenital-ichthyoses-how-all-of-us-data-supports-real-world-rare-disease-research/): A study published in the Archives of Dermatological Research demonstrates how a large national population cohort can shed light on rare disease risks that have previously been understudied. Using the National Institutes of Health (NIH) All of Us Research Program database, investigators from Weill Cornell Medicine found that individuals with congenital ichthyosis have higher odds of several skin cancers compared to matched controls, a finding the authors suggest could inform clinical monitoring.
- [Medicaid Work Requirements: NORD Resources, Statements & Implementation Tools](https://rarediseases.org/medicaid-work-requirements/): The Centers for Medicare & Medicaid Services (CMS) has finalized new Medicaid community engagement (work) requirements that states must begin implementing by January 1, 2027.
- [Rare Dad, Rare Hero: Ben Wilson](https://rarediseases.org/rare-dad-rare-hero-ben-wilson/): For Ben Wilson, fatherhood changed when his second son, Gabe, was diagnosed with Bloom syndrome, a rare genetic condition that results in shorter stature, skin rashes, increased susceptibility to infections, and higher risk for multiple types of cancer. Faced with an unfamiliar diagnosis and uncertainty about the future, Ben began learning how to navigate the medical system and advocate for his son’s needs. Today, he assists other families through his leadership with the Bloom Syndrome Association and uses his voice to help ensure that people living with rare diseases are heard, valued, and supported. 
- [Rare Dad, Rare Hero: D. Rolf Hill](https://rarediseases.org/rare-dad-rare-hero-d-rolf-hill/): Ask D. Rolf about being a father, and his pride in his three daughters is immediately clear. Two of his daughters, Sam and Rebecca, live with Friedreich’s ataxia (FA), a progressive, neurodegenerative genetic disorder that affects movement and coordination. Following Sam’s FA diagnosis and later Rebecca’s, the family became closely involved with the FA community and began supporting the Friedreich’s Ataxia Research Alliance (FARA), a NORD Member Organization working to advance research and treatments.
- [National Organization for Rare Disorders Appoints Kathryn Lowell as Executive Vice President, Government Affairs](https://rarediseases.org/nord-appoints-kathryn-lowell-executive-vice-president-government-affairs/): Washington, D.C. — June 9, 2026 — The National Organization for Rare Disorders (NORD®), representing the 30 million Americans living with rare diseases, today announced the appointment of Kathryn Lowell as Executive Vice President (EVP), Government Affairs.In this role, Lowell will lead NORD’s government affairs and policy, working closely with the CEO and as a key member of the executive team, to advance a forward-looking policy agenda that supports innovation, development, and access across the rare disease landscape.
- [NORD Joins Coalition of 48 Patient Advocacy Organizations Expressing Concerns Over Coverage Loss Under Final CMS Medicaid Work Requirement](https://rarediseases.org/nord-joins-coalition-of-48-patient-advocacy-organizations-expressing-concerns-over-coverage-loss-under-final-cms-medicaid-work-requirement/): Washington, D.C. — (June 3, 2026)  Yesterday 48 non-profit, non-partisan patient organizations issued a statement in response to the interim final rule implementing the new Medicaid work reporting requirement provisions in Public Law 119-21.
- [NORD CEO Statement in Response to CMS Rule for Medicaid Community Engagement Requirements](https://rarediseases.org/nord-ceo-statement-in-response-to-cms-medicaid-community-engagement-requirements/): In the meantime, NORD encourages states to reference its May 18, 2026, Medicaid Work Requirements Implementation Guidance, particularly recommendations 3–6, which focus on engaging patients and caregivers in implementation design, broadly interpreting medically frail exemptions where permitted, utilizing available state flexibility, and protecting caregivers throughout the implementation process.
- [How All of Us Data Is Changing Rare Disease Research: Using Wearable Data and Population Cohorts to Study Activity and Sleep in Pulmonary Arterial Hypertension](https://rarediseases.org/how-all-of-us-data-is-changing-rare-disease-research/): When researchers at NORD Rare Disease Center of Excellence Vanderbilt University Medical Center set out to understand how pulmonary arterial hypertension (PAH) affects patients’ daily lives, they turned to the NIH All of Us Research Program.
- [Recap: NORD Living Rare, Living Stronger in Colorado](https://rarediseases.org/recap-nord-living-rare-living-stronger-in-colorado/): For years, the National Organization for Rare Disorders (NORD®) Living Rare, Living Stronger® (LRLS) Patient & Family Forum has convened rare disease patients, families, caregivers, and experts to forge lasting connections. We kicked off our 2026 LRLS programming on May 8 in Phoenix, Arizona, then hit the road to get to Denver, Colorado to host our second forum of the year just one week later on May 15.
- [5 Questions with Nurse and Rare Patient Advocate Jill Pollander](https://rarediseases.org/5-questions-with-nurse-and-rare-patient-advocate-jill-pollander/): In recognition of National Nurses Month and the extraordinary role nurses play in caring for and advocating for patients and families, we spoke with Jill Pollander, RN, MSN, NORD Vice President of Patient Services. Drawing on decades of nursing experience spanning emergency care, palliative care, academia, and patient advocacy, Jill shares insights into the realities individuals with rare diseases face every day and the importance of compassionate, patient-centered support.
- [Access to Answers — Bridging the Gap to Genetic Expertise](https://rarediseases.org/access-to-answers-bridging-the-gap-to-genetic-expertise/): Congress is currently considering the Access to Genetic Counselor Services Act (H.R. 6280/S. 3607), a bipartisan piece of legislation that would recognize genetic counselors as Medicare providers, allowing them to be reimbursed under Medicare Part B. Passing this Act will allow genetic counselor services to be reimbursed by insurance similarly to other health care professionals, like nurse practitioners and physician assistants. Without reimbursement, many hospital departments and practices cannot afford to hire genetic counselors, thus limiting access. Right now, genetic counselors are not recognized as Medicare providers, restricting Medicare beneficiaries' access to genetic counselor services.
- [Recap: NORD Living Rare, Living Stronger in Arizona](https://rarediseases.org/recap-nord-living-rare-living-stronger-in-arizona/): Our second panel, “Tips for Accessing the Resources and Services You Need” was an area of need identified by our local planning committee that helped design this event. The panel was comprised of genetic counselors and a mental health professional serving the Arizona rare disease community, and a rare caregiver. Panelists provided information on practical resources ways that Arizonians can locate services and support available in their community and online.
- [Vermont Governor Signs Rare Disease Advisory Council into Law](https://rarediseases.org/vermont-governor-signs-rare-disease-advisory-council-into-law/): H.46 makes Vermont the 34th state in the nation – including all states in New England – to give rare disease patients a formal voice in state government.
- [Guest Blog: Uniting for Behçet’s Disease Awareness on May 20](https://rarediseases.org/guest-blog-uniting-for-behcets-disease-awareness/): By Ashley Pelletier, Executive Director of the American Behcet’s Disease Association (ABDA)
- [NORD Statement on FDA Leadership Change](https://rarediseases.org/nord-statement-on-fda-leadership-change/): The National Organization for Rare Disorders (NORD) recognizes that the departure of the FDA Commissioner is a pivotal moment for the Agency and the patients it serves. At this time of extraordinary scientific advancement, particularly in rare diseases, NORD appreciates the Administration’s continued focus on orphan products. Now is the time to keep up the momentum on key policy priorities, including those reflected in the President’s budget, such as the Priority Review Voucher (PRV) program, which plays a critical role in incentivizing rare disease innovation.
- [Moms on a Mission: Rebecca Bialas, MD](https://rarediseases.org/moms-on-a-mission-rebecca-bialas-md/): This month, NORD is proud to spotlight a few incredible “Moms on a Mission” across our community, because if there’s one thing we know, it’s that there’s a lot we can learn from other moms.
- [2026 Rare Disease Scientific Symposium: Event Recap and Recordings](https://rarediseases.org/2026-rare-disease-scientific-symposium-event-recap-and-recordings/): To access recordings of every keynote and panel from the 2026 NORD Symposium, visit nordscience.org.
- [NORD Advances Policy Leadership with Strategic Appointments to Strengthen Rare Disease Advocacy](https://rarediseases.org/nord-advances-policy-leadership-with-strategic-appointments-to-strengthen-rare-disease-advocacy/): Michael Beard brings more than 20 years of experience across Congress, the Department of Health and Human Services (HHS), and the United Nations Foundation. He has led bipartisan policy efforts, coordinated global health strategies across agencies, including the U.S. Food and Drug Administration (FDA), the National Institutes of Health (NIH), and the Centers for Disease Control and Prevention (CDC), and advanced initiatives that have improved health outcomes worldwide. In his role, he will lead NORD’s federal and global policy strategy, strengthening engagement with policymakers and partners to advance priorities for patients, families, and the organizations that represent them.
- [National Organization for Rare Disorders and OpenEvidence Partner to Bring AI-Powered Rare Disease Resources to Clinicians and Patients Worldwide](https://rarediseases.org/national-organization-for-rare-disorders-and-openevidence-partner-to-bring-ai-powered-rare-disease-resources-to-clinicians-and-patients-worldwide/): The rare disease pages are integrated directly into the OpenEvidence platform, where they surface automatically when clinically relevant and synthesize the latest research into a clear, practical format for clinicians. Patient-friendly versions will be disseminated through NORD Rare Disease Database to help reach patients, caregivers and families worldwide. By combining advanced AI capabilities with human expert review, the collaboration is intended to increase both scale and quality: more conditions covered, more frequently updated, and more accessible to the clinicians and families navigating rare disease every day.
- [NORD CEO Statement on FDA Draft Guidance for the Plausible Mechanism Framework for Individualized Genetic Therapies](https://rarediseases.org/fda-plausible-mechanism-framework/): NORD is encouraged by efforts to strengthen and clarify regulatory tools that advance rare disease treatments. For conditions with extremely small patient populations, where traditional clinical trials are difficult to conduct, regulatory flexibility is essential. This draft guidance works within FDA’s existing authorities to support innovation for those with specific genetic conditions, where there are frequently significant unmet needs.
- [More Than 30 Million Americans Living with Rare Diseases](https://rarediseases.org/rare-disease-day-2026/): As the official U.S. sponsor of Rare Disease Day®, led internationally by EURORDIS-Rare Diseases Europe, NORD is mobilizing communities nationwide on February 28 to “Show Your Stripes.”  The campaign is designed to raise awareness and funds, improve diagnosis, accelerate research for new treatments, and stand in solidarity with the estimated 1 in 10 Americans living with one or more rare diseases. 
- [Earn Your Stripes: NORD Launches Rare Disease Day® CME Challenge to Close Critical Gaps in Rare Disease Education](https://rarediseases.org/earn-your-stripes-nord-launches-rare-disease-day-cme-challenge-to-close-critical-gaps-in-rare-disease-education/): BOSTON and NORWELL, Mass., FEB 23, 2026 - In recognition of Rare Disease Day, the National Organization for Rare Disorders (NORD®) today announced the launch of the Earn Your Stripes: Rare Disease CME Challenge, a nationwide educational initiative designed to increase healthcare professional participation in continuing medical education (CME) for rare conditions. 
- [National Organization for Rare Disorders Ranks All 50 States on Rare Disease Policies](https://rarediseases.org/national-organization-for-rare-disorders-ranks-all-50-states-on-rare-disease-policies/): WASHINGTON, D.C., Feb. 9, 2026 — Access to care for Americans living with rare diseases still depends heavily on where they live, according to the National Organization for Rare Disorders (NORD®), which today released its 2025 State Report Card grading all 50 states and Washington, D.C. on policies affecting more than 30 million Americans, half of whom are children. 
- [NIH Director Dr. Jay Bhattacharya to Headline Second Annual NORD Rare Disease Scientific Symposium Focused on Accelerating Innovation](https://rarediseases.org/nih-director-bhattacharya-to-headline-second-nord-rare-disease-scientific-symposium/): Leaders across research, clinical care, industry, and patient advocacy convene to accelerate rare disease breakthroughs from discovery to real-world patient impact
- [Advancing Rare Disease Research with General Population Cohorts](https://rarediseases.org/advancing-rare-disease-research-with-general-population-cohorts/): A recent genomic analysis published in PLOS Genetics illustrates how large, diverse population cohorts can generate rare disease insights that are often difficult to obtain through disease-specific registries alone. Drawing on genomic data from more than 13,000 New York City participants enrolled in the National Institute of Health’s All of Us Research Program (All of Us), the study shows how population-scale resources can be used to identify pathogenic variants, founder populations, and ancestry-specific genetic risks that remain poorly documented in many communities.
- [NORD Extends Exclusive CME Partnership with Medlive](https://rarediseases.org/nord-extends-exclusive-cme-partnership-with-medlive/): BOSTON AND WASHINGTON, D.C., January 6, 2026 – Medlive and the National Organization for Rare Disorders® are proud to announce that NORD has again selected the company as its official Continuing Medical Education (CME) partner. This renewed commitment reflects the organizations’ shared mission to expand access to rare disease education, equip clinicians with the tools to shorten time to diagnosis and improve treatment, and empower patients and caregivers to engage more fully in their own care.
- [Statement from Pamela Gavin, CEO, National Organization for Rare Disorders (NORD) on the Senate Failure to Approve the Give Kids a Chance Act By Year-End](https://rarediseases.org/statement-from-pamela-gavin-ceo-national-organization-for-rare-disorders-nord-on-the-senate-failure-to-approve-the-give-kids-a-chance-act-by-year-end/): The Senate’s failure to advance the Give Kids a Chance Act through unanimous consent is deeply disappointing. 
- [NORD CEO Statement on the Addition of Metachromatic Leukodystrophy (MLD) and Duchenne Muscular Dystrophy (DMD) to the Recommended Uniform Screening Panel](https://rarediseases.org/nord-ceo-statement-on-the-addition-of-metachromatic-leukodystrophy-mld-and-duchenne-muscular-dystrophy-dmd-to-the-recommended-uniform-screening-panel/): The National Organization for Rare Disorders (NORD) applauds the Department of Health and Human Services (HHS) for adding metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP). MLD and DMD are both serious rare conditions that have taken the lives of too many children and young adults.  
- [Public Affairs and Patient Advocacy Leader Kim Isenberg Joins National Organization for Rare Disorders Board of Directors](https://rarediseases.org/kim-isenberg-joins-board-of-directors/): NORWELL, Mass., Dec. 8, 2025 -- The National Organization for Rare Disorders (NORD®), a leading rare disease patient advocacy organization, today announced the appointment of Kim Isenberg, a retired industry veteran with more than three decades of public affairs and patient advocacy experience, to its Board of Directors.
- [America’s Rare Children Need Congress to Act: NORD Urges Swift Reauthorization of Proven Rare Pediatric Disease Voucher Program](https://rarediseases.org/nord-urges-swift-reauthorization-of-proven-rare-pediatric-disease-voucher-program/): WASHINGTON, Dec. 4, 2025 — The National Organization for Rare Disorders (NORD®) today urged Congress to reauthorize the Rare Pediatric Disease Priority Review Voucher (RPD PRV) program by year-end, warning that continued delay threatens the future of innovation for children with rare diseases.
- [National Organization for Rare Disorders Adds Seven Rare Disease Centers of Excellence Nationwide](https://rarediseases.org/national-organization-for-rare-disorders-adds-seven-rare-disease-centers-of-excellence-nationwide/): •  NYU Langone Health – NORD Rare Disease Center of Excellence (New York) 
- [Guest Blog: How Collaboration Drives Early Diagnosis and Better Outcomes During Infantile Spasms Awareness Week](https://rarediseases.org/guest-blog-infantile-spasms-awareness-week/): In this NORD Guest Blog, two NORD Member patient organizations, TSC Alliance & Dup15q Alliance, discuss the importance of infantile spasms awareness, the symptoms to look out for, and how their organizations and 40 others successfully partnered to form the Infantile Spasms Action Network (ISAN).
- [NORD Launches New RFP for Patient Registries](https://rarediseases.org/rdca-dap-rfp-2026/): Implementation of two new patient registries on the IAMRARE® platform funded by RDCA-DAP®
- [Living Rare, Living Stronger: A Day of Connection, Courage, and Community in Milwaukee](https://rarediseases.org/living-rare-living-stronger-milwaukee/): For one powerful day in Milwaukee, more than 110 people impacted by rare diseases — patients, caregivers, families, clinicians, and advocates — came together to share something simple yet profound: understanding.
- [Congress: Reauthorize the Rare Pediatric Disease Priority Review Voucher Program](https://rarediseases.org/rare-pediatric-disease-prv-program/): The National Organization for Rare Disorders (NORD) released a new report showing the undeniable effectiveness of the Rare Pediatric Disease Priority Review Voucher (RPD PRV) program, designed to incentivize the development of therapies for hard-to-study pediatric rare diseases. The RPD PRV has spurred the development of more than 60 safe and effective treatment options for rare pediatric diseases in the first 13 years of the program.
- [Recognizing National Nurse Practitioner Week 2025 – Roshani’s Story](https://rarediseases.org/national-nurse-practitioner-week-2025/): By Roshani Kandel, DNP, ARNP, FNP-C, MPH
- [Media Advisory: Rare Disease “Zebra” Families Gathering at the Milwaukee County Zoo](https://rarediseases.org/media-advisory-rare-disease-zebra-families-gathering-at-the-milwaukee-county-zoo/): National Organization for Rare Disorders (NORD®) Brings Together 100+ Wis. Families for a Day of Hope, Learning, and Community During National Family Caregivers Month

## Pages
- [Patient Assistance Programs](https://rarediseases.org/patient-assistance-programs/)
- [Custom Plugins Test](https://rarediseases.org/get-involved/custom-plugins-test/)
- [Test SF Gravity Forms](https://rarediseases.org/test-sf-gravity-forms/)
- [A PCP Primer to Diagnosing Rare Disease in Children](https://rarediseases.org/pediatric-rare-diagnosis-for-medical-professionals/)
- [Pediatric Rare Dx: A Parent’s Guide to a Rare Disease Diagnosis in Children](https://rarediseases.org/pediatric-rare-diagnosis-for-caregivers/)
- [All of Us Study](https://rarediseases.org/all-of-us-study/)
- [Video Library](https://rarediseases.org/understanding-rare-disease/rare-disease-video-library/)
- [RSVP for NORD’s Rare Cancer Day Reception](https://rarediseases.org/nord-rare-cancer-day-reception/)
- [Your Organization’s Information for NORD’s Organizational Database](https://rarediseases.org/membership/org-info/)
- [Request a Telehealth Resource](https://rarediseases.org/telemedicine-resources/request-resource/)
- [Submit a Telehealth Resource](https://rarediseases.org/telemedicine-resources/submit/)
- [Rare Disease Day – Become a Sponsor](https://rarediseases.org/rare-disease-day/become-a-sponsor/)
- [Light Up for Rare Location Map](https://rarediseases.org/rare-disease-day/light-up-a-monument/monument-map/)
- [aPAP EL-PFDD Meeting Registration](https://rarediseases.org/apap-el-pfdd-meeting-registration/)
- [Atypical Hemolytic Uremic Syndrome (aHUS)](https://rarediseases.org/patient-assistance-programs-old/atypical-hemolytic-uremic-syndrome-ahus/)
- [Lambert-Eaton Myasthenic Syndrome (LEMS)](https://rarediseases.org/patient-assistance-programs-old/lambert-eaton-myasthenic-syndrome-lems/)
- [Fabry Disease](https://rarediseases.org/patient-assistance-programs-old/fabry-disease/)
- [Batten Disease](https://rarediseases.org/patient-assistance-programs-old/batten-disease/)
- [NORD Rare Cancer Coalition Summit Reception Registration 2024](https://rarediseases.org/rcc-summit-registration/)
- [Gifts of Stock or Appreciated Assets](https://rarediseases.org/donate-stock/)
- [CME Videos](https://rarediseases.org/living-with-a-rare-disease/continuing-medical-education-cme/cme-videos/)
- [Telemedicine Resources – For Medical Professionals](https://rarediseases.org/telemedicine-resources/medical-professional/)
- [Telemedicine Resources – For Patients](https://rarediseases.org/telemedicine-resources/patients/)
- [Terms & Conditions](https://rarediseases.org/terms-conditions/)
- [Rare Disease Day 2024 – Successful Event Submission](https://rarediseases.org/rare-disease-day/share-an-event/submission-successful/)
- [Rare Disease Day Blog & Stories](https://rarediseases.org/rare-disease-day/newsroom/blog/)
- [Rare Disease Day 2024 – Contact NORD](https://rarediseases.org/rare-disease-day/rdd-contact/)
- [Share Your Story](https://rarediseases.org/rare-disease-day/get-involved/rdd-share-your-story/)

## MONDO Diseases
- [autoinflammation, immune dysregulation, and eosinophilia](https://rarediseases.org/mondo-disease/autoinflammation-immune-dysregulation-and-eosinophilia/)
- [pediatric acute-onset neuropsychiatric syndrome (PANS)](https://rarediseases.org/mondo-disease/pediatric-acute-onset-neuropsychiatric-syndrome/)
- [neurodevelopmental disorder with severe motor impairment and absent language](https://rarediseases.org/mondo-disease/neurodevelopmental-disorder-with-severe-motor-impairment-and-absent-language/)
- [May-Thurner syndrome](https://rarediseases.org/mondo-disease/may-turner-syndrome/)
- [AGAT deficiency](https://rarediseases.org/mondo-disease/agat-deficiency/)
- [THG1L-related disorder](https://rarediseases.org/mondo-disease/thg1l-related-disorder/)
- [Chopra-Amiel-Gordon Syndrome](https://rarediseases.org/mondo-disease/chopra-amiel-gordon-syndrome/)
- [Poirier-Bienvenu neurodevelopmental syndrome](https://rarediseases.org/mondo-disease/poirier-bienvenu-neurodevelopmental-syndrome/)
- [spastic paraplegia 86, autosomal recessive](https://rarediseases.org/mondo-disease/spastic-paraplegia-86-autosomal-recessive/)
- [neurodevelopmental disorder with epilepsy and brain atrophy](https://rarediseases.org/mondo-disease/neurodevelopmental-disorder-with-epilepsy-and-brain-atrophy/)
- [DDX17-related neurodevelopmental disorder](https://rarediseases.org/mondo-disease/ddx17-related-neurodevelopmental-disorder/)
- [hemangiopericytoma](https://rarediseases.org/mondo-disease/hemangiopericytoma/)
- [solitary fibrous tumor/hemangiopericytoma](https://rarediseases.org/mondo-disease/solitary-fibrous-tumor-hemangiopericytoma/)
- [pancreatic insulinoma](https://rarediseases.org/mondo-disease/pancreatic-insulinoma/)
- [neurodevelopmental disorder with cerebellar atrophy and motor dysfunction](https://rarediseases.org/mondo-disease/neurodevelopmental-disorder-with-cerebellar-atrophy-and-motor-dysfunction/)
- [Primary hypophysitis](https://rarediseases.org/mondo-disease/primary-hypophysitis/)
- [Primary hypopjysitis](https://rarediseases.org/mondo-disease/primary-hypopjysitis/)
- [Neuronal ceroid lipofuscinosis](https://rarediseases.org/mondo-disease/neuronal-ceroid-lipofuscinosis/)
- [generalized epilepsy with febrile seizures plus, type 2](https://rarediseases.org/mondo-disease/generalized-epilepsy-with-febrile-seizures-plus-type-2/)
- [Post-selective serotonin reuptake inhibitor sexual dysfunction](https://rarediseases.org/mondo-disease/post-selective-serotonin-reuptake-inhibitor-sexual-dysfunction/)
- [CASK-related disorders](https://rarediseases.org/mondo-disease/282242/)
- [Long QT syndrome 8](https://rarediseases.org/mondo-disease/long-qt-syndrome-8/)
- [CACNA1C-Related Disorders](https://rarediseases.org/mondo-disease/cacna1c-related-disorders/)
- [Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures](https://rarediseases.org/mondo-disease/neurodevelopmental-disorder-with-hypotonia-language-delay-and-skeletal-defects-with-or-without-seizures/)
- [DEAF1-associated neurodevelopmental disorder](https://rarediseases.org/mondo-disease/deaf1-associated-neurodevelopmental-disorder/)
- [intellectual disability, autosomal dominant 24](https://rarediseases.org/mondo-disease/intellectual-disability-autosomal-dominant-24/)
- [organophosphate-induced delayed polyneuropathy](https://rarediseases.org/mondo-disease/organophosphate-induced-delayed-polyneuropathy/)
- [FG syndrome 4](https://rarediseases.org/mondo-disease/fg-syndrome-4/)
- [Childhood-onset ataxia, intention tremor, and hypotonia syndrome](https://rarediseases.org/mondo-disease/childhood-onset-ataxia-intention-tremor-and-hypotonia-syndrome/)
- [sleep-related hypermotor epilepsy](https://rarediseases.org/mondo-disease/sleep-related-hypermotor-epilepsy/)
- [Snijders Blok-Fisher syndrome](https://rarediseases.org/mondo-disease/snijders-blok-fisher-syndrome/)
- [neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures](https://rarediseases.org/mondo-disease/neurodegeneration-childhood-onset-stress-induced-with-variable-ataxia-and-seizures/)
- [generalized epilepsy with febrile seizures plus, type 12](https://rarediseases.org/mondo-disease/generalized-epilepsy-with-febrile-seizures-plus-type-12/)
- [progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2](https://rarediseases.org/mondo-disease/progressive-external-ophthalmoplegia-with-mitochondrial-dna-deletions-autosomal-recessive-2/)
- [DICER1 tumor-predisposition syndrome](https://rarediseases.org/mondo-disease/dicer1-tumor-predisposition-syndrome/)
- [myoglobinuria, acute recurrent, autosomal recessive](https://rarediseases.org/mondo-disease/myoglobinuria-acute-recurrent-autosomal-recessive/)
- [Developmental delay-facial dysmorphism syndrome due to MED13L deficiency](https://rarediseases.org/mondo-disease/developmental-delay-facial-dysmorphism-syndrome-due-to-med13l-deficiency/)
- [developmental delay with variable intellectual impairment and behavioral abnormalities](https://rarediseases.org/mondo-disease/developmental-delay-with-variable-intellectual-impairment-and-behavioral-abnormalities/)
- [Developmental and epileptic encephalopathy 114](https://rarediseases.org/mondo-disease/developmental-and-epileptic-encephalopathy-114/)
- [Partington syndrome](https://rarediseases.org/mondo-disease/partington-syndrome/)
- [ReNU syndrome](https://rarediseases.org/mondo-disease/renu-syndrome/)
- [aplasia cutis congenita with ectrodactyly skeletal syndrome (ACCES syndrome)](https://rarediseases.org/mondo-disease/aplasia-cutis-congenita-with-ectrodactyly-skeletal-syndrome-acces-syndrome/)
- [developmental delay with variable intellectual disability and dysmorphic facies](https://rarediseases.org/mondo-disease/developmental-delay-with-variable-intellectual-disability-and-dysmorphic-facies-2/)
- [Intellectual developmental disorder with autism and speech delay](https://rarediseases.org/mondo-disease/intellectual-developmental-disorder-with-autism-and-speech-delay/)
- [Nathalie syndrome](https://rarediseases.org/mondo-disease/nathalie-syndrome/)
- [Loin pain hematuria syndrome](https://rarediseases.org/mondo-disease/loin-pain-hematuria-syndrome-2/)
- [Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements](https://rarediseases.org/mondo-disease/neurodevelopmental-disorder-with-hypotonia-and-autistic-features-with-or-without-hyperkinetic-movements/)
- [Generalized epilepsy with febrile seizures plus, type 9](https://rarediseases.org/mondo-disease/generalized-epilepsy-with-febrile-seizures-plus-type-9/)
- [Developmental delay with variable intellectual disability and dysmorphic facies](https://rarediseases.org/mondo-disease/developmental-delay-with-variable-intellectual-disability-and-dysmorphic-facies/)
- [Intellectual developmental disorder with speech delay, autism, and dysmorphic facies](https://rarediseases.org/mondo-disease/intellectual-developmental-disorder-with-speech-delay-autism-and-dysmorphic-facies/)

## Rare Diseases
- [Primary Mitochondrial Disorders](https://rarediseases.org/rare-diseases/primary-mitochondrial-disorders/)
- [Megalencephalic Leukoencephalopathy with Subcortical Cysts](https://rarediseases.org/rare-diseases/megalencephalic-leukoencephalopathy-with-subcortical-cysts/)
- [Dyskeratosis congenita and related telomere biology disorders](https://rarediseases.org/rare-diseases/dyskeratosis-congenita-and-related-telomere-biology-disorders/)
- [Achromatopsia](https://rarediseases.org/rare-diseases/achromatopsia/)
- [VLDLR cerebellar hypoplasia (VLDLR-CH)](https://rarediseases.org/rare-diseases/vldlr-cerebellar-hypoplasia-vldlr-ch/)
- [Chronic primary adrenal insufficiency](https://rarediseases.org/rare-diseases/chronic-primary-adrenal-insufficiency/)
- [Autoimmune Pulmonary Alveolar Proteinosis](https://rarediseases.org/rare-diseases/autoimmune-pulmonary-alveolar-proteinosis/)
- [Obesity due to Melanocortin 4 Receptor Deficiency](https://rarediseases.org/rare-diseases/obesity-due-to-melanocortin-4-receptor-deficiency/)
- [Cold-Induced Sweating Syndrome (CISS)](https://rarediseases.org/rare-diseases/cold-induced-sweating-syndrome-ciss/)
- [Fetal Carbamazepine Syndrome](https://rarediseases.org/rare-diseases/fetal-carbamazepine-syndrome/)
- [ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction](https://rarediseases.org/rare-diseases/abca3-related-pulmonary-surfactant-metabolism-dysfunction/)
- [GRIN-related Disorders](https://rarediseases.org/rare-diseases/grin-related-disorders/)
- [Pulmonary Interstitial Glycogenosis](https://rarediseases.org/rare-diseases/pulmonary-interstitial-glycogenosis/)
- [Acquired Hemophilia B](https://rarediseases.org/rare-diseases/acquired-hemophilia-b/)
- [MECR‑Related Neurologic Disorder](https://rarediseases.org/rare-diseases/mecr%e2%80%91related-neurologic-disorder/)
- [Ankylosing Spondylitis](https://rarediseases.org/rare-diseases/ankylosing-spondylitis/)
- [Stress-Induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures (CONDSIAS)](https://rarediseases.org/rare-diseases/stress-induced-childhood-onset-neurodegeneration-with-variable-ataxia-and-seizures-condsias/)
- [Traboulsi Syndrome](https://rarediseases.org/rare-diseases/traboulsi-syndrome/)
- [Hypereosinophilic Syndrome](https://rarediseases.org/rare-diseases/hypereosinophilic-syndrome/)
- [Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome (PEBAT)](https://rarediseases.org/rare-diseases/early-onset-progressive-diffuse-brain-atrophy-microcephaly-muscle-weakness-optic-atrophy-syndrome-pebat/)
- [MIRAGE Syndrome](https://rarediseases.org/rare-diseases/mirage-syndrome/)
- [ACCES Syndrome](https://rarediseases.org/rare-diseases/acces-syndrome/)
- [Nonsyndromic Heritable Thoracic Aortic Disease](https://rarediseases.org/rare-diseases/nonsyndromic-heritable-thoracic-aortic-disease/)
- [Huppke-Brendel Syndrome](https://rarediseases.org/rare-diseases/huppke-brendel-syndrome/)
- [Diffuse Intrinsic Pontine Glioma](https://rarediseases.org/rare-diseases/diffuse-intrinsic-pontine-glioma/)
- [Deafness-Dystonia-Optic Neuronopathy Syndrome](https://rarediseases.org/rare-diseases/deafness-dystonia-optic-neuronopathy-syndrome/)
- [CHCHD10-Related Disorders](https://rarediseases.org/rare-diseases/chchd10-related-disorders/)
- [Empty Nose Syndrome](https://rarediseases.org/rare-diseases/empty-nose-syndrome/)
- [CLTC-Related Intellectual Disability](https://rarediseases.org/rare-diseases/cltc-related-intellectual-disability/)
- [High Myopia-Sensorineural Deafness Syndrome](https://rarediseases.org/rare-diseases/high-myopia-sensorineural-deafness-syndrome/)
- [Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia](https://rarediseases.org/rare-diseases/congenital-deafness-with-labyrinthine-aplasia-microtia-and-microdontia/)
- [SNAP25 Developmental and Epileptic Encephalopathy (SNAP25-DEE)](https://rarediseases.org/rare-diseases/snap25-developmental-and-epileptic-encephalopathy-snap25-dee/)
- [Capillary Malformation-Arteriovenous Malformation Syndrome](https://rarediseases.org/rare-diseases/capillary-malformation-arteriovenous-malformation-syndrome/)
- [Juvenile Polyposis Syndrome](https://rarediseases.org/rare-diseases/juvenile-polyposis-syndrome/)
- [KDM5C-Related Neurodevelopmental Disorder](https://rarediseases.org/rare-diseases/kdm5c-related-neurodevelopmental-disorder/)
- [Marin-Amat Syndrome](https://rarediseases.org/rare-diseases/marin-amat-syndrome/)
- [Livedoid Vasculopathy](https://rarediseases.org/rare-diseases/livedoid-vasculopathy/)
- [GJB2-Related Conditions](https://rarediseases.org/rare-diseases/gjb2-related-conditions/)
- [Aspartylglucosaminuria](https://rarediseases.org/rare-diseases/aspartylglucosaminuria/)
- [Neuroblastoma](https://rarediseases.org/rare-diseases/neuroblastoma/)
- [Marbach-Schaaf Neurodevelopmental Syndrome](https://rarediseases.org/rare-diseases/marbach-schaaf-neurodevelopmental-syndrome/)
- [Congenital Megaprepuce](https://rarediseases.org/rare-diseases/congenital-megaprepuce/)
- [Au-Kline Syndrome](https://rarediseases.org/rare-diseases/au-kline-syndrome/)
- [Geleophysic Dysplasia](https://rarediseases.org/rare-diseases/geleophysic-dysplasia/)
- [PRDM12-Related Congenital Insensitivity to Pain](https://rarediseases.org/rare-diseases/prdm12-related-congenital-insensitivity-to-pain/)
- [POLR2A-Related Disorder](https://rarediseases.org/rare-diseases/polr2a-related-disorder/)
- [Dynactin Subunit 1 (DCTN1)-Related Neurodegeneration](https://rarediseases.org/rare-diseases/dynactin-subunit-1-dctn1-related-neurodegeneration/)
- [Kinesin Family Member 5A (KIF5A)-Related Disorder](https://rarediseases.org/rare-diseases/kinesin-family-member-5a-kif5a-related-disorder/)
- [Alanyl-Transfer RNA (tRNA) Synthetase 2 (AARS2)-Related Disorder (AARS2-RD)](https://rarediseases.org/rare-diseases/alanyl-transfer-rna-trna-synthetase-2-aars2-related-disorder-aars2-rd/)
- [Female Adnexal Tumor of Probable Wolffian Origin](https://rarediseases.org/rare-diseases/female-adnexal-tumor-of-probable-wolffian-origin/)