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Register for the 2023 NORD Breakthrough Summit!
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Registration is now open for NORD's
Rare Diseases and Orphan Products Breakthrough Summit! On October 16-17 at the Marriott
Marquis in Washington, DC, join hundreds of rare disease advocates, experts, and stakeholders from around the world to tackle the most pressing issues facing the rare disease community. This year's agenda features topics including the future of gene editing, the impact of the Inflation Reduction Act, harnessing the power of AI for diagnosis, diversity and equity in rare diseases, and so much more. View the agenda here.
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| Run with NORD at the Marine Corps Marathon!
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There are still spots left to join the NORD Running for Rare® team at the Marine Corps runs in Arlington, VA! The Marine Corps Marathon is on October 29, 2023, and is a great marathon for beginners. There is also a one-mile Marine Corps Marathon Kid's Run taking place on October 28, 2023! Register to join the Running for Rare® team with NORD here.
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The National Institutes of Health (NIH) is conducting an extensive national search to fill the position of Deputy Director, National Center for Advancing Translational Sciences (NCATS).
The NCATS Deputy Director will have a unique opportunity to work closely with the NCATS Director to provide leadership in catalyzing the creation, demonstration, and dissemination of innovative methods and technologies that enhance the development, testing, and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. NCATS is composed of over 670 Federal staff and contractors, with an annual budget of $923M. The appointed individual will work closely with the Director in leading two critical translational science programs managed by NCATS: the Clinical Translational Science Awards and the Rare Diseases Clinical Research Network.
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Delaware Signs Rare Disease Advisory Council (RDAC) Legislation Into Law
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Delaware has joined the growing list of states (now 27 total) to establish Rare Disease Advisory Councils (RDAC). Delaware Governor John Carney signed RDAC legislation (SB55/Poore) into law on July 26, 2023. NORD staff and advocates were present at the bill signing in Delaware. We commend the hard work of rare disease advocates in Delaware who made this possible! Learn more here.
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Accelerating Kids’ Access to Care Act Introduced in Congress
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NORD and our members and allies advocated tirelessly for the Accelerating Kids' Access to Care Act on behalf of the millions of children and families living with rare diseases, and we will continue
to do so until it is signed into law. Read a statement from NORD President Peter L. Saltonstall alongside statements from the bill’s cosponsors here. And read NORD’s detailed letter of support for the legislation here. This legislation has been introduced in Congress by Representative Lori Trahan, Representative Marionette Miller-Meeks, Senator Michael Bennet and Senator Chuck Grassley. Half of the 30 million Americans with rare diseases are children, and many rely on Medicaid programs
for health insurance. They often require care from out-of-state medical experts, and the associated red tape is overwhelming. This bipartisan legislation will make it easier for them to access out-of-state care, removing major bureaucratic barriers.
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Roctavian, a one-time gene therapy, has been approved for the treatment of adults with severe hemophilia A. Also known as classical hemophilia, hemophilia A is a
bleeding disorder caused by insufficient levels of the clotting factor VIII. Roctavian is manufactured by BioMarin Pharmaceutical Inc. Read the press release.
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New and Updated Rare Disease Reports
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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
Twenty-four reports have been updated and new reports on TANC2-Related Disorders, PRRT2-Associated Paroxysmal Movement Disorders, Wiedemann-Steiner Syndrome and Epilepsy with Eyelid Myoclonia have been added to the Rare Disease Database.
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The Global Paroxysmal Nocturnal Hemoglobinuria (PNH) Patient Registry
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Every patient’s story and experience are a unique, invaluable part of a disease’s natural history. It is crucial for paroxysmal nocturnal hemoglobinuria (PNH) to join the Global PNH Patient Registry to help researchers characterize and describe the global PNH population as a whole. Join now and let your data tell your story.
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| Hallermann-Streiff Syndrome (HSS)
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The Center for Mendelian Genomics at Baylor College of Medicine is seeking families with Hallermann-Streiff Syndrome (HSS) to participate in a study to understand the underlying genetic explanation for this rare disorder. There is no cost to families that participate. For more information, contact Dr. Richard Alan Lewis at (713) 798-3030 or rlewis@bcm.edu.
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Hallermann-Streiff syndrome was named for two eye doctors who independently reported cases of the syndrome. Principal features include abnormalities of the skull and certain bones of the face, ocular defects, dental anomalies,
hair and skin changes, and/or proportionate short stature.
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Boston Children’s Hospital, a NORD® Rare Disease Center of Excellence, and Redenlab are conducting a study to explore speech and language patterns in individuals with Kabuki syndrome. Speech tasks will be provided and recorded through a unique weblink on your computer and typically take no longer than 30 minutes. For more information and instructions about participating, contact Leen Khalife, MD or Olaf Bodamer, MD, PhD at 857-218-5253 or email Kabuki@childrens.harvard.edu.
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Kabuki syndrome was first reported in Japan and was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, a form of Japanese theater. This multisystem disorder is caused by mutations in one of two genes, KMT2D and KDM6A, both of which can be screened by genetic testing.
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Boston Children’s Hospital is also conducting a study to better understand causes of death in Kabuki syndrome. Participation will include review of your child’s past medical record and a 60-minute interview through Zoom or phone call. For more information, contact Leen
Khalife, MD at 857-218-5253 or email Kabuki@childrens.harvard.edu.
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| Lysosomal Storage Diseases (LSDs)
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The University of California, San Francisco is collaborating with Duke University, both NORD® Rare Disease Centers of Excellence, on a study to determine maternal and fetal safety and the feasibility of prenatal enzyme replacement therapy in fetuses with lysosomal storage diseases (LSDs). Learn more.
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There are nearly 50 lysosomal storage diseases (LSDs), inherited metabolic diseases characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme
deficiencies. New LSDs continue to be identified, affecting the skeleton, brain, skin, heart, and central nervous system.
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Rare Diseases Cures Accelerator -
Data & Analytics Platform News
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See How RDCA-DAP Can Support Your Work
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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.
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Upcoming Webinar - Patients and Caregivers
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Register now for the next webinar in the 2023 RDCA-DAP Webinar Series, “Teaching Patients and Caregivers: The Role of Education in Research and Data Sharing" on Thursday, August 10 at 12pm ET. Attendees will leave with an understanding of:
- The basic adult learning theories and approaches to create content and presentations that appeal to the largest audience of adult learners
- The role of foundational education in recruiting patients and caregivers to participate in research and data sharing
- Methods of sharing educational materials with patients and caregivers
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Webinar On-Demand - Global Unique Identifiers
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View the “GUIDs and De-Identification Tools” webinar on demand now. This webinar discussed the need for rare diseases communities to adopt common GUIDs (Global Unique Identifiers) for patients, why it helps maximize the use of patient data integrated into RDCA-DAP, and an overview of the de-identification solutions available to foundations and registries.
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Registration is open for the inaugural 2023 Rare and Orphan Disease Conference presented by Critical Path Institute. The Conference will focus on the role of data in drug development, with dedicated time to RDCA-DAP enhancements and case study examples of how contributed data has been used to develop solutions in the rare disease community, plus year-one highlights of the CP-RND initiative. Register here.
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Welcome to Our New Members!
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| We are excited to welcome the following patient organization to the NORD membership network! Learn more about our newest member below.
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The Raymond A. Wood Foundation empowers hypothalamic-pituitary brain tumor survivors with an improved quality of life by providing access to education, technology, and evolving treatments.
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Attend the Charcot-Marie-Tooth Association (CMTA) Patient & Research Summit
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The 2023 CMT Patient & Research Summit on Saturday, November 4 will offer life-improving presentations on living well with Charot-Marie-Tooth Disease (CMT) and will provide a comprehensive update on current STAR research. Spend the day learning how to manage CMT and hear how you can be involved in advancing CMT research through clinical trials and studies. Learn more here.
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Charot-Marie-Tooth Disease (CMT) is a group of
genetic disorders that cause nerve damage,
also called hereditary motor and sensory neuropathy. There are over 100 genes known to be responsible for various forms of CMT. Symptoms usually start in the feet and legs, appearing in adolescence or early adulthood.
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Attend the National Hemophilia Foundation’s 75th Annual Bleeding Disorders Conference
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NHF is thrilled to announce that the 75th Annual Bleeding Disorders Conference (BDC) will take place from August 17 to 19, 2023, in National Harbor, Maryland, at the
beautiful Gaylord National Resort & Convention Center. This opportunity is for anyone with any bleeding disorder, not just hemophilia.
Join NHF for three full days of educational sessions, networking opportunities, and access to our exhibit hall. Your registration includes entrance to the Opening Session, Awards Luncheon, and the exciting Final Night Event. We also have an Educational Kids Program available for children 12-years-old and younger. Learn more.
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Explore the New Uplifting Athletes Researcher Travel Program
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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.
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| Join the National Leiomyosarcoma Foundation’s Patient Family Education Session
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On August 18, The University of Colorado Health Sciences and the National Leiomyosarcoma (LMS) Foundation join forces to present "FACING LMS TOGETHER,” an in-person patient and family education session that will address the challenging LMS journey and how to cope with it. Session highlights include research and clinical trial updates, treatment updates, well-being survivorship tips, Q&A, and the opportunity for patients and caregivers to get together and share their perspectives. Contact Annie Achee at 303-808-3437 or annieachee@aol.com for more information. Learn more.
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Leiomyosarcoma is a cancerous tumor that arises from smooth muscle cells - the involuntary muscles over which the conscious brain has no control. Symptoms vary based on the size and location of the tumor, and patients may be asymptomatic at first. Eventually, general symptoms associated with cancer may occur including fatigue, fever, weight
loss, nausea, and vomiting.
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Participate in the 5th Annual National Leiomyosarcoma Research Roundtable
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The National LMS Research Roundtable, founded by the National Leiomyosarcoma Foundation, is in its 5th year of bringing together 140 researchers from around the world. Four workgroups will focus on the basic and translational research needed to advance treatment options for leiomyosarcoma patients. For more information and to participate, contact Annie Achee at 303-808-3437 or annieachee@aol.com. Learn more.
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Discover a New Sickle Cell Disease Program
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The Sickle Cell Disease Association of America, the leading patient organization for people with sickle cell disease, announced a pilot program with MedicAlert Foundation to enhance the safety and well-being of people living with sickle cell disease. Learn more here.
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Congratulations to the
2023 Histio Student Scholarship Recipients
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Histiocytic disorders are a group of diseases that occur when there is an over-production of white blood cells known as histiocytes that can lead to organ damage and tumor formation. While not recognized as a type of cancer, histiocytosis can frequently behave like cancer and so is treated by cancer specialists.
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Participate in Pheo Para Awareness
Week
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The Pheo Para Alliance’s 4th Annual Pheo Para Awareness Week will run from August 21-25. The objectives for Pheo Para Awareness Week include inspiring and empowering pheo para constituents to tell their stories to help raise awareness of the illness among health care providers. Learn more here.
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Pheochromocytoma (pheo) and paraganglioma (para) are neuroendocrine tumors that
form in the adrenal gland. They can occur at any age, but are most common for adults in their 30s-50s. They can cause chronic episodes of high blood pressure due to the release of the hormones norepinephrine and epinephrine. These episodes usually occur in brief spells of 15 to 20 minutes, and can happen as often as several times a day.
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Join the Pulmonary Hypertension Association (PHA) Professional Network Symposium
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The Pulmonary Hypertension Association (PHA) is hosting the PH Professional Network Symposium from September 28-30, 2023, at the Hyatt Regency Crystal City at Reagan National Airport outside of Washington, DC. This is a hybrid event (offered in-person and virtually). The objective of the Symposium is to advance knowledge about the latest PH research and therapies and to allow professionals to earn up to 11.0 continuing medical education credits. The Symposium is for nurses, nurse practitioners, pharmacists, pharmacy technicians, physicians, physician assistants, respiratory therapists, social
workers, and other clinicians whose practice includes the treatment of pulmonary hypertension (PH). Learn more here.
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Join the Tatton Brown Rahman Syndrome (TBRS) Community Summit
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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.
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The Raymond A. Wood Foundation Is Hiring
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The Raymond A. Wood Foundation (RAWF) is hiring a part-time Patient Registry Coordinator to help grow and manage the day-to-day activities of the first international patient registry for hypothalamic-pituitary brain tumors. The registry will be hosted on the NORD IAMRARE® platform. The goal of the registry is to create an international central repository of caregiver/patient-entered data about
living with hypothalamic-pituitary tumor syndromes in the short term. Learn more and apply.
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PSC Partners Annual Patient and Caregiver Conference
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The 2023 PSC Partners Annual Patient & Caregiver Conference will be taking place in Henderson, NV from September 8-10. The event will be packed with educational sessions presented by international primary sclerosing cholangitis (PSC) experts, supportive peer gatherings, and more! Learn more and register here.
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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.
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Explore a Siegel Rare Neuroimmune Podcast
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Dr. Linda Nguyen and Dr. Benjamin Greenberg joined Dr. GG deFiebre of Siegel Rare Neuroimmune Association (SRNA) for the third episode of “ADEM Academy.” This episode is titled “Building Your Healthcare Team for Successful Symptom Management for Those with ADEM.” Dr. Nguyen and Dr. Greenberg discussed physical, occupational, and speech therapy for the beginning and duration of the recovery process, and provided a summary of care for a patient with ADEM, five or ten years down the line and beyond. Learn more here.
Additonally, Dr. Benjamin Greenberg joined Dr. GG deFiebre of SRNA on the podcast series, “Ask the Expert: Research Edition.” This episode is titled “Update: Study to Investigate the Safety of the Transplantation of Human Glial Restricted Progenitor Cells into
Patients with Transverse Myelitis.” On the podcast series, Dr. Greenberg discussed the background and status of the study. He explained the screening process, enrollment, and next steps of the study. Learn more here.
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You received this email because you signed up for the NORD Newsletter or other NORD email subscriptions.
National Organization for Rare Disorders, 1900 Crown Colony Drive, Suite 310, Quincy, MA 02169, United States
Copyright ©2023 NORD – National Organization for Rare Disorders, Inc. All rights reserved.
Improving the health and well-being of people with rare diseases by driving advances in care, research and policy. Learn more at: rarediseases.org
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.
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