National Organization for Rare Disorders

The New York Center for Rare Diseases at Montefiore to Partner with GeneDx, PacBio and Google Health to Increase Genomic Testing Options for Bronx Families

Retrieved on: 
Wednesday, November 8, 2023
Albert Einstein College of Medicine, Center of excellence, DSM-IV codes, Genetic testing, Rare, RNA, Hope, Genetics, Research, NORD, Children's Hospital at Montefiore, Environment, Disease, Division, National Organization for Rare Disorders, Abraxis BioScience, FACMG, Partnership, CHAM, Google Health, GeneDx, Google AI, DNA encryption, Patient, Hospital, Pediatrics, DNA, Medical imaging, Vaccine, Genomics, Montefiore, The Bronx

BRONX, N.Y., Nov. 8, 2023 /PRNewswire/ -- The New York Center for Rare Diseases (NYCRD) at Montefiore, recognized as a Center of Excellence by the National Organization for Rare Disorders (NORD), is partnering with GeneDx, PacBio and Google Health to deliver genetic diagnoses for Bronx families living with rare diseases. The goal of the new partnership is to help identify the genetic causes of, and best treatments for rare diseases that have remained undiagnosed, despite using today's most advanced tests.

Key Points: 
  • On average, the search for a rare disease diagnosis takes five to seven years and can be fraught with misdiagnoses.
  • The focus of this research project on the Bronx in New York City adds a level of complexity to rare disease diagnostics.
  • "Our aim is to illuminate rare disease mysteries and bring answers and hope to families navigating the complexities of a rare disease."
  • Together with PacBio and Montefiore, we can help improve equity in genomics resources and help end long diagnostic odysseys for patients."

Nkem Chukwumerije, MD, MPH, FACP, President and Executive Medical Director, The Southeast Permanente Medical Group, Named to Modern Healthcare's 2023 List of "Top 25 Diversity Leaders"

Retrieved on: 
Tuesday, October 17, 2023
Bias, Health, Health care, Kaiser Permanente Bernard J. Tyson School of Medicine, Public, Organization, National Diversity Awards, MPH, San Francisco Digital Inclusion Strategy, National Organization for Rare Disorders, Workplace, Patient, Nursing, Workforce, FACP, American Medical Group Association, Policy, Hospital, Disability, Physician, Kaiser Permanente, Medical device, MD, Modern Healthcare

OAKLAND, Calif., Oct. 17, 2023 /PRNewswire/ -- The Permanente Federation today announced that Nkem Chukwumerije, MD, MPH, FACP, president and executive medical director of The Southeast Permanente Medical Group and executive sponsor and national physician lead for equity, inclusion and diversity for the Permanente Medical Groups, was recognized by Modern Healthcare as one of this year's "Top Diversity Leaders." The Modern Healthcare recognition program honors the top diverse individuals and organizations influencing policy, care delivery and public health, as well as promoting diversity, equity and inclusion in their organizations and in the health care industry.

Key Points: 
  • In addition, Modern Healthcare selected Dr. Chukwumerije for implementing equity, inclusion and diversity leader rounding at medical office buildings in his medical group to promote the importance of those concepts among physicians, clinicians and staff.
  • Also named to the 2023 "Top 25 Diversity Leaders" program is Ron Copeland, MD, senior vice president of National Diversity and Inclusion Strategy and Policy and chief equity, inclusion and diversity officer for Kaiser Foundation Health Plan and Hospitals.
  • Dr. Copeland also serves on the board of the Kaiser Permanente Bernard J. Tyson School of Medicine and the National Organization on Disability.
  • The complete list of Modern Healthcare honorees and their profiles are available at ModernHealthcare.com/awards/top-diversity-leaders-healthcare-2023 and in the October 16th issue of Modern Healthcare magazine.

National Organization for Rare Disorders Launches Education Series to Advance Patient Involvement in Rare Disease Drug Development

Retrieved on: 
Monday, October 16, 2023
Diagnosis, FCCP, United, Food, Drug development, Research, Critical Path Institute, Summit, National Organization for Rare Disorders, Clinical trial, Natural history study, Disease, FDA, Education, Rare, NORD, Pharming, Patient, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, University of Florida clinical toxicology distance education program, Curriculum, Medical device, Pharmaceutical industry

WASHINGTON, Oct. 16, 2023 /PRNewswire/ -- Today, the National Organization for Rare Disorders (NORD®) launched a new education series in English and Spanish titled, "Rare Disease Drug Development: What Patients and Advocates Need to Know," designed to help patients and patient advocacy groups understand the drug development process.

Key Points: 
  • WASHINGTON, Oct. 16, 2023 /PRNewswire/ -- Today, the National Organization for Rare Disorders (NORD®) launched a new education series in English and Spanish titled, "Rare Disease Drug Development: What Patients and Advocates Need to Know," designed to help patients and patient advocacy groups understand the drug development process.
  • New education series in English and Spanish: "Rare Disease Drug Development: What Patients and Advocates Need to Know.
  • "The goal of this educational series is to engage the rare disease community on their essential role in the drug development process and ultimately help produce more and better treatments for rare disease," said Rebecca Aune, Director of Education Programs at the National Organization for Rare Disorders.
  • The first modules, on "Drug Development Process", "Stakeholder Roles in Drug Development" and "Natural History Studies," are now available for free at learn.rarediseases.org .

NATIONAL ORGANIZATION FOR RARE DISORDERS HOSTS 2023 BREAKTHROUGH SUMMIT

Retrieved on: 
Thursday, October 12, 2023
Gene editing, AI, Entrepreneurship, Mental health, Multimedia, National Organization for Rare Disorders, Inflation Reduction Act of 2022, City, Inflation, Public, NORD, Rare, Pharmaceutical industry, Agriculture, Management

WASHINGTON, Oct. 12, 2023 /PRNewswire/ -- 

Key Points: 
  • Join the National Organization for Rare Disorders (NORD) Oct. 15-17, 2023 in Washington for the
    Rare Diseases and Orphan Products Breakthrough Summit.
  • This event brings together rare
    tackle the most pressing issues facing America's rare disease community.
  • more than 7,000 rare diseases that impact 1 in 10 Americans.
  • From small towns to large cities, more than 30 million
    Americans have a rare disease.

Coalition to Cure Calpain 3 in Partnership with the National Organization for Rare Disorders (NORD®) Launches LGMD2A/Calpainopathy Registry

Retrieved on: 
Thursday, September 21, 2023
Partnership, Drug development, Therapy, NORD, Parent, Community Participation, Policy, Research, National Organization for Rare Disorders, NIH Intramural Research Program, Muscle weakness, C3, Guardians of the Galaxy, Wasting, Patient, Health, Muscular dystrophy, Disease, Medical device, Nursing

Additionally, the study will help identify individuals with Calpainopathy who might be willing to take part in other research studies or clinical trials.

Key Points: 
  • Additionally, the study will help identify individuals with Calpainopathy who might be willing to take part in other research studies or clinical trials.
  • While the original registry served primarily to contact Calpainopathy patients, the new registry will have the capability to collect longitudinal data by having participants periodically update their information.
  • "The LGMD2A/Calpainopathy Registry will provide a complete picture of each patient's experience with this disease," shares Dr. Jennifer Levy, C3 Scientific Director.
  • "This new study has tremendous promise as a strong partnership that engages the patient community and addresses current knowledge gaps for Calpainopathy.

National Organization for Rare Disorders Announces More Than $100,000 in Grant Funding Available for Rare Disease Research

Retrieved on: 
Tuesday, September 19, 2023
LYS, NORD, Syndrome, National Organization for Rare Disorders, NIH Intramural Research Program, Clan, Arteriovenous malformation, AVM, MMIHS, Rare, FDA, NIH, Pharmaceutical industry

DANBURY, Conn., Sept. 19, 2023 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®) announced three new grant funding opportunities related to the following rare diseases: Arteriovenous Malformation (AVM), Levy-Yeboa Syndrome (LYS), and Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS).  

Key Points: 
  • The National Organization for Rare Disorders (NORD) announces three new research opportunities for AVM, LYS, and 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.
  • 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).
  • To learn more or submit to the 2023 NORD Research Grants Cycle, visit rarediseases.org/advancing-research/request-for-proposals/

Dormie Network Champions Rare Pediatric GI Patient Community with Donation to Avery's Hope

Retrieved on: 
Wednesday, August 30, 2023
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LINCOLN, Neb., Aug. 30, 2023 /PRNewswire/ -- Dormie Network, a collection of luxury, private destination golf clubs, is thrilled to announce Avery's Hope and its TopGolf Fundraiser for Avery's Hope held June 25, as the winner of the third annual Play It Forward giveaway.

Key Points: 
  • This year's award underscores the creative, inclusive approach of Avery's Hope in supporting families.
  • The giveaway, presented in partnership with leading golf event management and fundraising platform GolfStatus , celebrates those who use golf for good.
  • This year's award underscores the creative and inclusive approach of Avery's Hope in supporting families with rare pediatric GI illnesses.
  • Avery's Hope, a small, grassroots organization, has formed partnerships with major national institutions specializing in rare pediatric GI care, including five major children's hospitals, the National Organization for Rare Disorders, and Patients Rising Now Helpline.

AI Therapeutics Announces Appointment of Biotechnology Industry Leader David Scheer as Chairman of the Board of Directors

Retrieved on: 
Wednesday, July 12, 2023
Yale University, National Medal of Technology and Innovation, DNA, Bioethics, Therapy, Esperion Therapeutics, Harvard T.H. Chan School of Public Health, NORD, Biotechnology, Johnson & Johnson, NYU, Microsoft Access, National Medal, Innovation, National Organization for Rare Disorders, Harvard College, Harvard University, Esperies, Developmental Biology (journal), Public health, Investment, Patient, Initial public offering, AI, Rare, Global Virus Network, Pharmaceutical industry, Medical device, Cell, ViroPharma

GUILFORD, Conn., July 12, 2023 (GLOBE NEWSWIRE) -- AI Therapeutics, Inc. , a clinical-stage biopharmaceutical company developing novel therapeutics for rare diseases, announced today the appointment of David Scheer as Chairman of the Board of Directors.

Key Points: 
  • GUILFORD, Conn., July 12, 2023 (GLOBE NEWSWIRE) -- AI Therapeutics, Inc. , a clinical-stage biopharmaceutical company developing novel therapeutics for rare diseases, announced today the appointment of David Scheer as Chairman of the Board of Directors.
  • Since 1981, Mr. Scheer has provided corporate strategic and transactional advisory services to the life sciences industry as founder and President of Scheer & Company.
  • “It is with great pleasure that I welcome David Scheer as Chairman of AI Therapeutics.
  • Dr. Rothberg is a true visionary, and we are grateful for his continued involvement as a Director of the Company.”
    “It is a privilege to join the AI Therapeutics Board of Directors as Chairman,” said Mr. Scheer.

The Galactosemia Foundation and National Organization for Rare Disorders (NORD) Jointly Publish First "Voice of the Patient" Report to Help Inform the FDA and Researchers

Retrieved on: 
Thursday, July 6, 2023
DSM-IV codes, NORD, Human, National Organization for Rare Disorders, Patient, Human voice, Drug development, Health, FDA, Regulation of food and dietary supplements by the U.S. Food and Drug Administration, Galactosemia, Food, Caregiver, External counterpulsation, Disease, Pharmaceutical industry, Medical device, Nursing

WASHINGTON and ALBANY, N.Y., July 6, 2023 /PRNewswire/ -- The Galactosemia Foundation and the National Organization for Rare Disorders (NORD)® today announced they have jointly published the galactosemia community's first "Voice of the Patient" report.

Key Points: 
  • WASHINGTON and ALBANY, N.Y., July 6, 2023 /PRNewswire/ -- The Galactosemia Foundation and the National Organization for Rare Disorders (NORD)® today announced they have jointly published the galactosemia community's first "Voice of the Patient" report.
  • This report provides a comprehensive overview of patient and caregiver experiences with this rare metabolic disease, which currently has no approved treatment options.
  • The report follows a historic Externally Led Patient-Focused Drug Development (EL-PFDD) meeting hosted by the Galactosemia Foundation and NORD last September.
  • The "Voice of the Patient" report is available for download now, and a recording of the entire EL-PFDD meeting on galactosemia can be viewed here .

Stanford Medicine Children's Health Receives Rare Disease Centers of Excellence Designation

Retrieved on: 
Thursday, May 11, 2023
Fanconi anemia, Definitive, Culture, NORD, PALO, IPEX, FSGS, Stanford University, Research, National Organization for Rare Disorders, Doctor of Philosophy, Bangladesh Technical Education Board, Dialysis, Hospital, Patient, IPEX syndrome, Focal segmental glomerulosclerosis, Child, Diagnosis, Rare, NIH, Disease, Pharmaceutical industry, Nursing, Health, MD

PALO ALTO, Calif., May 11, 2023 /PRNewswire/ -- Stanford Medicine Children's Health has been named one of the National Organization for Rare Disorders (NORD) Rare Disease Centers of Excellence, which are dedicated to diagnosing, treating, and researching all rare diseases.

Key Points: 
  • PALO ALTO, Calif., May 11, 2023 /PRNewswire/ -- Stanford Medicine Children's Health has been named one of the National Organization for Rare Disorders (NORD) Rare Disease Centers of Excellence, which are dedicated to diagnosing, treating, and researching all rare diseases.
  • Natalia Gomez-Ospina, MD, PhD , will serve as the Director for Stanford Children's NORD Center of Excellence for Rare Disorders.
  • "No single organization can tackle caring for rare diseases alone," says Dennis Lund, MD , Chief Medical Officer of Stanford Medicine Children's Health.
  • And some patients with rare diseases may benefit from only-at-Stanford clinical trials offered through the Stanford Medicine Center for Definitive and Curative Medicine .