Rare Disease Day

CENTOGENE Collaborates on Research Published in Science Showing Immunopathological Landscape of Human Pre-TCRα Deficiency

Retrieved on: 
Thursday, February 29, 2024
Infection, Rare disease, Senior, Genomics, Research, Vertebrate, Penetrance, Prevalence, CNTG, Autoimmunity, Health, Rare Disease Day, Patient, Genetics, Immunity, Immunology, Human, Vaccine

The study revealed that complete pre-TCRα deficiency is rare in humans and less severe than anticipated.

Key Points: 
  • The study revealed that complete pre-TCRα deficiency is rare in humans and less severe than anticipated.
  • Prof. Peter Bauer, Chief Medical and Genomic Officer at CENTOGENE, said, "This research advances our understanding of pre-TCRα deficiency significantly.
  • In analyzing genomic and phenomic data, CENTOGENE researchers helped establish the association between partial pre-TCRα deficiency and autoimmunity, with a higher prevalence than initially expected.
  • Christian Beetz, Senior Director Genomic Innovation at CENTOGENE, added, “Until now, the impact of pre-TCRα deficiency has been largely unknown.

PRISM MarketView Highlights Work of Emerging Companies on Rare Disease Day

Retrieved on: 
Thursday, February 29, 2024
Rare disease, Therapy, Regenerative Medicine Advanced Therapy, FAP, Concha bullosa, Sulindac, Chemistry, Fast track (FDA), Muscular dystrophy, FDA, Sensation, News, Eflornithine, DMD, Prader–Willi syndrome, BLA, Chromosome, RDEB, PDUFA, Skin, Voyager, PRISM, Duchenne muscular dystrophy, Safety, Neurocrine Biosciences, Rare Disease Day, Genetics, Fatigue, Walking, PWS, Patient, DSM-IV codes, Medicine, Disease, Exosome, FA, CMC, Priority review, Pharmaceutical industry

All areas of medicine, and all organs and body systems, are impacted by rare diseases, including rare neurological and neuromuscular diseases, metabolic, skin and bone diseases, and chromosomal disorders.

Key Points: 
  • All areas of medicine, and all organs and body systems, are impacted by rare diseases, including rare neurological and neuromuscular diseases, metabolic, skin and bone diseases, and chromosomal disorders.
  • Today on Rare Disease Day, PRISM MarketView highlights emerging companies working to deliver life changing treatments for those living with rare diseases.
  • RDEB is a severe rare disease characterized by extremely fragile, and extensive blistering and wounds.
  • Capricor is a biotechnology company dedicated to advancing transformative cell and exosome-based therapeutics to redefine the treatment landscape for rare diseases.

Cytokinetics Joins Global Initiative to Recognize International Rare Disease Day

Retrieved on: 
Thursday, February 29, 2024
SAN, Education, Health equity, Diagnosis, Patient, Rare Disease Day, Cytokinetics, Pharmaceutical industry

SOUTH SAN FRANCISCO, Calif., Feb. 29, 2024 (GLOBE NEWSWIRE) -- Cytokinetics, Incorporated (Nasdaq: CYTK) today announced that it is joining the European Organisation for Rare Diseases (EURORDIS) and the National Organization for Rare Disorders (NORD) to recognize Rare Disease Day®.

Key Points: 
  • SOUTH SAN FRANCISCO, Calif., Feb. 29, 2024 (GLOBE NEWSWIRE) -- Cytokinetics, Incorporated (Nasdaq: CYTK) today announced that it is joining the European Organisation for Rare Diseases (EURORDIS) and the National Organization for Rare Disorders (NORD) to recognize Rare Disease Day®.
  • Rare Disease Day® is an international campaign elevating the awareness and public understanding of rare diseases.
  • The initiative spotlights the more than 300 million people worldwide living with a rare disease, and the awareness efforts focused on bringing them more equitable access to diagnosis, treatment, care and social opportunity.
  • “We are proud to be joining EURORDIS, NORD and countless others worldwide to recognize Rare Disease Day and stand in support of those who bravely navigate the complexities and challenges of rare diseases," said Robert I. Blum, Cytokinetics’ President and Chief Executive Officer.

BioTek reMEDys Calls for Heightened Awareness of Safe Medication Use Around Rare Disease Day

Retrieved on: 
Thursday, February 29, 2024
Medical Supplies, Practice Management, Education, Other Consumer, Other Health, Health, Seniors, Pharmaceutical, Family, Consumer, Other Education, Physician, Disease, Pain, BioTek, Caregiver, Rare Disease Day, Approximation error, Patient, Pharmacist, Disorder, Pharmaceutical industry

In recognition of today being Rare Disease Day , BioTek reMEDys , a multi-site national integrated infusion therapy provider focused on providing support to people with rare diseases, is publicly calling for awareness of safe medication use for patients with rare diseases and conditions.

Key Points: 
  • In recognition of today being Rare Disease Day , BioTek reMEDys , a multi-site national integrated infusion therapy provider focused on providing support to people with rare diseases, is publicly calling for awareness of safe medication use for patients with rare diseases and conditions.
  • Rare Disease Day raises awareness for the 300 million people living with rare disease around the world and their families and caregivers.
  • To learn more about Rare Disease Day and rare conditions in general, visit rarediseaseday.org .
  • BioTek reMEDys is a multi-site national integrated infusion therapy provider focused on providing support to people with rare diseases.

JCR Pharmaceuticals Celebrates Rare Disease Day 2024 and Highlights Its Commitment to the Rare Disease Community

Retrieved on: 
Thursday, February 29, 2024
Health, Other Science, General Health, Research, Science, Pharmaceutical, Biotechnology, JCR, Anxiety, Caregiver, Physician, Dream, Quality of life, Hope, RDD, DSM-IV codes, Rare Disease Day, Disease, Internal, Pharmaceutical industry

RDD activities aim to raise awareness of rare diseases and to improve the quality of life of individuals with rare and intractable diseases through better diagnoses and treatments.

Key Points: 
  • RDD activities aim to raise awareness of rare diseases and to improve the quality of life of individuals with rare and intractable diseases through better diagnoses and treatments.
  • JCR Pharmaceuticals Co., Ltd. (TSE 4552; Chairman and President: Shin Ashida; “JCR”) endorses the important mission of RDD and will advocate for RDD 2024 in Japan.
  • There are more than 6,000 rare diseases with an estimated 300 million individuals worldwide living with a rare disease.
  • Highlights of external awareness raising-activities for RDD:
    For JCR, RDD does not stop on the last day of February; it reminds us of our purpose every day to help raise awareness and generate change for the rare disease community worldwide.

Avidity Biosciences Honors Rare Disease Day®

Retrieved on: 
Thursday, February 29, 2024
Rare disease, Therapy, SAN, Avidity, Caregiver, DMD, Duchenne muscular dystrophy, Facioscapulohumeral muscular dystrophy, Hope, Learning, DM1, RNA, Rare Disease Day, FSHD, Patient, Disease, AOC, Myopathy, Research

"Today, on Rare Disease Day, we are proud to join the global community in raising awareness for people living with rare diseases," said Sarah Boyce, president and chief executive officer at Avidity.

Key Points: 
  • "Today, on Rare Disease Day, we are proud to join the global community in raising awareness for people living with rare diseases," said Sarah Boyce, president and chief executive officer at Avidity.
  • "Recently, we had the privilege of hosting individuals affected by rare muscle diseases at Avidity.
  • Rare Disease Day takes place on the last day of February each year with the goal to raise awareness of the impact of rare diseases worldwide.
  • EURORDIS established Rare Disease Day in 2008 and coordinates with more than 70 national alliance patient organizations each year to honor those living with rare diseases as well as their families and caregivers.

Championing Rare Voices on Rare Disease Day

Retrieved on: 
Monday, February 26, 2024
Rare disease, Education, Physician, Quality of life, Federation, Hope, Takeda, Rare Disease Day, Patient, Disease, Diagnosis, Cystic fibrosis, Partnership

Recently, 13 Canadian rare disease organizations, in partnership with Takeda Canada Inc. ("Takeda"), united to launch I Am Number 12 - a national campaign dedicated to sharing the unique stories and perspectives of rare disease Changemakers, and to show that rare diseases aren't really that rare.

Key Points: 
  • Recently, 13 Canadian rare disease organizations, in partnership with Takeda Canada Inc. ("Takeda"), united to launch I Am Number 12 - a national campaign dedicated to sharing the unique stories and perspectives of rare disease Changemakers, and to show that rare diseases aren't really that rare.
  • The initiative continues to amplify the voices of those in the community to encourage conversations on Rare Disease Day.
  • "Rare Disease Day is a symbol of hope for millions of Canadians impacted by rare diseases.
  • "Takeda is honoured to partner with rare disease organizations who work tirelessly to advocate for the one in twelve Canadians affected by a rare disease."

Horizon Therapeutics plc Announces 2023 #RAREis Global Advocate Grant Recipients

Retrieved on: 
Thursday, July 27, 2023
Philanthropy, Health, Other Philanthropy, Other Health, General Health, Pharmaceutical, Biotechnology, Organization, Rare disease, Rare Disease Day, Education, Disease, Pharmaceutical industry

Horizon Therapeutics plc (Nasdaq: HZNP) today announced the 50 awardees from around the world selected to receive the 2023 #RAREis™ Global Advocate Grant.

Key Points: 
  • Horizon Therapeutics plc (Nasdaq: HZNP) today announced the 50 awardees from around the world selected to receive the 2023 #RAREis™ Global Advocate Grant.
  • These rare disease patient advocacy organizations will receive a one-time grant of $5,000 to establish new programs, develop educational resources and expand their current offerings to support their disease communities.
  • “At Horizon, our inclusive approach to supporting patient advocacy groups helps these organizations address the most critical needs affecting their rare disease community,” said Matt Flesch, vice president, communications and patient advocacy, Horizon.
  • The 50 organizations awarded the grant in 2023 represent 12 countries and focus on supporting 40 different rare diseases.

Rocket Pharmaceuticals Reports First Quarter 2023 Financial Results and Highlights Recent Progress

Retrieved on: 
Thursday, May 4, 2023
Health, Genetics, Research, Pharmaceutical, Science, Biotechnology, LV, Frontiers, PKD, Rare Disease Day, Stanford University School of Medicine, Genetic distance, Patient, Investment, Division, Cell, Commercial, Danon disease, BLA, Disease, Inflammation, Gene, University, Rare disease, Medication, CGMP, Recombinant, Medicine, Diagnosis, Immunology, Rare, UCLA, Whole genome sequencing, Conference, Caregiver, The Human Side, University of California, Empire, AAV, Fanconi anemia, Haematopoietic system, First, ATM, Rocket, Molecule, Education, Doctor of Philosophy, Los Angeles Convention Center, AstraZeneca, Disorder, Sale, Regenerative medicine, FA, Pharmacology, Society, Pharmaceutical industry, Vaccine, Dentistry, Cryptocurrency, G&A, EU, Pediatrics, Microbiology

We look forward to leveraging this strong cash position, which will take us through planned launches in 2024," said Dr. Shah.

Key Points: 
  • We look forward to leveraging this strong cash position, which will take us through planned launches in 2024," said Dr. Shah.
  • We look forward to continuing this progress into the next quarter and year.”
    Danon, FA, LAD-I, PKD trials and plans for PKP2-ACM and BAG3-DCM preclinical programs remain on track.
  • As a founding consortium member, Rocket will play a leading role advocating for early diagnosis of patients with genetic rare diseases.
  • As of March 31, 2023, Rocket had cash, cash equivalents and investments of $360.0 million.

Canadian Organization for Rare Disorders welcomes federal funding for rare drug plan to accelerate access to diagnostics and treatments

Retrieved on: 
Wednesday, March 22, 2023
Pharmacare, Health, Face, Ipsos, Organization, Rare disease, Data collection, Rare Disease Day, Research, Federal, Durhane Wong-Rieger, Patient, McGill University, CORD, Diagnosis, Federation, Rare, Canadian Organization for Rare Disorders, Conference, Disease, Pharmaceutical industry, Medical device

CORD welcomes the new drug funding announcement that will boost comprehensive rare disease strategies emerging across Canada, building on the Rare Disease Strategy launched by CORD in 2015.

Key Points: 
  • CORD welcomes the new drug funding announcement that will boost comprehensive rare disease strategies emerging across Canada, building on the Rare Disease Strategy launched by CORD in 2015.
  • For decades, Canada has been one of the only developed countries without a national rare disease plan, Wong-Rieger noted.
  • "With this announcement, Canada has the opportunity to implement the very best program in the world for rare disease patients.
  • Rare disease centres would address a wide variety of gaps that exist in the diagnosis and treatment of rare diseases."