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Published on March 1, 2024
The Advanced Research Projects Agency for Health (ARPA-H) is allocating up to $48 million to the non-profit Every Cure in Philadelphia for repurposing approved drugs for rare diseases. The award includes the potential for additional funds to validate the most promising drug-disease matches in clinical trials. “This project will harness…
Published on November 3, 2023
Oxford Nanopore and Genomics England are teaming up to sequence up to 7,500 samples from people with a range of genetic or suspected genetic disorders to improve diagnostic outcomes in rare diseases. Building on Genomics England’s landmark 100,000 Genomes Project, this effort also aims to develop an accredited lab workflow…
Published on October 26, 2023
Metabolomics-focused life sciences company Metabolon and genomic medicine organization Genomics England announced they will partner to advance the characterization of hundreds of rare diseases with the goal of advancing rare disease diagnosis. Metabolon will generate metabolomic data for more than 7,000 participants of the 100,000 Genome Project, one of the…
Published on October 3, 2023
An accelerator with funding and partners in the U.K. and U.S. has been launched by the Oxford-Harrington Rare Disease Centre to encourage innovation and the development of new therapeutics in the rare disease field. The Oxford-Harrington Rare Disease Centre is a joint organization, founded in 2019, that includes rare disease…
Published on October 2, 2023
The U.S. FDA has launched the Support for Clinical Trials Advancing Rare Disease Therapeutics (START) pilot program to speed up the development of therapies for rare diseases. The FDA’s Center for Biologics Evaluation and Research (CBER) Office of Therapeutic Products and Center for Drug Evaluation and Research (CDER) Office of…
Published on September 15, 2023
New research by the EveryLife Foundation for Rare Diseases, in one of the first studies of healthcare utilization and costs for patients with a rare disease, has found that early rare disease diagnosis could save as much as $500,000 per patient. The report, “The Cost of Delayed Diagnosis in Rare…
Published on August 29, 2023
Researchers at the University of Michigan have discovered that a rare disease called cystinosis shares the same molecular mechanism as found in a form of cystic fibrosis. This novel finding, reported in the Journal of Clinical Investigation sheds light on how mutated proteins are cleared by the mechanism, impacting the…
Published on July 28, 2023
Alexion, AstraZeneca’s rare disease subsidiary, is acquiring a portfolio of preclinical gene therapy programs from Pfizer. The deal will bring a number of novel adeno-associated virus (AAV) capsids to Alexion and help build on AstraZeneca’s capabilities in genomic medicine. Under the agreement, Alexion will purchase and license the assets of…
Published on June 23, 2023
Former rare disease firm Aeglea BioTherapeutics has reinvented itself by acquiring newly minted Spyre Therapeutics, which has a pipeline of antibody therapeutics for inflammatory bowel disease (IBD). Spyre says it specializes in long-acting antibodies, rational therapeutic combinations, and precision immunology approaches. Concurrent with the stock-for-stock deal, Aeglea entered a private…
Published on June 12, 2023
Results from the 100,000 Genomes cohort in the U.K. show that RNA sequencing has the potential to increase the number of diagnoses given to individuals with rare disease. The researchers predict that over 20% of people in the cohort who did not achieve a diagnosis with genome or exome sequencing…
Published on June 5, 2023
By Harsha Rajasimha Patients with rare diseases often lack adequate access to treatment due to a lack of awareness and medicines. Rare diseases include congenital malformations, autoimmune disorders, lysosomal storage disorders, thalassemia, muscular dystrophies, some forms of cancer, and certain endemic infectious diseases with a very low prevalence, among others.…
Published on May 8, 2023
Research led by Mass General Hospital for Children suggests that almost 90% of rare disease experts are in favor of newborn genome sequencing for monogenic treatable disorders. As reported in JAMA Network Open, the researchers also asked about newborn screening for actionable adult-onset conditions and screening for conditions with no…
Published on April 12, 2023
The beginning of this year marks the 40th anniversary of the passing of the Orphan Drug Act. While the field of rare diseases has seen much progress both in diagnostics and the development of new therapies since then, there are still significant challenges that need to be overcome to reach…
Published on March 17, 2023
Researchers studying the genomes of nearly 30,000 families have discovered genetic causes behind three rare diseases. Their “Rareservoir” database revealed genetic explanations for primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness. The flexible and compact database, which contains rare variant genotypes and phenotypes collected by the U.K.’s 100,000 Genomes…
Published on February 10, 2023
Results aren’t usually publicly shared, but behind the scenes, real-world data (RWD) and evidence (RWE) are having a big effect on rare disease drug development and clinical management. That impact is particularly evident in Duchenne Muscular Dystrophy (DMD) right now. Sarepta Therapeutics, for example, has three commercial DMD products already.…