Artificial intelligence can filter through electronic health records (EHRs) to identify patients with rare, undiagnosed diseases, research suggests. A machine-learning algorithm was able to spot more than half of individuals who went on to be diagnosed with the inherited disease of common variable immunodeficiencies (CVID). The group of immune disorders…

By Larissa Warneck-Silvestrin July 24th of 2006. It’s a date that you never forget.” On that fateful Monday, Sharon King and her husband were told by a geneticist that their seven-year-old daughter, Taylor, had a rare genetic disease. They asked the geneticist what they could do and where to seek…

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…

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…

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…

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…

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…

The reality is that with nearly 11,000 identified rare diseases, with many that have only dozens of diagnosed patients, the economics of drug discovery and development simply don’t work within existing business models. But don’t tell that to the parents and family members of kids born with a rare disease.…

Guardian Research Network (GRN) and ThinkGenetic have announced a strategic collaboration to accelerate the diagnosis and support the development of treatment options for patients with rare and genetic diseases. The collaboration leverages GNR’s healthcare data science and clinical expertise with ThinkGenetic’s experience in the development of electronic health record (EHR)…

The Hospital for Sick Children (SickKids) in Toronto has announced that it will employ PacBio’s HiFi long-read, whole-genome sequencing (WGS) technology as a diagnostic tool to identify genetic variants that may be associated with undiagnosed medical and development conditions. The collaboration will use samples that have been previously subjected to…

By Alison Bateman-House, PhD, MPH, MA and Lisa Kearns, MS, MA Introduction Patients who have no therapeutic or diagnostic options available may seek access to investigational (experimental) products in development by enrolling in clinical trials. For seriously ill patients who cannot join a trial, Expanded Access (EA) may be a…

Co-production in healthcare means that patients and caregivers can contribute to the patient’s healthcare as partners of their professional providers and community. This collaborative approach to care recognizes clinicians as experts on medical science and patients as experts on their own values and preferences; it even allows for others to…

Sponsored content brought to you by Maximillian Schmid, M.D. Chief Commercial Officer – Diagnostics, CENTOGENE With an average of seven years to pinpoint a diagnosis, with less than 250 FDA approved treatments, patients with one of the over 7,000 different rare diseases are currently facing some of…

Researchers headed by a team at the University of Vienna have now developed a multiplex network that maps all genes and their interactions on multiple levels and improves the identification of genetic defects and the assessment of their consequences. The hope is that the use of these data will aid…

Twist Bioscience will partner with German rare-disease diagnostics biotech Centogene to develop high-quality, rapid tests for rare diseases. Centogene is already a specialist in rare-disease genetics and diagnostics, but plans to use U.S.-based Twist’s library preparation and target enrichment capabilities to help produce new tests. Specific target enrichment panels, as…