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Rare Diseases & Genetics
Orphan conditions, registries, gene testing, and family support networks.
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Latest in Rare Diseases & Genetics
FDA Rare Disease Framework Puts CMC Review in Scope
7+ hour, 59+ min ago (577+ words) PharmTech.com On Oct 14, 2026, The FDA announced the Rare Disease Framework Initiative, an effort to build a fit-for-purpose approach to developing and reviewing drugs and biologics for rare diseases.1 A new white paper describes the initiative, whose scope runs from…...
Overlooked DNA regions surrounding 'microexons' hold missing pieces of autism’s genetic puzzle
10+ hour, 26+ min ago (566+ words) New research from scientists at the University of Toronto, the Sloan Kettering Institute, King’s College London and the Francis Crick Institute, is helping piece together the missing genetics of autism spectrum disorder (ASD). In a study published today in Nature,…...
A microexon regulatory code reveals autism-linked genetic variation
22+ hour, 17+ min ago (1158+ words) Nature (2026) Cite this article Compared with putative microexons, the newly detected microexons are associated with higher 5′ and 3′ splice site strength scores and higher levels of surrounding sequence conservation (Fig. 1b–d; P Variants with the largest sibling-pair Δcode scores were classified…...
Elp1 is required for myeloid differentiation and brain repopulation
22+ hour, 17+ min ago (1641+ words) Nature (2026) Cite this article Computational analyses were performed using freely available software packages as described in detail in the Methods. If additional information for replication of this study is required, it will be available from the corresponding author upon reasonable…...
Researchers Develop Rapid Test for 15 Types of Mycobacteria
9+ hour, 46+ min ago (296+ words) Oct 14, 2026 | Infectious Diseases, Microbiology, Molecular Diagnostics | A multidisciplinary research team co-led by investigators at the University of North Carolina at Chapel Hill and Tulane University has developed a CRISPR-based diagnostic assay that rapidly detects and differentiates 15 nontuberculous mycobacteria (NTM) species…...
FDA Launches the Rare Disease Framework Initiative to Develop a Holistic, Fit-For-Purpose Framework for Rare Disease Drug Development
10+ hour, 47+ min ago (310+ words) HHS is a U.S. executive department that touches the lives of nearly all Americans by protecting your rights, research, food safety, health care, aging, and much more. HHS is advancing the Make America Healthy Again agenda by putting nutrition at the…...
Overlooked DNA Around Microexons May Help Explain Autism
10+ hour, 11+ min ago (527+ words) New research from scientists at the University of Toronto, the Sloan Kettering Institute, King's College London (KCL) and the Francis Crick Institute, is helping piece together the missing genetics of autism spectrum disorder (ASD). In a study published today in…...
Scientists identify novel autoimmune driver behind DNA repair breakdown in childhood cancer
15+ hour, 26+ min ago (401+ words) A team of scientists in Norway has found evidence for a new, previously unknown mechanism for the development of cancer in children: they seem to produce an unusual amount of aberrant antibodies against the building blocks that make up the…...
Genetic Study Connects MAP2K4 Changes to Neurodevelopmental Disorders
17+ hour, 23+ min ago (537+ words) Technology Networks...
Aberrant Antibodies That Cripple DNA Repair May Predict Childhood Cancer Years in Advance
15+ hour, 50+ min ago (636+ words) Bioengineer.org...