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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
Machine Learning Reads Protein Disorder to Sort Autism Genes from the Rest
1+ hour, 40+ min ago (623+ words) A new machine learning study shows that the amount of intrinsic disorder in a gene's protein product can help distinguish autism-associated genes from controls, with highly disordered proteins linked to behavior and cognition....
Number of autism-linked genes more than triples in new analyses
8+ hour, 11+ min ago (357+ words) In addition to a new preprint that expands the list of genes tied to the condition, two related analyses reveal how variants in those genes contribute to genetic susceptibility. The list of high-confidence autism-linked genes has expanded to 253, according to…...
Smooth Muscle Cells Take Center Stage as Gene Study Reveals New Clues to Pulmonary Hypertension
4+ hour, 6+ min ago (84+ words) By merging bulk and single-cell RNA sequencing with machine learning and lab experiments, researchers have identified smooth muscle cells as central communicators in pulmonary hypertension and pinpointed five genes, including MFGE8, SFRP2, S100A11, PCOLCE2, and C1R, that may serve as both diagnostic biomarkers and Article…...
Syntax Bio to Present New Cellgorithm™ Research at ISSCR iPSC 20th Anniversary Symposium in Kyoto
9+ hour, 57+ min ago (179+ words) CHICAGO--(BUSINESS WIRE)--Syntax Bio will present new research on its Cellgorithm™ cell-programming platform at the International Society for Stem Cell Research (ISSCR) iPSC 20th Anniversary Symposium, held Oct. 20-22 at the Kyoto International Conference Center in Kyoto, Japan. The research showed…...
X-Chromosome Gene Linked to Increased Autism Diagnosis in Males
13+ hour, 39+ min ago (703+ words) Genetic Engineering and Biotechnology News Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, and collaborating institutions have identified new genetic candidates that help explain why autism is diagnosed about four times…...
Antibiotic Resistance in Pregnancy-Related UTIs: New Data Reveal E. coli Patterns and Clinical Risks
10+ hour, 38+ min ago (430+ words) How well do your empiric antibiotic choices match local resistance trends in pregnant women with UTIs? With up to 40% of pregnant inpatients showing positive urine cultures and growing antibiotic resistance, the stakes for targeted therapy have never been higher. Study…...
Case 1: Assessing Severity and Barriers to Biologics in HS
10+ hour, 14+ min ago (292+ words) A 29-year-old with years of axillary and groin disease illustrates how psychosocial toll, not just visible lesions, should guide the decision to escalate beyond conventional HS therapy. In "Case 1: Assessing Severity and Barriers to Biologics in HS," the panel turns…...
One patient at a time, Mayo Clinic takes on the world’s rarest diseases
13+ hour, 21+ min ago (1258+ words) Behind the glass walls of her Mayo Clinic neuroscience laboratory, Margot Cousin, Ph.D., watches tiny clusters of living neurons flicker across her computer screen. Magnified hundreds of times, the cells carry the genetic variant responsible for KCNK9 imprinting syndrome, one of…...
AI Struggles With Severe Asthma Biologic Selection
14+ hour, 9+ min ago (259+ words) AI IN severe asthma showed poor agreement with multidisciplinary teams when selecting biologic therapy for uncontrolled disease. Agreement between the multidisciplinary team and individual AI models was poor, with Cohen κ values ranging from 0.143 to 0.213. Agreement among the AI models…...
bioAffinity Technologies to Present Positive Research Data in Development of Its New Test Measuring Asthma and COPD-Related Lung Inflammation and Drug-Related Receptors at CHEST 2026
15+ hour, 39+ min ago (429+ words) The research detected cellular and soluble drug targets in sputum, but treatment-selection use requires further research and validation. Findings report on ability to measure cellular and soluble inflammatory protein biomarkers in sputum, including biologic drug targets Company advances research and…...