Orphan conditions, registries, gene testing, and family support networks.
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To identify the genetic causes of the neurological syndrome, the scientists began what they call a 'fishing expedition.' "We sequenced the genes of each of the patients and by a process of comparison and elimination we found that the patients…
Dublin, Oct. 15, 2026 (GLOBE NEWSWIRE) -- "Charcot-Marie-Tooth Disease - Market Insight, Epidemiology, and Market Forecast - 2036" has been added to ResearchAndMarkets.com's offering. Current Treatment Landscape and Unmet Medical Need Pipeline Innovation Reshapes the CMT Disease Market In March 2026, NMD Pharma announced presentations highlighting…
A six-year Chinese surveillance study of nearly 5,700 pediatric urine isolates shows the COVID-19 pandemic significantly altered both the bacterial causes of children's urinary tract infections and their patterns of antibiotic resistance. Subject of Research: Epidemiology and antibiotic resistance of pediatric…
Certain common genetic changes might make some people with focal epilepsy less responsive to seizure medications, finds a new global study led by researchers at UCL and UTHealth Houston. Focal epilepsy is a condition where seizures start in one part…
Deep in the landscape of rare childhood epilepsy, a single genetic letter change can rewrite a child's life.
Autism is diagnosed far more often in boys than in girls, and the reason is still unclear. One possibility involves genetic changes on the X chromosome, of which boys typically have only one copy. The gene in this story, MECP2, isn’t…
Retinitis pigmentosa has long been understood as a genetically heterogeneous condition, meaning that mutations in many different genes can produce a similar clinical picture of progressive photoreceptor degeneration.
A new study integrating bulk and single-cell RNA sequencing identifies two mitochondrial quality control-related genes with distinct immune and metabolic signatures in rheumatoid arthritis.
A new trans-ancestry polygenic risk score built by fusing East Asian and European genome-wide association data markedly improves coronary artery disease risk prediction in the Chinese population.
Bioengineer.org Subject of Research: Molecular detection of polymicrobial bloodstream infections using 16S rDNA PCR library amplicons compared with blood culture and high-throughput sequencing Article Title: Enhanced detection of polymicrobial bloodstream infections with 16S rDNA PCR library amplicons and clinical relevance