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heterozygous variant in the gabbr2 gene in a girl with clinical classic rett syndrome
Original title: “A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome.”
Tens of millions of Americans live with rare or undiagnosed diseases. These scientists are working to deliver them better diagnostics and treatments. Emily Glanton, a genetic counselor and associate director of Undiagnosed Diseases Network Data Management Coordinating Center, estimates that 80% of rare diseases are genetic in origin. ... "We certainly don't have a way to know [exactly] how many people have a disease that we haven't even discovered the name or cause of," Dr. Jacqueline Harris, a pediatric neurologist and director of Kennedy Krieger's Epigenetics Clinic in Baltimore, told Live Science. As of yet, there are no clinical guidelines surrounding exome and genome sequencing testing for people with undiagnosed and rare diseases. Millions of Americans are diagnosed with common conditions like cancer and diabetes — but some 10% of the population live with rare diseases that doctors often struggle to diagnose. On average, those with rare diseases will spend five to seven years searching for answers and see 12 specialists before they arrive at a diagnosis. In the process, they may be subject to incorrect, ineffective or even harmful treatments. 10,000 rare diseases and less than 5% of them have a treatment approved by the U.S. Food and Drug Administration.
Original title: “'The right diagnosis is unbelievably powerful': It can take years to diagnose rare diseases, and scientists are trying to fix that | Live Science”
efficacy and safety of garetosmab an activin a blocking antibody in fibrodysplasia ossificans progressiva optima a randomised double blind placebo controlled phase 3 trial
Original title: “Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.”
monoallelic variants in brsk1 are associated with a neurodevelopmental disorder with or without epilepsy
Original title: “Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.”
reanalysis of genomic data doubles the diagnostic yield for welsh patients recruited to the uk 100 000 genomes project
Original title: “Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project.”
pericerclage tocolytics antibiotics or their combination and risk of preterm birth a systematic review and meta analysis
Original title: “Pericerclage tocolytics, antibiotics, or their combination and risk of preterm birth: a systematic review and meta-analysis.”
data from the french daily luma cohort suggest predictors of a lumasiran response
Original title: “Data from the French Daily-Luma cohort suggest predictors of a lumasiran response.”
primary adrenal lymphoma presenting as primary adrenal insufficiency
Original title: “Primary adrenal lymphoma presenting as primary adrenal insufficiency.”
bamboo nodes retrospective study of 44 patients
Original title: “Bamboo nodes: Retrospective study of 44 patients.”
primary cns sarcoma dicer1 mutant with rhabdomyoblastic differentiation arising within the thoracic spine illustrative case
Original title: “Primary CNS sarcoma, DICER1-mutant with rhabdomyoblastic differentiation arising within the thoracic spine: illustrative case.”
more than just a gut feeling unmasking systemic mastocytosis behind chronic gastrointestinal symptoms in a 2 patient case series
Original title: “More Than Just a Gut Feeling: Unmasking Systemic Mastocytosis Behind Chronic Gastrointestinal Symptoms in a 2-Patient Case Series.”
methodological quality and risk of bias in non randomised comparative effectiveness studies of invasive mould infections a systematic review
Original title: “Methodological quality and risk of bias in non-randomised comparative effectiveness studies of invasive mould infections: a systematic review.”
glaucoma management across 13 countries in central eastern and southeastern europe an exploratory survey
Original title: “Glaucoma management across 13 countries in Central, Eastern and Southeastern Europe: an exploratory survey.”
population frequency of predicted pathogenic variants in the genes associated with autosomal dominant polycystic liver disease adpld and kidney cysts
Original title: “The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts.”
primary vulvar hpv independent adenosquamous carcinoma a case series of a rare neoplasm with an apparent predilection for the upper vulva
Original title: “Primary Vulvar HPV-independent Adenosquamous Carcinoma: A Case Series of a Rare Neoplasm With an Apparent Predilection for the Upper Vulva.”
gastrointestinal manifestation of light chain deposition disease beware of the snakeskin duodenum
Original title: “Gastrointestinal Manifestation of Light Chain Deposition Disease: Beware of the Snakeskin Duodenum.”