Erectile dysfunction may precede rare genetic brain disease by years, case series suggests
A retrospective case series of four male patients found that unexplained erectile dysfunction was the earliest symptom of NOTCH2NLC-related neuronal ...
Tag: Genetic Testing
Alport Spectrum Study Finds Genetic Test Results Alone Fail to Predict Kidney Disease Progression
A retrospective cohort of 91 adults with Alport syndrome or thin basement membrane nephropathy found that genetic test results did ...
Structured Training Framework Developed to Strengthen Variant Scientist Workforce in Clinical Genomics
A nationwide survey of practicing variant scientists guided the development of a structured, competency-based curriculum designed to standardize clinical genomics ...
One in five men with breast cancer carries inherited cancer gene variants
A Brazilian multicenter study of 106 men with breast cancer found pathogenic germline variants in 22% of those tested, led ...
Two Heart Disease Genes in One Family: Case Report Reveals Genetic Complexity of Dilated Cardiomyopathy
A 40-year-old woman with severe non-ischemic dilated cardiomyopathy carried likely pathogenic variants in both BAG3 and FLNC, a combination her ...
Novel UMOD Variant Linked to Rare Inherited Kidney Disease in Young Man
A novel UMOD variant classified as likely pathogenic was identified in a 25-year-old man and his affected relatives with autosomal ...
Short Telomeres Fail to Separate Inherited from Acquired Aplastic Anemia
A prospective study of 305 patients with aplastic anemia found that qPCR-based telomere length analysis cannot distinguish inherited from acquired ...
Rare WT1 Gene Variant Drives Infant Kidney Failure in Unusual Case Report
A newly published case report describes a male infant with steroid-resistant nephrotic syndrome, cryptorchidism and kidney failure linked to an ...
Rare Sterol Disorder Unmasked as Unexplained Cytopenias in Six Patients
A case series of six patients shows sitosterolemia often presents as unexplained cytopenias with stomatocytes and giant platelets, and responds ...
Rare Genetic Spastic Paraplegia Case Shows Complete Loss of Dopamine Transporter Binding on Brain SPECT
A single-case report describes a 46-year-old woman with spastic paraplegia type 7 whose FDG PET showed subtle striatal hypometabolism while ...
Host Genomics Could Reshape How Doctors Diagnose Immune Disorders and Treat Infections
More than 30 experts outline how patients' germline genomes could improve infectious disease care, from detecting rare immune disorders early ...
Genetic Testing Could Reshape Emergency Prescribing, but the Evidence Is Not There Yet
A new perspective argues that pharmacogenomic testing could improve emergency department prescribing, but no randomized controlled trials have yet tested ...
Imaging, genetics and myosin inhibitors reshape hypertrophic cardiomyopathy care
A new review in Cardiovascular Ultrasound synthesizes how advanced imaging, genetic testing and cardiac myosin inhibitors are transforming the diagnosis ...
Rare MSH2 Variant Linked to Three Cancers in One Lynch Syndrome Patient
A Frontiers in Oncology case report documents a 62-year-old woman carrying the known pathogenic MSH2 p.A230Lfs*16 germline variant who developed ...
Genes Behind a Rare Heart-Filling Disorder Point Toward Personalized Care
Whole-exome sequencing of 568 cardiomyopathy patients found pathogenic variants in nearly three-quarters of those with restrictive filling physiology, with MYBPC3, ...
Rare LAMP2 Variants Behind Severe Heart Disease in Two Young Women Misdiagnosed as Amyloidosis
A case report describes two Chinese women with severe Danon disease initially suspected of cardiac amyloidosis, diagnosed through biopsy and ...
Insurance expansion shortened time to BRCA testing and facilitated preventive strategies: a single-center cohort study in Japan
A retrospective Japanese cohort study associated expanded insurance coverage for BRCA testing with a median testing interval of 54 days ...
Peruvian cancer families navigate genetic testing through faith and community support
A qualitative study of 15 Peruvians found that hereditary cancer testing and diagnosis were shaped by faith, family networks, community ...
Family communication and education associated with hereditary cancer testing uptake
A cross-sectional study found that 36.16% of at-risk relatives underwent family-specific genetic testing, with uptake independently associated with education, family ...
Case Report Identifies New TCEB1 Variant in Rare Kidney Cancer
A 2026 single-patient case report identifies a previously unreported p.Y76C variant in ELOC (TCEB1)-mutant renal cell carcinoma in a 52-year-old ...
