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Metagenomic next-generation sequencing of cerebrospinal fluid obtained from patients with meningitis or encephalitis can improve diagnosis of neurologic infections

Next-Gen Sequencing of CSF Improves Diagnosis of CNS Infections

Eight of 13 diagnoses made solely by metagenomic NGS had likely clinical effect, seven guided treatment
Genome-wide polygenic risk scores can predict coronary artery disease

Polygenic Risk Score Reliably Predicts Coronary Artery Disease

PRS predicts prevalent CAD but does not perform as well for predicting incident, recurrent CAD
The importance of establishing specialized clinical cardiovascular genetics programs is addressed in an American Heart Association scientific statement published online May 23 in Circulation: Genomic and Precision Medicine.

Specialized Programs in Clinical Cardiovascular Genetics Needed

New cardiovascular subspecialist, genetic cardiologist, needed to interpret genetic variation
The vast majority of people at risk for Huntington disease choose not to be tested preemptively

Most At-Risk Opt Out of Genetic Testing for Huntington Disease

Lack of cure, inability to 'undo knowledge' primary reasons for not going through with testing
Data from a blood donor screening program could represent a novel strategy for identifying familial hypercholesterolemia

Blood Donor Screening Data IDs Familial Hypercholesterolemia

Highest estimated prevalence of FH seen in young versus older donors, and in men versus women
A new test can predict the course of inflammatory bowel disease in patients

Biomarker Test Predicts Mild, Serious IBD in Newly Diagnosed

Test based on genetic signature of CD8 T cells during active disease
Progress has been made toward developing diagnostic criteria for limbic-predominant age-related TDP-43 encephalopathy

Diagnostic Criteria Proposed for Advanced-Age Proteinopathy

Gaps remain in understanding of limbic-predominant age-related TDP-43 encephalopathy
Rare variants have been identified in the DENND1A gene that are associated with hormonal traits of polycystic ovary syndrome

Rare Variants Identified in DENND1A Gene in PCOS

Variants are associated with reproductive and metabolic traits in PCOS families
A machine learning process and clinical natural language processing can rapidly diagnose rare genetic diseases

Machine Learning Can Speed Diagnosis of Genetic Diseases in Children

Automated, retrospective diagnoses concurred well with expert manual interpretation
Guidance has been updated for the health supervision of children with neurofibromatosis type 1

AAP Updates Guidance for Care in Neurofibromatosis Type 1

Report describes criteria for diagnosis, role of genetic testing, possible health manifestations