Tag: Genetics
Internet Self-Referrals Aid in Diagnosis of Rare Inherited Kidney Disease
Twenty-four percent of direct family referrals to specialist center had positive genetic testing
Hematological Malignancy Risk Up for First-Degree Relatives
Increased familial relative risks for the same tumor type for most hematological malignancies
Trial Tests CRISPR Gene-Editing to Treat Sickle Cell Disease
Study seeks to recruit up to 45 adults with severe sickle cell disease
First U.S. Trial Using CRISPR Within the Body Set to Begin
Researchers will attempt to give patients with Leber congenital amaurosis a healthy version of the gene they lack
Most Women Do Not Regret Genetic Testing Before IVF
Some level of regret is common, but women are overwhelmingly satisfied with decision
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
Polygenic Risk Score Reliably Predicts Coronary Artery Disease
PRS predicts prevalent CAD but does not perform as well for predicting incident, recurrent CAD
Specialized Programs in Clinical Cardiovascular Genetics Needed
New cardiovascular subspecialist, genetic cardiologist, needed to interpret genetic variation
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
Blood Donor Screening Data IDs Familial Hypercholesterolemia
Highest estimated prevalence of FH seen in young versus older donors, and in men versus women
