Long-Read Genome Sequencing Boosts Rare Disease Diagnosis, Study Finds
A new DNA test provides a more detailed view of genetic material than current standard diagnostics, leading to…
Wearables, Health-Tracking Apps Are Stressing Users, Causing Harm
Katie Anne Hayes felt like her Garmin watch was giving her a lot of valuable information, at least…
Benefits of physical activity may outweigh risks for children with some heart conditions
Statement Highlights:
With evaluation and monitoring, some physical activity may be safer than previously believed for children…
Large Study Shows Genetic Risk Results Can Be Returned to Thousands of Patients—With Caveats
A new study published in the American Journal of Human Genetics offers a look at how genetic risk…
Florida law models what genetic disease testing could be
In Florida, a new genetic disease screening program allows parents of newborns to receive free whole genome sequencing…
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
Kingsmore SF, Nofsinger R, Ellsworth K. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care…
From renal biopsy to genetic diagnosis: EYA1 mutation in branchio-oto-renal syndrome with renal insufficiency | BMC Nephrology
Zou D, Silvius D, Rodrigo-Blomqvist S, Enerbäck S, Xu PX. Eya1 regulates the growth of otic epithelium and…
4 sisters with mysterious symptoms diagnosed with the same rare brain condition |
A West Virginia family’s youngest daughter, Austyn, was diagnosed with Chiari malformation, a rare brain condition. This led…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
Genetic disease testing – what you should know before looking for bad genes | Ukrainian News
Genetic testing is becoming increasingly popular – it seems to be able to tell you everything: from the…
Building A Future Without Missed Diagnoses
Despite advances, whole genome sequencing—and with it the promise of early, life-altering therapies—still isn’t a routine part of…
Baylor Genetics Presents New Data on Clinical and
HOUSTON, Oct. 15, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…