Courtesy of NEI, NIH
Genetic Testing

Scientists unravel genetic basis for neurodegenerative disorders that affect vision

May 21, 2024
NIH-led findings point to a biomarker for rare disorders associated with the gene PNPLA6.
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Genetic Testing

New approach successfully traces genomic variants back to genetic disorders

Jan. 6, 2023
NIH study shows genotype-first approach uncovers new links to genetic conditions.
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Genetic Testing

Ohio State discovery of rare genetic mutations could lead to new cholesterol treatment

Sept. 12, 2022
Discovery could lead to a new way to treat high cholesterol.
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Genetic Testing

Genetic disease testing — how it is evolving

Aug. 24, 2022
Molecular, or genetic, pathology is a cutting-edge discipline focused on the study and diagnosis of disease through the examination of molecules within organs, tissues, or bodily...
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Genetic Testing

Mount Sinai launches large-scale genetic sequencing project with the Regeneron Genetics Center

Aug. 15, 2022
Project aims to enroll one million racially and ethnically diverse patients, advance precision medicine research, and improve patient care.
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Genetic Testing

Experimental gene therapy may reduce bleeding risk in patients with hemophilia B

July 28, 2022
Gene therapy has the potential to free patients from the challenges of having to adhere to lifelong therapy.
Genetic Testing

Genetic analysis provides insight into cause of “water on the brain”

April 21, 2022
A team led by investigators at Massachusetts General Hospital (MGH) and Yale University analyzed variations in genetic sequences and gene expression patterns in the brains of ...
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Genetic Testing

Impact of the timing of dinner and genetics on individuals’ blood sugar control

Jan. 27, 2022
Eating dinner close to bedtime, when melatonin levels are high, disturbs blood sugar control, especially in individuals with a genetic variant in the melatonin receptor MTNR1B...