Skip to main content
Premium Trial:

Request an Annual Quote

My Gene Counsel, Foundation for Prader-Willi Research Partner on Genetic Testing Study

NEW YORK — Digital health company My Gene Counsel said on Thursday that it has signed an agreement to help the Foundation for Prader-Willi Research, or FPWR, provide genetic testing results to Prader-Willi syndrome patients participating in a genome sequencing study.

Prader-Willi is a genetic disorder characterized by a range of symptoms that can include lack of satiety cues, low metabolic rate, and intellectual disability. Earlier this year, the FPWR launched a study using patients' whole-genome and RNA sequencing data to identify genetic variants that affect the range and severity of Prader-Willi, as well as treatment responses.

Under the agreement, My Gene Counsel will help the FPWR safely and responsibly provide study results about pathogenic gene variants to participants. My Gene Counsel said it will provide genetic counseling to these patients to help them understand the findings, as well as an electronic report detailing how the results relate to disease risk and medical management options, among other things.

Additional terms of the arrangement were not disclosed.

"Offering rare disease communities … genetic testing will push research forward," Ellen Matloff, CEO of My Gene Counsel, said in a statement.

In late 2020, New Haven, Connecticut-based My Gene Counsel partnered with Genomet to provide digital decision support solution for cancer clinicians.

The Scan

Purnell Choppin Dies

Purnell Choppin, a virologist who led the Howard Hughes Medical Institute, has died at 91, according to the Washington Post.

Effectiveness May Decline, Data From Israel Suggests

The New York Times reports that new Israeli data suggests a decline in Pfizer-BioNTech SARS-CoV-2 vaccine effectiveness against Delta variant infection, though protection against severe disease remains high.

To See Future Risk

Slate looks into the use of polygenic risk scores in embryo screening.

PLOS Papers on Methicillin-Resistant Staphylococcus, Bone Marrow Smear Sequencing, More

In PLOS this week: genomic analysis of methicillin-resistant Staphylococcus pseudintermedius, archived bone marrow sequencing, and more.