Marisa Wexler, MS,  senior science writer—

Different types of mutations that cause Prader-Willi syndrome (PWS) are associated with distinct patterns of changes in the brain and psychiatric disorders, a review study highlights. “This state-of-the-art review integrates cutting-edge findings in genomics, neuroimaging, patient-derived neuronal models, and computational analytics, thus providing the most comprehensive synthesis available to…

May is Prader-Willi Syndrome (PWS) Awareness Month and the worldwide PWS community is coming together to spread awareness about the rare genetic condition. Also, May 15 is PWS Awareness Day in the U.S. The Prader-Willi Syndrome Association USA (PWSA USA) is encouraging the community to engage in…

Researchers have successfully used the gene-editing tool CRISPR to reactivate certain maternally-inherited genes that can compensate for the loss of the corresponding paternally-inherited genes in Prader-Willi syndrome (PWS). Done using lab-grown human stem cells with a PWS-causing mutation, the work showed that the one-time approach resulted in a sustained…

People with Prader-Willi syndrome (PWS) caused by a genetic deletion are significantly more likely to have pale skin, seizures, and language development delays than PWS from other types of mutations. A PWS-causing genetic deletion was also associated with a higher frequency of excessive and…

The Prader-Willi Syndrome Association USA (PWSA) has again been named a winner of the Patients at the Heart awards, an effort by Harmony Biosciences to help fund nonprofits that work for people with sleep disorders and rare neurological diseases. The award will fund PWS Sleep Within Reach…

CSTI-500, an experimental oral therapy that ConSynance Therapeutics is developing to ease symptoms of Prader-Willi syndrome (PWS), showed a favorable safety and pharmacological profile in people with the disease, according to data from a Phase 1 clinical trial. “CSTI-500 has the potential to significantly improve the lives of…

The case of a young man with Prader-Willi syndrome who developed Hoffman’s syndrome, a condition marked by muscle weakness due to reduced thyroid gland function, was described in a recent report. The patient’s muscle weakness was effectively treated with thyroid hormone replacement. The study, “Hoffman’s syndrome as the…

Children with Prader-Willi syndrome (PWS) who start on treatment with growth hormone in the first year of life tend to have more normal growth parameters like height and weight, a new study reports. “This longitudinal study showed that younger children with PWS may benefit greatly from [growth hormone] treatment…

Early treatment with Jintropin, a form of human growth hormone, was associated with improvements in cognition and appeared to slow the decline in motor function among children with Prader-Willi syndrome (PWS), a new study reports. “The present findings of this study add to the growing evidence that [human growth…

The Foundation for Prader-Willi Research has awarded a two-year, $141,444 grant to help fund the development of a patient-reported questionnaire to assess the impact of hunger for people with Prader-Willi syndrome (PWS). The project is being led by Elisabeth Dykens, PhD, a professor of psychology…