Marisa Wexler, MS, senior science writer —

Marisa holds a Master of Science in cellular and molecular pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. Her areas of expertise include cancer biology, immunology, and genetics, and she has worked as a science writing and communications intern for the Genetics Society of America.

Articles by Marisa Wexler

NIH Grants $3.8M to Improve Newborn Screening for 3 Diseases

Scientists at the University at Buffalo (UB) in New York have received a five-year $3.8-million grant to develop methods to improve the accuracy of newborn screening for Pompe disease and two other rare genetic disorders. The project, “Enhancement of Newborn Screening Diagnostic Paradigms to Improve the Efficacy of…

LOPD Diagnosis of Newborns Requires Support for Parents

Parents of children with late-onset Pompe disease (LOPD) that is identified via newborn screening report not receiving enough information, guidance, and support, which leads to feelings of frustration and anxiety. That’s according to the study “Newborn screening for Pompe disease: Parental experiences and follow-up care for…

Brain Blood Flow Changes May Be Complication of LOPD

A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…

Substrate Reduction Therapy ABX1100 Named FDA Orphan Drug

ABX1100, an experimental substrate reduction therapy that Aro Biotherapeutics is developing for Pompe disease, has been granted an orphan drug designation by the U.S. Food and Drug Administration (FDA). The FDA gives this designation to investigational treatments designed to improve care for rare diseases affecting fewer than…

Europe OKs Nexviadyme for Infantile- and Late-onset Disease

The European Commission has approved the next-generation enzyme replacement therapy Nexviadyme (avalglucosidase alfa) to treat both late-onset and infantile-onset Pompe disease. This is the first time a new treatment for Pompe has been approved in Europe since 2006, according to Nexviadyme’s developer Sanofi Genzyme. “For more than…