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

Patients often responsible for communication between their MDs

People living with rare diseases frequently end up being responsible for communication between their healthcare providers, a new study from Germany highlights. The finding “supports the need for establishing structures to unburden patients and caregivers from long distance travelling and being responsible for organizing their own healthcare,” researchers wrote in…

Upstaza, one-time gene therapy, under FDA review for approval

The U.S. Food and Drug Administration (FDA) has agreed to review an application seeking the approval of Upstaza (eladocagene exuparvovec), PTC Therapeutics’ one-time gene therapy for AADC deficiency. The FDA placed the company’s application under priority review, which shortens the review period to about six months from…

Mississippi establishes rare disease advisory council

Mississippi Gov. Tate Reeves has signed into law a bill that establishes a rare disease advisory council (RDAC) in the state. “I was proud to sign Senate Bill 2156 into law,” Reeves said in a press release from the National Organization for Rare Disorders (NORD). “Our state remains…

Unusually mild case of AADC deficiency reveals new mutation

Genetic testing done for a 55-year-old woman diagnosed with an unusually mild case of AADC deficiency revealed a disease-causing gene mutation never before reported, according to researchers. The newly identified mutation, while indeed found to be a cause of the patient’s genetic disease, still allowed for the relatively preserved…

Experts offer new guidance for patient care after Upstaza

Following gene therapy, people with AADC deficiency should receive a few weeks of intensive physical therapy, with additional physical therapy and age-appropriate rehabilitative support in the months and years that follow. That’s according to new recommendations put forward in a paper, “A position statement on the…

Girl with seizures found to have mild AADC deficiency: Report

Researchers say childhood epilepsy and mild attention deficits were effectively “hiding” a case of mild aromatic l-amino acid decarboxylase (AADC) deficiency in a teenage girl, according to a new case report. “In this study, we describe a 13-year-old girl with late-onset, mild, and atypical AADC deficiency diagnosed ‘by chance’…