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

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’…

Better treatment for rare diseases needed via compassionate use

Most people with rare diseases given an experimental therapy through compassionate use programs show clinical benefits, and most of these treatments ultimately end up getting approved, according to a review study. Based on these findings, the researchers argued that such programs — allowing certain patients with limited options access to…

Scientist: AADC deficiency can cause neurodegeneration in brain

Although AADC deficiency is characterized by low levels of signaling molecules in the brain that impair its normal function, the disease may also cause neurodegeneration, a study suggests. Understanding how the disease may result in the gradual dysfunction, and ultimately death, of brain nerve cells could open up new…

PTC, FDA to meet in December to discuss path to Upstaza approval

PTC Therapeutics will meet with the U.S. Food and Drug Administration (FDA) in December to review the data the company intends to include in a regulatory application seeking the approval of its gene therapy Upstaza (eladocagene exuparvovec) for aromatic l-amino acid decarboxylase (AADC) deficiency. The meeting is expected…

Enzyme study may bring insights into AADC deficiency’s causes

The AADC enzyme can undergo a process called phosphorylation at a specific molecular site to increase its activity, a study shows. These findings provide deeper insight into the functionality of this enzyme, and may help scientists to better understand the effects of certain specific mutations that cause AADC deficiency.

FindZebra rare disease search engine enhanced by new AI tool

A new artificial intelligence (AI) tool — OpenAI’s GPT application programming interface (API) — has been integrated into FindZebra, an online search engine that aims to make it easier to find information about, and thereby diagnose, rare diseases. OpenAI’s GPT API is an innovative deep-learning tool that uses artificial…

AAN 2023: Children reaching motor milestones 10 years after Upstaza

Children with aromatic L-amino acid decarboxylase (AADC) deficiency are continuing to experience motor function gains up to 10 years after receiving a single dose of PTC Therapeutics’ gene therapy Upstaza (eladocagene exuparvovec), new clinical trial data show. Alexis Russell, PTC’s senior medical director, discussed the findings during…