New research explores human cell-based models for studying the urea cycle, focusing on gene regulation and ureagenesis. These models aim to enhance disease modeling and therapeutic development for urea cycle disorders.

The federal agency ARPA-H earmarked $43 million for Philadelphia researchers to advance gene therapies for rare diseases. Among the recipients: gene therapy pioneer Jim Wilson and the Baby KJ team. » READ MORE: CHOP and Penn treated an infant with a rare disease by editing his genes · The funding will expand their work and bring in another CHOP researcher, Lindsey George, who develops gene therapies for bleeding disorders. » READ MORE: Feds award $22 million to Penn spinout Linnaeus Therapeutics to advance anti-aging drug · The CHOP team will focus on building a scalable gene-editing platform that can be used to treat a variety of infants and children. Their initial focus is on liver-related genetic diseases, ranging from urea cycle disorders to blood clotting diseases. “Essentially it’s the same drug, whether or not you’re targeting a genetic variant that causes a rare metabolic disease or a genetic variant that causes a rare coagulation disorder,” Ahrens-Nicklas said. The U.S. government has awarded Children’s Hospital of Philadelphia $39 million to develop a scalable platform for treating rare genetic, liver-related diseases in infants and children. The federal Advanced Research Projects Agency for Health (ARPA-H) also announced this week another $4 million for local gene therapy pioneer Jim Wilson to design gene therapies using AI at his University of Pennsylvania spinout, GEMMABio. Wilson founded academia’s first gene therapy program back in 1993 as a professor at Penn. He left in 2024 to spin out biotech start-ups dedicated to tackling rare diseases with genetic medicines.

The federal agency ARPA-H earmarked $43 million for Philadelphia researchers to advance gene therapies for rare diseases. Among the recipients: gene therapy pioneer Jim Wilson and the Baby KJ team. » READ MORE: CHOP and Penn treated an infant with a rare disease by editing his genes · The funding will expand their work and bring in another CHOP researcher, Lindsey George, who develops gene therapies for bleeding disorders. » READ MORE: Feds award $22 million to Penn spinout Linnaeus Therapeutics to advance anti-aging drug · The CHOP team will focus on building a scalable gene-editing platform that can be used to treat a variety of infants and children. Their initial focus is on liver-related genetic diseases, ranging from urea cycle disorders to blood clotting diseases. “Essentially it’s the same drug, whether or not you’re targeting a genetic variant that causes a rare metabolic disease or a genetic variant that causes a rare coagulation disorder,” Ahrens-Nicklas said. The U.S. government has awarded Children’s Hospital of Philadelphia $39 million to develop a scalable platform for treating rare genetic, liver-related diseases in infants and children. The federal Advanced Research Projects Agency for Health (ARPA-H) also announced this week another $4 million for local gene therapy pioneer Jim Wilson to design gene therapies using AI at his University of Pennsylvania spinout, GEMMABio. Wilson founded academia’s first gene therapy program back in 1993 as a professor at Penn. He left in 2024 to spin out biotech start-ups dedicated to tackling rare diseases with genetic medicines.

A recent study highlights the identification of a rare proximal urea cycle disorder in adults, triggered by an ammonia storm. This discovery may lead to improved diagnosis and management strategies for affected individuals.

Ultragenyx's gene therapy DTX301 successfully reduced ammonia levels by 18% in patients with a rare urea cycle disorder at 36 weeks, meeting one of the co-primary endpoints in its phase 3 trial. This promising result comes amid challenges for the company, including recent layoffs and a class-action lawsuit.