PTC Therapeutics, Inc. (NASDAQ: PTCT) today shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 American College of Medical Genetics ...

Phenylketonuria occurs when there is a mutation of the PAH gene, which produces the enzyme responsible for the breakdown of phenylalanine called phenylalanine hydroxylase. Without enough ...

PTC Therapeutics (PTCT) shared new data being presented from the Phase 3 APHENITY trial and subsequent open-label extension study at the 2025 ...

PKU and normal haplotypes clearly show a substantial ... too simple and needs to be improved by integrating information on mutation rates and crossing-over probabilities as soon as they become ...

A wild cat with one of the rarest coat colors ever documented has been spotted in the U.S. leaving wildlife researchers stunned and raising questions about genetic mutations and environmental factors ...

Learn more about whether PTC Therapeutics, Inc. or Sarepta Therapeutics, Inc. is a better investment based on AAII's A+ ...

Many of the surviving microbes, she discovered, had developed similar mutations independently ... to improve the efficacy of a treatment for phenylketonuria and perhaps of other EcN therapeutics ...

Rare disease day is observed on 28 February. Credit: nambitomo via Getty Images. US-based biotechnology company Alltrna is developing transfer RNA (tRNA)-based therapies that aim to offer a broad ...

Today, leukemia patients undergo genetic analysis to identify mutations and select the most appropriate treatment. However, even among patients with the same mutation, disease progression and ...

Synthetic biology specialist Synlogic will start phase 3 testing of a drug for rare metabolic disorder phenylketonuria (PKU) next year, after reporting solid proof-of-concept data.