A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

ELX-02 treatment improved podocyte foot process effacement in all three patients by an average of 60% based on a blinded kidney biopsy analysis by NIPOKA GmbH Biopsy results support clinical benefit ...

A novel nonsense variant in RTEL1 gene contributes to familial pulmonary fibrosis, emphasizing telomere-related gene mutations in interstitial lung disease. Genetic testing is essential for diagnosing ...

Almirall is handing over $3 million for Eloxx Pharmaceuticals’ molecule aimed at a pair of rare skin diseases and potentially more just before the drug enters the clinic. The candidate in question is ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only ...

A newly developed AI can predict which diseases specific genetic mutations are likely to cause, not just whether they are ...

A new paper from the laboratory of David Liu, PhD, at the Broad Institute describes a genome-editing strategy that could result in a one-time treatment for multiple unrelated genetic diseases. The new ...

A team of researchers at the Broad Institute, led by gene-editing pioneer David Liu, has developed a new genome-editing strategy that could potentially lead to a one-time treatment for multiple ...

Premature termination codons (PTCs) account for 10 to 20% of genetic diseases in humans. The gene inactivation resulting from PTCs can be counteracted by the use of drugs stimulating PTC readthrough, ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...