The Advanced Research Projects Agency for Health (ARPA-H), an agency within the U.S. Department of Health and Human Services, has announced the teams for the THRIVE (Treating Hereditary Rare diseases with In Vivo prEcision genetic medicines) program. With a commitment of up to $160 million over 5 years, THRIVE aims to accelerate solutions for rare genetic pediatric diseases across multiple technological approaches, clinical trial designs and deployment models.
Niagen Bioscience Inc. has announced the initiation of a program targeting accelerated aging and rare genetic diseases, with the development by subsidiary NAD Pharmaceuticals Corp. of its first drug candidate, NB-4168.
Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder characterized by progressive neurodegeneration resulting from loss of arylsulfatase A (ARSA) activity. Researchers at Kazan Federal University reported preclinical efficacy data for a gene therapy candidate in a porcine model of MLD.
At the 2026 World Congress of Neuropsychopharmacology (CINP), held in Glasgow June 26-29, 2026, researchers from Japan’s National Center of Neurology and Psychiatry (NCNP) showcased how human organoid technologies are reshaping the study of neurodevelopmental vulnerability, addiction and psychiatric disorders.
Amyotrophic lateral sclerosis (ALS)-associated genes provide direct therapeutic targets and reveal pathways that can be used to develop treatments that counteract their harmful molecular effects. Because the underlying causes of most ALS cases remain unknown, identifying disease-associated variants is essential to uncover the mechanisms that drive the disease, as shown at the European Network to Cure ALS (ENCALS) meeting, held in Madrid from June 24 to 26, 2026.
Deficiencies of the enzyme β-N-acetylhexosaminidase (Hex) cause rare, autosomal recessive, fatal, neurodegenerative lysosomal storage disorders called GM2 gangliosidoses, including Tay-Sachs disease (TSD) and Sandhoff disease. Hex enzyme is a heterodimer encoded by HEXA (α subunit) and HEXB (β subunit), whose mutations result in TSD and Sandhoff disease, respectively.
Retinitis pigmentosa (RP) is an inherited retinal dystrophy that causes loss of vision. Pathogenic variants in proteins involved in RNA splicing are the second most common cause of autosomal dominant RP, with mutations in PRPF31 being the most prevalent. Additionally, mutations in spliceosomal small nuclear RNAs (snRNAs) U4 and U6 have recently been linked to RP.
Prime Medicine Inc. has obtained clearance from the New Zealand authority, Medsafe, for the company’s clinical trial application for PM-577a, an investigational Prime Editor for Wilson’s disease.
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