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.
Constantiam Biosciences Inc. and Cincinnati Children’s have established a strategic collaboration, through an exclusive option for future licensing rights, to advance first-in-class small-molecule treatments for neuronopathic Gaucher disease (types 2 and 3).
Saniona AB has presented preclinical data and its clinical development strategy for its lead clinical candidate, SAN-2668, which is a GABA-A receptor positive allosteric modulator under development for the treatment of severe pediatric epilepsies.
Beam Therapeutics Inc. has obtained IND clearance from the FDA for BEAM-304 for the treatment of phenylketonuria (PKU). BEAM-304 is a liver-targeting lipid-nanoparticle (LNP) formulation of base editing reagents designed to correct mutations in the phenylalanine hydroxylase (PAH) gene that cause PKU.
Schizophrenia (SZ), bipolar disorder (BP), major depression (MDD) and autism spectrum disorder (ASD) are serious mental illnesses (SMIs) that affect a significant proportion of the worldwide population. Large genome-wide association studies have pointed to overlapping genetics including both common and rare variants as cause of these SMIs. A recent study published on June 16, 2026, in Genomic Psychiatry has shed some light regarding the etiology of SMIs.
Opus Genetics Inc. is advancing a pipeline of gene therapies to restore vision and prevent blindness in patients with inherited retinal diseases, with three programs expected to enter clinical testing over the next 12-18 months.
Arthrogryposis multiplex congenita (AMC) is a group of disorders defined by two or more contractures in different body areas; while genes encoding sarcomeric proteins are usually involved in its pathogenesis, the role of the dystrophin complex is not well studied in AMC. Utrophin, encoded by the UTRN gene, is an important fetal dystrophin homologue and was the focus of a recently presented study.
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