Mutations in the GNAO1 gene are tied to neurological disorders characterized by movement abnormalities and developmental delay. GNAO1 encodes the protein guanine nucleotide-binding protein G(o) subunit α, which is highly expressed in the brain. Among the mutations, R209H results in dystonia, choreoathetosis and developmental delay without seizures.

People with the rare inherited metabolic disorder Gaucher disease have a deficiency in the lipid-digesting glucocerebrosidase enzyme, which causes the accumulation of harmful levels of glucolipids in various organs. The enzyme has a very short half-life, which rules out enzyme replacement as an effective therapy, and as things stand, there are few treatments for this and other lysosomal storage diseases (LSDs). Now, researchers have discovered two small molecules that enhance the activity of glucocerebrosidase in cellular models of LSD, pointing to a potential new approach to treating these diseases.

A new study has shown that when a gene is mutated and its copy number is altered, the risk of that gene contributing to the development of cancer increases. Although it was already known that both variations together promoted cancer, it had not been described how the link between the two leads to the progression of tumors and what implications it had on the genetics of cancer.

Kano Therapeutics Inc. announced it has secured $5 million in seed funding, bringing its total funding to date to $7.1 million. The company plans to use the funding to begin internal pipeline development of ex vivo genetic medicines based on kilobase gene insertion, expand its existing therapeutic collaborations to initiate externally driven preclinical programs, and scale its production capacity.

Actio Biosciences Inc.’s ABS-0871 has received both orphan drug designation and rare pediatric disease designation from the FDA. ABS-0871 is in preclinical development for the treatment of Charcot-Marie-Tooth disease subtype 2C (CMT2C).

A spontaneous homozygous deletion affecting the copy number of the cadherin 23 (Cdh23) gene in a line of laboratory mice gave rise to a new murine model with hereditary hearing loss and vestibular alterations.

Release Therapeutics SA has announced that it has secured CHF3.3 million (US$3.87 million) in seed funding. The proceeds will be used to finance primate studies of the company’s cell macroencapsulation technology for use in metachromatic leukodystrophy (MLD).

Meta Pharmaceuticals Inc. announced that the FDA has granted rare pediatric disease designation to its investigational new drug META-001-PH for the treatment of primary hyperoxaluria (PH), an autosomal recessive metabolic disorder in which oxalate is overproduced and deposited in the body.

Airna Corp. Inc., of Cambridge, Mass., announced it has closed an oversubscribed $60 million financing round, bringing its total series A funding to $90 million.

Innorna Co. Ltd.’s IN-016 has received orphan drug status from the U.S. FDA for the treatment of progressive familial intrahepatic cholestasis (PFIC). Earlier in July, IN-016 had been granted Rare Pediatric Disease Designation. PFIC is a group of rare genetic disorders associated with defects in bile acid secretion or transport, resulting in unwanted bile accumulation within the liver.