AT-rich interactive domain-containing protein 1A (ARID1A) encodes a switch/sucrose nonfermentable (SWI/SNF) complex and is mutated in around 10% of colorectal cancers. ARID1A deficiency damages DNA damage repair increasing tumor mutation burden in ovarian and gastrointestinal cancers.

The detection of metastases in Merkel cell carcinoma (MCC) requires additional testing, such as pancytokeratin (panCK) or CK20, with no guarantee of success. Recent findings have identified transcription factor SOX11 and insulinoma-associated protein 1 (INSM1) as sensitive nuclear neuroendocrine markers, but their usefulness in MCC has not been proven.

Resvita Bio Inc.’s RVB-003 has been awarded orphan drug designation by the FDA for the skin disorder Netherton syndrome. RVB-003 was previously granted rare pediatric disease designation.

Spark Therapeutics Inc. has presented a proprietary adeno-associated viral (AAV) vector expressing an artificial miRNA targeting human α-synuclein (α-Syn) mRNA. Accumulation of misfolded and insoluble α-Syn causes neuronal toxicity in preclinical models and has been identified as the underlying cause of synucleinopathies.

Combating Antibiotic-Resistant Bacteria Biopharmaceutical Accelerator (CARB-X) will award Arrepath Inc. $3.7 million to execute a lead optimization workplan for its first-in-class antibiotic targeting a clinically novel target for the treatment of complicated urinary tract infections caused by multidrug-resistant Enterobacterales.

Variant SAS and the Rare Ocular Diseases Center at the University of Campania Luigi Vanvitelli (UCLV) have received positive feedback from the EMA for VAR-002, a recombinant AAV vector gene therapy targeting inherited retinal dystrophies linked to CRX mutations.

Although the causes of polycystic ovary syndrome (PCOS) are unclear, researchers know this condition leads to endometrial dysfunction in women who have hormonal imbalances, and insulin resistance. Now, a study led by scientists at the Karolinska Institutet in Sweden has revealed the cellular and genetic differences that distinguish this disorder in the first atlas of the human endometrium during the proliferative phase of the menstrual cycle.