It is well known that mutations in the cystic fibrosis transmembrane regulator (CFTR) gene are causative of cystic fibrosis, a lethal autosomal recessive Mendelian disorder. Several studies have also pointed to an association between CFTR mutations and inflammatory bowel disease (IBD).
Polycystic ovary syndrome (PCOS) is a form of anovulatory infertility characterized by hyperandrogenemia, irregular menses and polycystic ovarian morphology. Apart from experiencing reproductive-related symptoms, women with PCOS face an increased risk of obesity, insulin resistance and type 2 diabetes.
The largest genetic analysis of abdominal aortic aneurysm (AAA) carried out to date has identified almost 100 new risk variants linked to the disorder. The study also highlighted a possible therapeutic target for this pathology that, at the moment, has no treatment. AAA affects 4% of people over 65 years of age in the U.S. and causes 41,000 deaths per year. The incidence is three to four times higher in men than in women.
Researchers from Coave Therapeutics SA presented a novel conjugated AAV (coAAV)-GBA1 candidate for the treatment of patients suffering from PD related to GBA1 mutations.
Approximately 2% to 6% of familiar dilated cardiomyopathy (DCM) cases are caused by inherited mutations in the RBM20 gene, which encodes the RNA binding motif 20 (RBM20), a splicing factor that regulates the splicing of several targets involved in the regulation of sarcomeric structure and calcium handling in the myocardium.
Investigators from Biomarin Pharmaceutical Inc. have presented the first preclinical data for BMN-293, a novel adeno-associated virus (AAV) gene transfer vector carrying the MYBPC3 gene. MYBPC3 mutations can cause hypertrophic cardiomyopathy (HCM), a heart medical condition characterized by an abnormally thick myocardium, which makes it more difficult for the heart to pump blood.
Heterozygous familial hypercholesterolemia (HeFH) is caused by mutations in the LDL receptor gene, resulting in unusually high levels of low-density lipoprotein (LDL-C) in serum. Researchers from Epigenic Therapeutics Co. Ltd. presented the discovery of an epigenetic modulation therapeutic, EPI-001, for HeFH.
Duchenne muscular dystrophy (DMD) is a disorder characterized by progressive degeneration of muscles, resulting in muscle loss, mobility limitations and lately, mortal risk. DMD is caused by mutations in the dystrophin gene (DMD) and about 80% of these are suitable for exon skipping, obtaining a functional dystrophin protein.
Fabry disease is a rare X-linked lysosomal storage disorder where a deficiency in α-galactosidase A (GLA) results in the pathological accumulation of globotriaosylceramide (Gb3 or GL-3) and other glycosphingolipids in vascular endothelial cells, nerve cells, cardiomyocytes and renal cells.
Huntington’s disease (HD) is caused by the CAG trinucleotide repeat expansion in exon 1 of the huntingtin (HTT) gene, leading to polyglutamine-expanded stretch of mutant huntingtin (mHTT) protein. Previous research has demonstrated that knockdown of HTT could represent an effective strategy for the inhibition of the formation of mHTT protein, and a recent study conducted by researchers from Huidagene Therapeutics Co. Ltd. aimed to assess the potential of high-fidelity Cas12Max (hfCas12Max)-based gene editing therapy as a novel treatment for HD.
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