https://www.bioworld.com/rss en-us 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. PRPF31 being the most prevalent. Additionally, mutations in spliceosomal small nuclear RNAs (snRNAs) U4 and U6 have recently been linked to RP.]]> http://www.bioworld.com/articles/732034 Fri, 19 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732034-new-intronic-prpf31-mutation-causing-rp-can-be-targeted-with-aso Eye and DNA illustration 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. http://www.bioworld.com/articles/732030 Fri, 19 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732030-prime-medicines-pm-577a-cleared-for-clinic-for-wilsons-disease Missing puzzle piece and broken DNA chain 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). http://www.bioworld.com/articles/732026 Fri, 19 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732026-constantiam-and-cincinnati-childrens-enter-gaucher-collaboration 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. http://www.bioworld.com/articles/732012 Thu, 18 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732012-saniona-reports-preclinical-data-for-san-2668 Illustration of a child's brain 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. http://www.bioworld.com/articles/732008 Thu, 18 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732008-beam-therapeutics-beam-304-gains-ind-clearance-for-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. Genomic Psychiatry has shed some light regarding the etiology of SMIs.]]> http://www.bioworld.com/articles/732007 Thu, 18 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732007-family-genomics-reveals-shared-roots-of-mental-illness Concept art for genetic diversity. 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. http://www.bioworld.com/articles/731993 Wed, 17 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/731993-opus-genetics-advances-ocular-gene-therapies-toward-clinic Eye, DNA double helix illustration. Credit: Ernesto del Aguila III, National Human Genome Research Institute, NIH 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. UTRN gene, is an important fetal dystrophin homologue and was the focus of a recently presented study.]]> http://www.bioworld.com/articles/731991 Wed, 17 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/731991-utrn-gene-involved-in-arthrogryposis-study-finds Scientists at Columbia University have used base editing to make precise changes in the genomes of human embryos, avoiding the damage to chromosomes that occurs following two-stranded DNA cuts with conventional CRISPR/Cas9 editing. http://www.bioworld.com/articles/731851 Wed, 10 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/731851-columbia-researchers-use-base-editing-to-modify-human-embryo-genome DNA double helix under a magnifying glass Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a genetic liver disorder caused by mutations in the ABCB4 gene encoding multidrug resistance protein 3 (MCP3) in humans, a biliary phospholipid transporter. Rectify Pharmaceuticals Inc. has developed the novel compound RTY-694, a dual-acting MDR3/BSEP positive modulator that increased the protein function of both MDR3 and BSEP. ABCB4 gene encoding multidrug resistance protein 3 (MCP3) in humans, a biliary phospholipid transporter. Rectify Pharmaceuticals Inc. has developed the novel compound RTY-694, a dual-acting MDR3/BSEP positive modulator that increased the protein function of both MDR3 and BSEP.]]> http://www.bioworld.com/articles/731496 Fri, 29 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731496-rty-694-sheds-light-on-treatment-of-genetic-liver-disorder Illustration of liver with DNA double helixes Sharp Therapeutics Corp. has reported new preclinical data supporting its novel therapeutic approach for Niemann-Pick disease type C (NPC). http://www.bioworld.com/articles/731495 Fri, 29 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731495-sharp-therapeutics-identifies-lead-chemical-series-for-niemann-pick-disease Lab glassware and scientist X-linked Alport syndrome is an inherited kidney disease caused by pathogenic mutations in the COL4A5 gene. Patients develop hematuria, proteinuria and kidney function decline leading to end-stage renal disease. Nionyx Bio Inc. has developed ONYX-101, a novel kidney-targeting therapeutic designed to ensure durable COL4A5 restoration through dual-vector AAV delivery using NYX capsids that were optimized for kidney targeting. COL4A5 gene. Patients develop hematuria, proteinuria and kidney function decline leading to end-stage renal disease. Nionyx Bio Inc. has developed ONYX-101, a novel kidney-targeting therapeutic designed to ensure durable COL4A5 restoration through dual-vector AAV delivery using NYX capsids that were optimized for kidney targeting.]]> http://www.bioworld.com/articles/731296 Wed, 27 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731296-onyx-101-restores-col4a5-expression-in-x-linked-alport-syndrome Illustration of kidneys with DNA double helix Fabry disease is a lysosomal storage disease tied to the X chromosome and caused by pathogenic variants in the GLA gene encoding galactosidase A. It is characterized by progressive accumulation of galactosidase A substrates, including Gb3 and lyso-Gb3, mainly in the kidney, heart and nervous system. GLA gene encoding galactosidase A. It is characterized by progressive accumulation of galactosidase A substrates, including Gb3 and lyso-Gb3, mainly in the kidney, heart and nervous system.]]> http://www.bioworld.com/articles/731276 Tue, 26 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731276-addition-therapeutics-presents-approach-for-fabry-disease Molecules and RNA enclosed by a lipid bilayer AAV-based therapies for Duchenne muscular dystrophy (DMD) have shown efficacy, but have limitations such as poor delivery to target tissues and toxicity associated with the vector. Gemma Biotherapeutics Inc. has developed a gene therapy candidate, GB-703, which uses a new myotropic, integrin-binding AAV capsid containing a codon-optimized, deimmunized hybrid payload. http://www.bioworld.com/articles/731275 Tue, 26 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731275-gemma-biotherapeutics-gb-703-shows-promise-for-dmd Illustration of DNA double helix and motorized wheel chair Researchers at UCLA have shown that divergent neuronal signaling in fragile X mice converges on EPAC2, a druggable target whose inhibition restores circuit activity and alleviates core behavioral impairments. http://www.bioworld.com/articles/731230 Thu, 21 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731230-unmasking-the-x-epac2-shifts-the-fragile-x-landscape Red dart and target against blue sky Researchers at the University of London and collaborating institutions have developed a gene and cell therapy approach that enables sustained systemic frataxin protein delivery, improving motor performance and tissue pathology, and supporting a promising translational strategy for long-term disease stabilization in Friedreich’s ataxia patients. http://www.bioworld.com/articles/731178 Wed, 20 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731178-hspcs-delivering-tissue-penetrating-frataxin-ameliorate-friedreichs-ataxia-symptoms Stem cells A new strategy aims to improve gene therapy for Pompe disease by optimizing both the genetic component that restores the function of a deficient lysosomal enzyme and the vector that delivers it to the target tissue while avoiding the liver. The findings suggest that combining an optimized transgene with a targeted capsid could significantly enhance the effectiveness of gene therapy for Pompe disease. http://www.bioworld.com/articles/731174 Wed, 20 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731174-detargeted-targeted-gene-therapy-improves-activity-in-pompe Acid alpha-glucosidase molecular structure isolated on black Netherton syndrome is a rare disease caused by loss of activity of the lympho-epithelial Kazal-type-related inhibitor (LEKTI) protein, which in turn is caused by mutations in its encoding gene, SPINK5. This deficiency leads to the triggering of the kallikrein (KLK) signaling cascade resulting in skin barrier dysfunction, inflammation and atopy. At the recent Society for Investigative Dermatology meeting, Biocryst Pharmaceuticals Inc. presented early data on BCX-17725, a KLK5/KLK14 inhibitor fusion protein developed to restore LEKTI functioning in patients with Netherton syndrome. http://www.bioworld.com/articles/731160 Tue, 19 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731160-biocrysts-bcx-17725-as-new-approach-for-netherton-syndrome Skin anatomy and DNA Korro Bio Inc. has announced the selection of KRRO-111 as a development candidate for the treatment of alpha-1 antitrypsin deficiency (AATD), a genetic disorder most commonly caused by a single missense mutation in SERPINA1. SERPINA1.]]> http://www.bioworld.com/articles/731158 Tue, 19 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731158-korro-bio-nominates-new-candidate-for-aatd Liver and lungs Directed evolution has become a central pillar in gene therapy. This engineering strategy enables the generation of more efficient variants of genetic editors and delivery vectors. Molecular diversification methods are increasingly sophisticated and are now accelerated by machine learning and AI tools, as showcased at the 29th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) held in Boston this week. http://www.bioworld.com/articles/731119 Fri, 15 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731119-asgct-2026-directed-evolution-in-gene-therapy DNA and genome editing illustration Gene therapies rely on vectors to reach the target tissue where they act, such as adeno-associated viruses (AAVs) or lipid nanoparticles (LNPs), among other delivery strategies. Each combination is optimized for a specific cell type and indication, aiming to overcome challenges such as efficacy, specificity and toxicity. On May 13, 2026, two sessions included in the scientific symposia of the 29th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT), being held in Boston this week, addressed AAV-related toxicities, which have led to fatal cases in clinical trials and remain an area for improvement in approved therapies. http://www.bioworld.com/articles/731091 Thu, 14 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731091-asgct-2026-uncovering-the-mechanisms-of-aav-toxicity 3D illustration of adeno-associated viruses Circular RNA (circRNA) is not a new concept, but it is a novel strategy in the field of gene and cell therapy. While mRNA vaccines have revolutionized medicine, this RNA fragment without free ends surpasses their performance in both efficacy and durability, bringing it to the attention of several pioneering companies. The latest advances in circRNA presented at the 29th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT) clearly surpass the performance achieved with linear mRNA. http://www.bioworld.com/articles/731268 Wed, 13 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731268-asgct-2026-circular-rna-the-new-beast-in-gene-and-cell-therapy Illustration of a glowing circle to represent circRNA Researchers at Opus Genetics Inc. reported the efficacy of OPGx-BEST1, an AVV-based gene therapy developed to deliver a functional BEST1 transgene to retinal pigment epithelium (RPE) cells to re-establish normal BEST1 expression and activity. http://www.bioworld.com/articles/731014 Tue, 12 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731014-opgx-best1-restores-best1-expression-in-retinal-cells Test tube, dropper, DNA illustration At the European Congress of Endocrinology in Prague, researchers from Juvena Therapeutics Inc. presented the effects of JUV-161, a fusion protein consisting of human insulin-like growth factor 2 linked to human serum albumin, in preclinical models of myotonic dystrophy type 1 (DM1) and sarcopenia. http://www.bioworld.com/articles/731013 Tue, 12 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/731013-juv-161-reverses-structural-and-functional-muscle-decline Illustration of muscle anatomy Researchers from McGill University and collaborating institutions aimed to investigate whether oligonucleotides are a viable drug class to prevent hydrocephalus. http://www.bioworld.com/articles/730996 Mon, 11 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/730996-aso-therapy-prevents-hydrocephalus-in-a-monogenic-syndrome-model Illustration of brain in child with hydrocephalus CRAC channels are essential for immune and developmental processes, and dysregulation of store-operated Ca2+ entry (SOCE) has been implicated in several human diseases. Researchers from Texas A&M University and collaborators recently described the engineering of genetically encoded CRAC channel inhibitory binders (CRABs) derived from the ORAI C-terminal region, a defined STIM1-binding interface. http://www.bioworld.com/articles/730934 Thu, 07 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/730934-engineered-programmable-inhibitory-binders-to-target-crac-channelopathies Illustration of human body surrounded by DNA, cell and drug icons Elaaj Bio, a wholly owned subsidiary of the nonprofit Loulou Foundation, has entered into a partnership with Viralgen Vector Core SL to advance a gene therapy program for CDKL5 deficiency disorder. http://www.bioworld.com/articles/730904 Wed, 06 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/730904-elaaj-bio-advances-gene-therapy-for-cdkl5-deciency-disorder Concept art for gene-therapy treatment for brain Dravet syndrome is a rare, severe, lifelong developmental and epileptic encephalopathy that begins in infancy and is marked by prolonged, often fever-triggered seizures that are difficult to control. It is usually caused by mutations in the SCN1A gene and is associated with developmental delay, cognitive and behavioral impairment, and reduced life expectancy. http://www.bioworld.com/articles/730814 Mon, 04 May 2026 09:00:00 -0400 https://www.bioworld.com/articles/730814-aav9-delivered-antagonats-have-preclinical-efficacy-as-one-time-treatment-for-dravet-syndrome Brain-DNA illustration Rett syndrome (RTT) is a rare neurodevelopmental condition affecting multiple organ systems and is most often driven by mutations in the X-linked MECP2 gene. Researchers at Shanghai Duomirui Biological Technology Co. Ltd. have developed a new class of trofinetide prodrugs aimed at addressing limitations related to drug administration and pharmacokinetic properties. MECP2 gene. Researchers at Shanghai Duomirui Biological Technology Co. Ltd. have developed a new class of trofinetide prodrugs aimed at addressing limitations related to drug administration and pharmacokinetic properties.]]> http://www.bioworld.com/articles/730741 Wed, 29 Apr 2026 09:00:00 -0400 https://www.bioworld.com/articles/730741-a-new-prodrug-approach-overcomes-trofinetides-limitations Pediatric brain illustration In previous work, researchers from Kawasaki Medical School and collaborating institutions engineered a modified HEXB construct, modHexB, to improve GM2 ganglioside (GM2) recognition and GM2-activating protein (GM2A) interaction. The team has now combined these previous advancements to develop a new gene therapy strategy for Sandhoff disease. http://www.bioworld.com/articles/730698 Mon, 27 Apr 2026 09:00:00 -0400 https://www.bioworld.com/articles/730698-single-gene-therapy-for-lsds-with-modified-lysosomal-enzyme-shows-preclinical-efficacy Neurons