https://www.bioworld.com/rss en-us Researchers from the Universities of Bologna and Torino recently presented their hematopoietic stem cell gene therapy (HSC-GT) strategy based on microglia-mediated delivery using a lentiviral vector encoding a secretable, cell-penetrating CDKL5 protein (Igκ-TATk-CDKL5). http://www.bioworld.com/articles/732786 Mon, 20 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732786-cdkl5-gene-therapy-rescues-behavioral-cognitive-and-synaptic-deficits-in-cdd-mice Pediatric brain illustration Duchenne muscular dystrophy (DMD) is a progressive, genetic (X-linked recessive) neuromuscular disorder caused by mutations to the DMD gene, resulting in the dysfunction or absence of the dystrophin protein. In DMD, muscle regeneration initially depends on the proliferation and differentiation of muscle satellite cells (MuSCs), but their regenerative capacity progressively declines, making repair inefficient and contributing to muscle dysfunction. http://www.bioworld.com/articles/732628 Tue, 14 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732628-gdf5-overexpression-targets-muscs-emerging-as-potential-dmd-therapy-with-aav-microdystrophin Adenovirus cells Niagen Bioscience Inc.’s proprietary lead small-molecule drug candidate, NB-4168, has been awarded European orphan drug designation and U.S. rare pediatric disease designation for the treatment of ataxia telangiectasia. http://www.bioworld.com/articles/732626 Tue, 14 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732626-niagens-nb-4168-designated-orphan-drug-in-eu DNA illustration The Advanced Research Projects Agency for Health (ARPA-H), an agency within the U.S. Department of Health and Human Services, has announced the teams for the THRIVE (Treating Hereditary Rare diseases with In Vivo prEcision genetic medicines) program. With a commitment of up to $160 million over 5 years, THRIVE aims to accelerate solutions for rare genetic pediatric diseases across multiple technological approaches, clinical trial designs and deployment models. http://www.bioworld.com/articles/732544 Fri, 10 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732544-arpa-h-program-supports-advances-for-rare-genetic-diseases Niagen Bioscience Inc. has announced the initiation of a program targeting accelerated aging and rare genetic diseases, with the development by subsidiary NAD Pharmaceuticals Corp. of its first drug candidate, NB-4168. http://www.bioworld.com/articles/732502 Thu, 09 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732502-niagen-bioscience-unveils-nb-4168-for-ataxia-telangiectasia Illustration of enzyme wrapped around double helix Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder characterized by progressive neurodegeneration resulting from loss of arylsulfatase A (ARSA) activity. Researchers at Kazan Federal University reported preclinical efficacy data for a gene therapy candidate in a porcine model of MLD. http://www.bioworld.com/articles/732453 Tue, 07 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732453-aavolig001-arsa-shows-promise-in-preclinical-mld-study Art concept for gene therapy research MED-EL Elektromedizinische Geräte GmbH has acquired two gene therapy programs from Rescue Hearing Inc. for genetic hearing and balance disorders. http://www.bioworld.com/articles/732337 Wed, 01 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732337-med-el-acquires-gene-therapy-programs-from-rescue-hearing Hand cupping ear to illustration hearing loss At the 2026 World Congress of Neuropsychopharmacology (CINP), held in Glasgow June 26-29, 2026, researchers from Japan’s National Center of Neurology and Psychiatry (NCNP) showcased how human organoid technologies are reshaping the study of neurodevelopmental vulnerability, addiction and psychiatric disorders. http://www.bioworld.com/articles/732329 Wed, 01 Jul 2026 09:00:00 -0400 https://www.bioworld.com/articles/732329-cinp-2026-organoids-reveal-autism-and-addiction-mechanisms AI-generated image for brain organoid neural research Amyotrophic lateral sclerosis (ALS)-associated genes provide direct therapeutic targets and reveal pathways that can be used to develop treatments that counteract their harmful molecular effects. Because the underlying causes of most ALS cases remain unknown, identifying disease-associated variants is essential to uncover the mechanisms that drive the disease, as shown at the European Network to Cure ALS (ENCALS) meeting, held in Madrid from June 24 to 26, 2026. http://www.bioworld.com/articles/732185 Fri, 26 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732185-encals-2026-from-genetics-to-advancing-strategies-against-als Illustration for mutations in the DNA leading to brain diseases or neurodegenerative disorders Vascular-type bleeding disorder (BDVAS) is a rare, autosomal dominant disorder mainly caused by impaired vascular integrity. http://www.bioworld.com/articles/732118 Tue, 23 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732118-case-report-links-emapold1-em-variant-to-vascular-type-bleeding-disorder Illustration of red and white blood cells in an artery 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. 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.]]> http://www.bioworld.com/articles/732109 Tue, 23 Jun 2026 09:00:00 -0400 https://www.bioworld.com/articles/732109-csf-delivered-aav-based-gene-therapy-rescues-ocular-symptoms-in-model-of-tay-sachs-disease 3D rendering of adeno-associated viral vector 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