Gene therapy investigators can greatly benefit from the resources and services provided by the National Gene Vector Biorepository (NGVB), housed at the Indiana University School of Medicine.
Columbia scientists have provided new insights into how mutations in a gene called TBK1 cause amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disease that robs patients of movement, speech and ultimately, their lives. The researchers found that ALS-associated mutations in TBK1 can have both positive and negative effects on the progression of disease in mice genetically modified to have ALS-like symptoms.
A study by the CIBERDEM and the UAB demonstrates that high vitamin D receptor levels in pancreatic β cells improve resistance to diabetes. The research suggests that the maintenance of the vitamin D receptor expression could be a new therapeutic strategy to counteract insulin-producing pancreatic cell damage and protect against the development of diabetes.
Researchers at UCL have developed a new way to make blood stem cells present in the umbilical cord 'more transplantable', a finding in mice which could improve the treatment of a wide range of blood diseases in children and adults.
A research team led by Children's National Hospital faculty was able to 'rescue' a pre-clinical model of fetal alcohol spectrum disorder (FASD) in juvenile models, reversing motor skill deficits with the help of a novel drug derived from scorpion venom.
Researchers have used high-throughput screening of adeno-associated viral (AAV) vector capsid libraries to maximize the likelihood of obtaining AAV variants with desired properties.
Findings from a phase 2 clinical trial show that the drug selumetinib improves outcomes for children with the genetic disorder neurofibromatosis type 1 (NF1). In the trial, selumetinib shrank the inoperable tumors that develop with NF1 called plexiform neurofibromas, and children experienced reduced pain, improved function, and better overall quality of life after receiving the treatment. The trial was led by intramural researchers at the National Cancer Institute, part of the National Institutes of Health.
An international study published in the journal Cell, has described 109 genetic variants associated with eight psychiatric disorders: autism, ADHD, schizophrenia, bipolar disorder, depression, obsessive-compulsive disorder and Tourette Syndrome, in a total of about 230,000 patients worldwide.
Drug resistance is a leading cause of cancer death in children and adults with leukemia. St. Jude Children's Research Hospital scientists have developed a novel strategy to find the genes responsible.
Ocugen, Inc., a clinical-stage company focused on discovering, developing and commercializing transformative therapies to treat rare and underserved ophthalmic diseases, announced today the publication in Nature Gene Therapy of preclinical data of nuclear hormone receptor gene NR2E3 as a genetic modifier and therapeutic agent to treat multiple retinal degenerative diseases. OCU400 (NR2E3-AAV) has received two orphan drug designations.