• abnormalities
  • citation needed] Since abnormalities of cilia are known to be related to a wide range of disease symptoms including those commonly seen in BBS patients, it is now widely accepted that mutated BBS genes affect normal cilia function, which, in turns, causes BBS. (wikipedia.org)
  • In some cases, affected individuals may have droopy upper eyelids (ptosis), rapid, involuntary eye movements (nystagmus), and abnormalities of the thin membrane that lines the back of the eyes (retina) and the main nerve that sends electrical impulses from the retina to the brain (optic nerve). (rarediseases.org)
  • Skeletal abnormalities may occur in some cases including abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), a narrow cervical spinal canal, or underdevelopment (hypoplasia) of certain bones of the fingers or toes resulting long, tapered fingers and abnormally short toes especially the fourth and fifth toes. (rarediseases.org)
  • For example, defects of various lysosomal proteins in patients with neuronal ceroid lipofuscinosis (MIM no. 256730) have a wide range of neurological and behavioral abnormalities as well as retinal degeneration ( 4 ). (pubmedcentralcanada.ca)
  • syndrome
  • Females who carry a single copy of the disease gene (heterozygous carriers) may develop some variable features of the disorder, however, in some instances they can have features similar to the affected males (i.e. be considered as affected with the syndrome). (rarediseases.org)
  • Börjeson-Forssman-Lehmann syndrome has been considered to be fully expressed only in males given the X-chromosome localization of the responsible gene (see below). (rarediseases.org)
  • Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is caused by mutations in the CNNM4 gene. (jove.com)
  • Similar cases can be seen in other genetic disorders such as Wolfram syndrome (MIM no. 222300), hyper-IgD syndrome (MIM no. 260920) ( 6 ) and a series of ciliopathies ( 7 ). (pubmedcentralcanada.ca)
  • disorders
  • Researchers are also testing gene therapy for other causes of blindness and blood disorders such as sickle cell disease. (wnmufm.org)
  • Systems biologists are endeavoring to define functional modules containing multiple genes and then look at disorders whose phenotypes fit into such modules. (wikipedia.org)
  • Thereafter, we will discuss efforts to model retinal disorders with hPSCs and present challenges that face investigators who aspire to use such systems to study disease pathophysiology and/or screen for therapeutics. (arvojournals.org)
  • 2017
  • Luxturna is the United States' first approved gene therapy for treatment of an inherited disease, and its approval comes ahead of the January 2018 target date set by FDA when it granted Priority Review for Spark Therapeutics' Biologics License Application in July 2017. (biologicsblog.com)
  • The agency's announcement also follows FDA's approval of two other gene therapy products earlier this year, each to treat a certain form of cancer: Novartis' Kymriah (tisagenlecleucel), approved on August 30, 2017, and Gilead Sciences' Yescarta (axicabtagene ciloleucel), approved on October 18, 2017. (biologicsblog.com)
  • disease gene
  • Females who carry the disease gene for BFLS were considered to be much less severely affected and develop only some symptoms of the disorder, generally a milder form of BFLS seen in the affected males. (rarediseases.org)
  • cells
  • Present results in the gene editing of hematopoietic stem cells. (intechopen.com)
  • Apart from the proper design of the nucleases to recognize and cut the selected site in the cell genome, two main goals need to be adequately addressed to optimize its function: the delivery of the tools into the desired cells and the selection of those where the gene editing process has occurred correctly. (intechopen.com)
  • However, both steps are critical in the case of primary cells, such as the hematopoietic stem cells (HSCs). (intechopen.com)
  • once in the eye, the virus transports the curative DNA to retinal cells which then begin producing the crucial enzyme. (biologicsblog.com)
  • Rather, white blood cells called T-cells are collected from the patient's body and then modified with a protein-encoding gene. (biologicsblog.com)
  • According to Regenerative Sciences and the statute's text, the newly approved gene therapies also are likely to meet the statutory definition of biologics: Kymriah and Yescarta involve the manipulation of cells removed from and reinserted into a person's blood, and Luxturna relies on a virus to serve as a DNA transporter. (biologicsblog.com)
  • Taken together, our work identifies a novel disease-causing gene for RP and indicates that proper protein O-mannosylation is not only essential for early organ development, but also important for maintaining survival and function of the highly specialized retinal cells at later stages. (pubmedcentralcanada.ca)
  • tissues
  • Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. (jove.com)
  • splice site
  • To understand how this complexity is generated and regulated, we are studying how the selection of splice site occurs in Bcl-x, a gene whose splicing products decide if a cell lives or dies. (usherbrooke.ca)
  • genetic
  • The genetic etiology of RP is highly heterogeneous, with at least 79 disease-causing genes identified (RetNet, https://sph.uth.edu/retnet/ ). (pubmedcentralcanada.ca)
  • therapy
  • Gene therapy, which has had a roller-coaster history of high hopes and devastating disappointments, took an important step forward Thursday. (wnmufm.org)
  • I will forever be grateful for receiving gene therapy. (wnmufm.org)
  • This would be the first approved treatment of any sort for this condition and the first approved gene therapy treatment for the eye, in general," Yang says. (wnmufm.org)
  • So, on multiple fronts, it's a first and ushers in a new era of gene therapy. (wnmufm.org)
  • Gene therapy has arrived, and FDA is regulating these products as biologics, giving them twelve-year non-patent exclusivity. (biologicsblog.com)
  • Gene therapy offers exciting possibilities but it is also expensive. (biologicsblog.com)
  • 42 U.S.C. § 262(k)(7)(A). FDA has regulated gene therapies like other biologic products, includes gene therapy in its own definition of "biologics," and has already listed Yescarta and Kymriah in the so-called Purple Book, FDA's compilation of products it has licensed under the PHSA. (biologicsblog.com)
  • The PHSA does not explicitly list gene therapy as a biologic product. (biologicsblog.com)
  • There is a collected level of evidence that shows that applied electrical therapy induces neuroprotection in retinal degenerations by fascinating releasing of endogenous growth factors (e.g. brain-derived neurotrophic factor, ciliary neurotrophic factor). (restore-vision.com)
  • occur
  • Here we review evidence from mRNA analysis and entire genomic sequencing indicating that pathogenic mutations can occur deep within the introns of over 75 disease-associated genes. (springer.com)
  • function
  • While expression profiling of cancer has provided clues about key genes involved in tumourigenesis, there is clearly a need for new investigations that will map with more precision the topology of this disease, link disease-specific gene expression patterns to oncogenic function, and offer new avenues for diagnosis, treatments and follow-up. (usherbrooke.ca)
  • treatment
  • Therefore, this biocompatible and biodegradable amelogenin-chitosan hydrogel shows promise as a biomaterial for the prevention, restoration, and treatment of defective enamel. (jove.com)
  • efforts
  • Important efforts are now ongoing trying to optimize the protocols of gene delivery and selection for HSCs. (intechopen.com)
  • affect
  • Our objectives are to determine (i) whether the intrinsic instability of VNTRs has a permanent effect on alternative splicing, and (ii) whether induced genomic instability preferentially acts on VNTRs to affect the alternative splicing of the genes that harbor them. (usherbrooke.ca)
  • lead
  • Consistent with this, artificially extending the larval period by delaying metamorphosis does not in most cases lead to disc overgrowth. (genetics.org)
  • cell
  • The availability of these tools has allowed a precise gene editing, such as knockout of a specific gene or the correction of a defective gene by means of homologous recombination (HR), taking advantage of the endogenous cell repair machinery. (intechopen.com)
  • Luxturna differs from Kymriah (developed to treat a form of pediatric leukemia) and Yescarta (developed to treat a form of lymphoma), both of which are CAR T-cell based gene therapies. (biologicsblog.com)
  • Addition
  • In addition, electroretinograms (ERG) were measured and retinal morphology was examined by standard histology, immunocytochemistry, TUNEL assay, and electron microscopy. (arvojournals.org)