• protein
  • This gene encodes a protein localized to the cytoplasm. (nih.gov)
  • VMD2 gene, also known as the BEST1 gene, codes for a protein called bestrophin. (els.net)
  • PRPH2 gene codes for a protein called peripherin. (els.net)
  • This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. (genecards.org)
  • NBAS (Neuroblastoma Amplified Sequence) is a Protein Coding gene. (genecards.org)
  • Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID - 5T5N/4RDQ). (wikipedia.org)
  • The location of expression of the BEST1 gene is essential for protein functioning and mislocalization is often connected to a variety of retinal degenerative diseases. (wikipedia.org)
  • In addition to this sensory role mediating specific signaling cues, cilia play "a secretory role in which a soluble protein is released to have an effect downstream of the fluid flow" in epithelial cells, and can of course mediate fluid flow directly in the case of motile cilia. (wikipedia.org)
  • The ALMS1 gene encodes instructions for making a protein with an unknown function. (wikipedia.org)
  • The ALMS1 gene contains instructions to encode a specific protein known as ALMS1. (wikipedia.org)
  • The VMD2 gene provides instructions for making a protein called bestrophin. (wikipedia.org)
  • The RDS gene provides instructions for making a protein called peripherin. (wikipedia.org)
  • It is caused by a combination of mutations (compound heterozygosity) in the CDH3 gene, which codes for Cadherin-3 (also known as P-Cadherin), a calcium-binding protein that is responsible for cellular adhesion in various tissues. (wikipedia.org)
  • PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae), also known as PRPF31, is a protein which in humans is encoded by the PRPF31 gene. (wikipedia.org)
  • While the function of the LAMP2 gene is not well understood, it is known that LAMP2 protein is primarily located in small structures within cells called lysosomes. (wikipedia.org)
  • ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene. (wikipedia.org)
  • optical coherence
  • A correct diagnosis of the early-onset childhood retinal dystrophies requires careful clinical evaluation, the detection of suggestive or pathognomonic ophthalmoscopic clues, the use of electrophysiology to document characteristic electroretinographic findings and, in some cases, the utilisation of newer diagnostic modalities such as optical coherence tomography. (bmj.com)
  • disorders
  • Researchers are also testing gene therapy for other causes of blindness and blood disorders such as sickle cell disease. (ksmu.org)
  • Andréasson S (2006) Developments in molecular genetics and electrophysiology in inherited retinal disorders. (els.net)
  • Systems biologists are endeavoring to define functional modules containing multiple genes and then look at disorders whose phenotypes fit into such modules. (wikipedia.org)
  • As other retinal disorders, PRA can be divided into either dysplastic disease, where the cells develop abnormally, and degenerative, where the cells develop normally but then degenerate during the dog's lifetime. (wikipedia.org)
  • Research within the Krembil is directed at the development of treatments for neurodegenerative diseases (Alzheimer's disease, Parkinson's disease), epilepsy, stroke, brain tumours, concussions, spinal cord injuries, neurophthalmologic and other ocular disorders, multiple sclerosis and autoimmune disorders. (wikipedia.org)
  • At the Krembil, neuroscientists explore the function of the nervous system as they develop treatments for neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease, epilepsy, spinal cord injuries, cerebral ischemia (stroke), vascular brain malformations, aneurysms, brain tumours and pain disorders. (wikipedia.org)
  • cilia
  • The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. (wikipedia.org)
  • The gene products encoded by these BBS genes, called BBS proteins, are located in the basal body and cilia of the cell. (wikipedia.org)
  • citation needed] A theory that photoreceptor cells are nourished by the IFT of retinal cilia now offers a potential explanation for the retinal dystrophy common in BBS patients after their early years of life. (wikipedia.org)
  • genetically
  • The FDA recently approved the first so-called gene therapy product, which uses genetically modified cells from the immune system to treat a form of leukemia. (ksmu.org)
  • We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. (hindawi.com)
  • hepatic
  • Multiple hepatic tumors has also been reported in some cases. (wikipedia.org)
  • high-arched palate Cardiovascular anomalies Hepatic involvement Anosmia Auditory deficiencies Hirschsprung disease The detailed biochemical mechanism that leads to BBS is still unclear. (wikipedia.org)
  • blindness
  • Glen of Imaal Terrier - CRD3 results in gradual blindness with onset around 4 years of age (often detectable as retinal thinning as early as 3 years of age). (wikipedia.org)
  • Robert E. MacLaren FRCOphth FRCS FACS VR is a British ophthalmologist who has led pioneering work in the treatment of blindness caused by diseases of the retina. (wikipedia.org)
  • proteins
  • The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. (wikipedia.org)
  • Among these, 13 genes encode proteins of the electron transport chain (abbreviated "ETC"), 22 encode transfer RNA (tRNA), and two encode the large and small subunits that form ribosomal RNA (rRNA). (wikipedia.org)
  • progressive
  • Vitelline macular dystrophy (also known as Best disease) is a progressive, chronic disease of the macula (central retina) at the back of the eye. (els.net)
  • Alpers' disease a rare disease of young children, characterized by neuronal deterioration of the cerebral cortex and elsewhere, progressive mental deterioration, motor disturbances, seizures, and early death. (thefreedictionary.com)
  • In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. (wikipedia.org)
  • clinical
  • Our research focuses on the clinical group of neurosensory diseases, which include several different eye diseases, retinal dystrophies and hearing deficits. (uni-oldenburg.de)
  • Potential strategies to follow in a HSC gene editing clinical protocol. (intechopen.com)
  • Furthermore, we evaluate the transduction efficiency of rAAV2/2[MAX] using explanted human central retinal samples to address clinical translatability. (arvojournals.org)
  • As the majority of inherited retinal diseases occur due to dysfunction in photoreceptors or RPE, 5 , 6 clinical trials have relied on subretinal delivery approaches to administer vector to the targeted cells. (arvojournals.org)
  • Molecular diagnosis confirms the clinical diagnosis and provides the basis for possible future gene therapy. (bmj.com)
  • In this paper, phenotypic clues to the diagnosis of the underlying molecular defect in patients with Leber congenital amaurosis are discussed and an overview of the clinical workup of the child with a retinal dystrophy is presented. (bmj.com)
  • the Krembil is also one of the largest research institutes in Canada focusing on human neurological disease from both a basic science and clinical research perspective. (wikipedia.org)
  • This combines practical skills in eye surgery with clinical academic application in research, to investigate the diseases of the eye 'from bench to bedside': aiming to improve patient outcomes, at least by arresting or slowing the progress of a disease, or - ideally - by reversing the effects, partially or totally. (wikipedia.org)
  • childhood
  • A strict definition of early-onset childhood retinal dystrophies (EOCRDs) does not exist, but inherited retinal dystrophies that are diagnosed in the first few years of life could be included under this umbrella terminology. (bmj.com)
  • Symptoms may develop in early childhood and are usually noticeable in the teenage years, with 95% of affected individuals manifesting disease by age 20 years. (wikipedia.org)
  • The majority of cases were diagnosed late in childhood or adolescence. (wikipedia.org)
  • Features of Danon Disease in males are: An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence) Some learning problems or intellectual disability can be present Muscle weakness can be severe and can affect endurance and the ability to walk Heart disease (cardiomyopathy) can be severe and can lead to a need for medications. (wikipedia.org)
  • defective
  • 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)
  • It is still considered to be unknown on how the defective gene causes the disorder. (wikipedia.org)
  • bestrophin
  • The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. (wikipedia.org)
  • Each of the four bestrophin genes has a unique 3-prime end of variable length. (wikipedia.org)
  • skeletal
  • Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder.Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. (wikipedia.org)
  • Dr. Danon first described the disease in 2 boys with heart and skeletal muscle disease (muscle weakness), and intellectual disability. (wikipedia.org)
  • adulthood
  • Some of the symptoms include: Heart failure (Dilated cardiomyopathy) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood. (wikipedia.org)
  • photoreceptor
  • The gene for MT-protocadherin (MT-PCDH) is specifically expressed in the photoreceptor cells. (arvojournals.org)
  • The rod photoreceptor cells, which are responsible for low-light vision and are orientated in the retinal periphery, are the retinal processes affected first during non-syndromic forms of this disease. (wikipedia.org)
  • Blue cone monochromacy (BCM) is an inherited eye disease that causes severely impaired color discrimination, low vision, nystagmus and photophobia due to the absence of functionality of red (L) and green (M) cone photoreceptor cells in the retina. (wikipedia.org)
  • syndrome
  • Mutations in the TMEM67 gene are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L [ 5 ]. (hindawi.com)
  • Mutations in this gene are associated with hydrolethalus syndrome. (nih.gov)
  • Diseases associated with NBAS include Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly and Infantile Liver Failure Syndrome 2 . (genecards.org)
  • The likelihood of two carrier parents both passing the gene and therefore having a child affected by the syndrome is 25% with each pregnancy. (wikipedia.org)
  • Alström syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. (wikipedia.org)
  • This means both parents have to pass a copy of the ALMS1 gene in order for their child to have the syndrome even though the parents may not show signs or symptoms of the condition. (wikipedia.org)
  • Mutations in the CDH3 gene can also appear in EEM syndrome. (wikipedia.org)
  • Kearns-Sayre syndrome occurs spontaneously in the majority of cases. (wikipedia.org)
  • include
  • Key events of his work at the Moorfields and John Radcliffe hospitals include: 2007 World's First Retinal Gene-Therapy Surgery MacLaren was the assistant surgeon to (Professor) James Bainbridge and helped perform the world's first retinal gene therapy treatment. (wikipedia.org)
  • Diagnosis
  • Dr. Bowne is a Faculty Associate in the Laboratory for Molecular Diagnosis of Inherited Eye Diseases. (uth.edu)
  • Diagnosis of this disease is delayed due to the fact that the individual may be asymptomatic for several years and the disease can be identified only after visual acuity reduces, during which the disease could have progressed to later stages. (els.net)
  • In this article, a review of the history, genetics and pathophysiology, diagnosis and treatment is outlined for further understanding of this disease. (els.net)
  • If the gene mutations have been identified in a family member, prenatal or carrier diagnosis can be pursued. (wikipedia.org)
  • In adult individuals a color test like a Farnsworth D-15, a Farnsworth Munsell 100 Hue test can be part of the diagnosis tools and a Berson test makes it possible to distinguish Blue Cone Monochromacy from other diseases. (wikipedia.org)