Sowmya venu gopalNational Institute of Mental Health and Neuro Sciences | NIMHANS · Department of Psychiatry
Sowmya venu gopal
BSc.MSc
About
17
Publications
1,888
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Introduction
Currently, I am trying to understand the genetic epidemiology and genetic modifiers of Huntington's disease (HD) as part of my Ph.D. My future interest is to explore the pathways addressing the functional aspects at the molecular level associated with modifying AAO and the severity of HD.
And also allele specifically decreasing the CAG repeat length using CRISPR/CAS9 editing technology or target the genes that have a direct effect on CAG instability in HD and other triplet repeat disorders.
Additional affiliations
September 2012 - December 2015
Position
- Senior Researcher
Description
- 1. Genetic testing of adult-onset movement disorders like Huntington’s disease and spinocerebellar ataxias. 2. Understanding the distribution and occurrence of these rare genetic disorders in India. 3. Haplotype studies to understand the origin of these Poly Q disorders. 4. Generation of patient-derived lymphoblastoid cell lines to study disease biology.
Education
July 2016 - October 2021
Field of study
- Molecular genetics of Huntington's disease
August 2007 - September 2009
July 2004 - June 2007
Publications
Publications (17)
Huntington's disease (HD) is caused by an increase in the number of CAG triplet repeats in exon 1 of the Huntingtin ( HTT ) gene. Expansions that contain more than 39 repeats predispose to disease. Some specific genetic elements (SNPs), and the haplotypes they create (haplogroups A, B, and C), located at the HTT locus seem to impact CAG repeat inst...
Background
Huntington’s disease (HD), caused by a pathogenic expansion of CAG triplet repeats in exon 1 of the Huntingtin (HTT) gene, has also been linked to three major haplogroups (A, B, and C), which may impact the prevalence of HD. The distribution of these haplotypes in diverse populations is thus important.
Aim
To study the haplotype structu...
Background
Huntington’s disease (HD) is a progressive adult-onset neurodegenerative disorder, caused by pathogenic instability of CAG repeats in exon 1 of the HTT gene. Various subcellular structures and their function are known to be impaired, perhaps due to htt poly Q aggregates. Mitochondrial dysfunction and Telomeres shortening are among them....
Huntington disease (HD), a rare neurodegenerative disorder, is inherited in an autosomal dominant manner, and caused by a pathological trinucleotide expansion at exon1 of the HTT locus. Previous studies have described the haplogroups at the HTT locus that can explain the differences in prevalence of HD. We have selected three informative SNPs (rs76...
Background:
Huntington's disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent 'incurability' often deters symptomatic and rehabilitat...
Background
Huntington’s disease (HD) is characterized by a pathogenic expansion of the (CAG)n repeat in the Huntingtin (HTT) gene. Genetic epidemiology studies have shown the occurrence of different HTT haplotypes with varying prevalence across the world. Currently, there exists no reliable prevalence estimates for the Indian population. Convention...
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-en...
Background:
Recent advances in neurophysiological techniques have contributed to our understanding of the pathophysiology of Huntington's disease (HD). Studies of the motor cortical excitability and central motor pathways have shown variable results.
Objectives:
Our aims were to evaluate the cortical excitability changes in HD using transcranial...
Background
Huntington’s disease (HD) is a neurodegenerative disorder that runs in families. The gene for HD has been identified several years ago however the biology of the illness itself is still poorly understood. Chromosomes which are the physical units of genetic information are protected from fraying in successive cell divisions by repetitive...
Background
Huntington’s disease (HD) is a neurodegenerative condition with neuropsychiatric symptoms. Progression of the disease, as well as social attitude to the symptoms and knowledge about the disease may also contribute to the symptoms.
Aim
To access the functional and behavioural aspects in genetically confirmed HD patients during follow up....
Background
Huntington’s disease (HD), an autosomal dominant neurodegenerative syndrome, has a world-wide distribution. An estimated 2.5–10/100,000 people of European ancestry are affected with HD, while the Asian populations have lower prevalence (0.6–3.8/100,000). The epidemiology of HD is not well described in India, and the distribution of the p...
Background:
Huntington's disease (HD) is a genetically mediated neurodegenerative disorder characterized by presence of involuntary movements, behavioral problems and cognitive dysfunctions. Though few patients with HD may have behavioral symptoms at onset of the disease, studies comparing patients with behavioral symptoms at the onset of HD with...
Huntington's disease (HD), an autosomal dominant neurodegenerative syndrome, has a world-wide distribution. An estimated 2.5-10/100,000 people of European ancestry are affected with HD, while the Asian populations have lower prevalence (0.6-3.8/100,000). The epidemiology of HD is not well described in India, and the distribution of the pathogenic C...
