Kishore R. Kumar
A5078141872- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Neurological disorders and treatments
- Mitochondrial Function and Pathology
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- RNA regulation and disease
- Nuclear Receptors and Signaling
- CRISPR and Genetic Engineering
- Cerebral Palsy and Movement Disorders
- Ion channel regulation and function
- Cellular transport and secretion
- RNA modifications and cancer
- Botulinum Toxin and Related Neurological Disorders
- Amyotrophic Lateral Sclerosis Research
- Microtubule and mitosis dynamics
- Glycogen Storage Diseases and Myoclonus
- Endoplasmic Reticulum Stress and Disease
- Autism Spectrum Disorder Research
- Muscle Physiology and Disorders
Garvan Institute of Medical Research
2015-2025
The University of Sydney
2016-2025
Concord Repatriation General Hospital
2019-2025
St Vincent's Clinic
2023-2025
UNSW Sydney
2015-2025
St Vincent's Health
2023-2025
Royal North Shore Hospital
2015-2025
St Vincent's Hospital
2023-2025
University of Lübeck
2011-2024
Harry Perkins Institute of Medical Research
2024
More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing Oxford Nanopore’s ReadUntil function for parallel genotyping all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly DNA methylation profiling STR sites, from list predetermined candidates. This correctly diagnoses individuals...
Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies performed in just one population at a time. Here we large-scale multi-ancestry meta-analysis of with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals European, East Asian, Latin American African ancestry. In meta-analysis, 78 significant loci, 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2,...
The cerebellar ataxias (CAs) are a heterogeneous group of disorders characterized by progressive incoordination. Seventeen repeat expansion (RE) loci have been identified as the primary genetic cause and account for >80% diagnoses. Despite this, diagnostic testing is limited inefficient, often utilizing single gene assays. This study evaluates effectiveness long- short-read sequencing tools CA. We recruited 110 individuals (48 females, 62 males) with clinical diagnosis Short-read genome...
<h3>Objective:</h3> To determine nonmotor signs (NMS) and evaluate the utility of several diagnostic tools in patients with de novo Parkinson disease (PD). <h3>Methods:</h3> This is a large single-center study DeNoPa cohort, including frequency-matched healthy controls. covers motor signs, NMS, combination tests olfactory testing, transcranial sonography substantia nigra (TCS), polysomnography (PSG). We report frequency characteristics NMS outcomes at time diagnosis. <h3>Results:</h3>...
A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and characteristic facies body habitus, in an Australian family.Genome-wide linkage analysis carried out 14 family members followed by genome sequencing 2 individuals. The index patient underwent detailed neurological follow-up examination, including electrophysiological studies magnetic resonance imaging scanning. Biopsies...
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number causative genes have not yet been recognized. We aimed to investigate this paucity diagnoses. Methods undertook weighted burden analysis whole‐exome sequencing (WES) data from 138 individuals unresolved generalized etiology, followed by additional case‐finding international databases, first for the gene implicated ( VPS16 ), and then other functionally...
Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at presentation, evolving through a caudocranial pattern into generalized dystonia, prominent oromandibular, laryngeal cervical involvement. Although KMT2B-related is emerging as one the most common causes early-onset genetic much remains to be understood about full spectrum disease. We describe cohort...
<h3>Background and Objectives</h3> Mitochondrial diseases (MDs) are the commonest group of heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis challenging, causative genetic variants may reside in either mitochondrial or nuclear DNA. A single comprehensive diagnostic test would be highly useful transform field. We applied whole-genome sequencing (WGS) to evaluate variant detection rate capacity this technology with a view simplifying improving MD pathway....
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
Most minor head injuries have no immediate neurological sequelae. We present a case where acute symptoms followed very injury, and an underlying genetic cause was identified. highlight the role that injuries, even when innocuous, may in precipitating worsening neurogenetic disorder.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline improve this process using long‐read sequencing. Methods developed targeted sequencing strategy with the capacity characterise variation all types sizes within 469 disease‐associated genes, in single assay. applied cohort 34 individuals unsolved spastic‐ataxia. An...