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Research

Ongoing/Completed studies on Rare diseases funded by various agencies


File No Title Keyword Funding Agency View
BT/ PR45460/ MED/ 12/ 952/ 2022 Mission Program on Pediatric Rare Genetic Disorders Rare disorders, genetic diagnosis, genomics, proteomics, genetic counseling and awarenesses DEPARTMENT OF BIOTECHNOLOGY View
BT/AAQ/01/CDFD-Flagship/2019 Development of genomic technologies for predictive genetic health and forensic profiling Genomics, Next Generation sequencing, genetic diagnostics, familial disorders DEPARTMENT OF BIOTECHNOLOGY View
33/12-7/2019-TF/Rare/BMS Setting Up Of Registry And Targeted Exome Sequencing In Children With Renal Tubular Disorders Renal tubular disorders; children; next generation sequencing: ICMR View
33/12-6/2019/TF/Rare/BMS Setting Up Of Registry And Targeted Exome Sequencing In Children With Renal Tubular Disorders Renal tubular disorders; children; next generation sequencing: ICMR View
33/12-5/2019-TF/Rare/BMS Setting Up Of Registry And Targeted Exome Sequencing In Children With Renal Tubular Disorders Renal tubular disorders; children; next generation sequencing: ICMR View
33/12-3/2019/TF/Rare/BMS Setting Up Of Registry And Targeted Exome Sequencing In Children With Renal Tubular Disorders Renal tubular disorders; children; next generation sequencing: ICMR View
33/12-2/2019-TF/Rare/BMS Setting Up Of Registry And Targeted Exome Sequencing In Children With Renal Tubular Disorders Renal tubular disorders; children; next generation sequencing: ICMR View
33/29-2/2019-TF/Rare/BMS Clinical and Molecular Evaluation of Inborn Errors of Immunity in a tertiary care centre of North In Immunodysregulation; Next Generation Sequencing; Flow Cytometry; Lymphoproliferation; Immunogenetics ICMR View
33/29-1/2019-TF/Rare/BMS Clinical and Molecular Evaluation of Inborn Errors of Immunity in a tertiary care centre of North In Immunodysregulation; Next Generation Sequencing; Flow Cytometry; Lymphoproliferation; Immunogenetics ICMR View
33/29/2019-TF/Rare/BMS Clinical and Molecular Evaluation of Inborn Errors of Immunity in a tertiary care centre of North In Immunodysregulation; Next Generation Sequencing; Flow Cytometry; Lymphoproliferation; Immunogenetics ICMR View
33/28/2019-TF/Rare/BMS Evaluation of inherited defects in leukocyte function by combined clinical,hematological, flowcytome Leukocyte function disorders, primary immunodeficiency disorders phagocytic disorders ICMR View
33/27/2019-TF/Rare/BMS Understanding the Genomics of Primary Immunodeficiency disorders (PID) using Next Generation Sequenc Primary immunodeficiency disorders, Next generation sequencing, Targeted panels, whole exome/genomea ICMR View
33/26/2019-TF/Rare/BMS Clinical and genomic characterization of Indian patients with Arthrogryposis Multiplex Congenita (AM Arthrogryposis next generation sequencing, exome sequencing, genomics ICMR View
33/25/2019-TF/Rare/BMS Understanding The Mechanism Of Action Of A Novel Chemical Cross-Linker Designed To Treat Keratoconus Novel chemical cross-linker; Mechanisms; keratoconus; signalling molecules; collagen matrix; eye-dro ICMR View
33/24/2019-TF/Rare/BMS Evaluation Of Read Through Compounds For Nonsense Suppression Of Atm Mutations In Indian Patients Ataxia telangiectasia, ATM, premature truncating mutation, small molecular read through (SMRT) compo ICMR View
33/23/2019-TF/Rare/BMS Mechnaisms Of Retinal Degneration In Retinitis Pigmentosa Type 12: Role Of The Crumbs-Homology Prote Retinitis pigmentosa 12, Crumbs-1, Crumbs-2, tight junctions, adherens junctions. ICMR View
33/22/2019-TF/Rare/BMS The Development Of Drosophila Melanogaster Models Of Pros And Proteus Hemihypertrophy Disorders Alon hemihypertrophy, PI3Kinase, Akt1,Drosophila melanogaster, non-cell-autonomous, growth ICMR View
33/20/2019-TF/Rare/BMS Profiling In Vivo Substrates Of Palmitoyl-Protein Thiosterase-1 As A Quest For Novel Therapies For I Infantile Batten disease, depalmitoylation, neurodegeneration,thioesterase, Mass spectrometry, acyl- ICMR View
33/19/2019-TF/Rare/BMS In Search Of The Causative Genetic / Molecular Events In Bardet Biedl Syndrome Patients Excluded For BBS, epigenetics, miRNA variants, epistasis, methylation ICMR View
33/17/2019-TF/Rare/BMS Clinical, Pathological And Genetic Studies Of Patients With Tropical Ataxic Neuropathy Disability, Electrophysiology, Intraepidemal nerve fibre density, Tropical Ataxic Neuropathy, Qualit ICMR View
33/16/2019-TF/Rare/BMS Biomarker Discovery In Seronegative Neuromyelitis Optica (NMO) Neuromyelitis optica spectrum disorder, Seronegative NMO, biomarker, proteomics, DIA, protein struct ICMR View
33/15/2019-TF/Rare/BMS Development Of Mice Models For Amyloidosis: A Rare Disease Amyloidosis, amyloid Enhancing Factor, Tuberculosis, Serum Amyloid A, BALB/c, ELISA ICMR View
33/13/2019-TF/Rare/BMS Next-Generation Sequencing Based Screening For Genetic Forms Of Hyperinsulinemic Hypoglycemia Congenital Hyperinsulinemic Hypoglycemia, Next-generation sequencing, Monogenic disorder, Exome sequ ICMR View
33/12/2019-TF/Rare/BMS Setting Up Of Registry And Targeted Exome Sequencing In Children With Renal Tubular Disorders Renal tubular disorders; children; next generation sequencing: ICMR View
33/11/2019-TF/Rare/BMS Genetic Characterization And Clinical Correlates Of Polymicrogyria Syndromes Cortical folding, gyral pattern, polymicrogyria, neuroimaging, whole exome sequencing, gene expressi ICMR View
33/10/2019-TF/Rare/BMS Design, Synthesis And Biological Evaluation Of Novel Lead Compounds For Treatment Of Fibrodysplasia Fibrodysplasia Ossificans progressiva, ACVR1, ALK2, Pharmacophore, Zebrafish, bone morphogenetic pro ICMR View
33/9/2019-TF/Rare/BMS Indian Undiagnosed Diseases Program (I-Udp) novel gene ICMR View
33/8/2019-TF/Rare/BMS Exploring the molecular mechanisms underpinning arterial calcifications in ADCC/CALJA (a rare diseas Vascular calcifications, genome editing, ACDC, ossification, Endothelial to Mesenchymal transition ICMR View
33/7/2019-TF/Rare/BMS Therapeutic role of inhibitors of Hyaluronan in schwannoma associated with Neurofibromatosis type 2 Neurofibromatosis Type 2, Schwannoma, Meningioma, Hyaluronic acid, CD44, Cerebrospinal fluid ICMR View
33/6/2019-TF/Rare/BMS An Indian Initiative To Study Granulomatosis With Polyangiitis Through Clinical And Genomics Approac Granulomatosis with Polyangitis, Multifactorial disease, Prospective cohort Transcriptomics, Fluresc ICMR View
33/5/2019-TF/Rare/BMS The Genetic Landscape Of Alport Syndrome In India With Phenotypic Correlation Alport syndrome, collagenopathy, next generation sequencing, typeIV collagen, electron microscopy ICMR View
33/4/2019-TF/Rare/BMS Evaluation Of Lrrk2 I1371v Mutation On Cellular Pathogenesis Of Parkinson Disease Using Patient-Spec Induced pluripotent stem cells, parkinson's disease LRRK2 I1371, mutation, Indian ethnicity PD patie ICMR View
33/3/2019-TF/Rare/BMS Nose To Brain Delivery Of Surface-Modified Drug Loaded Plga Nanoparticles For Management Of Trigemin Six keywords separated by comma which best describe your project may be provided. Trigeminal Neuralg ICMR View
33/2/2019-TF/Rare/BMS Use Of Next Generation Sequencing Techniques In Identification Of Causative Etiology In Fetuses With Fetus, Prenatal diagnosis, structural Malformation, cytogenetic microarray, whole exome sequencing, ICMR View
33/1/2019-TF/Rare/BMS Clinical And Molecular Characterization Of Primordial Dwarfism (Pd) In Indian Patients Primordial Dwarfism, Microcephaly, Relative Macrocephaly, Mutation, Epimutation, Uniparental Disomy ICMR View
File No Title Keyword Funding Agency View