Ongoing/Completed studies on Rare diseases funded by various agencies
| File No | Title | Keyword | Funding Agency | View |
|---|---|---|---|---|
| Temp 10 | Finding Novel Cost-effective Process and Formulation of RISDIPLAM to treat Spinal muscular atrophy SMA | Risdiplam, Spinal Muscular Atrophy, Rare disorder | DST | View |
| Temp 9 | Process Development for Nusinersen: An Orphan Drug Used to Treat Spinal Muscular Atrophy (SMA) | Nusinersen, Orphan drug, Spinal Muscular Atrophy | DST | View |
| Temp 8 | Cost Effective Route of Nitisinone for Alkaptonuria and Hereditary Tyrosinemia-1 (HT-1) | Nitisinone, Alkaptonuria, Hereditary Tyrosinemia-1 | DST | View |
| Temp 7 | Development And Evaluation Of Affordable Biotherapeutic For Gaucher Diseases | Biotherapeutics, Gaucher disease, Biobetter, Biologics, Cerezyme | DST | View |
| Temp 6 | Efficient Process development strategies for prevalent “rare disease” drugs | Cystic fibrosis, Tezacaftor, Eliglustat, Lysosomal disorder, Eteplirsen, Duchenne Muscular Dystrophy, Rare disorder | DST | View |
| Temp 5 | Process Development of Risdiplam, Cladribine and Palovarotene: Drugs for Rare/Orphan Diseases | Risdiplam, Cladribine, Palvoarotone, Rare disorders, Orphan drugs, Relaing-Remitting multiple sclerosis, Langerhans cell histiocytosis, Heterotopic ossification, Fibrodysplasia ossificane progressive | DST | View |
| Temp 4 | An efficient and economical method of synthesis for Ivacaftor: A CFTR modulator. | Ivacaftor, CFTR modulator, Lumacaftor, Cystic Fibrosis, | DST | View |
| Temp 3 | Small molecule drug discovery for rare genetic disorder therapy | Drug Discovery, Rare genetic disorders, GNE Myopathy, Lead molecule identification | DST | View |
| Temp 2 | Pharmacokinetic and Dynamic correlation for optimum therapy of NTBC for the Treatment of Indian Patients with Hereditary Tyrosinemia type 1 | Pharmacokinetics, NTBC, Hereditary tyrosinemia type 1, Nitisinone | DST | View |
| Temp 1 | Novel synthetic process and formulation development of ELIGLUSTAT tartrate for treatment of GD-1 | Eliglustat tartrate, gaucher disease type-1, photocatalytic | DST | View |
| 33/13/2023/RD/BMS | Development of a CRISPR-Cas9 based AAV (Adeno Associated Virus) vector for HDR (Homology Directed Re | Gaucher’s disease | ICMR | View |
| 33/12/2023/RD/BMS | Design and development of Pyrazole based soluble epoxide hydrolase inhibitor to rescue cholesterol h | Niemann-pick disease type C | ICMR | View |
| 33/11/2023/RD/BMS | Repositioning of mitochondria-targeted FDA approved small molecules, and development and testing of | Mitochondrial Skeletal Disorders (MSDs) | ICMR | View |
| 33/09/2023/RD/BMS | Therapeutic rescue of neutrophil maturation arrest by base editing of ELANE in severe congenital neu | severe congenital neutropenia | ICMR | View |
| 33/08/2023/RD/BMS | Pharmacological evaluation and characterization of a novel SARM1 inhibitor in the preclinical model | Charcot-Marie-Tooth 2A (CMT2A) | ICMR | View |
| 33/07/2023/RD/BMS | Repurposing anti-diabetic drug and related rescue mechanisms for glycogen storage cardiomyopathy | glycogen storage cardiomyopathy | ICMR | View |
| 33/06/2023/RD/BMS | Customization of galactosylceramidase for replacement therapy in Krabbe’s disease | Krabbe’s disease | None | View |
| 33/04/2023/RD/BMS | Development of enzyme enhancement treatment for neuronopathic Gaucher disease | neuronopathic Gaucher disease | ICMR | View |
| 33/03/2023/RD/BMS | Design & development of gene therapy for methylmalonic acidemia | methylmalonic acidemia | ICMR | View |
| 33/02/2023/RD/BMS | Animal milk derived engineered exosomes as nanocarriers for oral delivery of recombinant human Facto | Hemophilia A | ICMR | View |
| 33/01/2023/RD/BMS | Development of implantable hydrogels containing engineered cells secreting glucocerebrosidase for | Gaucher disease type 1 | ICMR | View |
| 1 | Evaluation of AuNPs as an Immunonutrient | Gold | None | 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 |
