Rare Disease Genomics India - GUaRDIAN | Genomics for Understanding Rare Diseases - India Alliance Network

Search this site
  • Home
  • About Us
  • Resources
    Partnering with Us
    Technology
    Patient Support and Education
    Exome Sequence Analysis and Interpretation
    Genetic Diagnosis of Mitochondrial Diseases
  • Research
    Publications
    Precision Medicine Dermatology
    Primary Immunodeficiency Disorders
    iCROWD - Indian Collaborative Research Consortium on Wilson Disease
    i3C - Indian Collaborative on CNS Cavernous Malformations
    ThalAId Thalassemia Associated Iron Overload
    Genomics of Autoinflammatory Diseases in India
    Genomics of Cardiac Arrhythmia
  • Events & Courses
    Seminars in Pediatric Immunology 2020
    CSIR-IGIB Sanofi Genzyme Fellowship in Genomics for Medical Professionals
    Clinical Genomics Meeting (ClinGeM)
    Clinical Exome Analysis
    Genomics of Rare Genetic Diseases 2015
  • Refer a case
  • Support GUaRDIAN
  • Contact us
  • Home
  • About Us
    • Background
  • Clinical Exome Analysis
  • Clinical Genomics Meeting (ClinGeM)
  • Contact us
  • CSIR-IGIB Sanofi Genzyme Fellowship in Genomics for Medical Professionals
  • Events & Courses
    • Advances in Genetic Diagnosis of Neurological Disorders / 3MGM2018
    • AIIMS Delhi CSIR-IGIB Joint Workshop on Exome Sequence Analysis and Interpretation
    • Cafe Genomics - Tirunelveli Medical College
    • ClinGeM Delhi
    • CSIR-IGIB Sanofi Genzyme Fellowship in Genomics for Medical Professionals 2019
    • Gene Ambassador Programme - GAP2016
    • Genetic and Genomic Medicine in Maternal and Fetal Care
    • Genetics & Genomics in Cardiovascular Diseases / 2nd MMM Genetics Meeting
    • GenoDerma (03-05 Feb 2017, Pune) - Genomics in Clinical Dermatology
    • GenoMed Calicut 2016
    • Genomic Variant Analysis & Clinical Interpretation
    • Genomics for Clinicians - Jaipur 2016
    • Genomics for Clinicians / Tirunelveli Medical College
    • Genomics for Clinicians / Workshop on the Concept & Application of Genomics in Clinical Medicine - Mizoram 2018
    • Genomics for Personalised & Precision Medicine
    • Genomics for Personalized and Precision Medicine - One day meeting and Hands-on workshop on Exome Sequence Analysis
    • Genomics in Clinical Medicine | Kochi
    • Genomics in Clinical Medicine | Thiruvananthapuram
    • Genomics in Clinics - AIIMS & CSIR-IGIB joint meeting on the concept and application of Genomics in Clinical Medicine
    • Genomics in Clinics - JIPMER Puducherry
    • Hands on Workshop on Exome Sequence Analysis and Interpretation for Clinicians
    • Hands-on Workshop on Analysis of Human Exome Data
    • Pediatric Neurogenomics Symposium
    • Racefor7 Delhi
    • Recent Advances in Cardiovascular Genetics and Genomics
    • Seminar Series on Hemoglobinopathies 2021
    • Seminars in Pediatric Immunology 2020
    • Spotlight on Primary Immunodeficiency Disorders
  • Exome Sequence Analysis and Interpretation
  • Gene Ambassador Programme
  • Genetic Diagnosis of Mitochondrial Diseases
  • Genomics of Cardiac Arrhythmia
  • Genomics of Rare Genetic Diseases 2015
  • Hemophilia
  • iCROWD - Indian Collaborative Research Consortium on Wilson Disease
  • Media
    • 5-year-old ‘butterfly’ boy at PGI for treatment
    • An anomaly that could kill - AS Jayanth in The Hindu
    • Disruptive transformation. Sridhar Sivasubbu and Vinod Scaria (LiveMINT Feb 16 2016)
    • Genome sequencing by CSIR to help in Precision Medicine in India
    • IGIB researchers partially reverse a rare disorder
    • IMHANS to have new genetic research facility
    • Interpretation of a malady: how scientists zeroed in on one family's rare and crippling disease
    • Research on genes rules out ailment in youngest sibling (Umesh Isalkar in Times of India Oct 6, 2016)
    • Screening for rare genetic disorders at a point-of-click. (Prasad Ravindranath / The Hindu July 10, 2016)
    • Should you take that genetic test ? Jacob Koshy (The Hindu May 15, 2016)
    • Studying genome sequencing of over 90-year-olds, centenarians. G N Prashanth (Deccan Herald Jan 05, 2015)
    • Workshop on Genomics in Clinical Medicine at Aster Medcity, Kochi
    • आनुवांशिक बीमारियों की जांच के लिए मेडिकल कॉलेज खोल रहा रिसर्च लैब
  • News
  • Partnering with Us
  • Patient Support and Education
    • Achondroplasia India
  • Pediatric Immune Disorders / Govt. Medical College Kozhikode
  • Primary Immunodeficiency Disorders
  • Publications
    • Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
    • Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi syndrome in zebrafish
    • Chemical screens in a zebrafish model of CHARGE syndrome identifies small molecules that ameliorates disease like phenotypes in embryo
    • Development of a Clinical Diagnostic Matrix for characterising Inherited Epidermolysis Bullosa.
    • Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever
    • Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa in India
    • Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India
    • Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North Africa
    • Genomics of Hyper IgD Syndrome - Founder variants dominate the disease in India
    • mit-o-matic: a comprehensive computational pipeline for clinical evaluation of mitochondrial variations from next-generation sequencing datasets
    • Rescue of neural crest derived phenotypes in a zebrafish CHARGE model by sox10 downregulation
    • Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3
    • Systematic analysis and functional annotation of variations in the genome of an Indian individual.
    • Systematic Pharmacogenomis analysis of a Malay whole genome: Proof of concept for personalized medicine
    • Unilateral monomorphic hypopigmented macules: A variant of Darier disease
    • Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis
    • Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling–Degos disease
    • Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis
  • Pulse
    • Exome sequencing to understand genetic mutations in rare genetic diseases
    • Personal genomics in clinical medicine : it is not in the future anymore
  • Rare Blood Group Genomics Initiative
  • Rare Diseases Registry
  • Refer a case
  • Research
    • Genomics of Autoinflammatory Diseases in India
    • i3C - Indian Collaborative on CNS Cavernous Malformations
    • Precision Medicine Dermatology
    • Precision Medicine Opthalmology
    • ThalAId Thalassemia Associated Iron Overload
  • Resources
    • Rare Disease Networks in India
  • Seminars in Pediatric Immunology 2020
  • Submit Case Details
  • Support GUaRDIAN
  • Technology
  • Upcoming Talks
    • 7th International Genetic Disorders Conference & UAE International Genetic Disorders Prevention Award 2018
  • Sitemap

News

Subscribe to posts


Sign in|Recent Site Activity|Report Abuse|Print Page|Powered By Google Sites