 The i3C consortium aims at using cutting edge genomics technology to enable identification of genetic variations in diseases and help clinicians arrive at a precise diagnosis for rare genetic diseases. Apart from working closely with clinicians, we aim to foster education, awareness and the widespread adoption of genomic technology in clinical settings, in addition to creating and disseminating the highest standards of genomic data generation and interpretation. We invite you and your Department/Institute to be part of this ongoing collaborative effort. Contact Dr. Vinod Scaria (vinods@igib.in) / Dr. Sunil Manjila (sunil.manjila@gmail.com) | Cerebral and Spinal Cavernous Malformations Cavernous malformations are vascular lesions comprising of abnormal/irregular and enlarged blood vessels, with a propensity to produce hemorrhages and seizures. Such malformations, though can occur anywhere in the body, produce a neurological manifestation usually when they arise in the brain and the spinal cord. Mutations in at least three genes KRIT1, CCM2, PDCD10 are known to cause familial cerebral cavernous malformations and are known to account for approximately 85 to 95 percent of the cases in the described literature from western populations. In our current initiative, we employ genomic techniques (Whole Exome / Whole Genome Sequencing) towards understanding the molecular lesions in vascular diseases of the CNS. Further in-depth understanding of the molecular mechanisms of the disease would extensively utilize zebrafish model systems, gene editing and molecular studies (see Lalwani et. al). Principal Investigators Dr. Vinod Scaria / CSIR-IGIB, Delhi Dr. Sridhar Sivasubbu / CSIR-IGIB, Delhi Dr. Hrishikesh Sarkar / Holy Family Hospital, Mumbai | Referral Process As part of the collaborative initiative, we aim to study Familial cases of Cerebral and Spinal Cavernous Malformations. Please contact us for more details. We have a standardized referral and consenting process which is detailed online at at http://guardian.meragenome.com/referral GUaRDIAN : Intergrating Personalised and Precision Medicine One of the programmes we have initiated is Genomics for Understanding Rare Disease, India Alliance Network (GUaRDIAN), which is a large-scale collaborative network of clinicians from around India trying to integrate genomics in clinical practice, with the a singular focus to elucidate the genetic structure of rare genetic diseases in India. |
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