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Genomicsof Cardiomyopathy and Rare Genetic Disorder

  • First time in India, Genomics of Regeneration- Study using Zebrafish as a model organism
  • Sudden death syndrome – Genetics, new technologies and path to personalized medicine
  • Early detection of cardiomyopathies helps in management of heart disease

Chennai, 11th June 2015: For the first time in the country, Frontier lifeline Hospital (FLL) and Dr K M Cherian Heart Foundation have embarked on a research which allows them to identify sudden death (hypertrophic cardiomyopathy) in a person who is at risk and test the best possible drug that would reverse the condition in a zebra fish.

Hypertrophic cardiomyopathy (HCM), also known as the sudden death syndrome is one of the most common heritable cardiovascular diseases and is the most common cause of sudden death in the young and kids. HCM refers to a malfunction of the heart muscle, it becomes enlarged, thick or rigid. Apart from other types and causes, Cardiomyopathy can be acquired or inherited (due to genetic mutation).

Rare Genetic Disorder on the other hand varies from region to region. Genetic disorders are conditions caused by abnormalities in the genetic material contained within our cells.Genetic disorders may be heritable and passed on from family members or non-heritable and acquired during a person’s lifetime. Acquired genetic disorders refer to conditions caused by acquired mutations or changes in parts of the DNA, if the mutation occurs in the germ line.

Early diagnosis is one step through which these disorders can be prevented. A person suffering from cardiac problems, especially with dilated HCM must go for Genetic Analysis test. FLL recently launched an exclusive centre called Cardiovascular Risk in Young Clinic (C-R-Y clinic) for the first time in our country, where family screening can be done with diagnostic test for specific genetic change in a family.

Speaking on early diagnosis prevention for these disorders, Dr Anantharaman, Sr Consultant Cardiologist – Frontier LifelineHospital, said, “Any person who is suffering or had suffered from cardiomyopathy or rare genetic disorder, his or her family should come forward and take a test. FLL is the first hospital in the country to offer genetic screening as well as genetic consulting for genetically inherited families, as these families are seen as priority. The clinic will provide evaluation and treatment for people at risk and the families due to genetic pre disposition.”

Genomics and Genetics are the primary underlying cause of complex disorders through which genomic sequence information will reveal other possible ways to comprehend disease manifestation.  Due to limitations and demand for fast, most accurate and cost affective DNA sequencing, Next Generation Sequencing (NGS) technologies are developed.

Speaking on the session,Dr.Priya Chockalingam – Cardiologist, Frontier Lifeline Hospitalsaid, “Genetics and genomics play an increasingly large role in the practice of medicine. Next generation sequencing (NGS) is perhaps one of the most excitingadvances in the field of life sciences and biomedical research in the last decade..This technology has been used to understand the genetic aspects of various diseases including cardiomyopathies.With ease in handling, cost effectiveness and fast data output, NGS is now considered as a diagnostic tool for cardiomyopathy.”

Despite all the technologies,lack of families suitable for linkage analysis and positional cloning most of the genetic causes of cardiomyopathy and other diseases are still unknown due to.To facilitate rapid identification and validation of HCM and genetic disorders, appropriate animal models are needed. In regard with this,Doctors at FLL, Scientists & researchers from Frontier Mediville have done a research on an animal model organism for Genomics of Regeneration for heart development using Zebrafish.

Explaining about the extensive use of Zebrafish as model organismDr. K M Cherian,Chairman and CEO, Frontier Lifeline Hospital, said,“Till now only two large genomes have been sequenced to high standard: the human genome and the mouse genome.Over the decades, the popularity of the zebrafish model has grown more rapidly than any other vertebrate model, and by now the zebrafish is used for virtually all disciplines of biological and medical research. 80% of human gene is found similar to that of Zebrafish and the gene specific differences can be reliably produced by Zebrafish model.”

Further discussing about Regeneration, Dr. Harapriya,Consultant – Pediatric cardiology, Frontier Lifeline Hospital said, “Regeneration, is a complex biological process by which animals can restore the shape, structure and function of body parts lost after injury, or after experimental amputation. Zebrafish is one among the few species that has the capacity to regenerate body parts, especially heart.”  She also gave insights about the mechanisms underlying the regeneration process and how Zebrafish model offers new possibilities for various experimental biological phenomenon.

To try and find the kind of genetic anomalies that cause Hypertrophic Cardiomyopathy (or Sudden Death Syndrome), Frontier Lifeline Hospital has decided to set up a nation-wide network to collect blood samples from people across the spectrum. FLL has associated with Council of Scientific & Industrial Research (CSIR), India – Institute of Genomics & Integrative Biology (IGIB), Centre for Cellular & Molecular Biology (CCMB) and Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) and hosted a CME Programme on Genomics of Cardiomyopathy and Rare Genetic Disorder- its causes, prevention and application in clinical medicine.

The session was felicitated by Dr. K M Cherian, Chairman and CEO, Frontier Lifeline Hospital, Dr.Priya Chockalingam – Cardiologist, Dr Anantharaman – Sr. Consultant Cardiologist,Dr.Harapriya, Consultant – Pediatric cardiology and dignitaries from other research centers. The Programme aimed to serve practitioners, students and researchers to identify and share the research findings on the number of genetic variants that are identified in various genetic disorders, especially cardiomyopathy to screen multiple genes associated with the disease

Apart from this, team is also involved in translation research to understand the causes and suggest ways to improve health and prevent diseases in individuals and populations through CRY clinic and research centre at Frontier Mediville.

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