Personalized Precision Therapies for a Common Class of Genetic Disorders
Until now, there was no systematic way of comparing different mutation severities for RASopathies effectively.
Until now, there was no systematic way of comparing different mutation severities for RASopathies effectively.
‘New genetic screening test provides couples with reproductive options that help them prevent the birth of babies with genetic disorders.’
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"MedGenome has introduced cheap carrier screening tests for couples for 100, 500 and 4500 genes of relevance in our country. It will help reduce the burden of genetic disorders in India," a statement said by I.C. Verma, Director of the Institute of Genetics and Genomics at Sir Ganga Ram Hospital. The unique 'Claria Carrier screening test', developed in collaboration with Sir Ganga Ram Hospital, is based on the Next Generation Sequencing (NGS) technology.
The test provides vital information of "carrier" status to couples and their risks of passing down serious genetic disorders to their child and provide them reproductive options that help to prevent the birth of such babies.
Exome Sequencing More Efficient to Diagnose Neurogenetic Disorders
Exome sequencing is more efficient and less costly than the type of genetic testing that has been more commonly used; it greatly improves speed and accuracy.
Exome sequencing is more efficient and less costly than the type of genetic testing that has been more commonly used; it greatly improves speed and accuracy.
Over a million babies are born each year in India with genetic disorders, and 20-30 per cent of infant mortality is due to these disorders.
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Seeing Cell to Cell Differences Explains Causes of Genetic Disorders
At the single-cell level gene expression is highly variable and quite different than expected, which is now shedding light on the molecular causes of rare diseases.
At the single-cell level gene expression is highly variable and quite different than expected, which is now shedding light on the molecular causes of rare diseases.
"India has a heavy burden of genetic disorders, owing to our ancient population history, inbreeding, high birth rates, consanguinity and lack of awareness among people. We believe our screening test will help in creating a large impact in India and benefit a significant part of the population," said Sam Santhosh, Chairman, MedGenome.
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60 Genetic Disorders Affect Skin, Nervous System Problems
Genetic disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders.
Genetic disorders may be inherited or develop from spontaneous mutations. Although treatments are improving, there are no cures for neurocutaneous disorders.
Source-IANS
