Genetic counselling could reduce suffering - Sperling

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Amritsar, Dec 4 (UNI) Renowned Human Geneticist Karl Sperling today said in India, with inbreeding and large families, identification of monogenic disorder genes and genetic counselling could play an important role to alleviate suffering.

Speaking on ''The Human Genome Project: Its implications for Medicine'', at Guru Nanak Dev University here after being conferred the Honorary Professorship, Dr Sperling said, so far only 2000 genes had been identified but in future, as testing becomes more automotive, a predictive, preventive and personalised medicine could be developed.

Dr Sperling, who is the Director of Institute for Human Genetics of Humboldt University, Berlin (Germany), said Human Genome had about 25,000 genes while the whole genome had three billon genes present in 46 chromosomes.

He said the methods to identify genetic disease were to identify the families with diseased members, map the genes, clone the requisite sequence and look for mutations. So, he said gene mapping was followed by gene identification.

The internationally renowned geneticist said human genome project had triggered the race to develop the Genen Chip, for medical testing and base therapy on Molecular diagnosis.

He, however, emphasised that wisdom should be based on values.

The objective of preventing suffering never contains a value judgment about life of people with a handicap who, now and in the future were part of our society.

However, genetic counselling could reduce the chances of suffering, he said, elaborating upon the role of Nijmegen Breakage Syndrome (NBS) gene in DNA repair citing the experiments of his LAB in tissue culture and mouse models.

His work showed how a defective NBS gene lead to abnormal brain development by causing reduced neural cell number in brain. He also highlighted the role of NBS gene in immunodeficiency, cancer, infertility and micro cephalic in children having NBS.

Earlier, Dr Ravinder Singh, Vice-Chancellor of Baba Farid University of Medical and Health Sciences, Faridkot and Professor Jai Rup Singh, Vice-Chancellor, while presenting Honorary Professorship to Dr Sperling, praised him for his outstanding research contributions to the fields of Human Molecular Genetics, Genetic Epidemiology, Human Cytogenesis Dr Sperling was currently working on DNA repair and cancer.

''He has over 300 research publications in high impact international Journals and been recently awarded the Medal from the German Society of Human Genetics,'' they said, adding that the faculty, students and the researchers of the University would be benefitted from his long experience in Human Genetics.


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