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Department of Medical Genetics & Metabolic Studies

Spandan’s Laboratory for Medical Genetics and Metabolic studies:

Medical genetics services deal with all aspects of genetic disorders, such as detection, diagnosis, management and therapy of the affected individuals as well as prevention and genetic counseling. Recent developments in human genetics in this century have been truly spectacular. In 1900 Mendel’s principles were awaiting rediscovery, chromosomes were barely visible and the science of molecular genetics did not exist. By contrast, now in this century over 15,000 single gene disorders have been identified, chromosomes can be analyzed to a very high level of sophistication and the sequence of the entire human genome has been reported. Over the years, infectious diseases have been brought under control as powerful antibiotics have been developed. This has resulted in increasing our average life span by several decades.

The increased life span provides an opportunity for genetic diseases to clinically manifest themselves. In addition development of new technologies and diagnostic procedures enable early diagnosis of a large number of genetic diseases. The increasing awareness about genetic diseases amongst the medical practitioners and common man has also led to renewed emphasis on their diagnosis and management, wherever possible. Further, the Human Genome Project has provided a tremendous impetus to the science of genetics and its futuristic applications.

Medical Genetics involves study of the inheritance of a disease in the family, analysis of the molecular mechanisms by which a Gene causes a disease, its diagnosis, the management / treatment of the patient and Genetic counseling of the patient and his family members detailing various options to prevent the recurrence of the same disease in the family.

Number of children with Mental Retardation and Autism can have inborn errors of metabolism. Metabolic derangements due to defective gene in a biochemical pathway results in the depletion of the enzyme acts. A variety of Biochemical Investigations are carried out on patient’s urine and blood sample in our laboratory for the diagnosis of Genetic Metabolic Derangements.

We are exploring what impact homeopathic medicines have in this phenomena. Investigations give us  greater insight into the molecular nature of the disease.

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