BANGALORE: Are genetic defects that cause cancer, epilepsy, deafness, blindness, brain disorders or even infertility different in the Indian population when compared to other populations? This is a question several researchers in Bangalore are trying to answer through their work in the cutting edge area of genomics.
Finding answers could pave the way for early diagnosis, prevention and treatment of several of the disorders.
One of the biggest research efforts happening out of the city is in the area of cancer genetics. Titled ''New targets for cancer using genomic and proteomic approach’ the research effort is a collaboration of cancer researchers from around the country "to decipher the genetic changes that occur during cancer formation and progression".
Spearheaded by Indian Institute of Science Bio-chemistry professor M.R.S. Rao, the study is looking at the genetics of various cancers, in an effort to find likely drug targets to counter the disease. One of the significant discoveries that has come about from the study is the discovery of a new gene ''X’ in Indian patients which could help clinicians obtain a fix on the development of brain cancer.
At the Indian Institute of Science itself researchers have also found new types of defects for Indians in BRCA1, one of the two genes associated with breast cancer, following the first-ever study on the gene in India.
"Our data from 14 families suggests a lower prevalence but definite involvement of germline mutations in the BRCA1 gene among Indian women with breast cancer and a family history of breast cancer,"says Kumaravel Somasundaram, from the department of microbiologgy and cell biology at IISc.
New defects have also been detected at IISc in genes associated with blindness due to glaucoma.
At the Jawaharlal Nehru Centre for Advanced Scientific Research, researchers have identified a gene associated with epilepsy.
The research group headed by professor Anuranjan Anand is currently involved in a largescale collaborative effort to scan epilepsy-affected Indian families for novel genes associated with epilepsy.
The group has also been identifying genes and mutations causing deafness and has shown that mutations in the gene connexin26 is a major cause of profound deafness in the Indian population.
"Identifying this mutation in infants would help in the early diagnosis of deafness, so that intervention strategies could be implemented at an early stage, such as rehabilitation," says Prof Anand.
A lot of the gene related research in the city is incidentally also throwing up new diagnostic techniques for the diseases and disorders. The breast cancer study for instance has provided a test for early diagnosis of hereditary breast cancer.
Numerous genetics projects are also being conducted at other labs in the City including Nimhans.