Ultimately, the aim is to come out with personalised healthcare for the community, that could also give health-related indicators for other communities.

Thirty-one per cent of the Parsi population lives beyond the age of 60, compared to seven per cent nationally. A better understanding of the genetic causes of longevity is expected to have a major impact on the Indian Government's healthcare budget and drug companies' marketing efforts.

About 2,500 blood samples have been collected from Parsis across the country. Being a relatively genetically homogeneous population, the Parsis were ideal for the study. The study will also identify genes that may be linked to age-related neurological conditions such as Alzheimer's and Parkinson's. The study will also focus on two cancers.

Another biotech company, deCode, has in the past undertaken a study to map the gene of the people in Iceland, a decade ago.

Deccan Herald spoke to Villoo Morawala Patell, Founder, Chairman and Managing Director, Avasthagen on the project and its portends. Excerpts:

From blood samples, how exactly do you proceed?

Avesthagen and its partners will collect samples from members of the community along with complete genealogical and medical information. The samples will be processed at the genomics facility at Avesthagen.
The blood sample collected is processed for isloation of DNA, RNA, plasma/serum and peripheral blood mononuclear cells (PBMCs) using industry standard protocols, flash frozen and shipped to the central storage facility at Avesthagen, Bangalore.

The laboratory facilities are equipped with Affymetrix Gene Chipâ System for Whole Genome Wide analysis using SNP6.0 Chip, a high-speed DNA polymorphism analysis system (Sequenomâ, MassARRAY) and ABI sequencer (3730xl) to identify the causative genes. The data will be statistically analysed through Avesthagen’s Bioinformatics platform for processing and creating the database.

At present, biological science is still in the process of unravelling the genes that play a role in longevity in humans. There are recent reports that have identified genes in other organisms that play a role in ageing. The homologs of these genes in humans are currently being studied. The population based genomic study on the Parsi community is one approach that could facilitate the identification of the gene(s) that may be responsible for confering the trait of longevity.

Your project is about a systems biology approach? Can you explain what it means to a layman?

THE AVESTAGENOME PROJECT is a biotechnology-driven study of the Parsi community to determine the genetic basis of their longevity and related health disorders. In addition, the study will generate a model for pharmacogenomics-based therapies, and will aim to come up with therapies and diagnostic tools to understand linkages between genes, diseases and environmental factors.

This systems biology approach will include Genomics, wherein a genome wide analysis for loci associated with longevity and age-related conditions will be performed, Proteomics of the serum proteome for discovery of novel biomarkers (biosignatures), Metabolome analysis that would involve the quantitative measurement of either or both intracellular and extracellular metabolites that will be essential to understand metabolism and regulation of cellular systems, Transcriptome analysis for gene expression profiling, and isolation and preservation of Stem Cells from the participants for potential future therapy and drug discovery. The integration of data from the various platforms will be channelled through our Bioinformatics platform using propriety software to enable novel conclusions for a particular condition. This would give a comprehensive picture of the event(s) that are present or have occurred in a particular individual and then enable comparisons across the population.

At what stage is it in now?

We have completed the blood sample collection drive in Pune, Surat, Navsari, Ahmedabad, Hyderabad. These samples are currently under various stages of analysis.

Study also to focus on two cancers. Are these found more in Parsis?

Parsi Zoroastrians are an in-bred population resulting from the discouragement of inter-community marriages. Such in-bred populations are more likely to have inherited genes linked to diseases. This biotechnology-driven project will aim to come up with therapies and diagnostic tests and to understand linkages between genes, diseases and environmental factors.

How can you project the study to help in predictive diagnostics? And in drug development? pl explain on which component of the study will help here?

Knowing the nature of a certain disease provides the essentials for taking preventive action. However, this knowledge also bears the risk of discriminating against people known to have a predisposition for the disease because of genetic testing done prior to the onset of the illness.

Genetic diagnostics, used to identify genes in a growing number of illnesses and to determine their nature, has become an integral part of modern day medical treatment. Progress in molecular biology and the knowledge gained from human genome over the past few years has made it possible to identify a person’s predisposition to a particular illness long before its potential outbreak. This process, known as predictive diagnostics, helps to determine a patient’s genetic disposition but is not a 100% determinant that a patient will actually contract the disease, let alone when.

All platforms necessary to complete the project are in place. For the Genomics platform, Affymetrix (USA) will partner in co-development of novel diagnostics. Sun Microsystems (USA) is partnering in setting up a state-of-the art Bioinformatics platform. In case of Metabolomics, analysis will be carried out on Applied Biosystems Inc. (USA) equipment, whereas the Proteome will be analyzed on Kratos - Shimadzu (Japan) machines. Stem Cells will be isolated using cell sorter/FACS from Miltenyi/ BD Biosciences.

Did the deCode study on Icelanders ten years ago translate into anything?

The study initiated by deCode has resulted in the identification of genes (loci) that show association with various diseases. These biosignatures are being utiltised for the prediction of disease susceptibility and as drug targets for therapy.