Several medical centres, research institutes (including CDFD) and hospitals located
in different regions of the country have been actively conducting routine screening
of patients for various genetic disorders. The data generated at these centres are
very precious as these not only give information on the type and prevalence of genetic
disorders in the Indian population but also are useful to the researchers in the fields
such as anthropology, community genetics, bioinformatics, epidemiology and molecular genetics.
In order to accumulate and make these data readily available in a highly annotated and useful
form, a project has been initiated on a pilot basis to develop a database of genetic disorders
and also a web-portal which hosts the national database. To begin with, we are focussing
following genetic disorders:
Hemoglobinopathies
Aminoacidopathies
Neuro-muscular disorders
Coagulation disorders
Lysosomal storage disorders
We have developed an Electronic Medical Record System called CEMeRS (CDFD Electronic Medical
Record System) to collect the diagnostics data (Mudunuri et al .,communicated).
The national web-portal under development will have the following information:
A concise summary on prevalence of genetic disorders in India with relevant statistics extracted from analyses of data carried out at regular time intervals
A directory of diagnostics services, various teaching/training programs, workshops and symposia conducted in India.
Hyperlinks to various databases (for example link to Gen Bank where it is necessary to get information regarding the sequence of a gene harbouring a mutation) of similar kind available from various web-portals across the world.
Dr. H A Nagarajaram
