Skin Deep - Clinical & Cosmetic Dermatology Blog

Skin Deep is a blog for dermatologists and skin care professionals with focus on theoretical, cosmetic and aesthetic dermatology. This blog is associated with ‘Dermatologists Sans Borders’ one of the largest curated groups of skin care professionals on facebook. If you are looking for non-technical information, please visit http://skinhelpdesk.com


#MapMyGenome

Animation of the structure of a section of DNA...
Animation of the structure of a section of DNA. The bases lie horizontally between the two spiraling strands. (Photo credit: Wikipedia)

How many times your psoriasis or vitiligo patients wanted to know the risk of their kids developing the disease? I am sure you have also noticed the horror on the face of the adolescent staring  at his father’s shiny bald scalp or the young girl seeing the undeniable stain of melasma spreading on her mother’s face. All these conditions are neither life threatening nor debilitating, but the psychological morbidity is enormous. We have also prayed in silence before starting Imuran for the CAD patients in distress hoping that they were not unlucky enough to be in the 0.3% with faulty TPMT.

We have been trying to reduce their anxiety by giving the general risk of inheritance till now, but we will soon be empowered to give the specific risk of the individual based on his/her genetic makeup. The technology has been there for sometime to screen specific areas of an individual’s genome (DNA) to identify SNPs (snips) that could make your risk prediction more accurate, but it was beyond the reach of most people especially in countries like India.

Ms. Anuradha Acharya, the young biotech entrepreneur who leveraged  Indian bioinformatics expertise with Ocimum bio solutions is doing it again with mapmygenome, a ‘personal genomics’ initiative to take this technology to the masses. It is still in early stages and it covers only Lupus, Melanoma and Psoriasis from a dermatologist’s list of potential interest, but more specific test series will be available soon. All you need to provide is a saliva sample with a swab.

The potential benefits go beyond risk prediction and prognostic applications. Once enough data is available, the depersonalised population statistics would be an invaluable research tool for Indian population geneticists. More information about this, including how to order the test is available from the website http://mapmygenome.in/ .

Special thanks to Ms. Acharya for finding time to brief me on this.


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About Me

As a Dermatologist and Informatician my research mainly involves application of bioinformatics techniques and tools in dermatological conditions. However my research interests are varied and I have publications in areas ranging from artificial intelligence, sequence analysis, systems biology, ontology development, microarray analysis, immunology, computational biology and clinical dermatology. I am also interested in eHealth, Health Informatics and Health Policy.

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Bell Raj Eapen
Hamilton, ON
Canada