Applied Bimatics - An Informatics & eHealth Blog

I am a clinician with a passion for informatics. This blog is about my eHealth journey exploring interoperability in Electronic Medical Records (EMR/EHR), Patient Safety, Pharmacovigilance, Data Analytics, Clinical Research and Bioinformatics in a clinical context. Comparing Canadian, Indian and Middle Eastern healthcare systems and services. Join our open facebook group here: https://www.facebook.com/groups/clinical.bioinformaticians/


3rd Pan Arab Human Genetics Conference

The things I learnt from the conference.

Papillon Lefvre syndrome is common in Soudi Population.

South Indians, especially Keralites have high incidence of certain SNPs in cytochromes responsible for Cyclosporine and Tacrolimus metabolism. Both these drugs are commonly used by dermatologists. Has anyone noticed higher efficacy of Tacrolimus in Keralites, especially when used for vitiligo?

Copy number variations (CNV) are as frequent as SNPs and have high impact on the phenotype.


Elaborating on the last point, I have recently been doing some work on SNPs in hair disorders. But after hearing the lecture on CNVs I feel we are probably giving undue importance to SNPs. If I understand it correctly we have a pair of each chromosome (except sex chromosomes) and hence have a pair of most genes. So an SNP in a single gene may not have any effect as there is another pair of same gene without the SNP. Now consider a situation where a chunk of this chromosome is deleted or duplicated. All the SNPs in the corresponding region have a higher chance of having a phenotypic manifestation. These CNVs are not rare as I used to think. Do we have a database of CNVs?

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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