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?