Email to the Student BMJ

Dear Prizzi Zarsadias,

I was inspired by the article in the BMJ published on the 29th October 09, which was also discussed on the BMJ Podcast 'Analysing Aspirin', published on the 6th Novmeber 2009:

Edelman E, Eng C. A practical guide to interpretation and clinical application of personal genomic screening. BMJ 2009;339:b425

I am a fourth year medical student at Dundee university and have recently completed an intercalated BMSc in Human and Molecular Genetics. I was emailing to find out the interest in this area, and whether an article on this subject and looking at the exciting developments in genetics which the future holds would be of interest to the Student BMJ.

Historically, clinical geneticists have been involved in the treatment and management of single gene disorders (monogenic) with low frequency but high morbidity such as Duchenne's Muscular Dystrophy, and chromosomal abnormalities such as Trisomy 21 (Down's Syndrome). Most of the genes involved in monogenic disorders have now been identified and the research emphasis has shifted of late to the polygenic inheritance of complex, common conditions such as Diabetes Mellitus and Alzheimers Disease. Genome-wide association studies have become increasingly popular in the identification of inherited susceptibility markers which increase an individual's chance of inheriting common conditions, such as breast cancer.

Thomas G, Jacobs KB et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009 May;41(5):579-84.

Other topical issues which I would like to write about include the issue of personalised medicines, and the promises and pitfalls of 'gene therapy' medicines. During my intercalated degree I was personally involved in a research project which concerned the development of a gene-therapy for the rare inherited dermatological disorder, Pachyonychia Congenita (www.pachyonychia.org). The treatment has since been involved in clinical trials in the US and could potentially offer a cure patients affected by this debilitating disease.

I think that some of the topics mentioned above would be of great interest to medical students and would be happy to submit an article covering some of the above topics for the journal. I'd be grateful for your opinion on this,

Yours faithfully,

Gordon Hale
4th Year MBChB