My paper on connexin deafness in Africans

It’s my second published paper; this time I am the first author! I’m not going to go into much detail on this because it’s not really of general interest and the paper itself is only a few pages long. In short, we examined two connexin genes, GJB6 and GJA1, to see whether there are changes in the gene sequences that may cause deafness in Africans. GJB6 is known to cause deafness, usually with GJB2, in Europeans and earlier research, later shown to be mistaken, had suggested GJA1 might play a role in deafness in Africans. We didn’t find any evidence that mutations in either gene cause deafness in patients from Cameroon or the Xhosa population of South Africa. Continue reading

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My first scientific paper!

My first scientific paper has been published in BMC Medical Genetics and is freely available over here! I did the molecular work as a minor part of my MSc thesis, which concerns connexin deafness in Black Africans. This paper describes two Cameroonian patients with keratitus-icthyosis-deafness (KID), a rare form of syndromic deafness. This is the first time KID has been described in sub-Saharan Africa and we show that it’s caused by the same mutation as in most other described cases. This is very different to non-syndromic deafness but that will be explained in a future paper which will present a much larger portion of my MSc work.