Author: Theresa


EPAS1, the athlete and highland gene

When I started researching this week’s article, I was amazed myself. EPAS1 is a really fascinating protein. So I’ll do my best to try and tell you what is so special about EPAS1. Only so much in advance: it has to do with Tibetans, athletes, oxygen and a long extinct human species. In fact, the only uninteresting thing about EPAS1 is its full name: endothelial PAS domain-containing protein 1. What was breathtaking, in contrast, was the observation that Tibetans almost exclusively carry a certain variant of the EPAS1 gene, which hardly ever occurs in Han Chinese (published in 2010 in science). … Read more


ABL – a Leukemia Gene in a New Context

This week I once again decided on a gene classic. This classic, however, has just been described in a new context. But first, the already well established connection between this gene and a particular form of leukemia leads us back to the early 1960s. It was during these medically exciting years – in which the birth control pill, for example, made its revolutionary introduction – that for the first time a strange-looking chromosome was associated with a severe form of leukemia, chronic myelosis. This strange chromosome was named the Philadelphia chromosome after the location of the first discovery.… Read more


SRY: boy or girl?

Personally, I am particularly interested in genes that do something with us during embryonic development. And hardly any genes make anything more crucial than SRY during our embryonic development. The acronym stands for Sex determining Region on Y-chromosomes and in fact, the name says almost everything.… Read more


BRCA: A patent war on the breast cancer genes

Well, actually there are two BRCA (pronounced “Brakka”) genes: BRCA1 and BRCA2. Few genes have caused so many headlines in recent years as they did. The BRCA genes are so hotly debated as an American biotech company was holding an extremely lucrative patent on these two genes. What that means I would like to explain later; but first, why are BRCA1 and 2 so important?… Read more

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