This week’s guest is Ewen Sommerville, a postdoc looking at ways to diagnose metabolic and mitochondrial diseases. Ewen is also new to science blogging and communication and he walks us to his scicomm goals.

Mitochondrial diseases are heterogeneous—it may have more than one cause. This differs from a homogeneous disease where, in a group of patients,  the disease is the same for all of them. As Sommerville explains, heterogeneous diseases can affect anyone at any time during their lives, which includes children, babies before or after birth, or adults very late in their life.

The basis of this stems from the function of the mitochondria, which are found in almost every cell in our body. A lot of the dysfunction associated with mitochondrial diseases can be caused by pathogenic variants in the mitochondrial DNA. The mitochondria each carry multiple copies of mitochondrial DNA and a damaging mutation to the mitochondrial DNA can cause a mitochondrial disease, which can be passed on from mother to child since mitochondria are passed down maternally. Mitochondrial diseases could be Mendelian so you could have mitochondrial disease caused by inheriting one bad nuclear gene mutation from your mother and another from your father. The clinical presentations of mitochondrial disease can be very catastrophic, ranging from catastrophic fetal disorders all the way to a very mild disease with little muscle weakness or paralysis of the eye muscles; it’s a very broad disorder.

Sommerville’s interest in science communication started with writing manuscripts. He says he found the process exciting, from sitting down to draft a manuscript, propose an outline, and prepare figures for publication but he never really got the opportunity to write anything other than manuscripts. Most of his writing was aimed at scientists—who are almost certainly going to be the majority people who end up reading research articles—but he says there’s nothing really there for the public or the wider public. For this reason, he was keen to start his own science blog as a way of trying to communicate some aspects of science which are not necessarily talked about, or not necessarily conveyed as well, or as frequently as they should be.

Check out Ewen Sommerville’s blog and follow him on social media:

• Blog: https://ewensommerville.com/
• Facebook: https://www.facebook.com/ewsommerville/
• Twitter: https://twitter.com/ewsommerville