Wednesday, 2 December 2015

How does studying rare genetic diseases help Parkinson's research?


My name is Alisdair and I am a “Clinical Academic”. This means I spend part of my week as a Consultant in the NHS and the remainder doing research at SITraN. In both aspects of my job I work to understand the genetic causes of diseases affecting the brain in adults and children.

Part of my research involves studying rare genetic diseases which affect the brain, with the aim of increasing our understanding of common brain disorders. A project I am undertaking will investigate whether a condition called DiGeorge syndrome is associated with an increased chance of developing Parkinson’s disease. 


DiGeorge syndrome affects around 1/3000 people and is caused by a small missing piece of chromosome number 22. A single research study suggested that people with DiGeorge syndrome are more likely than people in the general population to develop Parkinson’s disease. To see if this link is true, I am recruiting adults with DiGeorge syndrome from all over Britain and assessing them for symptoms of Parkinson’s disease. We are aiming to recruit around 100 participants. If people with DiGeorge syndrome have an increased chance of developing Parkinson’s disease then this will have important implications for their health. 


If DiGeorge syndrome does predispose to Parkinson’s disease then studying this condition could help us understand better the causes of Parkinson’s disease. The piece of chromosome 22 which is missing in people with DiGeorge syndrome contains several important genes (instructions) for mitochondria. 

Blausen.com staff. "Blausen gallery 2014". Wikiversity Journal of Medicine.
DOI:10.15347/
wjm/2014.010. ISSN 20018762. - Own work. Licensed under CC BY 3.0 via Commons

The mitochondria are the batteries which provide the energy supply to our bodies. For many years it has been known that reduced functioning of mitochondria happens in several brain diseases including Parkinson’s disease. By studying the function of mitochondria in blood samples from people with DiGeorge syndrome we may be able to better understand the role of mitochondria in causing Parkinson’s disease. 


In my experience, the perceived lack of relevance of a rare disease to population health can make it difficult to secure funding. But I believe that these conditions offer unique opportunities to understand the causes of diseases which are common in Britain and so have relevance to population health in general. 

By Alisdair McNeill

Alisdair is a Senior Clinical Research Fellow in Neuroscience & Clinical Genetics research at @INSIGNEO & SITraN groups and a Honorary Consultant in Clinical Genetics at the Sheffield Children's Hospital. You can follow Alisdair on Twitter @am_sheffgenet and on Researchgate.


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