Avera Medical Minute AMcK: Researching the human genome

You probably wouldn't guess it, but some of the world's foremost genetics research is happening right here in South Dakota. Last Fall we introduced you to the rare partnership that Avera has with genetics research in the Netherlands. Now we'll give you a closer look at the research being done.

At the Avera Institute for Human Genetics, scientists continue to dive into the deep end of the gene pool.

"Things just continue to amaze me on how we progress and the findings we find!" Said Dr. Gareth Davies, a molecular geneticist and the scientific director for the institute.

Thanks to the collaboration with the Netherlands Twin Registry, researchers here in Sioux Falls have access to more than 40,000 DNA samples to help further their study.

"They (the samples) are stored with their co-twin and also with their parents; so each row we have two twins and then mom and dad." Said Dr. Davies.

Studying twins gives scientists a better understanding on the role genetics play in behaviors and disease because identical twins share the same DNA; that is until you look very closely.

"What we find is that if you look at copy number variations not all identical twins need to be completely identical." Said Dr. Dorret Boomsma of Vrije University in Amsterdam and pioneer of the Netherlands Twin Registry.

A copy number variation or CNV is when a chromosome that makes up a gene is either added or deleted. Take for example if I had a twin. Our DNA is identical but for one of my genes, the chromosome makeup is A-B-C-D and for my twin that same gene makeup is A-B-C-C-D. That extra "C" is the only difference, but it could be what causes different behavior traits or disease susceptibility between us two. However, just having a gene linked to disease doesn't put you at risk.

"We have known that they can be switched on and switched off but we didn't realize how important the environment was, the environment outside the cell, and how it could affect the structure of the DNA and alter how those genes are switched off and on." Said Dr. Davies.

Research continues to support the thought that genetics may load the gun, but it's the environment that pulls the trigger.

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Avera Medical Minute AMcK: Researching the human genome