Neuromag July 2018 - Page 19

Meeting a scientist : Prof . Dr . Peter Heutink - How to find a disease signature in DNA

Interviewed by Anastasia Illarionova
The German Center for Neurodegenerative Diseases or DZNE is part of the Helmholz Association and one of the German Centers for Health Research established to combat the most important common diseases . The DZNE investigates the causes of neurodegenerative diseases such as Alzheimer ’ s and Parkinson ’ s disease among others and develops novel strategies for prevention , treatment , and patient care . There are currently ten DZNE sites that each have their own research focus . The DZNE in Tübingen has a strong focus on genetics and functional studies for disease together with clinical medical professionals . Prof . Dr . Peter Heutink ’ s background is in genetics and over the years his research group has identified genes and risk factors for many diseases including Parkinson ’ s disease and frontal temporal dementia . They continue to search for genetic risk factors for these diseases and to investigate the functional consequences of the mutations in post-mortem human brain samples and cell-based models . I discussed Prof . Dr . Peter Heutink ’ s research with him and a briefly edited version of our conversation follows .
Prof . Dr . Peter Heutink , can you tell me what exactly is genome variation ?
Each human being is a unique individual . The blueprint for a human being is written in her or his genome . Together with influences from the environment , this blueprint determines the phenotype of an individual . There is not a single human genome but the individual genomes of the human population each contain millions of variations in its DNA . New DNA variants keep occurring through new mutations , which can be transmitted to children and in this way spread in the human population . Some of these variants are beneficial and because genetics and evolution are tightly bound to each other , they can increase the evolutionary fitness and can become frequent in our population . Some of them have minute effects or are neutral and some unfortunately are damaging and might even cause a disease . The last category usually remains rare because they reduce the evolutionary fitness .
July 2018 | NEUROMAG | 19
Meeting a scientist: Prof. Dr. Peter Heutink - How to find a disease signature in DNA Interviewed by Anastasia Illarionova The German Center for Neurodegenerative Diseases or DZNE is part of the Helmholz Association and one of the German Centers for Health Research established to combat the most important common diseases. The DZNE investigates the causes of neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease among others and develops novel strategies for prevention, treatment, and patient care. There are currently ten DZNE sites that each have their own research focus. The DZNE in Tübingen has a strong focus on genetics and functional studies for disease together with clinical medical professionals. Prof. Dr. Peter Heutink’s background is in genetics and over the years his re- search group has identified genes and risk factors for many diseases including Parkinson’s disease and frontal temporal dementia. They continue to search for genetic risk factors for these diseases and to investigate the functional consequences of the mutations in post-mortem human brain sam- ples and cell-based models. I discussed Prof. Dr. Peter Heutink’s research with him and a briefly edited version of our conversation follows. Prof. Dr. Peter Heutink, can you tell me what exactly is genome varia- tion? Each human being is a unique individ- ual. The blueprint for a human being is written in her or his genome. Together with influences from the environment, this blueprint determines the pheno- type of an individual. There is not a single human genome but the indi- vidual genomes of the h VVЧFV66F֖Ɩ2bf&F0G2DWrDf&G2VW67W'&rF&VvWrWFF2v66&RG&6֗GFVBF6G&VBF2v7&VBFRVVF6RbFW6Rf&G0&R&VVf6B&V6W6RvVWBЦ72BWfWF&RFvFǒ&VBFV6FW"FW67&V6RFRWfЦWF'fFW72B6&V6Rg&RЧVVBW"VF6RbFVЦfR֖WFRVffV7G2"&RWWG&@6RVf'GVFVǒ&RFvr@֖vBWfV6W6RF6V6RFR7@6FVv'W7Vǒ&V2&&R&V6W6PFW&VGV6RFRWfWF'fFW72धVǒ#UU$r