Clinical translation
We aim to benefit patients with neurodegenerative diseases by tanslating our scientific findings into the clinic.
Clinical application, use of genetics in clincal care:
In our section we aim to identify novel genetic elements that increase the vulnerability of neurodegenerative diseases, and those that lead to an increased chance to reach extreme ages with maintained cognitive health. With our clinical team we aim to implement our findings into the clinical care of patients with dementia. We offer counselling and genetic testing to patients who visit the Alzheimer Center Amsterdam and who have a possible genetic predisposition for neurodegenerative diseases. We have three research focusses:
(1) to detect previously identified autosomal dominant genetic variants in families affected with neurodegenerative diseases, such that these patients and their family members can be referred to clinical geneticists specialized in counselling such affected families,
(2) using state-of-the art genetic sequencing techniques, to identify novel genetic variants which may explain the disease in affected families with neurodegenerative diseases for whom no genetic predisposition was detected using standard methods;
(3) to investigate the emotional impact of genetic testing of neurodegenerative diseases on patients and family members (collaboration with Jetske van der Schaar).
Our clinical team conists of:
Dr. Sven van der Lee
Dr. Sven van der Lee is a medical doctor and geneticist and he leads our aim to a fast implementation of novel findings from fundamental research into the clinic. After becoming an MD at the Leiden University Medical Center in 2011, he went on to obtain his PhD at the genetic epidemiology unit at the ErasmusMC in Rotterdam. During his PhD, he contributed to the discovery of several genetic factors that influence the risk of developing Alzheimer’s disease. Since 2017 he continued his search for novel factors at the Department of Human Genetics and the Alzheimer Center at the Amsterdam UMC . Dr. van der Lee is sponsored by a Memorabel fellowship from ZonMw, the ABOARD project and donations from the Edwin Bouw Fonds.
Dr. Petra Cohn-Hokke
Dr. Petra Cohn-Hokke is a clinical geneticist specialized in heritable dementia at the Amsterdam UMC. Dr. Cohn-Hokke completed her medical training at the Amsterdam UMC in 2008. She completed her training for clinical geneticist in 2015 and studied heritable dementia and the impact of finding a genetic cause in cooperation with the Amsterdam Alzheimer Center, and she obtained her a PhD in 2017. In 2019 she returned to the Amsterdam UMC to work as a clinical geneticist at the outpatient clinic of the Department of Human Genetics where she focuses on the research of families with dementia.
