Tuesday 6th October 2020
Genetic factors in Parkinson’s: cause or modifier?
Inaugurated in 2012, the Edinburgh Parkinson’s Lecture has become a flagship annual event for the Edinburgh Branch and for the wider Parkinson’s community in Scotland. Each year the Lecture attracts internationally renowned experts to inform and educate a live audience and to review progress in the fight against Parkinson’s.
This year’s Lecture was delivered on Tuesday 6th October 2020 by the eminent Neurologist Professor Christine Klein. The title of Prof. Klein’s Lecture was: Genetic factors in Parkinson’s: cause or modifier?
This year for the first time the Lecture took place as a live streamed online event and was watched by more than 800 people, mostly from Scotland and the rest of the UK, but also from continental Europe, America and Asia. People affected by Parkinson’s made up 60% of the audience.
Prof. Klein began by explaining that mutations in genes such as Parkin, PINK1 and LRRK2 cause PD, while mutations in other genes, such as GBA, are major risk factors for the development of PD. Mutations in these genes can be traced through families and can be used for genetic counselling. She emphasised that, in order to properly understand the role of genetics in PD, it was essential to monitor disease progression.
Gene-specific clinical trials are already underway, or are planned, for individuals with rare mutations that have major effects leading to early onset PD. There are hundreds of other more common genetIc variants scattered throughout our DNA that each make much smaller contributions to the genetic risk of developing PD. However, these can act together to increase genetic risk.
In these situations environmental risk factors may play a more important role in the development and progression of PD. Prof. Klein explained how these minor genetic risk factors can also be identified and that other genes, known as modifiers, can act to increase or decrease their contribution to the genetic risk of developing PD. Prof. Klein discussed the difficulty, even with all the relevant genetic information available, of being able to predict accurately how PD would progress in individual patients with a PD-causing mutation. Wide variations in age of onset and presence and severity of different motor and non-motor symptoms are found in individuals with mutations in the same PD-causing gene. The situation is further complicated by the lack of available information about some symptoms in many patients and the way that this missing information is interpreted by experts.
Prof. Klein concluded her Lecture by stressing the importance of using all the available genetic information to stratify patients in future clinical trials so that new therapies, targeted against specific molecular changes in PD, are only evaluated in the groups of patients who are most likely to benefit.
The Lecture was followed by a very lively Question & Answer session. More than 60 questions were submitted during the Lecture and the audience were able to vote to identify the most popular questions for Tilo Kunath to put to Prof. Klein. Priority was also given to questions from People affected by Parkinson’s. Prof. Klein gave very clear and concise answers even though some of the questions were outside her direct area of expertise and the session was extended to allow more questions to be asked.
Online donations after the Lecture raised £1100 for Parkinson’s research. Thanks to Prof. Klein and to all those who watched and donated.
The Lecture was organised and funded by the Edinburgh Branch of Parkinson’s UK, with generous support from: