MDS-ES Genetics of Parkinson’s Disease
- MDS-ES Genetics of Parkinson’s Disease
Lectures and associated resources available October 16, 2020
Live Q&A session October 16, 2020 from 15:00-19:30 CEST
Vincenzo Bonifati, MD, PhD
Andreas Puschmann, MD, PhD
Enza Maria Valente, MD, PhD
Isabelle Le Ber, MD, PhD
Alastair Noyce, MD, PhD
Andrea Németh, BSc, MB.BS, PhD
Anneke Kievit, MD, PhD,
This course provides the state-of-the art of the genetics of Parkinson’s disease and of parkinsonism-dementia overlap forms, also including information on the technologies used for genetic testing, and the principles of clinical genetic counselling.
At the dawn of the era of personalized molecular medicine, both the clinicians and scientists interested in these diseases, should to be equipped with accurate and updated information about their genetic underpinnings. This course aims to address this important emerging educational need.
The genetic studies of the recent years delineated a complex and heterogeneous architecture for the etiology of Parkinson’s disease, and of the related parkinsonism-dementia overlap forms, with different types of genetic factors involved in different patients, and in different areas of the world.
Highly-penetrant mutations in each of several genes can cause relatively rare, monogenic forms of these diseases. Furthermore, variants with incomplete penetrance in at least two genes (LRRK2 and the GBA) act as strong risk factors for Parkinson’s disease development, and are especially prevalent in some populations. Last, common variants of small effect size, modulating the risk to develop the disease, have been identified by genome-wide association studies in many chromosomal loci, in the common forms of Parkinson’s disease.
These genetic discoveries illuminate the disease mechanisms, paving the way for the identification of novel targets for personalized molecular therapies aimed at disease-modification. The first of these targets are currently under pre-clinical or early clinical development. At the same time, the genetic discoveries have implications for the clinical practice, by enabling faster and accurate diagnosis, and better management and counselling for patients and their relatives.
- Live Question and Answer
- “Ask the Expert” Panel Discussion
Neurologists, Clinical Geneticists, Basic Scientists interested in Movement Disorders; residents in Neurology and Clinical Genetics; PhD students in Clinical Genetics, Neuroscience, Molecular Medicine.
- Summarize the clinical and genetic features of Parkinson’s disease associated to highly-penetrant variants in dominant or recessive genes;
- Summarize the clinical and genetic features of inherited forms of parkinsonism-dementia;
- Discuss the role of common variants in Parkinson’s disease risk and progression;
- Discuss the different methods to perform genetic testing;
- Recognize the relevance of genetic counseling in the work-up of patients with genetic forms
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME). The International Parkinson and Movement Disorder Society is accredited by the ACCME to provide continuing medical education for physicians.
Credit Designation Statement:
The International Parkinson and Movement Disorder Society designates this activity for a maximum of 4.00 AMA PRA Category 1 Credits™. Physicians should only claim credit commensurate with the extent of their participation.
Participants must complete an evaluation for each session they attend to receive continuing medical education credit. Your chosen session(s) must be attended in their entirety. Partial credit for individual sessions is not available.
Content Validity Statement:
All recommendations involving clinical medicine in MDS activities are based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the case of patients. All scientific research referred to, reported or used in CME in support or justification of a patient care recommendations conforms to the generally accepted standards of experimental design, data collection and analysis. Activities that promote recommendations, treatment or manners of practicing medicine not within the definition of CME or are knowing to have risks or dangers that outweigh the benefits or are knowing to be ineffective in the treatment of patients do not constitute valid CME.
Disclosure of Financial Relationships:
All individuals in control of content for this webinar are required to disclose all relevant financial relationships with commercial interests as defined by the ACCME.