SynGenes · Defining the genetics of grapheme-colour synaesthesia
Horizon 2020 — Marie Skłodowska-Curie Actions
- Duration
- 2016-06-01 → 2018-05-31
- EU contribution
- €171,461
- Participants
- 1
- Scheme
- MSCA-IF-EF-ST
Lines connect the coordinator with its partners.
Results in brief
Defining the genetics of grapheme-colour synaesthesia
Synaesthesia is a neurological phenomenon that causes the boundaries between the senses to become blurred. Approximately 4% of the population experiences synaesthesia, most commonly in the form of colour associations with the days of the week (“Mondays are red”) or months. Most individuals with synaesthesia have no other neurological issues, and many are completely unaware that their perceptions are unusual. This aspect of synaesthesia makes it a compelling window into how natural variation in sensory perception is established. Although reports of synaesthesia running in families date to the late 1800s, the genetic basis of such perceptual differences remains unknown and there are no candidate genes associated with the trait. Our understanding of how the brain generates synaesthetic associations is held back by our inability to study synaesthesia at a cellular or molecular level. Knowing which genes or molecular processes to target in such studies would unlock new opportunities to examine the molecular basis of perception. The scientific objective of this action was to define the genetics of synaesthesia through studies focused on both rare and common genetic variation. Dr. Tilot made significant progress toward this goal during the length of the action, publishing the first set of robust candidate genes for the trait in 2018. Her research suggests that synaesthesia may arise from variants in genes involved in how neurons form connections across the brain during development. This provides direct support for a prominent hypothesis generated from studies in neuroimaging and psychology, that synaesthesia is caused by hyperconnectivity between brain regions. Further studies into whether individuals with synaesthesia have increased genetic risk for other neuropsychological conditions will be completed in the autumn of 2018, utilizing the cohort recruited by Dr. Tilot in combination with additional participants from the Generation Scotland project. The action also provided Dr. Tilot with extensive training opportunities in project management and neurogenetics research, including statistical analysis and writing for scientific and lay audiences. A highlight of the training component of the action was the successful competition for a multidisciplinary Discussion Meeting on synaesthesia, hosted by the Royal Society, which will be held in London in October, 2018. Dr. Tilot is a co-organizer of the meeting and will serve as a guest editor for a special issue of Philosophical Transactions of the Royal Society, Part B that will follow the meeting.
Data: CORDIS, © European Union
Project objective
Synaesthesia is a common neurodevelopmental phenomenon (2-5% of the population) where stimulation of one sense automatically triggers an experience of another. Familial clustering indicates that synaesthesia is highly heritable. However, this genetic contribution is poorly understood and likely heterogeneous, a major hindrance to our understanding of the neurobiology. My objective is to remove this barrier through the most comprehensive interrogation of synaesthesia genetics to date, utilizing state-of-the-art technologies and integrative approaches.This study will focus on individuals who associate letters and numbers with colour (grapheme-colour synaesthesia), as this type of synaesthesia is common and the most reliably measured. I will apply two complementary approaches in parallel. Whole genome sequencing in two newly ascertained multigenerational synaesthesia families will determine the role of rare genetic variants (Work Package 1, WP1), while genome-wide genotyping of 1000 unrelated synaesthetes will unmask contributions from common variation (WP2). Using existing candidates and novel genes discovered in this work, I will perform multi-level in silico analyses to test if genetic information supports the prevailing theory of neural hyperconnectivity as an underlying aetiology (WP3). WP1-3 will help to define the genetic landscape of synaesthesia, while opening novel research avenues into the neurobiology of sensory perception.This fellowship will provide a diverse set of stepping-stones toward my professional goal of becoming an independent researcher in the rapidly advancing field of neurogenetics. The research and training plans will deepen my current skillset and add a suite of complementary informatics skills that will significantly enhance the quality and competitiveness of my scientific career. The multi-platform dissemination and public outreach strategy involves both the scientific community and main stakeholders at the major milestones (WP4).
Original text from CORDIS.
Participants
- MAX-PLANCK-GESELLSCHAFT ZUR FORDERUNG DER WISSENSCHAFTEN EV · MUNCHENCoordinatorGermany
Links
Data: CORDIS, © European Union