MRC Cognition and Brain Sciences Unit
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What is the BINGO Project?
If you are interested in taking part in the BINGO project, please click on ‘Register Now’ and complete the contact form – we will contact you with more information, before you decide whether to take part.
This project brings together developments in genetics, psychology, and brain sciences. We want to understand the range of problems that affect individuals with neurodevelopmental disorders, after a rare genetic cause has been found. We also want to understand how genetic differences affect brain function. In future, the information we gather might make it easier to support people with neurodevelopmental conditions, because we will have a better understanding of which patterns of difficulty are associated with each cause, and why these patterns of difficulty occur.
Who can take part in the BINGO project?
Children and adolescents (3-18 years old) with neurodevelopmental difficulties, e.g. developmental delay, and any single gene disorder (a spelling difference in DNA affecting one gene).
What does the BINGO project involve?
Here are some of the research activities which may be offered, depending on your child’s age and specific genetic diagnosis. Click on each activity to find out more.
Register your interest
If you and your family would like more information about the BINGO project, or to register your interest in taking part, please complete the below form. Alternatively, you can email bingo@mrc-cbu.cam.ac.uk By sending us a message you are not committing to taking part.
(Items marked with an asterisk are mandatory)
The BINGO team
BINGO is a research project involving researchers from the MRC Cognition and Brain Sciences Unit (CBU) at the University of Cambridge.
If you have any questions or wish to discuss the project, you can contact our team using this email address:
News
New article in Unique’s Spring Magazine!
May 8, 2024
We recently wrote an article in Unique’s Spring Magazine 2024 – a must read for the rare chromosome and gene disorder community! Sign up to receive emails from Unique here.
Click the link below and read the story behind the BINGO project, what families say about their experience with us as well as our previous and current research activities.
New Mobile EEG System for At-Home Visits!
April 25, 2024
Our BINGO team recently obtained a brand new state-of-the-art mobile EEG system! This cutting-edge technology is lightweight, portable, non-invasive and allows researchers to collect high-quality and real-time brain activity outside the confines of traditional laboratory environments.
Celebrate Rare Disease Day with us!
February 9, 2024
We are happy to celebrate Rare Disease Day – the official international awareness campaign for rare diseases!
Rare Disease Day happens every year on the last day of February. This year, on 29th February 2024, the rare disease community will come together to raise awareness and generate change for the 300 million people worldwide living with a rare disease, their families, and carers.
Happy New Year from the BINGO Project!
January 8, 2024
Thank you to everybody who has taken part in BINGO project activities. The information you provided is incredibly valuable and has allowed us to better understand the range of challenges faced by individuals with rare genetic conditions, as well as how specific gene differences can affect brain function.
New paper on the social and emotional characteristics of individuals with DDX3X variants
August 10, 2023
Read our summary of a study conducted in young girls and women on the social and emotional characteristics of individuals with DDX3X variants.
New review paper on CACNA1A variants
September 5, 2022
Read the summary of our recent review paper where we explore previous research literature and report a new case of a child with CACNA1A variants.
Publications
2024
Cerebral visual impairment: genetic diagnoses and phenotypic associations
Shaw, E., Flitcroft, I., Bowman, R., & Baker, K. (2024)
2023
Social and emotional characteristics of girls and young women with DDX3X-associated intellectual disability: a descriptive and comparative study.
Ng-Cordell, E., Kolesnik-Taylor, A., O’Brien, S., Astle, D., Scerif, G., & Baker, K. (2023).
Journal of Autism and Developmental Disorders, 53, 3208-3219.
Read a summary of the paper here or download it as a PDF here
2022
FarmApp: a new assessment of cognitive control and memory for children and young people with neurodevelopmental difficulties.
Brkic, D., Ng-Cordell, E., O’Brien, S., Martin, J., Scerif, G., Astle, D., & Baker, K. (2022).
Child Neuropsychology, 28(8), 1097-1115.
Read a summary of the paper here or download it as a PDF here
Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.
Wong-Spracklen, V. M. Y., Kolesnik, A., Eck, J., Sabanathan, S., Spasic-Boskovic, O., Maw, A., & Baker, K. (2022).
American Journal of Medical Genetics PART A, 188A, 3306-3311.
Read a summary of the paper here or download it as a PDF here
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., Lewis-Smith, D., Galer, P., Cunningham, K., O’Brien, M., Cosico, M., Baker, K., Darling, A., … Helbig, I. (2022).
Expanding the genotype and phenotype spectrum of SYT-1 associated neurodevelopmental disorder.
Melland, H., Bumbak, F., Kolesnik-Taylor, A., Ng-Cordell, E., John, A., Constantinou, P., Joss, S., Larsen, M., Fagerberg, C., Laulund, L. W., Thies, J., Emslie, F., Willemsen, M., Kleefstra, T., Pfundt, R., Barrick, R., Chang, R., Loong, L., Alfadhel, M., … Baker, K. (2022).
Genetics in Medicine, 24(4), 880-893.
Read a summary of the paper here or download it as a PDF here
2021
The neurodevelopmental spectrum of synaptic vesicle cycling disorders.
John, A., Ng-Cordell, E., Hanna, N., Brkic, D., & Baker, K. (2021).
Journal of Neurochemistry, 157(2), 208-228.
Read a summary of the paper here or download it as a PDF here
2020
Gene functional networks and autism spectrum characteristics in young people with intellectual disability: A dimensional phenotyping study.
Brkić, D., Ng-Cordell, E., O’Brien, S., Scerif, G., Astle, D., & Baker, K. (2020).
2019
STXBP1-associated neurodevelopmental disorder: A comparative study of behavioural characteristics.
O’Brien, S., Ng-Cordell, E., Astle, D. E., Scerif, G., & Baker, K. (2019).
2018
SYT1-associated neurodevelopmental disorder: A case series.
Baker, K., Gordon, S. L., Melland, H., Bumbak, F., Scott, D. J., Jiang, T. J., Owen, D., Turner, B. J., Boyd, S. G., Rossi, M., Al-Raqad, M., Elpeleg, O., Peck, D., Mancini, G. M. S., Wilke, M., Zollino, M., Marangi, G., Weigand, H., Borggraefe, I., … Raymond, F. L. (2018)
2015
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
Baker, K., Gordon, S. L., Grozeva, D., van Kogelenberg, M., Roberts, N. Y., Pike, M., Blair, E., Hurles, M. E., Chong, W. K., Baldeweg, T., Kurian, M. A., Boyd, S. G., Cousin, M. A., & Raymond, F. L. (2015).
Family resources
We are pleased to announce that we are collaborating with various charities that aim to support people and families affected by genetic and brain disorders.
These organisations have global networks of families. They provide information and practical guides, as well as links to local groups and community events/activities.
Please visit their websites to find out more and become a member.
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We are grateful for support from the following funders
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