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 Adults with Rare Genetic Diagnoses
Currently, we are recruiting children, young people, and adults (aged 8 years old and above) based in the UK with a chromatin-based genetic diagnosis from the following list: ACTB, ACTL6B, ARID1A, ARID1B, ARID2, ATRX, BICRA, DPF2, SMARCB1, SMARCA2, SMARCA4, SMARCC2, SMARCE1, SMARCD1.
- Participation in this study will involve completing a range of online questionnaires and carrying out an online interview. If eligible, the participant can also partake in the neuroimaging component of the project (for more information, please see the following videos: Adult MRI, Child MRI, Adult MEG, Child MEG). Neuroimaging-related travel and accommodation expenses will be covered.
We are also looking to recruit children, young people and adults with a diagnosis of SYT1-Associated Neurodevelopmental Disorder (Baker-Gordon Syndrome) for an upcoming study.
- Participation will initially involve completing a range of online questionnaires and an online interview, with the potential for partaking in a home-based electroencephalography (EEG) session at a later date.
Children and Adults without Rare Genetic Diagnoses
We are also recruiting typically developing children (with no history of neurological conditions, learning disabilities, language disorders or major visual impairments) to take part in the following studies:
- A ~2 hour home-based EEG session that involves listening to different auditory stimuli (ages 4 to 10 with no history of hearing impairments).
- An online interview alongside online questionnaires and neuroimaging (if eligible) (ages 8 and above).
Not eligible for current projects? We’d still love to hear from you!
If you’re interested in hearing about future research activities, please feel free to fill out a web form below.
We welcome families of children, young people, and adults (3 years and older) with neurodevelopmental differences (such as developmental delays) or any single gene condition (a small change in DNA affecting one gene) to get in touch with us.
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:
Alumni
Jessica Martin, PhD Student (2021-2025)
Sam Norwitz, MPhil Student (2023-2025)
Edison Thayer, MPhil Student (2024-2025)
Chloe Chia, MPhil Student (2024-2025)
Zhaotian Chi, PhD Student (2020-2024)
Tess Smith, Postdoctoral Research Associate (2023-2024)
Eema Al-Jawahiri, Postdoctoral Research Associate (2022-2023)
Andrea Santangelo, Postdoctoral Research Associate
Josefine Eck, MPhil Student, Research Assistant (2021-2023)
Alice Smail, MPhil Student (2022-2023)
Anna Kolesnik-Taylor, Postdoctoral Research Associate (2020-2022)
Diandra Brkic’, Postdoctoral Research Associate (2018-2022)
Sokahna Kong, MPhil Student (2020-2021)
Emogene Shaw, MPhil Student (2020-2021)
Abinayah John, MPhil Student (2019-2020)
Elise Ng-Cordell, Research Assistant
News
CamRARE’s RAREsummit 2025 round-up
November 13, 2025
The BINGO team were lucky enough to attend the RAREsummit 2025 this November – a celebration of 10 years of collaboration, progress and support within rare disease research, policy and innovation. We attended workshops on the emergence of digital twins and data-driven models of personalised care, listened to inspiring panellists discuss the mental health challenges of both carers and individuals living with rare diseases, and discovered exciting new start-ups founded by parents working to improve technology and treatment approaches across a wide range of conditions. We all left feeling inspired by such a strong community, and by the breadth and depth of work the already being carried out in this field!
For more information regarding the RAREsummit, click ‘read more’ below.
Congratulations to our MPhil students!
November 12, 2025
A massive congratulations to Sam Norwitz, Chloe Chia and Edison Thayer who recently completed their MPhils with the group! Their hard work and dedication has been unwavering, and we look forward to seeing what they achieve next!
Congratulations to Dr Jessica Martin!
November 12, 2025
We are delighted to announce that Dr Jessica Martin has successfully completed her PhD with the group! Throughout her PhD, Jess’s research focused on anxiety and related characteristics in young people with DDX3X-related and CASK-related disorders, exploring bio-behavioural and cognitive factors which might contribute to variability within these populations.
To read more of Jess’s work, click here.
New summary of CASK-related disorder!
November 12, 2025
Read the summary of our recent paper by Martin et al. (2025) on the neurodevelopmental spectrum of CASK-related disorder! Click ‘read more’ to download it as a PDF.
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
2025
Polycomb-associated and Trithorax-associated developmental conditions—phenotypic convergence and heterogeneity
Smail, A., Al-Jawahiri, R. & Baker, K. (2025)
European Journal of Human Genetics, 1-8.
Read a summary of the paper here
The neurodevelopmental spectrum of CASK-related disorder
Martin, J., Mavrogalou-Foti, A., Eck, J., Hattersley, L., & Baker, K. (2025)
Synaptic Function and Sensory Processing in ZDHHC9-Associated Neurodevelopmental Disorder: A Mechanistic Account
Ianov Vitanov, R., Achterberg, J., Akarca, D., Astle, DE., & Baker, K. (2025)
Age-Related Characteristics of SYT1-Associated Neurodevelopmental Disorder
Norwitz, S., Eck, J., Winston, J., & Baker, K. (2025)
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
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
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
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
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
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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