Title

Developmental Spectrum of Presynaptic Genetic Disorders: STXBP1, PRRT2, DNM1, SYT1

 

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Download invitation letter Download response form

Study website: http://www.mrc-cbu.cam.ac.uk/bingo/

Contact via Email: bingo@mrc-cbu.cam.ac.uk or Telephone 01223 769433

Lead Investigator: Dr Kate Baker
(Programme Leader Track, MRC Cognition and Brain Sciences Unit, University of Cambridge and Honorary Consultant in Clinical Genetics)

Research Assistant:Dr Anna Kolesnik-Taylor

What is the BINGO study?

  • We characterise phenotypes and investigate mechanisms in neurodevelopmental disorders of known genetic origin.

  • Currently we are studying disorders within the Synaptic Vesicle Cycle.

  • Study activities include online questionnaires for parents at present time. We hope to expand our protocols to home visits once it is possible. 

What are the ELIGIBILITY CRITERIA ?

  1. Patient is aged 3 years or older (no upper limit)
  2. Patient has a neurodevelopmental disorder (for example developmental delay, intellectual disability, learning difficulties, autism or epilepsy)
  3. Patient has a pathogenic or likely pathogenic variant, already fed back to families in any gene from this list:
BSN
PCLO
SNAP25
SYNJ1/2
CLTC
PRRT2
STX1A
SYP
CPLX1
RAB11A
STX1B
SYT1
DNM1
RAB11B
STXBP1
TRIO
MINT2
RIM1
SV2A
UNC13A
NRX1
RIM3
SYN1
VAMP2/SYB
NRX2
RPH3A
SYN2

If you are unsure whether a patient is eligible, please contact us to discuss in principle

What are we asking you to do?

Please identify eligible patients (retrospectively or in clinic) then

either

OR

  • Email bingo@mrc-cbu.cam.ac.uk to request a printed information pack (postage paid), for you to post to the parents of an eligible patient

n.b. Patient identifiable data / contact details should not be passed to the project without consent

 

What happens next?

Families who register interest receive more information prior to consent and participation.


We will contact you when a family has consented to participate, and ask you for a copy of their genetics report and a summary letter from your existing records (to supplement parent-reported phenotyping data).

Governance and funding

REC approval: IRAS 83633 (Project Title: Neuroanatomical, Cognitive and Behavioural Phenotypes in Intellectual Disability of Genetic Origin; CI Kate Baker)

This project has UK-wide R+D approval via the NIHR UK Rare Genetic Disease Research Consortium (Muskateers Memorandum)

This project is funded by the MRC and Great Ormond Street Hospital Children’s Charity / Sparks joint funding.