<p>A brief thank you film to people involved in the project</p>

A brief thank you film to people involved in the project

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This website would not have been possible without a vast number of contributions from a wide range of individuals.


Special Thanks to

All the families and individuals with rare genetic syndromes who took part

Effie Pearson for web content development & Steve Crawford for video development and production.

The syndrome support groups who supported this project:  Kleefstra syndrome support groupCri du Chat syndrome support group, ASSERT, Fragile X Society, Prader-Willi Association, Cornelia de Lange Association UK & Ireland, Smith-Magenis Foundation; UNIQUE



Aston University

Birmingham Community Healthcare NHS Trust


Economic and Social Research Council (ESRC)


Website Content and Development Lead

 Jane Waite


Website Concept

Chris Oliver

Jane Waite

Jo Moss





Content Development Team


Effie Pearson

Poonam Virdee

Georgie Agar

Laura Groves

Manjeet Susch

Iman Hassan

Hannah Ramshaw

Miriam Chaudhry

Amna Karim

Edward Ingram

Julie Shackleton


Website Administrators

Jane Waite, Efiie Pearson, Adele Gnandte, Georgie Agar, Rachel Royston, Tracey Grandfield, Hannah Ramshaw, Miriam Chaudhry, Amna Karim, Edward Ingram, Julie Shackleton



Chris Oliver, Jane Waite, Effie Pearson, Poonam Virdee, Jo Moss, Lucy Wilde, Leah Bull, Mary Heald, Hayley Crawford, Victoria Johnson, Lisa Nelson, Gemma Griffith, Jane Petty, Penny Tunnicliffe, Richard Hastings, Pat Howlin, Leah Bull, Darrelle Villa, Michael Yip, Amna Karim, Edward Ingram and Julie Shackleton


Media Production

Steve Crawford (CreativoCrawford), Storyworks, Jane Waite, Mark Ray & Steve Broster (Creative Media – University of Birmingham)


Media Contributions

Caroline Richards, Sissy Stefanidou, Deborah Allen, Daisy Twigger, Katherine Ellis, Jessica Penhallow, Lisa Cochran, Jayne Trickett, Alice Welham, Efthalia Karakatsani, Dawn Adams, Lucy Wilde, Hayley Crawford, Victoria Johnson, Mary Heald, Iman Hassan, Manjeet Susch, Laura Groves, Deborah Allen, Leah Bull, Bernard Dan, Jill Clayton Smith, ASSERT, Sandra Tallon (Original Director and Producer of ASSERT videos), Cornelia de Lange Foundation UK & Ireland, Cri du Chat support group, Cerebra

All of the families and individuals with genetic syndromes who were interviewed for this website (visit our ‘about me’ section to read more about these individuals)


Role Play Actors

Elizabeth Lloyd-Raynes, Phoebe Brown, Andrew Baker, Elisabeth Payne, Amy Gornall, Ella Jarman


Visual Resources

Dr. Charlie Williams at the University of Florida - Angelman Chromosome Images



Contribution of Measures

Sandra Merkel, University of Michigan School of Nursing – FLACC Scale


Internal Peer Reviewers

 Mary Heald, Chris Oliver, Tracey Granfield, Lucy Wilde, Hayley Crawford, Kate Woodcock


External Peer Reviewers

David Fitzpatrick, Jill Clayton-Smith, Mohnish Suri, Alison Male, Raoul Hennekam, Joyce Whittington, Jane Roberts, Kate Woodcock