Find out more about how we include the voice of people with a learning disability and their supporters at Mencap.
Why does inclusion matter?
People with a learning disability need to have their voices heard. At Mencap we make sure all our work is guided by them.
Successful campaigns like Hear My Voice show that the personal experiences of people with a learning disability are influencing all parts of Mencap’s work. We have inclusion groups across England, and an advisory forum, which reports to our trustees.
We listen to and value the contributions our groups make. If you have a learning disability and would like to get involved in our work, read on to find out more!
Our vision statement makes it clear that we want people with a learning disability to be listened to and included in all aspects of life. Mencap campaigns to make sure this happens , so having the voices of people with a learning disability included in everything we do is essential.
Find out more!
If you would you like to get involved or find out more, we’d love to hear from you.
Inclusion is at the heart of everything we do at Mencap, drop an email to Inclusion@mencap.org.uk if you have any questions!
Different topics are discussed at each meeting, and there are sometimes visitors from outside of Mencap, such as the BBC or RSPCA for example. We aim to give first-hand experience of what people with a learning disability need and want to happen. Our work is made much stronger by listening to the people we support first.
About the Voices Council
The Voices Council work in partnership with Mencap’s trustees and leadership team to provide insight, advice and support, to help inform and influence their plans and decisions.
We plan to host an annual event to bring together more people with learning disabilities to share their views on Mencap’s work.
Meet the groups
The two original Inclusion Groups started in 2014 meet often to make sure the views and insights people with a learning disability guide our work at Mencap. The two groups are:
Include Me (based in London)
Our Voices (based in Rotherham)
Membership of the two groups is entirely from people with a learning disability and/or autism, with support provided from Mencap staff.
L’implication du gène RORA dans la déficience intellectuelle vient d’être découverte, par une équipe internationale dirigée par le Dr Claire Guissart, qui travaille dans le Laboratoire de Génétique Moléculaire du CHU de Montpellier, sous la direction du Pr Michel Koenig.
Une découverte publiée ce jeudi 3 mai dans la revue « American Journal of Human Genetics », une des toutes premières revues de génétique humaine et médicale.
« Lorsqu’une mutation génétique survient dans le gène RORA, le fonctionnement de notre système nerveux central est altéré« , explique Dr Claire Guissart. « Cela se traduit par la survenue d’une déficience intellectuelle« .
Il s’agit du second gène impliqué dans la déficience intellectuelle et cérébelleuse identifié par le Dr Claire Guissart.
L’identification de l’implication du gène RORA dans la déficience intellectuelle résulte d’une collaboration entre 11 centres européens et 9 centres américains, menée par les Universités de Montpellier, Nantes, Rennes et Durham (Caroline du Nord).
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
Claire Guissart37, Xenia Latypova37, Paul Rollier37, Tahir N. Khan37, Hannah Stamberger, Kirsty McWalter, Megan T. Cho, Susanne Kjaergaard, Sarah Weckhuysen, Gaetan Lesca, Thomas Besnard, Katrin Õunap, Lynn Schema, Andreas G. Chiocchetti, Marie McDonald, Julitta de Bellescize, Marie Vincent, Hilde Van Esch, Shannon Sattler , Irman Forghani, Isabelle Thiffault, Christine M. Freitag, Deborah Sara Barbouth, Maxime Cadieux-Dion, Rebecca Willaert, Maria J. Guillen Sacoto, Nicole P. Safina, Christèle Dubourg, Lauren Grote, Wilfrid Carré, Carol Saunders, Sander Pajusalu, Emily Farrow, Anne Boland, Danielle Hays Karlowicz, Jean-François Deleuze, Monica H. Wojcik, Rena Pressman, Bertrand Isidor, Annick Vogels, Wim Van Paesschen, Lihadh Al-Gazali, Aisha Mohamed Al Shamsi, Mireille Claustres, Aurora Pujol, Stephan J. Sanders, François Rivier, Nicolas Leboucq, Benjamin Cogné, Souphatta Sasorith, Damien Sanlaville, Kyle Retterer, Sylvie Odent, Nicholas Katsanis, Stéphane Bézieau, Michel Koenig38, Erica E. Davis38 , Laurent Pasquier38 Sébastien Küry38
RORA, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait caused by neurodegeneration of cerebellar Purkinje cells, was discovered two decades ago to result from homozygous intragenic Rora deletions. However, RORA mutations were hitherto undocumented in humans. Through a multi-centric collaboration, we identified three copy-number variant deletions (two de novo and one dominantly inherited in three generations), one de novo disrupting duplication, and nine de novo point mutations (three truncating, one canonical splice site, and five missense mutations) involving RORA in 16 individuals from 13 families with variable neurodevelopmental delay and intellectual disability (ID)-associated autistic features, cerebellar ataxia, and epilepsy. Consistent with the human and mouse data, disruption of the D. rerio ortholog, roraa, causes significant reduction in the size of the developing cerebellum. Systematic in vivo complementation studies showed that, whereas wild-type human RORA mRNA could complement the cerebellar pathology, missense variants had two distinct pathogenic mechanisms of either haploinsufficiency or a dominant toxic effect according to their localization in the ligand-binding or DNA-binding domains, respectively. This dichotomous direction of effect is likely relevant to the phenotype in humans: individuals with loss-of-function variants leading to haploinsufficiency show ID with autistic features, while individuals with de novo dominant toxic variants present with ID, ataxia, and cerebellar atrophy. Our combined genetic and functional data highlight the complex mutational landscape at the human RORA locus and suggest that dual mutational effects likely determine phenotypic outcome.