Gene Discovery in Large Multiplex Families with Autism Spectrum Disorders
Grant number: 1044175 | Funding period: 2013 - 2015
Autism spectrum disorders (ASD) are neurodevelopmental disorders of childhood with lifelong impact. ASD are characterised by deficits in communication, language development and restricted behaviours or interests. ASD have a genetic basis likely due to multiple genes but the cause is not known in more than 75% of cases. This project will discover genes associated with ASD by studying large families in which several children have ASD and identify new targets for treatment.
Related publications (4)
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype
Krysta J Trevis, Natasha J Brown, Cherie C Green, Paul J Lockhart, Tarishi Desai, Tanya Vick, Vicki Anderson, Emmanuel PK Pua, Melanie Bahlo, Martin B Delatycki, Ingrid E Scheffer, Sarah J Wilson
Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implement..
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernandez, Natasha J Brown, Kate Pope, Cherie C Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J Lockhart
We have generated and characterized seven human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononucle..
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
Holly AF Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic gen..