UNCOVERING THE ROLE OF HIDDEN GENES IN BRAIN DISORDERS
Grant number: 1072662 | Funding period: 2018 - 2020
Numerous regions in our DNA influence how likely we are to develop various diseases, including brain disorders such as Autism and Schizophrenia. However, in many of these regions no genes have been found and they appear “empty”, making it difficult to uncover what’s triggering the disease. This project will use a powerful new technology to discover new genes hidden within these supposedly “empty” regions that are important in brain disorders and investigate how they contribute to disease.
Related publications (11)
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10
Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons
The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..
Targeted RNA sequencing enhances gene expression profiling of ultra-low input samples
Fabiola Curion, Adam E Handel, Moustafa Attar, Giuseppe Gallone, Rory Bowden, M Zameel Cader, Michael B Clark
RNA-seq is the standard method for profiling gene expression in many biological systems. Due to the wide dynamic range and complex..
RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.
Guy Helman, Alison Compton, Daniella Hock, Marzena Walkiewicz, Gemma Brett, Lynn Pais, Tiong Tan, Ricardo De Paoli-Iseppi, Michael Clark, John Christodoulou, Susan White, David Thorburn, David Stroud, Zornitza Stark, Cas Simons
The diagnosis of mitochondrial disorders remains a challenging and often unmet need. We sought to investigate a sibling pair with ..
Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene CACNA1C in human brain
Michael B Clark, Tomasz Wrzesinski, Aintzane B Garcia, Nicola AL Hall, Joel E Kleinman, Thomas Hyde, Daniel R Weinberger, Paul J Harrison, Wilfried Haerty, Elizabeth M Tunbridge
RNA splicing is a key mechanism linking genetic variation with psychiatric disorders. Splicing profiles are particularly diverse i..
Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage
Joshua A Betts, Mahdi Moradi Marjaneh, Fares Al-Ejeh, Yi Chieh Lim, Wei Shi, Haran Sivakumaran, Romain Tropee, Ann-Marie Patch, Michael B Clark, Nenad Bartonicek, Adrian P Wiegmans, Kristine M Hillman, Susanne Kaufmann, Amanda L Bain, Brian S Gloss, Joanna Crawford, Stephen Kazakoff, Shivangi Wani, Shu W Wen, Bryan Day
Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing
Michael B Clark, Tim R Mercer, Giovanni Bussotti, Tommaso Leonardi, Katelin R Haynes, Joanna Crawford, Marion E Brunck, Kim-Anh Le Cao, Gethin P Thomas, Wendy Y Chen, Ryan J Taft, Lars K Nielsen, Anton J Enright, John S Mattick, Marcel E Dinger