Welcome to the Robison Lab at UFBR, where we are working to further understand the genetics of neurodevelopmental disorders such as Autism and Fragile X Syndrome, and to develop novel targeted therapies for these conditions.
Principal Investigator: Reid J. Robison, MD MBA
Email: reid at utahresearch dot org
Specifically, our work includes:
1. Gene finding in Autism Spectrum Disorders & other neurodevelopmental conditions where the etiology is unknown (or poorly understood).
- Using CLIA-certified whole genome sequencing and advanced bioinformatics tools to uncover the genetic underpinnings of brain-related disorders, including autism, intellectual disability and mental retardation.
- In collaboration with Dr. Gholson Lyon at CSHL and Dr. Kai Wang at USC and others.
2. Development of novel, genetically-informed, targeted treatments for Autism Spectrum Disorders and Fragile X Syndrome.
- High-throughput in silico screening of compounds for Fragile X Syndrome and Autism to target specific receptors and pathways implicated in these conditions.
- Testing of candidate compounds in animal models, including the drosophila model of Fragile X and Fragile X knockout mice.
3. Methods & algorithm development for the analysis of next-generation sequencing data.
- Cloud-based approaches to the analysis of large datasets of whole genomes and whole exomes from family-based and case-control studies, using advanced annotation, filtering, step-wise reduction, statistical & probabilistic modeling.
- Use of machine-learning for disease-gene & biomarker discovery.
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person. PeerJ. 2013 Oct 3. O’Rawe JA, Fang H, Rynearson S, Robison R, Kiruluta ES, Higgins G, Eilbeck K, Reese MG, Lyon GJ.
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet. 2011. Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H, Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C, Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA, Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A, Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP, Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E, Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ, Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL, Williams NM, Nelson SF, Faraone SV, Hakonarson H.
Exome Sequencing and Unrelated Findings in the Context of Complex Disease Research: Ethical and Clinical Implications. Discov Med. 2011. Lyon GJ, Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang K.
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency. Am J Hum Genet, 2011. Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison RJ, Dalley B, Chin S, South S.
Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Mol Psychiatry. 2012 Jul;17(8):818-26. doi: 10.1038/mp.2011.89. Epub 2011 Jul 19. Badner JA, Koller D, Foroud T, Edenberg H, Nurnberger JI Jr, Zandi PP, Willour VL, McMahon FJ, Potash JB, Hamshere M, Grozeva D, Green E, Kirov G, Jones I, Jones L, Craddock N, Morris D, Segurado R, Gill M, Sadovnick D, Remick R, Keck P, Kelsoe J, Ayub M, MacLean A, Blackwood D, Liu CY, Gershon ES, McMahon W, Lyon GJ, Robinson R, Ross J, Byerley W.
No Evidence for IL1RAPL1 Involvement In Selected High-Rishk Austism Pedigrees from the AGRE Data Set. Autism Res. 2011. Allen-Brady K, Cai G, Cannon D, Robison RJ, McMahon WM, Coon H, Buxbaum D.
Genome-Wide Linkage Using the Social Responsiveness Scale in Utah Autism Pedigrees. Mol Autism 2010. Cannon DS, Miller JS, Robison RJ, Villalobos ME, Wahmhoff NK, Allen-Brady K, McMahon WM, Coon H.
A Unified Theory of Autism Revisited: Linkage Evidence Points to Chromosome Using a High-Risk Subset of AGRE Families. Autism Res. 2010. Allen-Brady K, Cannon D, Robison RJ, McMahon WM, Coon H.