Neuropsychiatric Genetics

Welcome

Welcome to the Neuroscience Research Clinic, focusing on the genetics, causes, and treatment of many common psychiatric disorders.

Childhood-onset neuropsychiatric disorders like autism, Tourette Syndrome (TS), obsessive compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) are increasingly known to cause major impairment and distress.  Autism spectrum disorders (ASD) in particular are emerging as a national emergency that requires an integrated public health and scientific response [1]. ASD prevalence rates in Utah have increased 20-fold over the last two decades.   The alarming increase in prevalence, the lack of biological markers, and the heterogeneity of features across affected individuals pose many unanswered questions.  To address these questions, rigorous studies are needed to better understand the etiology, risk factors, and effectiveness of various treatment options in isolation or in combination.  The same holds true for the even less well-studied illnesses, TS, OCD and ADHD. Tourette Syndrome (TS) is a neuropsychiatric disorder characterized by multiple motor and phonic tics that wax and wane over a lifetime. Tics, ADHD, and OCD, comorbid in the majority of TS patients [2], comprise what is commonly known as the TS “clinical triad”.  Up to 4% of school children may have TS, and symptoms are a significant source of disability in many [3]. Males are more likely to have TS with a ratio as high as 4 to 1 [4]. The heritability of TS has been well established; concordance rates among monozygotic twins is 70%, more than seven times that seen in dizygotic twins [5, 6]. Early segregation analysis suggested the existence of a single major gene and an autosomal dominant mode of inheritance. However, reports of bilineal transmission and lack of consensus from the many linkage studies undertaken to identify major genes suggests that the mode of inheritance is likely more complex. The lack of consensus in results from genome-wide linkage studies for TS (and ADHD and OCD) is characteristic for psychiatric disorders and points to a more complex disease model than a single major gene. There have been recent encouraging linkage findings for TS on chromosome 2p, but there is a need to use new genomics approaches both to fine-map chromosome 2p and to identify additional TS susceptibility loci.

There is now joint commitment at Utah to develop a comprehensive translational research center for TS, OCD, ADHD, autism and other childhood-onset neuropsychiatric disorders in the intermountain region. To improve human health, scientific discoveries must be translated into practical applications. The University of Utah is taking a proactive, team science approach to preparing clinician scientists for the future. Team science is about developing new ideas, forging new partnerships, and collaboratively using new tools to address the complex problems facing biomedical researchers today. One example of this is the Brain Institute, which was established in 2005 to provide infrastructure for team science. Specifically, the Brain Institute will: 1) nurture a cadre of well-trained, multi- and inter-disciplinary investigators and research teams; 2) create an incubator for innovative research tools and information technologies; and 3) bring together multi- and inter-disciplinary clinical and translational researchers to apply new knowledge and techniques to clinical practice at the leading edge of patient care.

 

LITERATURE CITED

 

1.            Committee, T.I.A.C. The Interagency Autism Coordinating Committee Strategic Plan for Autism Spectrum Disorder Research.  2009; Available from: http://iacc.hhs.gov/reports/2009/iacc-strategic-plan-for-autism-spectrum-disorder-research-jan26.shtml.

2.            Khalifa, N. and A.L. von Knorring, Prevalence of tic disorders and Tourette syndrome in a Swedish school population. Dev Med Child Neurol, 2003. 45(5): p. 315-9.

3.            Kurlan, R., et al., Prevalence of tics in schoolchildren and association with placement in special education. Neurology, 2001. 57(8): p. 1383-8.

4.            Freeman, R.D., et al., An international perspective on Tourette syndrome: selected findings from 3,500 individuals in 22 countries. Dev Med Child Neurol, 2000. 42(7): p. 436-47.

5.            Hyde, T.M., et al., Relationship of birth weight to the phenotypic expression of Gilles de la Tourette's syndrome in monozygotic twins. Neurology, 1992. 42(3 Pt 1): p. 652-8.

6.            Price, R.A., et al., A twin study of Tourette syndrome. Arch Gen Psychiatry, 1985. 42(8): p. 815-20.