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Molecular and Genetic Epidemiology of Autism
24 August 2007 - 30 April 2012
NATIONAL INSTITUTE OF MENTAL HEALTH
Total Funding: $ 5,860,465
DESCRIPTION: Autism is a neurodevelopmental disorder characterized by impairments in reciprocal social interaction and communication and the presence of restricted and repetitive patterns of interest or behavior. With the improved surveillance and a broadening of the diagnostic criteria, the most recent prevalence study suggests that autism affects as many as 1 in 300 children in the US. Treatments are few and most have little impact on the very significant morbidity. Little is known about the etiology of autism, but it does have a strong genetic component. Despite this significant genetic effect studies over the past decade have clearly shown that the underlying genetics is complex with the likelihood that several genes acting independently as well as interactively significantly raise the risk of autism. With this realization the field of autism genetics is at a critical juncture. To move forward we must embrace new and creative paradigms to successfully dissect the genetic etiology of this disease. During the current funding period we have emphasized both innovative and established genomic approaches to begin teasing apart the complex weave of autism genetics. In our renewal we will expand and build on previous results embracing the paradigm that the wedding of new genomic technology with novel statistical methodology will bring about success. Specifically we propose to 1) Broaden our ascertainment scheme to include the full range of the autism spectrum disorder phenotype, 2) Identify the chromosome 19 autism gene, 3) Investigate a newly defined linkage to chromosome 12 in large extended multigenerational autism families, 4) Extend our studies of the GABA receptor subunits genes, 5) Identify clinically homogeneous subsets of patients and families and use the refined dataset to fine map ASD chromosomal regions and in candidate gene analyses, 6) Test for evidence of new gene/gene interactions to fully explain the spectrum of autism risk. These efforts will be integrated to address an important problem in childhood disease, the genetics of autism spectrum disorders.
22 Resulting Publications
Athena Hadjixenofontos; Michael A Schmidt; Patrice L Whitehead; Ioanna Konidari; Dale J Hedges; Harry H Wright; Ruth K Abramson; Ramkumar Menon; Scott M Williams; Michael L Cuccaro; et al.Annals of human genetics 2013;77(1):9-21.
Holly N Cukier; Joycelyn M Lee; Deqiong Ma; Juan I Young; Vera Mayo; Brittany L Butler; Sandhya S Ramsook; Joseph A Rantus; Alexander J Abrams; Patrice L Whitehead; et al.Autism research : official journal of the International Society for Autism Research 2012;5(6):385-97.
Richard Anney; Lambertus Klei; Dalila Pinto; Joana Almeida; Elena Bacchelli; Gillian Baird; Nadia Bolshakova; Sven Bölte; Patrick F Bolton; Thomas Bourgeron; et al.Human molecular genetics 2012;21(21):4781-92.
Michael L Cuccaro; Roberto F Tuchman; Kara L Hamilton; Harry H Wright; Ruth K Abramson; Jonathan L Haines; John R Gilbert; Margaret Pericak-VanceJournal of autism and developmental disorders 2012;42(8):1630-41.
Anthony J Griswold; Deqiong Ma; Holly N Cukier; Laura D Nations; Mike A Schmidt; Ren-Hua Chung; James M Jaworski; Daria Salyakina; Ioanna Konidari; Patrice L Whitehead; et al.Human molecular genetics 2012;21(15):3513-23.
Brooke A DeRosa; Jessica M Van Baaren; Gaurav K Dubey; Joycelyn M Lee; Michael L Cuccaro; Jeffery M Vance; Margaret A Pericak-Vance; Derek M DykxhoornNeuroscience letters 2012;516(1):9-14.
Jillian P Casey; Tiago Magalhaes; Judith M Conroy; Regina Regan; Naisha Shah; Richard Anney; Denis C Shields; Brett S Abrahams; Joana Almeida; Elena Bacchelli; et al.Human genetics 2012;131(4):565-79.
Anthony J Griswold; Deqiong Ma; Stephanie J Sacharow; Joycelyn L Robinson; James M Jaworski; Harry H Wright; Ruth K Abramson; Helle Lybaek; Nina Øyen; Michael L Cuccaro; et al.Autism research : official journal of the International Society for Autism Research 2011;4(3):221-7.
Holly N Cukier; Daria Salyakina; Sarah F Blankstein; Joycelyn L Robinson; Stephanie Sacharow; Deqiong Ma; Harry H Wright; Ruth K Abramson; Ramkumar Menon; Scott M Williams; et al.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(4):493-501.
Brian L Yaspan; William S Bush; Eric S Torstenson; Deqiong Ma; Margaret A Pericak-Vance; Marylyn D Ritchie; James S Sutcliffe; Jonathan L HainesHuman genetics 2011;129(5):563-71.
Daria Salyakina; Holly N Cukier; Joycelyn M Lee; Stephanie Sacharow; Laura D Nations; Deqiong Ma; James M Jaworski; Ioanna Konidari; Patrice L Whitehead; Harry H Wright; et al.PloS one 2011;6(10):e26049.
D Salyakina; D Q Ma; J M Jaworski; I Konidari; P L Whitehead; R Henson; D Martinez; J L Robinson; S Sacharow; H H Wright; et al.Autism research : official journal of the International Society for Autism Research 2010;3(6):303-10.
Richard Anney; Lambertus Klei; Dalila Pinto; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S Abrahams; Nuala Sykes; Alistair T Pagnamenta; et al.Human molecular genetics 2010;19(20):4072-82.
Dalila Pinto; Alistair T Pagnamenta; Lambertus Klei; Richard Anney; Daniele Merico; Regina Regan; Judith Conroy; Tiago R Magalhaes; Catarina Correia; Brett S Abrahams; et al.Nature 2010;466(7304):368-72.
Holly N Cukier; Raquel Rabionet; Ioanna Konidari; Melissa Y Rayner-Evans; Mary L Baltos; Harry H Wright; Ruth K Abramson; Eden R Martin; Michael L Cuccaro; Margaret A Pericak-Vance; et al.Neurogenetics 2010;11(3):291-303.
D Q Ma; R Rabionet; I Konidari; J Jaworski; H N Cukier; H H Wright; R K Abramson; J R Gilbert; M L Cuccaro; M A Pericak-Vance; et al.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(2):477-83.
N C Schnetz-Boutaud; B M Anderson; K D Brown; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L HainesGenes, brain, and behavior 2009;8(8):753-7.
B M Anderson; N C Schnetz-Boutaud; J Bartlett; A M Wotawa; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L HainesNeurogenetics 2009;10(3):209-16.
Kai Wang; Haitao Zhang; Deqiong Ma; Maja Bucan; Joseph T Glessner; Brett S Abrahams; Daria Salyakina; Marcin Imielinski; Jonathan P Bradfield; Patrick M A Sleiman; et al.Nature 2009;459(7246):528-33.
Deqiong Ma; Daria Salyakina; James M Jaworski; Ioanna Konidari; Patrice L Whitehead; Ashley N Andersen; Joshua D Hoffman; Susan H Slifer; Dale J Hedges; Holly N Cukier; et al.Annals of human genetics 2009;73(Pt 3):263-73.
Holly N Cukier; Margaret A Pericak-Vance; John R Gilbert; Dale J HedgesAnalytical biochemistry 2009;386(2):288-90.
B M Anderson; N Schnetz-Boutaud; J Bartlett; H H Wright; R K Abramson; M L Cuccaro; J R Gilbert; M A Pericak-Vance; J L HainesAutism research : official journal of the International Society for Autism Research 2008;1(6):364-9.
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PERICAK-VANCE, MARGARET A
1 July 1990 - 30 June 1991
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
Total Funding: $ 27,853
ROSES, ALLEN D
1 July 1983 - 31 March 1992
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 1,923,787
Rogers, Jack T
30 September 2008 - 31 August 2010
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Total Funding: $ 269,917
Ellen M Wijsman; E Warwick Daw; Change-En Yu; Haydeh Payami; Ellen J Steinbart; David Nochlin; Erin M Conlon; Thomas D Bird; Gerard D SchellenbergAmerican journal of human genetics 2004;75(3):398-409.
D Q Ma; M L Cuccaro; J M Jaworski; C S Haynes; D A Stephan; J Parod; R K Abramson; H H Wright; J R Gilbert; J L Haines; et al.Molecular psychiatry 2007;12(4):376-84.
Elin S Blom; Peter Holmans; Sampath Arepalli; Omanma Adighibe; Marian L Hamshere; Margaret Gatz; Nancy L Pedersen; A L Mina Bergem; Michael J Owen; Paul Hollingworth; et al.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):778-83.
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