Project Detail
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The genetic basis of mid-hindbrain malformations  

Researchers in this study propose to find genetic causes of several different types of brainstem and cerebellar malformations. Human developmental disorders that involve the brainstem and cerebellum - brain structures derived from the embryonic midbrain and hindbrain - affect a minimum of 2.4 per 1000 resident births based on data from the Centers for Disease Control and Prevention (CDC). Importantly, this large class of disorders co-occurs with more common developmental disorders such as autism, mental retardation, and some forms of infantile epilepsy, and also shares some of the same causes. In this study, researchers will focus on delineating the critical phenotype spectra resulting from malformations in the brainstem and cerebellum and defining the underlying biological networks that are disrupted. Using gene microarrays, the researchers will examine a large cohort of human subjects to find specific genetic mutations that may be involved in mid-hindbrain malformations. The causative genes will be identified using traditional or new high-throughput DNA sequencing methods. The researchers will also try to determine the different biological function of identified genes and protein networks. These studies will contribute immediately to more accurate diagnosis and counseling, and over time may lead to development of specific treatments for a subset of these disorders. Studies of mid-hindbrain development have broad significance for human developmental disorders generally, providing compelling evidence for a connection between cerebellar development and other classes of developmental disorders such as autism, mental retardation, and epilepsy. Project Status


Funder National Institutes of Health
Fiscal Year Funding $773,002.00
Current Award Period 2010-2015
Project Number 2R01NS050375-06
Principal Investigator Dobyns, William
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Subgroups/Biosignatures
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.
Federal or Private? Federal
Institution Seattle Children's Hospital
State/Country Washington
Web Link 1 The genetic basis of mid-hindbrain malformations (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects N/A