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ANATOMY & PHYSIOLOGY

Below are descriptions of the Anatomy and Physiology grants that are currently active. To view a list of past grants in this area, please click on the link below.

Anatomy and Physiology - Past Grants




Bradley Hospital/Brown University, Providence RI
2013-2015

Principal Investigator: Lindsay Oberman, Ph.D., Brown University

Career Development Award

This grant provides support for Dr. Lindsay Oberman in a translational research project that will extend and bridge two independent lines of research, both previously funded by the NLMFF. Specifically, with funding from NLMFF as well as NIH and Harvard Catalyst, Dr. Alvaro Pascual-Leone and Dr. Oberman have developed methods to noninvasively measure experience-dependent cortical plasticity both in healthy controls and patients with idiopathic ASD and Fragile X syndrome. Using noninvasive repetitive transcranial magnetic stimulation (rTMS), Drs. Oberman and Pascual-Leone have shown that patients with idiopathic ASD show an exaggerated LTD-like suppression of cortical excitability following a short train of rTMS while those with Fragile X (without ASD) syndrome show a complete lack of LTD-like suppression in response to the same rTMS protocol.

Under a separate line of research, also previously funded by the NLMFF, Dr. Matthew Anderson developed a mouse model of ASD based on triplication of the UBE3a gene (the genetic mutation that causes idic15 in humans) that reconstitutes correlates of the three core behavioral deficits that define ASD. Furthermore, they have developed a model mechanism where they propose that social deficits in individuals with idic15 may be a consequence of excessive experience-dependent social homeostasis.

Independently, these two lines of research have both contributed to our understanding of the underlying pathophysiology of the behavioral deficits that characterize ASD. A complete understanding, however, requires the direct translation of insights that we gain from basic science to applications that have direct impact for patients with the disorder. With this focus, this project aims to create a multi-disciplinary collaboration between the Anderson and Pascual-Leone lab with Dr. Oberman as the catalyst of this translational bridge. Thus, the aim is to develop novel assays, based on the previous work in the Anderson and Pascual-Leone lab, to evaluate neurological and behavioral phenotypes in human patients with a specific syndromic form of ASD, idic15.



Children's Hospital Boston, MA
2012-2017

Principal Investigators: Mustafa Sahin, Ph.D., Wade Regehr, Ph.D., and Sam Wang, Ph.D.

Systems Biology of Autism: The Case for the Cerebellum

One of the most important unanswered questions in autism research today is the identity of the neural circuit(s) responsible for autistic behavior. Accumulating evidence suggests that cerebellar structural and functional abnormalities may play an ongoing role in, or even act as a developmental cause of the deficits experienced by autistic persons. However, directly proving such roles for the cerebellum requires an animal model, where perturbations can be done in a controlled manner. This project involves a collaborative, multi-dimensional approach by three investigators to interrogate the role of cerebellum in autism using a mouse model. The Sahin laboratory has recreated common autism-like traits in mice by mutating a single gene (Tsc1) in a specific cell type of the cerebellum - Purkinje cells (PCs), the cerebellum's output neuron. Importantly, treatment of these mice with an mTOR inhibitor prevents the development of autistic-like behaviors. Together with the Regehr and Wang laboratories, the overall goal of this project is to determine why mice with Tsc1 selectively eliminated from cerebellar PCs exhibit behaviors consistent with ASDs. Bringing together three investigators with complementary expertise, the experiments in this project present an unprecedented opportunity to understand the neural circuitry of autism.

Children's Hospital Boston



 



 
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