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Project

4e-2 Preclinical Models of Genetic Neurodevelopmental Disorders: Advancing Therapeutics

Center:

CA-UC Davis at the MIND Institute, UCEDD/LEND

Fiscal Year:

2022

Contact Information:

Jill Silverman
[email protected]
916-734-8531

Project Description:

Preclinical Models of Genetic Neurodevelopmental Disorders Dr. Silverman joined the MIND and CEDD faculty in 2015 to study rare genetic disorders characterized by intellectual disabilities and pediatric epilepsies. Her laboratory has a large sub-focus on genetic disorders of the chromosomal region 15q11.2-q13, a maternally derived duplication of the 15q11.2-q13 region. It is the second most common genetic variation associated with ASD and a common cause of ID (~1:250-500 of ASD cases; ~1:584 cases of ID). She is leading a project focused on identifying the phenotypes associated with isoform specific Ube3a overexpression in neurons. This is the only NIH-funded work focused on splice variants of the Ube3a gene in vivo. She works in collaboration with multiple parent groups and disability organizations to develop genetic models that will translate into clinical practice more rapidly.

Keyword(s):

Core Function(s):

Performing Research or Evaluation

Area of Emphasis

Health-Related Activities, Quality of Life, Other - Leadership

Target Audience:

Students/Trainees (long or intermediate trainees), Community Trainees / Short term trainees, Professionals and Para-Professionals, Family Members/Caregivers, Adults with Disabilities, Children/Adolescents with Disabilities/SHCN, Legislators/Policy Makers, General Public

Unserved or Under-served Populations:

Other

Primary Target Audience Geographic Descriptor:

State, National, International

Funding Source:

Federal

COVID-19 Related Data:

N/A

1100 Wayne Avenue, Suite 1000 Silver Spring, MD 20910

Mailing address:
PO Box 8787
Silver Spring, MD 20907-8787