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Photo of Stormy J. Chamberlain, Ph.D.

Stormy J. Chamberlain, Ph.D.

Assistant Professor, Genetics and Genome Sciences
Associate Director, Graduate Program in Genetics and Developmental Biology
Academic Office Location:
Genetics and Genome Sciences
UConn Health
400 Farmington Avenue
Farmington, CT 06030-6403
Phone: 860-679-4433
Fax: 860-679-8345
Email: chamberlain@uchc.edu
Website(s):

Genetics & Developmental Biology Graduate Program

Education
DegreeInstitutionMajor
B.A.Princeton UniversityMolecular Biology
Ph.D.University of FloridaMolecular Genetics

Post-Graduate Training
TrainingInstitutionSpecialty
PostdoctoralUniversity of North Carolina Postdoctoral Fellow in Genetics, Lab of Terry Magnuson
PostdoctoralUniversity of Connecticut Health CenterPostdoctoral Fellow in Genetics & Developmental Biology, Lab of Marc Lalande

Awards
Name of Award/HonorAwarding Organization
Joseph Moretti Jr. "BELIEVE" Award for Excellence in the Advancement of Angelman ResearchFighting Angels Foundation
Women of Innovation honoree in Research and LeadershipConnecticut Technology Council
Osborn Award for Excellence in Biomedical Sciences Graduate Teaching Graduate Student Organization
Raymond and Beverly Sackler Endowed Assistant ProfessorshipRaymond and Beverly Sackler Foundation
Name & DescriptionCategoryRoleTypeScopeStart YearEnd Year
hESC/iPSC gene targeting core advisory committeeAdvisory CommitteememberUConn HealthLocal2015
NICHD study section for Loan Repayment Program (LRP)Study SectionAd Hoc memberExternalNational2015
Advisory Board Member of the Professional Science Program in Health Care GeneticsAdvisory CommitteememberUConn-StorrsLocal2015
Genetics and Genome Sciences Faculty Search CommitteeOthermemberUConn HealthLocal20152015
UConn Allied Health Sciences Faculty Search CommitteeOthermemberUConn-StorrsLocal20152015
StemConn Organizing CommitteeWorkshop/ConferencememberExternalRegional2015
Scientific Advisory Board, Angelman Syndrome FoundationAdvisory CommitteeBoard memberExternalNational2014
NICHD IDDRC Review panelStudy SectionmemberExternalNational20142014
NICHD review panel for P01Study SectionmemberExternalNational20142014
Graduate School Curriculum CommitteeEducation CommitteememberUConn HealthUniversity2014
Dup15q Alliance Scientific Advisory BoardAdvisory CommitteeMemberExternalNational2013
International Journal of Medical GeneticsEditorial BoardExternalInternational2013
NYSTEM Neuroscience Panel 2Study SectionExternalRegional2013
National Institute on Drug Abuse (NIDA)'s Cutting-Edge Basic Research Awards (CEBRA) PanelStudy SectionExternalNational20132013
Molecular Core Advisory CommitteeAdvisory CommitteememberUConn HealthUniversity2013
Graduate Women in Medicine and Science (GWIMS) Executive CommitteeProfessional/Scientific OrganizationMemberUConn HealthLocal2011
UConn-Wesleyan Stem Cell Core Advisory CommitteeAdvisory CommitteeUConn HealthLocal2011
Graduate Admissions CommitteeEducation CommitteeArea of Concentration RepresentativeUConn HealthLocal20112013
American Society for Human GeneticsProfessional/Scientific OrganizationMemberExternalNational2009

My laboratory uses induced pluripotent stem cells (iPSC) to model and study human imprinting disorders. We work closely with the Lalande lab and currently have two major on-going projects.


Generation of iPSCs from Angelman syndrome, Prader-willi syndrome, and 15q duplication syndrome patients
Three neurodevelopmental disorders are caused by genetic aberrations on chromosome 15q11-q13: Angelman syndrome, Prader-Willi syndrome, and 15q duplication syndrome. Children with Angelman syndrome (AS) suffer from severe mental retardation, seizures, lack of speech, and ataxia. This disorder results from the loss of function of the E3 ubiquitin ligase, UBE3A. Children with Prader-Willi syndrome (PWS) are first identified by hypotonia and feeding diffulties that are usually present at birth. Later, PWS children develop short stature, hypogonadism, mild mental retardation, hyperphagia that leads to morbid obesity, and behavioral difficulties that are similar to obsessive-compulsive disorder. Children with 15q duplication syndrome have developmental delay, seizures, speech and language problems, motor skill delay, and autism. This disorder is the most common cytogenetic anomaly associated with autism. These three disorders are inextricably related to one another because the genes responsible for them are subject to regulation by genomic imprinting and share a common imprinting control region. We are making iPSCs from various AS, PWS, and 15q duplication patients in order to study the cellular phenotypes associated with these disorders as well as regulation of imprinted gene expression.


Using iPSCs to study the neuron-specific regulation of the UBE3A antisense transcript
The genomic imprinting of UBE3A is tissue-specific, occurring only in the brain. This is hypothesized to occur due to the brain-specific expression of a long non-coding antisense transcript referred to as UBE3A-ATS or LNCAT, which results in the silencing of UBE3A by an as-yet-unknown mechanism. Since this antisense transcript shows different tissue-specificities in humans and mouse, we are using human iPSCs from AS and normal individuals to understand how it is regulated during in vitro neural development.

Accepting students for Lab Rotations: Fall '16, Spring '17


1. Using iPSCs to study the neuron-specific regulation of the UBE3A antisense transcript.


2. Using AS iPSCs to determine the chromatin modifications associated with repression of paternal UBE3A.


3. Comparing gene expression between iPSCs and iPSC-derived neurons from AS, PWS, and 15q duplication patients.

Journal Articles

Book Chapters

  • Roles of Long Noncoding RNAs in Genomic Imprinting
    Kristen Martins-Taylor and Stormy Chamberlain Molecular Biology of Long Non-Coding RNAs 95-114

Reviews

Title or AbstractTypeSponsor/EventDate/YearLocation
Using induced pluripotent stem cells to model Angelman syndromeLectureWentworth Institute of Technology2015Boston, MA
Using induced pluripotent stem cells to study Angelman syndrome.LectureAngelman Syndrome Foundation2015
Induced pluripotent stem cell models of Dup15qTalkDup15q Alliance2015Orlando, FL
Induced pluripotent stem cell models to study Dup15qTalkDup15q Alliance2015Orlando, FL
Induced pluripotent stem cell (iPSC) models of Angelman syndromePlenary LectureFighting Angels Foundation2015Bridgeport, CT
Genetics 101LectureAngelman Syndrome Foundation2015Schaumberg, IL
You can do it: starting an academic career and familyTalkGraduate Women in Science and Medicine2015Farmington, CT
Induced pluripotent stem cell models to study Angelman syndromeTalkORSA (Organizzazione di sindrome d'Angelman)2015Trevi, Italy
Using induced pluripotent stem cells to study 15q imprinting disordersPlenary LectureSocieta Italia di Genetica Umana (SIGU)2015Remini, Italy
Induced pluripotent stem cell models of Angelman and Dup15q syndromesTalkSimons Foundation for the Social Brain2014Cambridge, MA
Using induced pluripotent stem cells to model Angelman syndromeTalkAngelman Syndrome International Meeting2014Paris, France
Making sense of an antisense transcriptTalkIllumina Connecticut User Group meeting2014New Haven, CT
Induced pluripotent stem cell models of Angelman and Dup15q syndromesTalkAngelman Syndrome Foundation and Dup15q Alliance Joint Scientific Symposium2014Cambridge, MA
Induced pluripotent stem cell models of Autism Spectrum DisordersTalkPediatric Translational Research Seminar Series2014Farmington, CT
Induced pluripotent stem cell (iPSC) models of Angelman SyndromeTalkCanadian Angelman Syndrome Society Biannual Meeting2014Ottawa, Ontario, Canada
Induced pluripotent stem cells and disease modelingLectureAlbertus Magnus College2014North Haven, CT
iPSCs to study Angelman Syndrome and 15q Duplication associated autismTalkJohn D. Wiley Seminar Series, Waisman Center, U of Wisconsin-Madison2013Madison, Wisconsin
Human induced pluripotent stem cell models of chromosome 15q imprinting disordersTalkUniversity of Florida Genetics Institute Seminar Series2013Gainesville, FL
Induced Pluripotent Stem Cell Models to Study Dup15qTalkDup15q Family Meeting2013Bloomington, MN
Induced Pluripotent Stem Cell Models of Dup15q syndromeTalkDup15q Scientific Meeting2013Sacramento, CA
Neuronal Synaptic and Circuit Dysfunction in the Autism Spectrum DisordersTalkARC Symposium2013Storrs, CT
iPSC models of 15q duplication syndromeTalkUCHC Human Genetics Seminar Series2013Farmington, CT
Lessons Learned from Induced pluripotent Stem Cell Models of Angelman SyndromeTalkORSA Angelman Syndrome International Scientific Symposium2013Rome, Italy
Lessons Learned from Human Induced Pluripotent Stem Cell Models of Angelman SyndromeTalkORSA Angelman Syndrome International Family Meeting2013Trevi, Italy
Induced Pluripotent Stem Cell Models of Angelman and Dup15q SyndromesTalkUCHC Dept of Neuroscience Seminar Series2013Farmington, CT
Human iPSCs to model chromosome 15q11-q13 imprinting disordersTalkTri-Institutional Stem Cell retreat2012Wesleyan University, Middletown, CT
iPSC models of Angelman syndrome and autismTalkHuman Genetics Seminar Series2012Farmington, CT
iPSC models of Angelman syndrome and autismTalkUMass Amherst Dept. of Veterinary and Animal Sciences2012Amherst, MA
iPSC models of chromosome 15q imprinting disordersTalkUniversity of North Carolina Neuroscience Center2012Chapel Hill, NC
Induced pluripotent stem cell models of Angelman syndromeTalkAngelman Syndrome Foundation/Donor's dinner2012Rockville, MD
iPSC models of chromosome 15q imprinting disordersTalkCenter for Vascular Biology2012Farmington, CT
Using Induced Pluripotent Stem Cells (iPSCs) to Study 15q Imprinting DisordersTalkConnecticut Children's Medical Center 2012Farmington, CT
Using an induced pluripotent stem cell (iPSC) model of Angelman syndrome to study the mechanism of genomic imprinting of UBE3A.TalkAngelman Syndrome Foundation2012Rockville, MD
Human induced pluripotent stem cell (iPSC) models of chromosome 15q imprinting disorders TalkGatlinburg Conference2012Annapolis, MD
Human induced pluripotent stem cell (iPSC) models of Dup15qTalkDup15q Alliance Scientific Symposium2012Boston, MA
An induced pluripotent stem cell (iPSC) model of Angelman syndrome to study genomic imprinting at human chromosome 15q11-q13TalkNIH/NICHHD2011Bethesda, MD
Human iPS cell models of chromosome 15q11-q13 genomic imprinting disordersTalkWesleyan Huges Summer Lecture Series2011Wesleyan University, Middletown, CT
Using an iPSC model of Angelman syndrome to study genomic imprinting of UBE3ATalkAngelman syndrome foundation2011Salt Lake City, UT
Induced pluripotent stem cell models of Angelman syndrome and autismTalkSociety for Neuroscience2011Washington, DC
iPSC models of 15q imprinting disordersTalkCenter for Molecular Medicine2011Farmington, CT
Induced pluripotent stem cell models of Angelman syndrome and autismTalkChild Neurological Society2011Savannah, GA
iPSC models of 15q imprinting disordersTalkRutgers University Stem Cell Center2011New Brunswick, NJ
Stem cells to model human diseasesLectureTrinity College2011Hartford, CT
iPSC models of chromsome 15q imprinting disordersTalkUCONN Pathobiology2011Storrs, CT
Generation and characterization of live Angelman syndrome neuronsTalkAmerican Society for Human Genetics2010Washington, DC