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Research Faculty

  Lisa L. Hall, PhD - Associate Professor

Lisa Hall is a co-investigator with Dr. Jeanne Lawrence on numerous research projects pertaining to nuclear structure and epigenetic regulation of the genome. Lisa’s main research interest is studying how long non-coding RNAs interact with chromatin, the functional importance of the repeat genome in gene regulation and nuclear structure, as well as our ongoing project silencing the extra chromosome 21 in Down syndrome patient cells using targeted integration of an XIST transgene. Lisa was also the Assistant Director for the human medical genetics course here at UMMS from 2002-2010, and she continues to teach and help administer the course.

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  Bosco, Daryl - PhD  - Associate Professor

Elucidating the factors involved in sporadic ALS and investigating protein misfunction associated with neurodegenerative disease. 

UMASS Profile        Bosco Lab

 
 

Dominov, Janice - PhD - Assistant Professor of Neurology

Investigates neuromuscular disease with an emphasis on muscular dystrophies, cell death mechanisms, inflammatory pathway regulation and therapeutics for muscular dystrophies.

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 Esteves Esteves, Miguel - PhD - Associate Professor of Neurology

Dr. Esteves is a neuroscientist with interested in gene therapy to help treat neurodegenerative diseases.

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Hayward, Lawrence - MD, PhD  - Professor of Neurology and Physiology

Motor Neuron Disease Mechanisms; Hyperkalemic Periodic Paralysis: a Muscle Ion Channel Disorder.

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Henninger, Nils - MD - Assistant Professor of Neurology

Dr. Henninger is a Vascular Neurologist with a strong research interest in the neurobiology of axonal injury associated with traumatic brain injury and ischemic stroke and its contribution to functional outcome.

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King D, Oliver - PhD - Assistant Professor of Neurology

Computational studies of neuromuscular disorders.

Dr. King is a computational biologist, with research interests in algorithm development and the analysis of high-throughput datasets.  As part of a Wellstone Center focusing on facioscapulohumeral muscular dystrophy (FSHD) he studies transcriptional and epigenetic changes associated with disease, and genetic modifiers of disease severity. He has also worked on automated
behavioral analysis of mouse models of neurodegenerative diseases, and on proteins with "prion-like" domains, several of which have been
implicated in ALS and multi-system proteinopathy.

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 Landers Landers, John - PhD - Professor

Genetics of Familial and Sporadic ALS

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  Emerson, Charles - PhD - Professor    

The Emerson Lab investigates skeletal muscle development and disease. Research has focused on defining transcriptional networks and signaling pathways that control the specification and differentiation of skeletal muscle progenitors in the developing embryo. Current studies utilize iPSC and xenograft technologies to  model the molecular pathology of  facioscapulohumeral  (FSHD) and LGMD2i  muscular dystrophies to develop gene editing, RNA and small molecule  therapeutics to treat these diseases.

UMASS Profile     Emerson Lab

  Jiang, Jun - MD, PhD - Research Assistant Professor

My research is focused on translating the natural mechanisms of X chromosome inactivation into chromosome therapy for Down syndrome. Using genome editing technology, we have successfully inserted a large XIST transgene into Chromosome 21 in Down syndrome iPS cells, which results in chromosome-wide transcriptional silencing of the extra Chromosome 21 (Jiang et al 2013, Nature). My current research project is to develop trisomy corrected mouse models of Down syndrome and test phenotypic correction in vivo.

UMASS Profiles

 

Almeida, Sandra - PhD - Research Assistant Professor

My primary research focus is on understanding the molecular mechanisms of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Alzheimer disease (AD). Our strategy involves the use of patient derived cellular models. To date we have generated induced pluripotent stem cell (iPSC) lines from FTD and ALS/FTD patients carrying mutations in progranulin, C9ORF72, TDP-43 and MAPT, as well as lines from healthy controls. I have differentiated these iPSCs into post-mitotic cortical and motor neurons and applied a variety of approaches to uncover underlying molecular and cellular defects. This approach allows the interrogation of patient-derived neurons in the appropriate, differentiated context, leading to a better understanding of how ALS/FTD mutations impact cellular physiology, resulting in their pathogenic consequences. We are also using a gene editing approach to create CHMP2B mutant iPSCs that can be differentiated into a cellular model for the study of AD cellular pathogenesis. I am particularly interested in exploring and testing potential therapeutic interventions to halt or slow the progression of these and related diseases.

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