Labs

Dr. Almeida’s primary focus is elucidating the molecular mechanisms of frontotemporal dementia (FTD), amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD).

Her main strategy employs patient-derived, induced pluripotent stem cell (iPSC) lines to generate disease-relevant neuronal cells. This allows modeling of patient-derived neurons in the appropriate differentiated context, providing an enriched understanding of how ALS/FTD mutations impact cellular physiology to effect their pathogenic consequences, enabling testing of potential therapeutic interventions aimed at halting the progression of these diseases.

Learn more here: https://www.umassmed.edu/fen-biaogaolab/

Our lab is investigating the pathogenic mechanisms associated with neurodegenerative diseases, namely ALS (amyotrophic lateral sclerosis), also known as Lou Gehrig’s disease, and frontotemporal dementia (FTD). We use a multidisciplinary approach involving protein biochemistry, structural biology, human stem cell technology (for motor neuron and microglia cultures), biophysics and mouse model systems for our investigations. Lab members are welcome to focus on one or multiple disciplines for their research. Our projects are both basic-science and translationally oriented, as our ultimate goal is to translate our basic-research findings into therapies for these devastating diseases.

Learn more here: https://www.boscolab.com/research

Renowned for his groundbreaking basic and clinical research on the inherited and genetic basis of neurodegenerative and neuromuscular diseases, Robert H. Brown Jr., DPhil, MD has a record of significant discoveries in identifying gene defects that elucidate how ALS causes neurons to die. In 1993, a team of researchers led by Dr. Brown discovered the first gene linked to the inherited form of ALS, called SOD1.

Brown's laboratory has focused on the identification of gene defects that elucidate the molecular pathogenesis of selected neuromuscular diseases including amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), muscular dystrophy, adrenoleukodystrophy, hereditary neuropathy and hyperkalemic periodic paralysis. Knowledge of theses disease genes has facilitated the creation of mouse and cell-based models of these disorders. In turn, these resources have allowed study of therapeutic strategies using conventional small molecule approaches and new modalities such as inhibitory RNAi.

Learn more here: https://umassmed.edu/brownlab

The Chan lab explores the ability of using in-vitro systems to model human genetic diseases and phenotypes. Having developed a multiplex pooling method to simultaneously quantify donor cell phenotypes on a large scale, the Chan lab seeks to expand the scope of human genetic disease discovery and treatment using in-vitro modeling. Some ongoing projects of the lab are the determination of whether viruses are causative for Alzheimer’s diseases as well as developing a multiplex in-vitro system to assay for hearing-loss due to cisplatin treatment. These techniques are made possible by the multiplex generation of induced pluripotent stem cells (iPSCs) which form the basis of modeling specific tissue types of interest in-vitro. The Chan lab uses both experimental and computational approaches to enable the high-throughput development and analysis of their multiplex in-vitro systems. Feel free to contact Dr. Chan or any of the lab members if you are interested in collaborating with or joining the lab.

Learn more here: https://www.umassmed.edu/rigelchanlab/lab-members/

The University of Massachusetts School of Medicine (UMMS) Wellstone Muscular Dystrophy Cooperative Research Center uniquely focuses its research and training programs on Facioscapulohumeral Muscular Dystrophy (FSHD). FSHD is one of the most prevalent myopathies, afflicting both children and adults. The mission of the UMMS Wellstone Center is to conduct research to reveal the underlying genetic and epigenetic mechanisms driving the muscle pathology of FSHD, leading to the development of novel therapeutics for this devastating disease.

Learn more here: https://www.umassmed.edu/wellstone/

Our lab uses a combination of molecular, cellular, genetic, and behavioral approaches to further dissect the pathogenic mechanisms of frontotemporal dementia and amyotrophic lateral sclerosis with a focus on mutant CHMP2B, progranulin and C9ORF72. We will identify common underlying pathways as potential targets for therapeutic interventions. To this end, multiple experimental systems will be utilized, including drosophila, mouse models, and patient-specific induced pluripotent stem (iPS) cells. 

Learn more here: https://www.umassmed.edu/fen-biaogaolab/

Lisa Hall, PhD, is a co-investigator with Jeanne Lawrence on numerous research projects pertaining to nuclear structure and epigenetic regulation of the genome. Dr. Hall'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. Hall 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.

Learn more here: https://www.umassmed.edu/lawrencelab/

I am a physician-scientist providing care since 2000 for patients in the UMMS MDA Neuromuscular Clinic and serve as co-director of the multidisciplinary FSH Muscular Dystrophy Clinic. My research group focuses on defining molecular mechanisms that cause selected neuromuscular diseases, including ALS (amyotrophic lateral sclerosis), FSH (facioscapulohumeral) muscular dystrophy, and hyperkalemic periodic paralysis. Our objective is to direct this knowledge toward designing more effective treatments for our patients with these conditions. My laboratory applies expertise in basic muscle biology, cellular and animal modeling, gene regulation, protein biochemistry, and ion channel physiology to understand how genetic changes and environmental influences trigger various pathological responses in these diseases. We collaborate closely with other researchers in the UMMS Wellstone Center for FSHD and the UMMS Neurotherapeutics Institute.

Learn more here: https://www.umassmed.edu/wellstone/

I completed my medical training (MD) and thesis research (Dr. med.) at the University of Mainz in Germany (1995-2001), Neurology residency training at the University of Heidelberg, Germany (2001-2004) and UMass Chan Medical School (2007-2011), as well as a three-year post doc in experimental stroke imaging in Dr. Marc Fisher’s lab at UMMS (2004-2007). After my residency, I completed a fellowship in Cerebrovascular Diseases at the Beth Israel Deaconess Medical Center/Harvard Medical School, Boston (2011-2012) before joining the UMass Chan Medical School as faculty in 2012. At UMMS, I completed my PhD in biomedical sciences in 2017, which laid the foundation for my ongoing research program that aims at defining mechanisms driving white matter damage and its contribution to functional outcome and neurodegenerative disease of the brain.

Here are additional details and a current list of publications: https://profiles.umassmed.edu/display/132247

Clinical research in multiple sclerosis and other immune mediated CNS diseases

My research is devoted to understanding the nervous system immune mediated diseases. Specific areas of interest are the interplay between psychiatric disorder and multiple sclerosis (MS), the clinical trials using new agents in treatment of MS, the biomarkers of MS disease activity and the biomarkers of HIV associated neurocognitive disorders.

The development of exon capture and short-read sequencing technologies allows for screening of cohorts for rare variants at a genome-wide scale in an economically feasible way. Our laboratory is focused on utilizing the exon capture and short-read sequencing approach, in combination with bioinformatics analysis, to identify novel causative genes for ALS. It is our hope that by understanding the genetic contributors to ALS, we will facilitate our understanding the disease, as well as assist in the development of diagnostics and therapies to extend and improve the lives of ALS patients.

Learn more here: https://www.umassmed.edu/landerslab/

Lawrence lab research bridges fundamental questions of developmental epigenetics with translational research into the common problem of chromosome abnormalities, particularly Down syndrome. Having initially developed FISH technology to detect single-genes and nuclear RNAs in cells, her work revealed that genes are organized in nuclear compartments, and that an unprecedented non-coding RNA, XIST, structurally coats the inactive X-chromosome. Using cytological, molecular and genomic approaches, the lab continues fundamental studies of lncRNA function and chromosome regulation. In addition, a major focus is to harness the epigenetic power of XIST as an experimental approach, in human stem cells and mice, to understand how Trisomy 21 impacts neural development, as well as to investigate the prospects for development of XIST-based “chromosome therapies”. Down syndrome is now understood to be a form of early-onset Alzheimer's disease, hence ongoing studies have direct relevance for Alzheimer's disease and aging more broadly.

Learn more here: https://www.umassmed.edu/lawrencelab/

Dr. Susanne Muehlschlegel is the principal investigator and director of research in neurocritical care. Her overarching goal is to improve the clinical care and outcomes of critically ill patients with neurological emergencies and their families through evidence-based and passionate clinical care, and rigorous and innovative clinical investigation. She also strives to inspire and develop the next generation of students, residents, nurses and multidisciplinary academicians.

Driven by her observations in patients and their families, she has built a clinical research program in neurocritical care at UMMS, focusing on shared decision making and neuroprognostication. She has held funding from NIH, foundations, UMMS and philanthropy for her own investigator-initiated research. She has held the inaugural PACE-Award (Prize for Academic Collaboration and Excellence) at UMMS as co-PI. Her research has won the 2020 “Top Paper of the Year in Neurotrauma and Critical Care” by the Congress of Neurological Surgeons and has been featured in the UMMS Women in Science video series.

To date, her interdisciplinary, mixed-methods work in shared decision making involving stakeholders (families, nurses, physicians) has culminated in several novel shared decision making tools (decision aids) for goals-of-care decisions in neurocritically ill patients. Complementary to her research program in shared decision making and neuroprognostication, she leads the observational “Outcome Prognostication in moderate-severe TBI” (OPTIMISM)-study, with data collection now ongoing for more than 10 years. She and her group members participate in NIH- and industry sponsored multi-center trials in neurocritically ill patients as site-PI (past: IDEF-trial; current: BOOST3, INTREPID, CHARM and others).

Within the Office of Faculty Affairs, Muehlschlegel is the director of the UMMS Junior Faculty Development Program (JFDP), which is considered a national model for junior faculty development.

Learn more here: https://www.umassmed.edu/nccresearch

Our laboratory focuses on developing gene therapies for fatal neurological diseases through design of AAV vectors carrying therapeutic genes and engineering new AAV capsids with enhanced in vivo gene delivery to central nervous system and other target tissues.

Learn more here: https://senaesteveslab.umassmed.edu/

Dr. Kara Smith is a movement disorders specialist with clinical research interest in Parkinson’s disease. Her research is focused on better understanding how Parkinson’s disease impacts daily life for patients, with research projects focused on cognitive impairment, speech and communication, and other non-motor symptoms. She believes clinical research should be driven and centered by the patient experience, with ongoing collaboration between the patient community and researchers. Her work is aimed at developing biomarkers and therapies to fuel innovations in Parkinson’s disease treatment. She is also involved in clinical trials of novel therapeutics and monitoring modalities for Parkinson’s disease and other movement disorders.