Research

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Members and Sponsors

Current Members

Alan H Beggs, PhD, Lab Director

Professor of Pediatrics, Harvard Medical School
Research Associate, Department of Medicine, Division of Genetics, Children's Hospital 

Lindsay Swanson, MS, CGC Research Coordinator/Genetic Counselor

Lindsay received her Master's Degree in genetic counseling from the University of Minnesota in April, 2012 and joined the Beggs laboratory in July, 2012. She acts as a liaison between the laboratory and research participants/referring clinicians. She uses her genetic counseling skills to identify and recruit study participants, design recruitment materials, gather and analyze clinical data, as well as to respond to inquiries about inheritance patterns, research studies, and general information about the congenital myopathies. Lindsay also reports recent developments and coordinates follow up studies with referring physicians and CLIA-certified laboratories.

If you would like to contact Lindsay regarding her work in the Beggs lab or to ask general questions about our research, please write to: lswanson@enders.tch.harvard.edu. 

Pankaj Agrawal, MD, Research Fellow

Assistant in Newborn Medicine, Boston Children's Hospital and Instructor in Pediatrics, Harvard Medical School

Dr. Agrawal's research consists of linkage analysis on a family with autosomal dominant multiminicore disease and non-specific myopathy. He is also working on the identification of candidate genes involved in multiminicore disease as well as screening the actin gene in patients with nemaline myopathy. 

Vandana Gupta, PhD, Research Fellow

Dr. Gupta's work is focused on understanding the genetic cause and developing therapies for congenital muscle diseases. She is using a combination of classical genetics and next generation technologies to identify genes causing congenital muscle diseases in human patients. She is using the zebrafish model to understand the function of new genes identified by genetic screens and next generation sequencing in skeletal muscle development. She has developed several zebrafish models in known as well as new gene candidates for muscle diseases (DAG1, LAMA2, MTMR12). The conserved genetics and skeletal muscle structure as well as ease of doing high throughput screens in these small animals make them a wonderful model to study neuromuscular diseases. She is currently developing therapies using zebrafish models by high throughput chemical screens to find cures for muscle diseases in the near future.

Email: vgupta@enders.tch.harvard.edu

Behzad Moghadaszadeh, PhD, Research Fellow

Research Fellow in Genetics

Both alpha-actinin 2 and 3 are key components of the muscle sarcomere; they are located at the Z line and bind to actin filaments as well as many other sarcomeric proteins. Alpha-actinin 2 is expressed in slow and fast skeletal muscle, as well as cardiac muscle and brain. The expression of alpha-actinin 3 however, is limited to fast muscle fibers. Recent studies show that alpha-actinin 3 provides an advantage for power and sprint activities.
We hypothesize that despite their high homology, alpha-actinin 2 and 3 might have different functions. To address this question, Behzad is generating knock-in mice that do not express alpha-actinin 2 and express alpha-actinin 3 under the control of alpha-actinin 2 promoter.

 

Hanna Gazda, MD, PhD, Instructor

Instructor in Pediatrics
Associate Scientist in Genetics, Boston Children's Hospital
Instructor in Pediatrics, Harvard Medical School

Phone: 617-919-4587
Fax: 617-730-0253
Email: hanna.gazda@childrens.harvard.edu
Location:
300 Longwood Avenue
Genetics, Enders 526-528
Boston, MA 02115

Hanna Gazda's research focuses on identifying the genetic causes and molecular pathogenesis of Diamond-Blackfan Anemia (DBA), a bone marrow failure characterized by anemia, bone marrow erythroblastopenia and congenital abnormalities. The first DBA gene, ribosomal protein S19, was found to be mutated in ~25% of DBA patients. Gazda and colleagues recently identified four other genes, RPS24, RPL5, RPL11, and RPS7, mutated in ~15% of DBA patients, and confirmed that DBA is a first human disease caused by mutations in ribosomal proteins. They also discovered the first known correlation between mutations in certain genes and particular clinical findings. In particular, mutations in RPL5 are associated with multiple physical abnormalities including cleft lip/cleft palate, thumbs and heart anomalies, while isolated thumb malformations are predominantly present in patients carrying mutations in RPL11. The laboratory’s current goal is to identify other genes involved in DBA, to uncover the pathogenesis of the disease and to generate an animal model for DBA. For more information on participating in this clinical research study, please follow the link below.

Genetic Studies on Diamond-Blackfan Anemia (DBA)

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Key publications:

Gazda HT, Kho AT, Sanoudou D, Zaucha JM, Kohane IS, Sieff CA, Beggs AH. Defective Ribosomal Protein Gene Expression Alters Transcription, Translation, Apoptosis, and Oncogenic Pathways in Diamond-Blackfan Anemia. Stem Cells 2006; 9:2034-2044.

Gazda HT, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, and Sieff CA. Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia. Am. J. Hum. Genet. 2006; 79:1110-1118.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet. 2008;83:769-80. 

Wen-Hann Tan, BMBS

Graduated from University of Nottingham Medical School and completed residencies in pediatrics and medical genetics in Nottingham, Cambridge (UK), and Boston. Currently attempting to analyze whole exome sequencing data to identify novel genetic syndromes. 

Ozge Ceyhan Birsoy, PhD, Research Fellow

 

Mugdha Joshi, MD, Research Fellow

 

Laura L. Smith, Graduate Student

 

Cynthia Hsu, Graduate Student

 

Emily Troiano, MS, Research Technician

 

Nick Marinakis, Research Technician

 

Laura Crowley, Research Technician

 

Michelle Graff, Research Technician

 

Shideh Kazerounian, PhD, Research Fellow

 

Daniel Yuan, BA, Research Technician

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Former Members

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Alison Arch
Columbia University Undergraduate Student 1997

Jessica Bass
Co-op student 2011-2012, Northeastern University

Natasha Darras, B.S.
Research Technician 2005-2008
Now: Jefferson University Medical School

Ryan Darnall, B.S.
Research Technician 2008-2009

Elizabeth Dechene, MS, CGC
Study Coordinator/Genetic Counselor 2005-2012

Laura DeGirolami
Columbia University Undergraduate Student 1999

Marie Discenza
Research Assistant 2009-2011
Now: Boston University Graduate Student 2012

Leana Doherty, B.S.
Research Technician 2008-2009
Now: SUNY Upstate Medical School

Priya Duggal 
Research Technician 1996-1997
Graduate Student, JHU School of Public Health

Elizabeth Engle, M.D.
Post Doctoral Fellow 1992-1997
Studied: Genetics of congenital fibrosis syndromes
Now: Assistant Professor, Harvard Medical School

Michael Ettore
Harvard Medical School Ph.D. Candidate 1997

David Fribourg
Harvard Medical School M.D. Candidate 1994

Nate Goldman
Summer Student 2012, Needham High School
Now: Cornell University

Stacey Gundry
Co-op student 2008-2010, Northeastern University

Olivia Guo
Research Technician 2002-2003
Now: Columbia University Dental School

Tanya Holmes, BA
Now: Pursuing a Masters in Forensic Science at National University in San Diego, CA.

Marek Kozlowski, MSc
Research Technician 2007-2010
Now: Pursuing a PhD in Molecular Biology at Heidelberg University in Germany

Jesse Lugus 
Research Technician 2000-2002
Now: Graduate Student, Washington University, St. Louis

Jessica McIntire
Co-op student 2012, Northeastern University

Charles Midgett
Research Technician 1999-2002
Now: Graduate Student, Dartmouth University

Ana Morales, M.S. 
Research Coordinator/Genetic Counselor 2001-2003

Sophia Nam, B.A.
Research Administration 2007
Now: Graduate student in psychology

Alessandro Nardi
Harvard University Undergraduate Student 1996-1997

Kathryn North, Ph.D.
Post Doctoral Fellow 1994-1995
Studied: Alpha-actinins in skeletal muscle
Now: Associate Professor, Head Neurogenetics, University of Sydney, Sydney, Australia

Chris Pierson, M.D., Ph.D.
Instructor in Pediatrics 2004-2007
Studied: Neuropathology of Centronuclear and Myotubular Myopathies.
Now: Assistant Professor, Department of Pathology, The Ohio State University. Staff Neurolopathologist; Columbus Children's Hospital. Principal Investigator; Columbus Children's Research Institute

Melisa Poulos, B.A.
Research Technician 2003

Benjamin Read, B.S.
Research Technician 2008-2009

Nancy Resteghini, B.S.
Summer Research Intern 2008
Now: University of New England Medical School

Matt Ronan, B.A.
Research Technician 2005-2007
Studied: alpha-actinin 2 in mouse muscle
Now: Georgetown University Medical Student

Emily Roumm, B.S.
Research Technician 2006-2007
Now: Harvard Medical School

Despina Sanoudou Post Doctoral Fellow 2000-2003
Now: Assistant Professor; Foundation for Biomedical Research of the Academy of Athens

Kyle Schoppel, B.S.
Research Technician 2008-2009
Now: University of Vermont Medical School

Rebecca Schweikert, B.A.
Research Technician 2003-2006

Mee Rie Sheen, M.S.
Research Technician 2007-2009
Now: Dartmouth PhD Student

Junko-Shimazu
Co-op student Northeastern University 2010
Now: Graduate student, Genetics and Development, Columbia University

Rachel Soemedi, M.S.
Research Technician 2007-2008
Now: PhD candidate at the lab of Dr. Simon Pearce, Newcastle University, London, England

Matthew Stein, B.A.
Research Technician 2008-2009
Now: Tufts Medical School

Corinne Strickland, M.S.
Genetic Counselor 1999-2001

Esala Sumadasan
Johns Hopkins University Undergraduate Student 1998

Kathryn Swoboda, M.D.
Post Doctoral Fellow 1996-1998
Studied: Genetics of nemaline myopathy
Now: Instructor in Neurology, University of Utah School of Medicine, Salt Lake City, USA

Fumio Takada, M.D.
Post Doctoral Fellow 1997-2001
Studied: Alpha-actinin binding proteins
Now: Associate Professor, Kitasato University, Kitasato, Japan

Ethan Talbot
Summer Student 2011
Now: Medical student, University of Connecticut School of Medicine

Kinga Tomczak, M.D.
Research Fellow 2001-2007
Studied: Myotubularin and related proteins in myotubular myopathy.
Now: Pediatric Residency at Boston Medical Center

Hui Qi Tong, M.D.
Research Technician 1995-2000
Now: Shangai Medical University

Douglas Vander Woude, M.D.
Post Doctoral Fellow 1995-1997
Studied: Alpha-actinins in skeletal muscle
Now: Assistant Professor, Practicing Surgeon, Michigan

Mark Vesely, M.D.
Research Technician 1996-1997
Attended George Washington Medical School
Medical Resident, University of Maryland

Marissa Viola, B.S.
Lab Manager/Research Technician 2010-2012 

Duangrurdee Wattanasirichaigoon, M.D.
Post Doctoral Fellow 1996-1999
Studied: Genetics of congenital myopathy and LQT syndrome
Now: Chief of Genetics, Ramathibodi Hospital, Bangkok, Thailand

Ariana Wermer-Colan
Summer Research Intern 2008, 2009
Now: Cornell Undergraduate Student

Nicole Yang, B.S.
Research Technician 2007-2008
Now: Duke-NUS Medical School Singapore

Mervin Zhao
Summer Research Intern 2008, 2009
Now: Cornell Undergraduate Student

Branden Rider
Research Technician 2009-2013

Roxanne Ghazvinian
Research Technician 2011-2013

Pedro Ciarlini, MD
Neuropathology Research Fellow 2012-2013
 

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Sponsors

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We appreciate the assistance provided by the organizations listed below. Without them, our work would not be possible. Please follow the links to their Web sites if you want to learn more about their work as well as how to provide support.

National Institute of Arthritis and Muscouloskeletal and Skin Diseases (NIAMS) of the NIH

National Institute of Neurological Disorders and Stroke (NINDS) of the NIH 

Muscular Dystrophy Association

Joshua Frase Foundation - Research support on the centronuclear myopathies, including MTM and other congenital myopathies

Lee R. Anderson Family Foundation - Founding supporter of the Multiminicore Myopathy Research Program at Boston Children's Hospital

Centronuclear and Myotubular Myopathy Information Point - Long-standing supporter of centronuclear myopathy research in the Beggs Laboratory

We also receive generous donations from many individual donors and contributors to our research at Boston Children's Hospital. For more information, please go to Ways to Help.

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