Beggs Laboratory | Our Team

Our success is a direct result of the exceptional people that make up our team!

Current Members

Alan H Beggs, PhD

Director, The Manton Center for Orphan Disease Research
Sir Edwin and Lady Manton Professor of Pediatrics

 

 

 

 

Aslı Aykanat, MD

Research Fellow

Aslı Aykanat is a research fellow in the Beggs laboratory at Boston Children's Hospital. Currently she is trying to model TNNT1 and ACTA1a related nemaline myopathies in zebrafish. Her aim is to use these models to understand the pathogenesis of different mutations and eventually use them in small molecule screens in order to develop new therapeutic approaches. She also takes part in natural language processing studies that aim to encode clinical presentations of patients in HPO terms.

 

Pamela Barraza-Flores, PhD

Research Fellow

Pamela recently graduated with her Ph.D. from the University of Nevada, Reno in Cellular and Molecular Pharmacology and Physiology. She specialized in congenital muscular dystrophies related to extracellular matrix proteins and potential pharmaceutical interventions. She is starting her first year as a post-doctoral researcher working on the SELENON protein and MAST2 projects.

 

 

 

Josine de Winter, PhD

Research Fellow

Josine received her PhD in Muscle Physiology, holding a master in Human Movement Sciences and a teacher’s degree in Physiology and Anatomy. Her thesis focusses on the contribution of sarcomere dysfunction to muscle weakness in nemaline myopathy and how targeting sarcomere function can augment muscle performance.  In the Beggs Lab, Josine dives into the exciting world of zebrafish. She develops zebrafish models for nemaline myopathy 6 - which is caused by mutations in the KBTBT13 gene. By studying these models, she aims to further unravel how mutations in KBTBD13 cause muscle weakness and to identify therapeutic targets for treatment strategies. 

 

Melissa Fernandes, BS

Research Assistant

Melissa graduated with a B.S from Northeastern University and has been working with the Beggs' team since 2019.  Melissa works with families from within Boston Children's Hospital as well as nationally and internationally to organize patient recruitment and enrollment in addition to coordinating with referring clinicians.

 

 

 

Casie Genetti, MS, CGC

Project Manager & Genetic Counselor

Casie Genetti is a genetic counselor specializing in the genetics of congenital myopathies as well as rare and undiagnosed disorders. She received her Master’s degree in Genetic Counseling from Boston University in May 2015 and began working with the Beggs Congenital Myopathy Research Program at Boston Children’s Hospital in June 2015. She acts as a liaison between the laboratory and research participants/referring clinicians. She recruits study participants, designs recruitment materials, gathers and analyzes clinical data, as well as to responds to inquiries about inheritance patterns, research studies, and general information about the congenital myopathies. Casie also reports recent developments and coordinates follow up studies with referring physicians and CLIA-certified laboratories.

 

Clara Hildebrandt, MD

Resident/Pgy4

Clara Hildebrandt, MD is a PGY-4 in the combined Pediatrics-Genetics Residency at Boston Children's Hospital. She is working on a project correlating genotype to phenotype in patients with clinical or molecular diagnosis of nemaline myopathy, as well as working to identify modifiers of disease severity.

 

Divya Jayaraman, MD

Neurology Resident

Divya Jayaraman graduated from Harvard College in 2008 with an undergraduate degree in Biochemical Sciences. She joined Christopher A. Walsh's lab next door to the Beggs lab in August 2010 as an HST MD-PhD student at Harvard Medical School.  Her work in the Walsh Lab focused on functional studies of genes that cause microcephaly and culminated in the successful defense of her dissertation, titled "The role of centriole biogenesis in control of brain size", in June 2015. She graduated from the MD-PhD program in May 2017 and went on to pediatrics/child neurology residency at Boston Children's Hospital. Having taken care of several children with neuromuscular disease in her primary care clinic whom she referred to subspecialty neurology and neuromuscular clinics, she has become interested in neuromuscular diseases both as a clinical specialty and as a research area where there is both significant need and tremendous ongoing excitement about identifying disease genes, understanding disease mechanisms and designing therapeutics including gene therapies. She joined the Beggs lab part-time in spring of 2020 and is writing an R25 research proposal to fund research toward the last 6 months of residency (with an option to extend by a year), during which she plans to study the role of selenoproteins in neuromuscular disease, as well as genomic sequence data analysis of patients with potentially undiagnosed neuromuscular disease to discover new disease genes.

 

Pam Lin

Co-op Student

Pam Lin is a 5th year biology major at Northeastern University and is currently doing an internship with the Beggs’ team. She helps enroll patients and families into clinical studies and acts as a helping hand to the research assistants and genetic counselors. 

  

Jill Madden, PhD, MSc, CGC 

Project Manager & Genetic Counselor

Jill graduated with a B.S. and Ph.D. from Iowa State University and earned her Master’s Degree in Genetic Counseling from the University of British Columbia in 2018. She has been working with the Beggs' team since 2018.  Jill is a project manager of the GDC, overseeing patient enrollment, coordination of genomic sequencing and reanalysis, and investigator-initiated studies.

 

Benton Mitchell, BS

Research Assistant

Benton is a research assistant and has been a team member of the Beggs Lab since 2016. He works with the zebrafish model to investigate congenital myopathy diseases, both to better understand the pathology behind these conditions as well as to identify relevant therapies to treat their human counterparts.

 

Behzad Moghadaszadeh, PhD

Instructor in Pediatrics

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.

 

Heather Paterson, BS

Research Assistant

Heather graduated with a B.S. from Tulane University and has been working with the Beggs' team since 2018.  Heather works with families from within BCH as well as nationally and internationally to organize patient recruitment and enrollment in addition to coordinating with referring clinicians.

 

Jaclyn Prystupa, MS

Research Technologist

After completing her Masters degree in molecular, population, and conservation genetics, Jaclyn has since refined her skills to also include applied genomics while working in both research and commercial oriented laboratories. She joined the Beggs' team in late 2018, and has since been using her skills to help with the Beggs' SELENON project.

 

Emily Troiano, MS

Lead Research Technologist

Emily has worked in the Beggs laboratory since 2013.  She acts as Laboratory Manager and supports several projects in the laboratory, including studies on the genes ACTA1, ACTN2, ACTN3, KBTBD13, MTM1, RYR1, SELENON, TNNT1, TTN, and others.  Her research has focused on animal models and treatments of congenital myopathies.

 

Wathone Win, BS

Research Assistant

Wathone is a Research Assistant in the Beggs lab, and has been part of the Beggs team since 2017.  She works primarily on providing genetic analyses for patients and their families. This includes but is not limited to setting up PCR reactions, analyzing DNA sequencing, clinical databasing, and genetic pedigree analysis which together can help diagnose rare mutations. Wathone also helps with many other projects involving the development of functional zebrafish animal models for those mutations that are found to be pathogenic.

 

Beggs Laboratory Affiliates

 

Pankaj Agrawal, MD, MMSc

Medical Director, Gene Discovery Core
Physician in Medicine, Division of Newborn Medicine
Associate Professor of Pediatrics, Harvard Medical School

Agrawal Laboratory Website

Amy O’Connell, MD PhD
Shideh Kazerounian, PhD 
Qifei Li, PhD
Jasmine Lin
Jill Madden, PhD, MS

Sarah Morton, MD, PhD
Samantha Rosen
Klaus Schmitz-Abe, PhD
Monica Wojick, MD

 

Matthias Lambert, PhD

Research Fellow

Matthias is from Saint-Omer, France. He joined the lab in February of 2017 after receiving his PhD. in physiology and health sciences from Lille University in France. His doctorate research was completed under the supervision of physiologist, Pr. Bruno Bastide and proteomics professor, Dr. Caroline Cieniewski-Bernard (URePSSS lab). While completing his PhD., Matthias focused on the characterization of a post-translational modification, O-GlcNAcylation, in the physiology of skeletal muscle. Matthias determined that O-GlcNAcylation is a fine modulator of the sarcomere structure and identified key proteins (i.e. desmin, alphaB-crystallin) that might be involved in myofibrillar myopathies through this process.

In the Kunkel lab, his research is separated in three major themes: (i) working on the modulation of genetic modifiers in Duchenne Muscular Dystrophy (DMD), (ii) understanding the initiation and progression of Facioscapulohumeral muscular dystrophy (FSHD), (iii) studying and modeling nemaline congenital myopathies. Matthias is utilizing different models (from IPSCs and primary cell cultures, to zebrafish and rodents) and broad range of wet lab techniques (from genetics and molecular biology including CRISPR-Cas9, to biochemistry and muscle physiology assays) to lead his research. Matthias has a strong passion for rare muscle disease research as a patient living with congenital myopathy.

In his spare time, Matthias enjoys playing the drums while discovering new food (and drinks) and culture from all over the world. He is also an active member and former ambassador of the French Muscular Dystrophy Association (AFM-Telethon).

 

Jeffrey Widrick, PhD

Research Associate

Jeff joined the Kunkel Lab in 2013 after completing an undergraduate degree from State University of New York at Cortland, a master’s degree from the University of Massachusetts at Amherst, and a doctorate in Exercise Physiology at the Human Performance Laboratory at Ball State University. Jeff did post-doctoral training in muscle physiology in the Department of Biology at Marquette University with support from a NASA Postdoctoral Research Fellowship. His early work also consisted of studying the detrimental effect of non-weight bearing actions on muscle function paired with the development of the exercise-based interventions. Within the Kunkel Lab, Jeff’s interest is focused on understanding how dystrophies and myopathies impact muscle contractility, looking at how contractile function can be improved or restored by novel therapeutic interventions. Jeff approaches his work across several levels of biological organization, from small zebrafish larvae to human muscle biopsies. By providing a physiological prospective with focus on muscle strength and performance, Jeff is able to translate functional assays that are typically performed on rodent muscles to the Kunkel lab zebrafish model.

 

Beggs Laboratory Collaborators

 

Vandana A Gupta, PhD

Assistant Professor, Brigham and Women’s Hospital and Harvard Medical School

 

Michael W Lawlor, MD

Assistant professor, Medical College of Wisconsin

This page was last updated August 20, 2020.