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Kunkel Laboratory | Lab Members

Current Lab Members 

Louis M Kunkel, Ph.D.


Marielle Thorne

Marielle Thorne, Lab Manager

Joined the Kunkel Lab in September of 1998. She holds a bachelors degree in Biology from Boston College. Marielle is responsible for general lab upkeep, safety and ordering. She also does extensive work on the Interstitial Cystitis (IC) and Painful Bladder Syndrome (PBS) projects, working to identify genetic causes of IC and PBS using exome genomics. She is also involved in setting up new assays to look at locomotion in disease verse non-disease fish. Marielle enjoys making birthday cakes for the lab and is from Hingham, Massachusetts. 


Jeff Widrick

Jeffery Widrick, Ph.D.

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. Jeff is from Massachusetts. 

  1. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. 2016.
  2. In vivo gene editing in dystrophic mouse muscle and muscle stem cells. 2016.
  3. Evaluation of electrical impedance as a biomarker of myostatin inhibition in wild type   and muscular dystrophy mice. 2015.
  4. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. 2014.
  5. Whole body periodic acceleration is an effective therapy to ameliorate muscular dystrophy in mdx mice. 2014
  6. MicroRNA-486-dependent modulation of DOCK3/PTEN>AKT signaling pathways improves muscular dystrophy-associated symptoms. 2014.
  7. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. 2013.
  8. Concurrent muscle and bone deterioration in a murine model of cancer cachexia. 2013.
  9. Eccentric contraction-induced injury to type I, IIa and IIa/IIx muscle fibers of elderly adults. 2012.
  10. An octaguanidine-morpholino oligo conjugate improves muscle function of mdx mice. 2011.
  11. Calcium-activated force of human muscle fibers following a standardized eccentric contraction. 2010.  


3

Angela Lek, Ph.D.

Joined the Kunkel Lab in August 2008. She completed her undergrad degree in Bioinformatics Engineering at the University of South Wales and received a Ph.D. from the University of Sydney for her thesis, “Evolutionary and functional studies of dysferlin”. In the Kunkel Lab, Angela is focused on the cellular and genetic pathways underlying Facioscapulohumeral Dystrophy (FSHD). Her ongoing projects include identifying the genetic markers of FSHD and generating a zebrafish model of FSHD to use for future drug screening. In her spare time she loves cooking, watching movies and spending time with her dogs. Angela is originally from Singapore, but has spent time living in Indonesia and then Sydney, Australia for many years until moving to Boston. 

  1. Emerging preclinical animal models for FSHD. 2015.
  2. Calpain cleavage within dysferlin exon 40a releases a synaptotagmin-like module for membrane repair. 2014
  3. MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. 2014.
  4. Calpains cleaved mini-dysferlin and L-type channels underpin calcium-dependent muscle membrane repair. 2013.
  5. Regulators of Vesicle Fusion for Auditory Neurotransmission, Receptor Trafficking and Membrane Repair. 2012.
  6. Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins. 2010.
  7. Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. 2011.
  8. Reduced plasma membrane expression of dysferlin mutants is attributed to accelerated endocytosis via a syntaxin-4-associated pathway. 2010.
  9. Are protein complexes made of cores, modules and attachments? 2008. 


Tracy

Yuanfan (Tracy) Zhang, Ph.D. 

Joined the lab in the fall of 2016 after receiving her Ph.D. from Johns Hopkins school of Medicine. Her thesis was completed under the guidance of Kathryn Wagner M.D. Ph.D. from Johns Hopkins and Kennedy Krieger Institute Genetic Muscle Center in Baltimore, Maryland. While working in Baltimore, Tracy developed a novel xenograft model for human skeletal muscle diseases and tested new gene therapy with the model. Working closely with the muscular dystrophy patients community during her graduate work has motivated her to stay in the field of muscular dystrophy while continuing to work on pushing more therapeutics from bench to clinic. In her spare time, Tracy is passionate about cooking and eating good food while exploring fun things to do around Boston.



Janelle

Janelle Spinazzola, Ph.D. 

Joined the Kunkel Lab in June 2015. She received her Ph.D. from the University of Pennsylvania. Her research in the Kunkel lab is focused on discovering disease modifiers and drug therapies for Duchenne Muscular Dystrophy. Janelle is from Melrose, Massachusetts. 



Ania

Anna Pakula, Ph.D

Joined the Kunkel Lab in October 2015 after graduating from Adam Mickiewicz University in Poland. She holds a Ph.D. in the myology field from the Free University in Germany. In the Kunkel Lab, Anna’s focus is on Facioscapulohumeral Dystrophy (FSHD) and Duchenne Dystrophy. Her interests include developing treatment strategies through injections and use of transgenic zebrafish models designed by Hiroaki Mitsuhashi. Through Anna’s focus on the main mechanisms behind FSHD, she has been working on Single Cell Transcriptomics on primary human muscle FSHD cells in order to characterize the cells regardless of DUX4 expression. Anna is an active member of the Women in Science Association in both Germany and the United States. In her spare time, Anna enjoys discovering different cultures through her many travels and is Thorn, Poland. 


Mattias

Matthias Lambert, Ph.D.

Joined the lab in the fall of 2017 after receiving his Ph.D. in physiology 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. While completing his Ph.D., Matthias focused on the characterization of the role of a post-translational modification, O-GlcNAcylation, in the sarcomere structure of the skeletal muscle and it’s involvement in muscle diseases. Using the C2C12 myotubes model, Matthias determined that O-GlcNAcylation is a fine modulator of the sarcomeric morphology, it is involved in interactions between key structural proteins such as desmin and alpha B-crystallin, and O-GlcNAcylation has O-GlcNAc binding sites on various proteins of interest. In the Kunkel lab, Matthias plans to first use a library of novel small molecules (which modulate different signaling pathways in the zebrafish sapje screening model) to modulate Jagged1 protein and restore dystrophic phenotype as seen in previous animal models. His second goal is to move these efficient molecules into a preclinical mouse model and create and new transgenic mouse line expressing Jagged1 in an inducible way. In his spare time, Matthias enjoys playing the drums while discovering new food and culture from all over the world. He is also an active member of the French Muscular Dystrophy Association. Matthias is from Saint-Omer, France. 


Lilly

Lillian Mead, Research Assistant

Joined the Kunkel lab in October 2015 after completing an undergraduate degree in Biology from Lake Forest College in Chicago. During her undergrad, Lillian worked with Dr. Amiel Rosenkranz at Rosalind Franklin University of Medicine and Science to observe changes in eating habits and stress reactions of female rats injected with progesterone. For the past year, Lillian has been collaborating on a multiple DMD and FSHD lab projects using zebrafish and mouse models. Lilly also assists with the maintenance of the labs muscular dystrophy mouse and fish models. In her spare time, Lilly works at The Handle Bar spin studio and enjoys exploring Boston. Lilly is from Yarmouth, Maine. 


Devin Gibbs

Devin Gibbs, Research Assistant 

Joined the Kunkel Lab in June of 2014. He completed a double major at Colby College in Biology and Music where he worked in Andrea’s Tildens lab determining the expression patterns of circadian rhythm proteins in crustaceans. For the past two years, one of Devin’s primary roles in the Kunkel Lab has been the maintenance of the labs muscular dystrophy mouse and fish models. Devin has also collaborated on a wide range of projects including drug screens in zebrafish and behavioral assays in mice. Devin is from Waterville, Maine.

*Devin will be joining the Molecular Biology Ph.D. program at UCLA, fall 2017



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