Collaborations

The Fields Center’s main objective is the advancement of knowledge about the underlying cause of FSHD (FSH dystrophy) with the ultimate goal of finding effective, targeted treatments.  To that end, we have established multiple collaborations with researchers at other institutions and have provided many others with essential biologic resources to assist in their research endeavors.

Past and Present Fields Center Collaborations

  • Radboud University, Nijmegen, Netherlands:Professors George Padberg and Baziel van Engelen are major collaborators of the Fields Center.Dr. Padberg is a world authority on the clinical and genetic features of FSHD and has written extensively on the subject.The Fields Center is working on several clinical research projects with both Drs. Padberg and van Engelen including organizing a conference on the management of FSHD held in 2009 in Naarden, Netherlands under the sponsorship of the European Neuromuscular Center with support from the Fields Center and subsequently a workshop on clinical trials preparedness in FSHD in Leiden in 2013..
  • Walter and Eliza Hall Institute of Medical Research, Parkville, Australia: Dr. Marnie Blewitt was instrumental in understanding the function off the SMCHD1 protein in X-inactivation and is collaboration with the Fields Center in studying the epigenetic of SMCHD1-associated FSHD2.
  • University of Texa, San Antonio: Dr. Janine Cody has a long standing interest in the 18p- syndrome which can sometimes include deletion of the SMCHD1 gene. Center investigators have teamed up with Dr. Cody to see if SMCHD1 haploinsufficiency predisposes to FSHD.
  • Kansas University, Kansas City: Dr. Jeffrey Statland is assistant professor of Neurology who worked with Dr. Tawil at the University of Rochester for four years on FSHD. He has published several papers that have helped improve our understanding of disease progression in FSHD and the incidence of respiratory involvement and retinal vascular involvement in FSHD. He will continue his work on FSHD in Kansas City and his collaboration with the Fields Center.
  • University of Rochester, Rochester, NY: Dr. Chad Heatwole is assitant professor of Neurology with expertise in patient reported outcome measures. Dr. Heatwole has developed an FSHD-specific patient reported outcome measure, a crucial outcome measure for future therapeutic trials in FSHD.
  • University of California, Irvine, CA: Dr. Sara Winokur has collaborated closely with Fields Center investigators for many years.Her laboratory has done some of the early FSHD expression profiling studies and has described the unique relationship between 4qtel and the nuclear envelope. Currently Dr. Kyoko Yokomori, Professor in the Department of Biological Chemistry is studying the epigentics of FSHD.
  • Tulane University, New Orleans, LA: Dr. Melanie Ehrlich is a molecular geneticist with an interest in methylation changes in chromatin as it relates to cancer.She has used her expertise to study the chromatin and methylation changes on 4q35 in FSHD.The Fields Center has provided myoblast cell lines and other resources to Dr. Ehrlich who has in turn obtained muscle biopsies to help the Fields Center generate additional cell lines.

  • University of Minnesota: Dr. Michael Kyba has an interest in the therapeutic potential of stem cells.He is testing the hypothesis that DUX4 derepression in muscle stem cells results in FSHD.The Fields Center has provided Dr. Kyba with a number of myoblast cell lines.
  • McMaster University, Hamilton, Canada: Dr. Mark Tarnopolsky is a professor of Neurology and expert in neuromuscular metabolic disorders. He is currently assisting the Fields Center in collecting clinical data as well as blood and muscle biopsy samples for use in our studies.
  • Institut de Myologie, Paris, France: Dr. Jillian Butler Brown from the French Institute of Myology is collaborating with Dr. van der Maarel in Leiden in the development of an immortalized FSHD cell line.
  • San Raffaele Scientific Institute, Milan, Italy: We have shared bioresources with Dr. Davide Gabellini in his ongoing research on the role of a long non-coding transcript in FSHD.
  • Centre Hospitalier Universitaire, Nice, France. Dr. Sabrina Sacconi is a neurologist at the Centre Hospitalier Universitaire, in Nice. She has collaborated closely with Drs. van der Maarel and Tawil in describing the genetics and clinical manifestations of FSHD2.
  • University of Iowa: Dr. Steven Moore is professor of Pathology at the University of Iowa. The Fields Center has shared FSHD2 fibrobaslt cell lines with Dr. Moore to help in the development of a molecular diagnostic test for FSHD2.

 

 

For more information, please contact the Fields Center FieldsCenter@urmc.rochester.edu