2021 FSHD Virtual Family Day
Another successful patient day for the University of Rochester Medical Center. This year our meeting was slightly different as it was a virtual FSHD Family Day. The speakers covered a variety of topics with the emphasis on the latest developments in FSHD research.
- Click on the video LINK
- Below is the link to the video presentation timestamps of each session:
- 07:07 Dr. Tawil: Welcome/Opening Remarks.
- 7:07 - 58:05 Promising New FSHD Therapies Focused on Blocking DUX4 Gene
- 58:05 - 1:03:31 Q & A
- 1:03:31 - 1:34:04 Getting Ready for Upcoming Clinical Trials
- 1:46:06 - 2:19:06 Physical Therapy and FSHD
- 2:19:26 - 2:50:01 Tracking FSHD Disease Progression with MRI
- 2:50:01 - 2:52:20 Q & A
- 3:15:33 - 3:39:27 Patient Advocate
- 3:52:23 - 4:13:37 FSHD Society Community Updates
- 4:13:37 - 4:31:20 Q & A
- 4:39:17 - End Question & Answer Session
Summary and Videotaped Presentations of The 6th Fields Center FSHD Family Day, April 7, 2018.
Another successful patient day at the University of Rochester Fields Center FSHD Family Day. The speakers covered a variety of topics with emphasis on the latest developments in FSHD research.
- Click on the video LINK
- Below is the link to the video presentations of each of the sessions:
- 00:00 Dr. Tawil: Welcome/Opening Remarks.
- 9:58 Dr. van der Maarel: New Diagnostic Tools to Improve DNA Diagnosis and Explain Clinical Variability.
- 47:19 Katy Eichinger: Physical Therapy and Exercise.
- 1:27:38 Dr. Tapscott: The Cause of FSHD and Opportunities for Drug Development.
- 2:15:51 June Kinoshita: The Path to Treatment is Paved by Engaged Families.
- 2:35:00 Question & Answer: Ask the Researchers.
- 3:04:25 Dr. Statland: Clinical Trial Readiness.
- 4:38:42 Leann Lewis: Genetic Counseling & FSHD.
- 5:03:35 Dr. Tawil: FSHD Care Guidelines: What Do they Mean?
- 5:32:05 Patient Panel: “Never give in. Never, never, never, never, never…never give in.” Round Table Discussion and Q & A featuring insights from Patients and Family Members.
Join Us for the 6th Family Day on Saturday, April 7, 2018
The University of Rochester, Leiden University Medical Center and the FSH Society are jointly sponsoring the 6th Fields Center family day. This will provides an opportunity to present to you the latest developments in FSHD care and research from the experts in the field. As space is limited, we are asking those interested in attending to contact us before March 30, 2018. For registering, you can either call Karen Lee at (585) 275 3614, email us at mailto:FieldsCenter@urmc.rochester.edu or online at the FSH Society website and type in 2018 Family Day Rochester. Below is agenda for the meeting.
Summary and Videotaped Presentations of The 5th Fields Center Patient Day, May 14, 2016
Another successful patient day at the University of Rochester Fields Center for FSHD and Neuromuscular Research. The speakers covered a variety of topics with emphasis on the latest developments in FSHD research. Below is the link to the video presentations of each of the sessions:
If you have any questions, concerns, or comments on this video presentation please contact the Fields Center by phone at 585-275-6372 or by email at Fields Center@URMC.Rochester.edu. We appreciate you taking the time to view these presentations that were delivered at the Fields Center Patient Day Meeting in Rochester, NY on Saturday, May 14, 2016.
The 5th Fields Center Patient Day, Saturday May 14, 2016
The 5th Fields Center Patient Day will be held from 9:00 a.m. to 3:00 p.m. at the University of Rochester Medical Center, Helen Wood Hall, 255 Crittenden Blvd, Rochester, NY 14607. Space is limited, call Karen Lee at 585.275 6372 if you are interested in attending. Podcasts of all the presentations will be available at the Fields Center Website for those who cannot attend.
Our FSHD partnership – researchers, clinicians, patients and family members - has come a long way in the last two years. Please join us to hear internationally respected experts report back to you - telling you what we’ve learned, where we are and where we are heading. We’ll touch on progress in the clinic, in the laboratories, and on the bridge from research to practice. This report is our shared story – written page by page during each research and clinic visit. Come join us to review the tale. Featured presentations by:
- Rabi Tawil, MD,University of Rochester: “Where We Are in the Translational Process”
- Silvere van der Maarel, PhD, Leiden University: "Genetic Modifiers of Disease Presentation and Progression in FSHD”
- Stephen Tapscott, MD, PHD, The Fred Hutchinson Cancer Research Center: "Path Toward Understanding FSHD and Developing Therapies”
- Leo Wang, MD, University of Washington: "The Connection between strength muscle biopsy and MRI changes in FSHD"
- Jeffrey Statland, MD, University of Kansas: "New outcome measures for FSHD Clinical trials: Results of ongoing URMC and KU observational studies"
- June Kinoshita, FSH Society: "Engaged patients: Essential partners for progress"
- Don Henderson, Chief lab Manager: New Feature, Don will take you on a video-taped tour of the labs
Fields Center Director Leads National Effort to Develop Evidence-Based FSHD Care Guidelines
Dr. Tawil was charged by the American Academy of Neurology (AAN) to lead a panel of experts in developing the first set of evidence-based clinical care guidelines for FSHD. These guidelines were published in July 2015 and are accessible both to physicians and the public.
Field Center Investigators Organize 2nd Clinical Trial Preparedness Workshop in Rochester, NY on MAY 29-30, 2015
Drs. Tawil, van der Maarel and Tapscott organized the 2nd FSHD Clinical Trial Preparedness Workshop in Rochester, NY on May 29-30, 2015. The Fields Center investigators also organized the first such workshop held in Leiden, The Netherlands, April 8-9, 2013. The meeting was funded by the FSH Society, FSHD Global and FSHD Stichting and 50 individuals from the United States, several European countries and Australia. Notable also was the presence of several drug companies underlying the increasing interest of drug companies in developing treatments for FSHD.
Fields Center Investigator, Dr. Silvere van der Maarel Wins Prestigious Princess Beatrix Prize
Fields Center investigator, Dr. Silvere van der Maarel, wins the prestigious Princess Beatrix prize for his outstanding work on FSHD. The prize of one million Euros will contribute to his ongoing research in FSHD. The Princess Beatrix Fund provides grants for scientific research in The Netherlands and awards the Princess Beatrix prize to the most outstanding researcher in Holland once every four years.
Fields Investigators Publish Comprehensive Review of FSHD Mechanisms
The Fields Center investigators have published the most comprehensive and up to date review of the pathophysiology of FSHD. This review article is published in the journal Skeletal Muscle. The article, published in June has garnered a lot of attention in this open access journal which reports 2769 total accesses to the journal website and this does not take into account access from other medical research engines such as Pub med.
Highlights of the 4th Rochester FSHD Patient Day
The conference room at the University of Rochester's Helenwood Hall was packed to capacity (65) in anticipation of the 4th Rochester FSHD Patient Day. The last patient day was held in 2010 and the audience was eager to hear about the most recent developments in FSHD research. They were not disappointed. SInce the breakthrough discovery by Center investigators of a unifying mechanism for FSHD, there has been numerous advancements including the discovery of the genetic basis for FSHD type 2 and an understanding of the consequences of turning on of the DUX4 gene, the principal cause of muscle weakness in FSHD. This improved understanding has shifted the FSHD research field towards looking for treatments that turnoff or disrupt the effects of the DUX4 protein that is abnormally produced in muscle.
Several experts in FSHD, including the Center's principal investigators spoke about the various aspects of FSHD research as well as about the increasing understanding of the clinical manifestations of this muscular dystrophy. Audience members were extremely pleased with the pace of progress in FSHD research. Following the scientific presentations, a panel of FSHD patients and family members discussed how they cope with FSHD as individuals and families. This was a very emotional and inspiring presentation not only for the audience but also for the scientists whose resolve to keep moving forward was strengthened by what they heard.
For those who were unable to make it the patient day, we are posting the presentations of the all the speakers:
Rabi Tawil, MD, Center Director, University of Rochester Medical Center Dr. Tawil gave the opening remarks and later presented a description of the clinical manifestations of FSHD type 2:
- Where we are and where we are going: Click here to see the presentation.
- FSHD type 2: Differences and similarities to FSHD1: Click here for see the presentation.
- Stephen Tapscott, MD, PhD. Fred Hutchinson Cancer Research Institute, Seattle: Dr. Tapscott is a Center principle investigator and an integral part of the collaboration on FSHD research with Dr. van der Maarel and Dr. Tawil since 2007. Dr. Tapscott spoke about therapeutic opportunities in FSHD:
- Silvere van der Maarle, PHD, Center co-Director and Chair, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands: Dr. van der Maarel spoke about disease mechanisms in FSHD.
- Katherine Mathews, MD, Professor of Pediatric Neurology at the University of Iowa: Dr. Mathews is a pediatric neuromuscular specialist with a long standing interest in FSHD research especially in the childhood onset form of FSHD.
- Jeffrey Statland, MD, Senior Instructor in Neurology, University of Rochester Medical Center: Dr. Statland has been doing FSHD research at the University of Rochester for the past four years. Starting in July he will be Assistant Professor of Neurology at the Kansas University in Kansas City where he plans to continue his FSHD research.
We would like to thank the members of the patient and family member panel for their valuable contribution to this informative patient day. We also want to thank all patients and family members who have participated in our research studies. The recent discoveries were made possible by an unprecedented open collaboration between researchers at different institutions. However, none of these advances are possible without the support and active participation of the FSHD community.
FSHD Patient Day: April 26, 2014
The Fields Center is hosting its 4th FSHD Patient Day on Saturday April 26th, 2014. We hope to provide the FSHD community with the most up to date information about FSHD research and the progress that has been accomplished in the last several years. Several prominent speakers from across the United States and the Netherlands will be present. In addition to the scientific and clinical presentations, there will be an "ask the experts" panel discussion during which questions from the audience will be answered. Please click on this link to view the Patient Day program and information about how to register for the event. We hope you can join us.
FSHD Clinical Trials Readiness Workshop
As recent research has identified the underlying cause of FSHD, the emphasis has shifted to the development of treatments. One major obstacle to conducting effective clinical trials is the absence of the appropriate tools for measuring response to treatment. To develop such clinical trial tools, an international workshop on clinical trial preparedness in FSHD was held in Leiden, The Netherlands on April 8-9, 2013. The workshop was organized by Drs. Tawil and Tapscott and supported with funding from the whil. Research Foundation. The workshop included thirty participants from six countries representing multiple institutions as well lay organizations including the The FSH Society, FSHD Europe and the whil. Research Foundation. Participants discussed access to patients for clinical trials, clinical outcome measures and the development of relevant serum and tissue biomarkers. The workshop summary and recommendations were recently published in the journal Neuromuscular Disorders.
Fields Center Scientists Pinpoint the Genetic Cause of FSHD type 2
Fields Center Scientists, in a new study published in the journal Nature Genetics on November 11th, made an important discovery leading to the identification of the gene that causes FSHD type 2 (FSHD2). In 2010 Fields Scientists published an article identifying the cause of FSHD type 1 which accounts for about 95% of cases of FSHD. Intensive research over the last several years has now resulted in identification of the genetic cause of FSHD2 (click here for the UR press release for details).
FSHD1 is caused by a loss of a large number of repetitive pieces of DNA on chromosome 4 that loosens the DNA structure and allows a gene called DUX4 to be turned on. DUX4 is usually turned off in mature tissue like muscle and is toxic to muscle fibers when it is abnormally turned on. Patients with FSHD2 have a normal number of repeats on chromosome 4 and yet have a loosened DNA structure on chromosome 4, just like individuals with FSHD1, that allows the abnormal turning on of the DUX4 gene. Fields Center scientists reasoned that another gene is responsible for this change in the DNA structure. By examining a number of families with FSHD2, the have uncovered defects in another gene called SMCHD1. The defective SMCHD1, has now been shown to cause the unraveling of the DNA structure on chromosome 4.
This study is the result of a close international collaboration of Fields Center Scientists at the University of Rochester Medical Center, the University of Washington and the Fred Hutchinson Cancer Research Center in Seattle as well as Leiden University Medical Center in the Netherlands.
New Publication from Fields Center Scientist About DUX4 Methylation
A new publication by Fields Center scientist examines the role of methylation in FSHD. The degree of methylation on the tip of chromosome 4 determines how tightly bound the DNA. The Center scientists have previously shown that low methylation levels in DNA derived from blood results in more open DNA structure and allows the expression of the DUX4 gene which is normally silenced. They have now confirmed these changes in a large number of samples of DNA derived from muscle cells as well as from DNA from fibroblast cells derived from skin. In addition to the Fields Center, funding for this study was provided by the Geraldi Norton Foundation and the Eklund Family, NIH as well as scientific grants from the Netherlands.
Fields Center Scientist Receives Prestigious World Muscle Society Award
A Fields Center scientist, Dr. Richard Lemmers working in Leiden, The Netherlands was awarded the World Muscle Society's President Prize for Young Myologist of the Year. This prestigious prize was awarded to Dr. Lemmers during the
16th International World Muscle Society Congress held on October 18-22nd, 2011 in Almancil, Portugal. This prize was awarded for Dr. Lemmers significant contributions to FSHD research. Dr. Lemmers research, working in Dr. Silvere van der Maarel laboratory as part of the Fields Center collaborative research effort, was instrumental in the recent determination of the importance of the DUX4 gene in FSHD. Dr. Lemmers was the lead author in the pivotal Science journal article that provided the first solid proof that the DUX4 gene played a major role in causing FSHD.
Fields Center Scientist Publish Review Article
Fields Center scientist publish a review article describing the latest findings on the molecular mechanism of FSHD in Trends in Molecular Medicine.
Highlights from the 3rd Annual Patient Day on Saturday, September 18, 2010
What an exciting time to gather to talk about FSHD research! In August 2010, Fields Center researchers published their breakthrough findings about the genetic mechanism responsible for FSHD – findings that took almost 20 years to discover! Our 3rd Patient Day was the first opportunity after our findings were released where patients and family members could hear, firsthand, how DUX4 causes FSHD. DUX4, a gene that makes a protein harmful to muscle cells, is more active than it should be in some people, resulting in the disease. After an exciting keynote address by Mr. Kees van der Graff, president of the Dutch FSHD Foundation, attendees were treated to a day full of presentations describing these research findings and the best practices for medical care. Along the way, some of our less camera shy guests gathered for a quick photo while others chatted over dessert.
At the end of the day, our guests reported the following:
- Attendees gave this conference an overall rating of “Excellent,”
- 100% of respondents indicated that they would return for a future conference, and
- 100% of those responding said they would recommend that other people attend a future Fields Center Patient Day as well.
We were honored to open and close the meeting with the personal stories of people with FSH dystrophy, stories that were touching and inspirational. These sessions received the highest approval ratings of all!
For people unable to attend this year, we are pleased to post links to this year’s presentations on our website for review. To access these materials, click here. The Fields Center Directors offer special words of thanks to our presenters for sharing their expertise! We hope that you will find these slides informative and that you will consider joining us next year to hear these talks in person. Until then, we encourage you to check our website regularly for updates and for information on next year’s meeting! Hope to see you there!
Rabi Tawil, MD & Silvere van der Maarel, PhD
Fields Center scientists publish two additional research articles on FSHD
Two new articles by Fields Center scientists were published in October providing further support of the breakthrough discovery published in the Science article published in August of 2010.
The first article, published in the online journal PLoS Genetics, provides further proof of the unifying theory of FSHD published recently. The present article shows that protein from the DUX4 gene, normally expressed only in germline cells (sperms and eggs) continues to be expressed in individuals with FSHD whereas it is turned off in individuals who do not have the FSHD genetic defect. This new information provides further support to the idea that one treatment approach will be to try to suppress the expression of this gene.
The second publication, published in the journal Neurology with Dr. Rabi Tawil as senior author, provides additional description of patients with FSHD type 2 (FSHD2). Such patients, who represent less than 5% of individuals with FSHD do not have the loss of the D4Z4 repeat DNA on chromosome 4. They, however, have the same unwinding of the chromosome structure that is seen in patients with loss of the D4Z4 repeats. The present investigation shows that individuals with FSHD2 are clinically identical to the common form of FSHD (also known as FSHD1). The evidence also support that fact that although FSHD1 and FSHD2 may have genetic differences at the DNA level, they ultimately cause FSHD through a similar mechanism.
Fields Center scientists publish breakthrough research on FSHD
Fields Center scientists make an important discovery that significantly advances our understanding of the disease mechanism in FSHD. The scientists’ findings were published today in the prestigious journal Science (click here to view article). For a number of years, the genetic defect resulted in muscle weakness in FSHD remained unknown and several theories were proposed but none of which could be confirmed. The present research provides a unifying theory as to the mechanism underlying FSHD and identifies the probable gene (DUX4) whose malfunction results in FSHD. As a result of this discovery, scientists now have a target to go after for developing treatments for FSHD.
Fields Center researchers land $6 million NIH Grant
Building on the successful research work and infrastructure established over the past two years, the scientists and collaborators from the Fields Center for FSHD & Neuromuscular Research have secured a $6 million dollar, five year grant to continue their ground-breaking efforts. This grant comes in the form of an FSHD (FSH dystrophy) Program Project Grant from the National Institute of Neurological Disorders and Stroke NINDS. The award provides funding for multiple integrated and coordinated research projects on FSHD to be conducted at multiple institutions world-wide. Acknowledging and rewarding the pioneering efforts of the Fields Center investigators - Rabi Tawil (Rochester, NY), Silvere van der Maarel (Leiden, The Netherlands) and Stephen Tapscott (Fred Hutchinson Cancer Research Center) - the Program Project also supports research projects by Daniel Miller (University of Washington) and Galina Filippova (Fred Hutchinson Cancer Research Center). And, in keeping with the Fields Center’s core image, the “Center Without Walls,” this grant will further collaborations with a number of scientists in the United States, Belgium and France that are leading the way down solid pathways to progress.
This Program Project represents the largest coordinated research work on FSHD to date and is one of the largest NIH grants awarded to researchers in the Netherlands. This funding is gratefully accepted as it will help us continue to make solid advances and to accelerate the rate of progress in FSHD research.
Highlights from the Best Practice Meeting for the Molecular Diagnosis of FSHD - June 9, 2010
The Fields Center’s “Best Practice Meeting for the DNA Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD)” was held on June 9, 2010 at the Leiden University Medical Center, Leiden, The Netherlands. Forty-seven participants from sixteen countries participated in this workshop. The primary objective of the workshop was to develop guidelines for the DNA diagnosis of FSHD. The first half of the meeting included lectures on the clinical and genetic diagnosis of FSHD. During the second half of the meeting, recommendations were formulated based on an earlier distributed questionnaire, experience, and on the consensus of expert opinion. These guidelines will be drafted into a manuscript for further dissemination. The Fields Center Directors want to recognize the following organizations for providing financial support for this meeting: The Fields Center for FSHD & Neuromuscular Research, The Dutch FSH Foundation, Global FSHD, The FSH Society, Spieren voor Spieren ("Muscles for Muscles") and the Muscular Dystrophy Association. Thank you for underwriting this important effort!
Best Practice Meeting for the Molecular Diagnosis of FSHD - June 9, 2010
During the highly successful European Neuromuscular Center FSHD Workshop in Jan 2010, attendees concluded that there was a need for further discussion to better define the “gold standard” for diagnostic procedures for FSHD. With evidence of the increasing complexity of the genetics of FSHD, it is important to reach an international consensus on the molecular testing methods. To that end, Fields Center investigators (Richard Lemmers, PhD; Silvere van der Maarel, Ph.D.; and Rabi Tawil, MD) invited key colleagues from around the world to join them at the Leiden University Medical Center on June 9, 2010 to participate in the “Best Practice Meeting for the Molecular Diagnosis of FSHD”. The goal of the meeting is to generate consensus regarding the genetic testing protocol for FSHD. Topics for discussion will include: current status of testing in different laboratories worldwide, recent developments regarding the genetics of FSHD, the diagnosis of FSHD2, new technologies, and prenatal diagnosis. Confirmed speakers include Prof Dr Bert Bakker (Leiden, Netherlands), Dr. Yukiko Hayashi (Tokyo, Japan), Dr. Richard Lemmers (Leiden, Netherlands), Dr. Nicolas Levy (Marseille, France), Dr. Peter Lunt (Bristol, UK), Dr. Suzanne O’Shea (Bristol, UK), Dr. George Padberg (Nijmegen, The Netherlands), Dr. Rossella Tupler (Modena, Italy) and Dr. Meena Upadhyaya (Cardiff, UK).
Response to the meeting invitation has been excellent to date. Participants were asked to complete a questionnaire prior to the meeting to provide information that will be discussed when the group assembles. This step will help gather and disseminate best practice options from participants who are active and interested in genetic diagnosis of this complex disease. Upon completion of the meeting, the recommendations of the assembly will be published for use by the scientific and medical communities.
Recognizing the importance of this effort, the following organizations generously agreed to financially sponsor this meeting:
- The Fields Center for FSHD & Neuromuscular Research
- The Dutch FSH Foundation
- Global FSHD
- The FSH Society
- Spieren voor Spieren ("Muscles for Muscles")
- Muscular Dystrophy Association
- AFM (Association Francaise contre les Myopathies),
Please join us in thanking them for their contributions toward the success of this endeavor!
To view the final program of the meeting, please click here. For more information, please contact us. Please watch this site for more information after completion of the meeting.
Publication of the Proceedings of the European Neuromuscular Center
FSHD Workshop Update
On January 15 – 17, 2010 in Naarden, The Netherland, the Fields Center helped organize and sponsor a European Neuromuscular Center FSHD Workshop. Twenty-four participants met to develop standards of care in diagnosis and management of patients with FSHD. A manuscript entitled “171st ENMC International Workshop: Standards of care and management of facioscapulohumeral muscular dystrophy” was developed from the discussions at this meeting; The proceeding of the meeting was published in the Neuromuscular Disorders journal.
European Neuromuscular Center FSHD Workshop Jan 15-17, 2010 :
The Fields Center investigators along with colleagues from the Netherlands have organized an international conference on "Standards of Care and Management of FSHD". This workshop is sponsored by the European Neuromuscular Center (ENMC) and will be held in Naarden, The Netherlands, on January 15-17, 2010. This workshop will outline standards of care for FSHD as well as develop outcome measures to be used in future clinical trials.
First International Donation received from Mr. Daniel Frenzel
Mr. Daniel Frenzel, of Germany, contacted us by email to inquire about donating to Fields Center research programs. We were honored to receive a sizeable donation from Mr. Frenzel shortly thereafter. His gift will be support a joint project conducted in Rochester, Leiden and at the Institut de Myologie in Paris to create immortalized cells lines that originate from muscle biopsy samples taken from individuals with FSHD. These cell lines are ideal to study the underlying mechanisms that lead to FSHD and can be used to test for treatments that reverse the effects of the genetic defect on the muscle. Mr. Frenzel told us that he donated to the Fields Center and to FSH research “because then others may do they same.” Thank you, Mr. Frenzel, for your leadership and support! We hope that your example encourages others to participate in or to donate to FSH research. Your donation will make a real and immediate difference on the research conducted on two continents!
Flint Creek Band Benefit Concert
The Fields Center received a call from a patient and long-time supporter of FSH research at the University of Rochester, informing them that the Flint Creek Band was playing a benefit concert in Shortsville, NY, on September 19, 2009. A portion of the proceeds from the concert were donated to the Fields Center to apply toward FSH research projects. This donation is our first donation from people who have participated in our studies and who, hopefully, may benefit from this work. We are grateful to our patient and to Flint Creek for including the Fields Center in the array of worthy causes that need the support and participation of patients and community members.