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Lab News

Peter and Takako Jones Lab

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Peter and Takako Jones attended the dinner and dance fundraiser for the Chris Carrino Foundation for FSHD

July 23, 2015

FSHD FoundationThe Chris Carrino Foundation for FSHD, founded and chaired by Chris Carrino, a sports play-by-play announcer for the Brooklyn Nets and nationally for the NFL and himself an FSHD patient, sponsors several fundraisers each year in the New York City area to raise money for FSHD research. Peter and Takako Jones annually attend their signature event, the Dinner and Dance Gala held each summer at Russo's on the Bay in Howard Beach, NY. This is a true first-class event, with spectacular food and drink, numerous unique auction items (e.g. road trip with the Nets on the team plane; signed jerseys and shows, etc.…), and plenty of dancing, with an appearance from the Brooklyn Nets Dance team. A really fun evening and for a good cause; check it out in 2016, date will be announced later on The Chris Carrino Foundation website.

The Chris Carrino Foundation has supported the Jones lab since 2013, providing vital funding for our successful FSHD-like mouse models. These mice are now being used for preclinical testing and therapeutic development for FSHD. We thank the Chris Carrino Foundation for their generous support!

Peter Jones presents seminar at the University of Washington School of Medicine

July 10, 2015

Peter Jones presented a seminar at the University of Washington School of Medicine, "FSHD is a model epigenetic disease."

Peter Jones Seminar BU School of Medicine

July 7, 2015

Peter Jones presented a seminar at Boston University School of Medicine, "Facioscapulohumeral muscular dystrophy is a model for individual epigenetics mediating severity of disease presentation."

Peter Jones presents at the University of Nevada, Reno School of Medicine

May 14, 2015

Peter Jones presented a seminar at the University of Nevada, Reno School of Medicine, "Molecular mechanisms of FSH muscular dystrophy."

Takako Jones’ paper published online in the journal Clinical Epigenetics

March 29, 2015

Individual Epigenetic Status paperTakako Jones' paper published online in the journal Clinical Epigenetics. "Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy"

This study led by Takako Jones addressed a long-standing question in the FSHD field; what is the molecular basis for those who are genetically characterized as FSHD1 but clinically remain asymptomatic? The answer is epigenetics. We analyzed the epigenetics of clinical samples taken from cohorts of first-degree relatives that were genetically diagnosed as FSHD1 (thus they have the same size D4Z4 deletion) but varied in their clinical diagnosis. We found that the epigenetic status of the FSHD-associated 4q35 D4Z4 array was significantly more repressive for those clinically asymptomatic than those showing clinical presentation of FSHD symptoms. Interestingly, the epigenetics of the asymptomatic individuals was also significantly different from healthy controls (not genetically FSHD1). Thus, these asymptomatic subjects have an intermediate epigenetic status. Importantly, this also indicates that for therapies targeting the epigenetic dysregulation in FSHD, the epigenetic state does not have to be returned to the healthy epigenetic state found in large arrays for a therapy to be effective, the epigenetics merely need to be shifted a little bit and this non-pathogenic status can be obtained on FSHD1-sized arrays.

Trends in Molecular Medicine review on FSHD model organisms published

March 20, 2015

We collaborated with Dr. Lou Kunkel's group at Harvard Medical School and Children's Hospital Boston to write a review covering FSHD model organisms. "Emerging preclinical animal models for FSHD," by Angela Lek, Fedik Rahimov, Peter L. Jones, and Louis M. Kunkel was published in Trends in Molecular Medicine.

Jones Lab Received Grant from UMass Office of Technology and Commercial Ventures

March 12, 2015

The University of Massachusetts Office of Technologjones lab papery Commercialization and Ventures provided funding for bringing our new FSHD diagnostic test to commercialization. This test is based on the epigenetic status of the 4q35 D4Z4 region and clearly distinguishes FSHD1, FSHD2, and non-FSHD samples. Importantly, this assay can be performed on any source of genomic DNA including saliva samples obtained through the mail. Current genetic testing for FSHD requires fresh blood for pulse-filed gel electrophoresis or molecular combing. In addition to requiring fresh blood, both current techniques are expensive, take a long time (4-8 weeks) for results to be processed, and miss FSHD2 diagnosis. Our epigenetic test is quick (2-3days) and inexpensive; however, the most important thing may be our ability to test saliva making FSHD diagnostics available to underserved communities in the US and to regions all around the world where access to heath care professionals is limited or cost-prohibitive. We look forward to making this new diagnostic technique available to the neuromuscular disease community in the near future.