Most of the emphasis on myotonic dystrophy has been on DM1 or Myotonic Dystrophy Type 1 Now a new generous gift will push the reseach front on DM2! A great day!
Gift Will Advance Research on Myotonic Dystrophy Type 2
September 09, 2014
A $1.25 million gift from Lilyan (Lil) and Albert (Alfy) Nathan of Florida and Michael and Sherry Goldberg of Chicago will create a new center dedicated to research on myotonic dystrophy type 2 (DM2) at the University of Rochester School of Medicine and Dentistry. The gift will be used to support a new research program that will be led by UR Medicine neurologist Chad Heatwole, M.D.
“We are deeply grateful to the Nathan and Goldberg families for their extreme generosity,” said Robert Holloway, M.D., M.P.H., the chair of Department of Neurology and the Edward A. and Alma Vollertsen Rykenboer Chair in Neurophysiology. “Due to the efforts of Chad Heatwole, Richard Moxley, Charles Thornton, and many others here in Rochester, we believe that new therapies for this disease are on the horizon. This gift will help accelerate these efforts.”
Myotonic dystrophy has been characterized as one of the most diverse genetic diseases with a wide range of symptoms ranging from fatigue, muscle stiffness, muscle weakness, cognitive impairment, depression, difficulty sleeping, impaired vision, pain, difficulty swallowing, and gastrointestinal problems. The severity and onset of these symptoms vary from patient to patient.
Although DM2 shares many similar clinical features with the more common myotonic dystrophy type 1 (DM1), the muscle problems more frequently begin in the hips and shoulders. DM2 is under recognized and often misdiagnosed. It can be difficult to differentiate from DM1 and many clinicians, and neurologists, are not familiar with the disease.
The generic symptoms that patients tend to report – muscle aches and weakness – often result in the disease being mistaken for a pain disorder such as fibromyalgia, leading the patient and their physicians on a long and frustrating diagnostic odyssey. Despite troubling symptoms, patients often remain undiagnosed for years or even decades.
This was the experience of Michael Goldberg’s son, who suffered for many years from the disease before a diagnosis was finally made. Even after it was determined that Nathan had DM2, the family struggled to find neurologists that specialized in treating the disease. They were even more discouraged to discover that very little research funding was being dedicated to find new therapies.
On a trip to Israel, a researcher at the Hadassah Medical Center in Jerusalem told Goldberg that research on DM2 was being done at the University of Rochester and, in his opinion, the physicians and scientists in Rochester were leaders in the field. Shortly thereafter, Michael and his son came to Rochester and met with Heatwole.
“Dr. Heatwole gave us the first glimmer of hope that someone was actually interested in helping people with this disease,” said Michael Goldberg, founder partner of the Chicago firm Goldberg Weisman Cairo. “While our family had never made a major donation to a charity or medical institution before, we believed in Dr. Heatwole, the University of Rochester, and in the importance of helping find a cure for DM2 for our son and for the untold number of other people afflicted with this disease.”
Funds from the Goldberg Nathan Myotonic Dystrophy Type 2 Endowment will be dedicated to finding new therapies for the disease and will enable Heatwole and other researchers at the University of Rochester to dedicate more of their time to studying DM2. Specifically, it will allow them to develop a more precise understanding of the disease – how it progresses, what factors impact the disease, what symptoms are important to patients, and what are the most suitable clinical trial outcome measures – and create the infrastructure necessary to entice pharmaceutical companies to invest in new experimental treatments. The researchers also plan to begin studying cells samples of individuals with the condition as a necessary step to evaluate if promising genetic therapeutic strategies in DM1 can also be utilized to help patients with DM2.
In addition to the money given by Sherry and Michael Goldberg, and by Sherry’s parents, Lil and Alfy Nathan, the family has also raised helped raise funds for DM2 research at the University of Rochester from friends and family. Alfy Nathan recently passed away and the family suggested that donations be made on his behalf to the University and the Goldberg Nathan Myotonic Dystrophy Type 2 Endowment.
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