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Deposits of toxic RNA (red) are seen here inside muscle cell nuclei (blue) from an individual with myotonic dystrophy. Image courtesy of Charles Thornton.

Grant marks two decades of support for myotonic dystrophy research

The Medical Center has received $8 million from the National Institutes of Health (NIH) to support pioneering research on muscular dystrophy. The grant, which is a renewal of URMC’s Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, will fund ongoing work to investigate the genetic mechanisms and progression of this complex multi-system disease. The research has led scientists to the threshold of potential new therapies for myotonic dystrophy.

“This new funding will enable us to continue a research program that has been forged from a true partnership between bench scientists, clinical researchers, and patients and their families,” says Charles Thornton, a professor in the Department of Neurology and director of the Wellstone Center.

The Medical Center, home to one of six NIH-designated Wellstone Centers in the nation, was selected in the first cycle of funding when the program was launched 16 years ago. It is the only Wellstone Center that has been continuously funded since the program’s inception.  With the current award, the Medical Center has received a total of $29.8 million in NIH funding to study the disease since 2003.

Myotonic dystrophy can be lethal in infants and adults and is characterized by progressive disability. Rochester researchers have been studying the disease for more than 30 years and their work has transformed our understanding of its biological mechanisms.  The new funding will support a long-standing collaboration between researchers at the University of Rochester and RNA scientists at the University of Florida.

More than a decade ago, several scientists, including Thornton, uncovered how a genetic flaw – a “stutter” that results in thousands of repetitions of the genetic code on a segment of chromosome 19 – gives rise to the disease. In myotonic dystrophy, this defect results in the creation of an abnormal RNA, which accumulates in the nucleus of cells and interferes with the normal activity of many genes.

The research has advanced to the point where it could lead to a potential new therapy to improve or prevent the symptoms of myotonic dystrophy. Partnering with Ionis Pharmaceuticals, the Rochester team developed a synthetic molecule – called an antisense oligonucleotide – that mimics a segment of the genetic codeIn a study appearing in the journal Nature in 2012, Thornton and his colleagues showed that, when injected into mice with myotonic dystrophy, these molecules improved function.

This treatment has now advanced to testing in people. Read more here.


Research points to chronic pain predictors

Orofacial pain affects the mouth, jaw, face, head, and neck. It can be debilitating and severely affect chewing, swallowing, talking and laughing.

Headaches, toothaches, jaw pain, and burning sensations are just a few examples of how millions suffer from orofacial pain, and for up to 10 percent of these patients the pain is chronic, lasting anywhere from six months to years.

Scientists have long known that exercise can help alleviate pain through exercise induced hypoalgesia, or EIH. Junad Khan, program director for the Orofacial Pain Residency Program at the Eastman Institute for Oral Health, and his team believe that an individual’s capacity for EIH, or their EIH profile, can indicate how efficiently their body modulates pain and ultimately suppresses it.

“Our research has shown that the level of hypoalgesia—the decreased sensitivity to painful stimuli—induced by exercise can help us recognize who is at risk for developing chronic pain following injury or trauma,” says Khan, whose studies have been published recently in Journal of Pain, Journal of Oral & Facial Pain and Headaches, and Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology.

In one study, Khan found that animals displaying the least amount of pain sensitivity after exercise were less likely to develop chronic pain.

“The results suggest that exercise could be a valuable component in helping healthcare providers predict susceptibility to pain, particularly following injury or surgery,” says Khan, who led the study with Eli Eliav, director of Eastman Institute for Oral Health, and a leading scientist in this area. “We are now studying the efficacy of drugs based on EIH profiles and what roles age and gender may play.

Khan and Eliav hope the findings from this study and ongoing research will support the development of individual pain management, including possibly changing one’s pain profile.

Read more here.


Fitness trackers keep cancer survivors on the move

A new study shows that activity trackers such as pedometers and smartphone apps are linked to improved step counts and exercise engagement for cancer survivors. The devices have the appeal of being convenient, home-based, and unsupervised, and they may help with accuracy of exercise logs and in some cases can serve as communications tools for healthcare teams.

Wilmot Cancer Institute investigators reviewed the outcomes of a dozen randomized, controlled clinical trials involving 1,450 cancer survivors who agreed to participate in evaluating the use of the devices for periods ranging from one to six months. Researchers found that adherence rates were sometimes higher than 70 percent and the trackers had a positive impact on general fitness and symptoms such as fatigue. The Wilmot study was published by the Journal of the National Comprehensive Cancer Network.

Rather than being sedentary, time spent taking brisk walks or doing other moderate-to-vigorous activity tends to reduce cardiovascular risk factors, helps people manage their weight, and improves strength, endurance, and heart and lung function. This is important because cancer survivors are often at heightened risk for short- and long-term conditions such as heart disease, hypertension, weakened bones, and diabetes.

The number of ways that digital activity tracking devices can be used to encourage and improve physical fitness is countless,” says senior author Chunkit Fung, associate professor in hematology/oncology. “Truly, almost everyone can benefit from engaging in exercise; the benefit of exercise spans all ages and health conditions.”

The patients who participated in the fitness-tracker trials were treated for a wide range of cancers, including breast and leukemia.

The team suggested that future studies should look at cost-effectiveness and develop ideal exercise prescriptions for reducing cancer-related symptoms and improving quality of life for survivors. By 2022, an estimated 18 million cancer survivors are expected to be alive worldwide. Read more here.


Congratulations to . . .

Three University faculty members who have been appointed to named professorships.

Thu H. Le, a professor of medicine, has been jointly appointed the John J. Kuiper Distinguished Professor and Chief of the Division of Nephrology in the Department of Medicine.

Le’s clinical interests are in hypertension and kidney disease, and her National Institutes of Health-funded research centers on the genetics and mechanisms of hypertension and chronic kidney disease. She is certified in nephrology by the American Board of Internal Medicine.

Le has been published in numerous journals, including Circulation, Journal of Immunology, Journal of the American Society of Nephrology, Nature Communications, and PLoS Genetics.

Paula M. Vertino, a professor of biomedical genetics, has been jointly appointed professor of oncology and the Wilmot Distinguished Professor in Cancer Genomics.

Vertino is an internationally recognized cancer research scientist focused on cancer epigenetics and novel mechanisms of gene silencing in cancer. Vertino has had more than 80 peer-reviewed scientific publications, with her work appearing in journals such as Molecular Cell, Genome Research, and Proceedings of the National Academy of Sciences, USA, among others. Her work has been funded by the National Cancer Institute, the American Cancer Society, and NASA. Vertino is a former member of the editorial board of Cancer Research, and currently serves on the NCI-A panel that oversees the review of NCI-designated cancer centers nationwide.

David N. Herrmann, a professor of neurology, has been jointly appointed the E. Philip and Carole Saunders Professor in Neuromuscular Research.

Herrmann is chief of the Medical Center’s Department of Neurology, Division of Neuromuscular Disorders and director of the Peripheral Neuropathy Clinics and Cutaneous Innervation Laboratory. Clinically, his interests are in the diagnosis and care of patients with various types of peripheral neuropathy. Herrmann established one of the first cutaneous innervation laboratories in the United States for the diagnosis of small fiber neuropathy.

Herrmann is the principal investigator in Rochester for the National Institutes of Health–sponsored Inherited Neuropathy Consortium Rare Disease Clinical Research Center, focusing on new gene identification for inherited neuropathies, development of novel neuropathy outcome measures and biomarkers, and experimental therapeutics. His work has been published in Brain, American Journal of Genetics, Neurology,  Annals of Neurology, and JAMA Neurology, among other publications.

Read more here.


NIH seeks input on supporting diverse research workforce

NIH has issued a request for information (RFI) on plans institutions are developing toward creating research environments that promote and value a culture of inclusion, diversity, equity and mentoring. “These are all key elements needed to ensure research excellence and career advancement for early-career faculty,” NIH says.

NIH seeks input from key extramural community stakeholders, including academic institutional leadership, biomedical faculty, and interested members of the public on strategies to collaborate with institutions.

The goal is to employ a cohort model at the faculty level as a catalyst for institutions to create a route of entry and advancement for talent from diverse backgrounds, including scholars from groups underrepresented in the biomedical research enterprise.

Read more here.


Open Science will be described in symposiums

Early career researchers can learn more about putting Open Science into practice at two symposiums sponsored by the River Campus Libraries and the Graduate Student Association.

  • Open Science in Action: Early Career Researcher Edition – 5:30-7 p.m., March 21, Gamble Room, Rush Rhees LIbrary, or online. Hear directly from early career researchers engaged in practices that make their work more open and transparent. Throughout this symposium up-and-coming scholars will discuss how they are using open tools and workflows to systematically track their research decisions over time, to engage in new kinds of peer review process that are not contingent on study findings, and to offer hands-on training on open science practices in the classroom.
  • Open Science in perspective: Early Career Researcher Edition – 6:30- 8 p.m., March 28, Gamble Room or online. Hear directly from early career researchers engaged in research that sheds light on how the open movement is perceived among students and faculty. Throughout this symposium, up-and-coming scholars will discuss about how to improve the conversation around open initiatives, clarify misconceptions, and inform the ways we teach open practices in the classroom.

Last call for Furth Award nominations

Nominations are due Tuesday, March 19, for the Furth Fund, which provides early career scientists with $12,500 in research funds to help foster the development of promising scientists.

Nominees should be junior, tenure track faculty appointed in natural or biological science departments within ASE, SMD or SON who have been hired within the past three academic years.

Completed nominations should be directed to Adele Coelho at adele.coelho@rochester.edu. Additional information about the Furth Fund may be found here.


Upcoming PhD dissertation defenses

Xia Wu, Warner School, “More than Silence: Chinese International Students’ Academic Socialization Experiences in Speaking Activities in U.S. Higher Education.” 2 p.m. March 25, 2019. LeChase Hall, Room 215. Sponsor: Nancy Ares. Independent Chair: Martin Lynch.

Alison Simpson, nursing health practice, “Physical Activity During Pregnancy: An Examination of Women’s Beliefs, Self-Efficacy, and Intention.” 1 p.m. March 26, 2019. Helen Wood Hall 3W-301. Advisor: Susan Groth.

Nicole O’Dell, Warner School, “Self-Representation and Social Identity in Discussion Threads: The Experiences of Deaf College Students in an Online Learning Community.” Noon, April 1, 2019. LeChase Hall, Room 215. Sponsor: Jayne Lammers. Independent Chair: Karen DeAngelis.

Amy Andrews, Warner School, “Construction Zones: Building Subjective Landscapes Through Dialogical and Discursive Practices in Psychotherapy.”  2:30 p.m. April 1, 2019. LeChase Hall, Room 481. Sponsor: Kathryn Douthit. Independent Chair: Bryan Gopaul.


Mark your calendar

Today: Center for Integrated Research Computing (CIRC) symposium. 11:30 a.m. to 1 p.m. Wegmans 1400. Nancy Chen from the Department of Biology will give a talk on combining evolutionary genomics with long-term demographic and pedigree data to track short-term evolution. Linfeng Song from the Department of Computer Science will discuss using abstract meaning representation for neural machine translation. Lunch will be served.

March 18: Applications due for up to 21 pilot project awards (maximum budget of $50,000 per award) to support novel basic, clinical and translational projects in the neurosciences. Ernest J. Del Monte Institute for Neuroscience. Open to all Medical Center and River Campus faculty. For more information and to download the RFA, click here.

March 19: Nominations due for the Furth Fund, which provides early career scientists with $12,500 in research funds to help foster the development of promising scientists. Nominees should be junior, tenure track faculty appointed in natural or biological science departments within ASE, SMD or SON who have been hired within the past three academic years. Completed nominations should be directed to Adele Coelho at adele.coelho@rochester.edu Additional information about the Furth Fund may be found here.

March 21: Open Science in action: Early Career Researcher Edition symposium. 5:30-7 p.m. Gamble Room, Rush Rhees Library, or online. Hear directly from early career researchers engaged in practices that make their work more open and transparent. Sponsored by River Campus LIbraries and Graduate Student Association. Read more here.

March 21: Jesse L. Rosenberger Works-in-Progress seminar. William Miller, assistant professor of English, presents “The Prophet Muhammad in the Early English Enlightenment” as part of the theme of expertise and evidence. Noon to 2 p.m. Humanities Center Conference Room D at Rush Rhees LIbrary. Lunch provided. RSVP by clicking here.

March 27: Phelps Colloquium Series: Huaxia Rui, associate professor, Simon Business School, Open Voice or Private Message? The Hidden Tug-of-War on Social Media Customer Service, and Maria Marconi, assistant professor of clinical nursing, and specialty director of Health Care Organization and Management Master’s Program and of the master’s program in nursing, Leveraging Generational Diversity in Our Classrooms. 4-5:30 p.m. Location TBD. Register here. Questions? Contact Adele Coelho or call 273-2571.

March 28: Open Science in perspective: Early Career Researcher Edition symposium. 6:30-8 p.m. Gamble Room, Rush Rhees Library, or online. Hear directly from early career researchers engaged in that sheds light on how the open movement is perceived among students and faculty. Sponsored by River Campus LIbraries and Graduate Student Association. Read more here.

March 28: 5 p.m. deadline to apply for pilot projects relevant to the regulation of tobacco products. Available through the Center for Research on Flavored Tobacco at the University of Rochester and Roswell Park Comprehensive Cancer Center. Read the full request for applications. Questions? Contact Deborah Ossip Ph.D. or Scott Steel, Ph.D.

April 1: Strengthening Latino Health: the 2019 Latino Health and Health Disparities Conference (Fortaleciendo La Salud Latina: Conferencia de Salud Latina 2019.) Researchers, practitioners, and advocates share emerging research, best practices, and community perspectives that shape the agenda for Latino health and eliminating disparities. 7:30 a.m. to 3:30 p.m., School of Medicine and Dentistry. View course information and register online.

April 3: Jesse L. Rosenberger Works-in-Progress seminar. Jennifer Kyker, associate professor of music, presents “Sekuru’s Stories: Musical Sound and the Digital Humanities” as part of the theme of expertise and evidence. Noon to 2 p.m. Humanities Center Conference Room D at Rush Rhees LIbrary. Lunch provided. RSVP by clicking here.

April 4: University Technology Showcase, sponsored by Center for Emerging and Innovative Sciences and the Center of Excellence in Data Science. 1 to 5 p.m., Doubletree, 1111 Jefferson Road. Speakers are Julie Gerstenberger, CEO and co-founder of Moondog Labs; Sharon Samjitsingh, co-founder of Health Care Originals; and Michael Molaire, CEO and founder of Molecular Glasses. Poster session. Register at https://ceis.wufoo.com/forms/moa11nv1mhui4d/

April 5: 8th Annual Medical Scientist Research Symposium. Keynote address: “Catch Me if You Can: Resistance to Chimeric Antigen Receptor T cell Therapy” by Marco Ruella, assistant professor of hematology/oncology and scientific director of the Lymphoma Program at the Hospital of the University of Pennsylvania. Noon, Class of ’62 Auditorium. Student poster session 1:30 – 3 p.m. Flaum Atrium. Student oral presentations 3-4:30 p.m., Class of ’62 Auditorium.  For questions or requests, email Cathy Senecal-Rice or call 5-8721. Additional Information

April 17: Jesse L. Rosenberger Works-in-Progress seminar. Anaar Desai-Stephens, assistant professor of ethnomusicology, presents “‘You have to feel to sing!’: Affective Pedagogy, and the Commodification of  ‘Feel’ in (Neo)liberalizing India” as part of the theme of expertise and evidence. Noon to 2 p.m. Humanities Center Conference Room D at Rush Rhees LIbrary. Lunch provided. RSVP by clicking here.

April 22: Deadline to apply for UR-CTSI Community-Based Participatory Research (CBPR) Pipeline-to-Pilot grant of up to $15,000. Read the full request for applications. For questions, contact John Cullen.

May 2: Jesse L. Rosenberger Works-in-Progress seminar. Tracy Stuber and Anastasia Nikolis, Public Humanities graduate fellows, present a public humanities fellowship update. Noon to 2 p.m. Humanities Center Conference Room D at Rush Rhees LIbrary. Lunch provided. RSVP by clicking here.

May 23: Deadline to apply for funding from the Center for Emerging and Innovative Sciences (CEIS) to support projects with NY companies that promote technology transfer to those companies. All proposals must be submitted by email as attachments using the forms on the CEIS web site at http://www.ceis.rochester.edu/funding/CIRP.html. Documentation of company commitment must accompany the proposal. Proposals must be received by Cathy Adams (cathy.adams@rochester.edu, 585-275-3999). Questions may be addressed to her as well.



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Rochester Connections is a weekly e-newsletter all faculty, scientists, post docs and graduate students engaged in research at the University of Rochester. You are receiving this e-newsletter because you are a member of the Rochester community with an interest in research topics.