WNY Genome Project and What It Means to You

Imagine being able to examine your genetic makeup to determine if you are likely to develop a disease. Imagine being able to receive treatment and medication designed specifically for you in the most effective dose.

One of the most important aspects of modern medicine is genetics, or the science of genes and heredity and what makes us different from one another. The genetic makeup (genome) for one individual is the entirety of that person’s hereditary information.  Now imagine the ability to compile and analyze the genome of an entire community to examine the predispositions of its members to common diseases like cancer, diabetes, heart disease, multiple sclerosis, lupus or hypertension (high blood pressure).

In December Roswell Park Cancer Institute (RPCI) was granted $5.1 million by Governor Cuomo to lead a project that will do just that, and Donald L. Trump, MD, RPCI President and CEO, is thrilled. He predicts, “The RPCI Genome Project will significantly enhance our ability to develop personalized, more effective medical care plans and treatments for citizens of Western New York and beyond, but it is just a beginning.” 

Dr. Trump explains, “The project will begin with cancer, where we already have experience and infrastructure, including a large database of individuals. One goal is to individualize and personalize treatments. For example, anticoagulant drugs may be dosed differently based on how each individual metabolizes the drug. Another is tamoxifen, a well-documented drug for breast cancer prevention. We need to determine which patients are most likely to benefit from specific drugs and determine appropriate individualized dosages to minimize side effects. Ultimately, the goal is to expand our capability well past cancer and develop effective and customized treatments for all individuals.”

With this pilot funding, 1,000 area residents will be asked to donate a blood sample and provide detailed medical information. Patients’ privacy will be fully protected and their data will not be shared with insurance companies or serve as a basis for denying coverage based on their predisposition to a disease. In fact, only the health care provider and the individual themselves will have access to the information.

So what else is so exciting about the project? Dr. Trump says, “It will mean many jobs for Western New Yorkers, significantly boosting our economy.” Meanwhile, recruitment for a Project leader is underway, and people with cancer expertise, data collection and analysis will also be needed. Dr. Trump adds, “We also know that it will attract more money to our region, as happened with the genome project in Tampa, Florida at the H. Lee Moffitt Cancer Center, where the Merck Pharmaceutical company invested $100 million in a similar endeavor.”

So why was Western New York selected? Dr. Trump says it’s because of our region’s cutting-edge science and technology, broad partnerships with many constituents, and the potential for job growth and economically rewarding partnerships.

Dr. Trump and Deputy Director Candace Johnson, PhD, will lead the RPCI Genome Project as Co-Principal Investigators. Partners include the University at Buffalo, Kaleida Health, the Catholic Health System, Erie County Medical Center, HealthNow/BlueCross BlueShield, Independent Health, Univera Healthcare, The P2 Collaborative and HEALTHeLINK. For more information visit roswellpark.org, call 1-877-ASK-RPCI or send an email inquiry to askrpci@roswellpark.org.

Potential Risk Factors for Painful Jaw Disorders are Identified In the First Large-Scale Clinical Study of Pain

-- UB study finds that people who develop jaw pain disorders exhibit specific characteristics, including more trauma to the jaw, more limitations and noises in the jaw, more headaches
medical status.

-- The findings are being published by UB School of Dental Medicine researchers who are international authorities on aspects of jaw pain disorders and who have developed through international collaborations many of the most commonly used diagnostic tools

Millions of Americans are affected by painful jaw problems known as TMD, temporomandibular disorders, but predicting who is at risk has been extremely difficult.

Now, for the first time, researchers in the University at Buffalo School of Dental Medicine are publishing a comprehensive set of clinical characteristics that they say will lead to the ability to identify individuals at risk for developing the painful conditions.

Their new clinical assessments will help researchers and clinicians better understand TMD and other pain conditions, so as to find ways to better manage and treat them.

Published in the November issue of the Journal of Pain, the UB research results are part of the Orofacial Pain Prospective Evaluation and Risk Assessment (OPPERA) study, available at
http://www.jpain.org/issues?issue_key=S1526-5900(11)X0013-5
(http://www.jpain.org/issues?issue_key=S1526-5900(11)X0013-5), which followed 3,200 initially pain-free individuals for three to five years.

It is the largest clinical study of pain conditions and how they develop that has ever been done.

The UB researchers, led by Richard Ohrbach, DDS, PhD, associate professor of oral diagnostic sciences in the UB School of Dental Medicine, have been studying pain and TMD for several decades. Ohrbach
is the lead author on the paper.

"The UB role in the project was to develop well-designed examination procedures to help dentists and other health care providers identify risk factors for TMD," says Ohrbach.

Ohrbach and his co-authors studied 71 different clinical variables in 1,633 controls -- individuals who never had TMD -- and in 185 people with chronic painful TMD.

They assessed the individuals through lengthy questionnaires about health histories and current symptoms and through clinical exams. Participants were from Western New York, Maryland, North Carolina and Florida.

The UB researchers found that a very high rate of the variables they assessed, 59 out of 71, were significantly associated with painful TMD.

"Our results indicate that individuals with TMD differ substantially from the controls across almost all of the variables we assessed," says Ohrbach.

TMD sufferers tended to have significantly higher levels of the following variables: trauma to the jaw, non-pain symptoms in the facial area, jaw locking and noises, and pain during such jaw movements as
chewing, smiling or talking. Ohrbach notes that while the last two findings were clearly expected, very little has been known about the first two findings.

In particular, the UB researchers found that TMD sufferers reported a much higher rate of neural and sensory medical conditions, such as earaches, tinnitus or hearing loss, fainting and dizziness, as well as
seizures due to epilepsy and other conditions.

Ohrbach said that the study also confirmed many findings that long have been associated with TMD but which have not, until now, been proven in a comprehensive, large-scale study.

Among these is the finding that any pain disorder, such as headache, backache and abdominal pain, is more likely to occur in TMD patients than in people who do not have TMD.

"Why are other pain disorders more common in people with TMD?" asks Ohrbach. "Is it because those pain conditions predispose them to develop TMD or do they develop TMD first and does TMD lead them to then develop other pain disorders?"

To answer these and other related questions, Ohrbach says he and his colleagues will next look at comorbidity.

"We'll be tracking these multiple pain disorders over time with particular variables," he says.

Ultimately, the findings of the UB researchers and their colleagues on the OPPERA study will be geared toward a better understanding of pain conditions in general.

"How do we understand the pain? How do we establish a reliable and clinically useful marker of pain so that significant pain can be more readily diagnosed?" asks Ohrbach. "To answer these questions, we need to have a model that puts all of the pieces together, that takes the findings from a clinical exam, puts it into a rigorous framework using the right assessment and diagnosis tools in order to chart the nature
of multiple physical disorders so that we can ultimately understand how the pain is affecting the individual."

The OPPERA study was funded by the National Institute of Dental and Craniofacial Research.

Co-authors with Ohrbach on the paper are: Yoly Gonzalez of the UB Department of Oral Diagnostic Sciences; Roger B. Fillingim, University of Florida, College of Dentistry, North Florida/South Georgia Veterans Health System; Sharon Gordon, Department of Oral-Maxillofacial Surgery and Brotman Facial Pain Center, University of Maryland-Baltimore, Dental School; Henry Gremillion, Louisiana State University Health Sciences Center School of Dentistry; Margarete Ribeiro-Dasilva, Department of Community Dentistry and Behavioral Science, University of Florida, College of Dentistry; Joel D. Greenspan, Department of Neural and Pain Sciences, and Brotman Facial Pain Center; Charles Knott,
Battelle Memorial Institute; and Pei-Feng Lim, William Maixner, Flora Mulkey and Gary Slade, all of the University of North Carolina-Chapel Hill.

The University at Buffalo is a premier research-intensive public university, a flagship institution in the State University of New York system and its largest and most comprehensive campus. UB's more than
28,000 students pursue their academic interests through more than 300 undergraduate, graduate and professional degree programs. Founded in 1846, the University at Buffalo is a member of the Association of American Universities.

Related story: "UB to Study Causes of Facial, Jaw Pain,"
http://www.buffalo.edu/news/7724 (http://www.buffalo.edu/news/7724)

See this article online at: http://www.buffalo.edu/news/13021