Margaret Pericak-Vance, Ph.D., director of the Miami Institute for Human Genomics at the Miller School, had a leading role in the research effort that has garnered major media coverage since Sunday when the work was made public in Nature Genetics and The New England Journal of Medicine.

The journals published two separate but related studies that report the most significant MS genetic breakthrough since the 1970s and only the second MS genetic risk factor confirmed through research. Researchers from the UM Miller School, Vanderbilt University, the University of California at San Francisco, Duke University, and the University of Cambridge participated in both studies.

According to the Nature Genetics paper, there is solid genetic and functional evidence that the interleukin 7 receptor (IL7R) alpha chain gene is associated with MS. This specific genetic variation can increase an individual’s risk of getting MS by about 20 percent.

 "This is the first MS-associated gene outside of the major histocompatibility complex that has been confirmed in multiple populations," said Pericak-Vance, co-corresponding author of the study.

These researchers collected 15 years of research, supported by the National Institutes of Health, focused on the analysis of more than 10,000 DNA samples from MS patients and unaffected individuals.

“The genetics of MS has been very difficult to crack," said co-corresponding author Jonathan Haines, Ph.D., director of the Center for Human Genetics Research at Vanderbilt, and senior corresponding author of the NEJM paper that further confirmed this result.

The group used a powerful technique called "genomic convergence" that integrates multiple sources and types of evidence to implicate candidate genes in complex diseases.

“We took a very systematic approach - we looked at multiple lines of evidence that would give us the best chances of successfully identifying a gene that was truly involved in MS susceptibility," said Pericak-Vance.

Pericak-Vance co-led the overall project and oversaw the genotyping effort for this project while working at Duke University.

The MS Group collaborated with scientists in the United Kingdom and Belgium to confirm the IL7R association. No other genes -- of the more than 100 that have been associated with the disease -- have reached consensus.

The International Multiple Sclerosis Genetics Consortium (IMSGC) in the NEJM paper confirmed these findings by using a technique called "whole genome association" that scans the entire human genome for variants associated with MS. This effort also identified a statistical association with the IL7R gene, along with another previously suspected gene, IL2R.

Between 1972 and 1975 researchers found that a variant of the human leukocyte antigen (HLA-DRB1) increases the likelihood of getting the disease up to four-fold.  When combined with IL7R, these two genes increase the risk of getting MS by five-fold, researchers said.

MS is an unpredictable, chronic inflammatory disease of the central nervous system that affects about 350,000 individuals in the United States. It is thought to result from a complex interplay of genetics and environmental triggers. Symptoms include visual problems, muscle weakness, and disability.

The following programs at the University of Miami will be held monthly or bi-monthly: Deep Brain Stimulation Support Group (for pre-op & post-op patients and family), Parkinson’s Disease Support Group Meditation Class (for patients and family) and Parkinson’s Disease Care Givers Support Group.

These are just some of the programs planned for later this summer and fall. For more information and to register for meetings, please call George Dumenigo at 305-243-1865 or e-mail www.gdumenigo@med.miami.edu.

To read the complete update, please visit http://med.miami.edu/hipaa/public/x340.xml. For additional questions related to this or any other HIPAA privacy or security related issues, please contact the Office of HIPAA Privacy & Security at hipaaprivacy@med.miami.edu.

If you register today you will receive $100 off the regular $899 program fee, which includes the class and materials. The normal UM employee discount will still apply after today. All students registered in this course will also have an extra review on Saturday, September 22, and Saturday, September 29. To register, please call Ana at 305-284-0090 ext. 2006.

Please join them the first Tuesday of every month in the Batchelor Children's Research Institute, second-floor conference room, from 9 to 10:30 a.m. For more information, please contact Sheila Findlay at 305-495-8273 or sfindlay@med.miami.edu. The next meeting will be Tuesday, August 7.

The final day to pick up tickets for UM Family Night with the Florida Marlins will be this Friday from 10 a.m. to 2 p.m. in the Quadrangle.

Don't forget to sign up for a chance to throw out a pre-game pitch at Dolphin Stadium the night of the game. One employee from each campus will be chosen to pitch from the mound.

The big event is scheduled for Saturday, August 18, at Dolphin Stadium. A concert and fireworks display will take place immediately following the game. In addition, Billy the Marlin and Marlins Mermaids will be there with special giveaways. The game starts at 7:05 p.m. and the pre-game festivities will kick off at 5 p.m. in the Gate D Helix.

Complimentary tickets are available for faculty and staff only. Each regular employee can receive one free ticket and may purchase three guest tickets for $1 each. If you wish to obtain more than three guest tickets, additional tickets are $6 each. Employees and their first three guests will also receive a complimentary meal voucher for a hot dog, chips and soft drink.

A request for grant applications is issued twice a year, with the remaining application deadline of October 3. Our next draft proposal deadline is September 15. The criteria for pilot projects include originality, feasibility, scientific merit and likelihood that the pilot project can be developed into a larger investigation. Pilot project applicants who have not received R01 or equivalent awards and are new investigators are eligible to apply. For more information on pilot project submission requirements and guidelines visit http://grants2.nih.gov/grants/guide/rfa-files/RFA-CA07-501.html.

For more information and for application procedures, contact Chantell Torregrosa-Macias at 305-243-3981.

Canterbury offers full-time child care for infants through four years of age and voluntary pre-kindergarten. Each program offers a developmentally appropriate curriculum which meets the social, emotional, cognitive and physical needs of the child's age and culture.

The school is open Monday through Friday from 7:30 a.m. to 6 p.m. For more information or to schedule a tour of the school, please call 305-243-3777 for the medical campus or 305-284-5437 for the Coral Gables campus. You can also e-mail Phyllis Bochman at pbochman@miami.edu.

If you would like to schedule an appointment, please call Jeanne Constant at 305-243-5632 or Jennifer Bunyan at 305-243-4002.

For more information please call 305-326-6092.

Lunch will be provided. For additional information or to RSVP, please call 305-243-4466 or e-mail wcastro@med.miami.edu.

The event will be held in the Center on Aging offices in the Mental Health Hospital Center, 1695 NW 9 Avenue, room 3204, from noon to 1:30 p.m. on Wednesday, August 15. Lunch will be provided, but reservations are required. Please RSVP to spurcell@med.miami.edu or call 305-355-9081.

Epidemiological studies have consistently found that women suffer from a higher prevalence of major depression and anxiety disorders than men. As part of the new Science of the Mind Initiative of the Department of Psychiatry and Behavioral Sciences, the goal of this course is to educate physicians and other health care providers and raise public awareness about the evolving field of women's mental health.

Speakers will include Jan-Ake Gustafsson, M.D., Ph.D., of the Karolinska Institute in Stockholm, Sweden. Gustafsson has been chairman of the Nobel Assembly, which awards the Nobel Prize in Physiology or Medicine. He also discovered the estrogen receptor beta and will speak on "Targeting Estrogen Receptor Beta Offers New Pharmaceutical Opportunities-Basic and Applied Aspects."

Tuition is $35 and the deadline to register is Friday, August 10. For more information, please call 305-243-6612 or visit http://www.med.miami.edu/communications/documents/WMH%20Brochure%20SEC0716B.pdf.

The course will be held on the Coral Gables Campus Thursday, August 9, from 10 a.m. to 12 p.m. in the Max Orovitz Building, room 139.

Lunch will be served. To register, please call 305-243-5092 or send an e-mail to saymerich@med.miami.edu.

Robert M. Jackson, M.D. from the Division of Pulmonary and Critical Care Medicine is seeking idiopathic pulmonary fibrosis (IPF) patients for an ongoing Phase II clinical trial of vasodilator therapy (sildenafil). The objectives will be to assess possible therapeutic benefits of a vasodilator, sildenafil, on exercise tolerance and dyspnea in IPF patients and to observe changes in post-exercise markers of oxidant stress. The investigators seek patients with mild to moderate IPF and who have been diagnosed clinically. The study is open to at least ten additional patients. For more information, please contact Robert M. Jackson, M.D. or IPF program coordinator Carol Ramos at 305-575-3548, by e-mail at rjackson2@med.miami.edu. This trial is funded by the Veterans Administration Research Service and is open to non-veterans of both genders. More information can be found at http://clinicaltrials.gov/ct/show/NCT00359736?order=2.

 The Department of Psychology and the Division of Biobehavioral Oncology, Prevention, Epidemiology and Control of the Sylvester Cancer Center are conducting an NIH-funded intervention study to examine the effects of stress management on health and quality of life in women recently diagnosed with breast cancer (stages 0-III). Participants must have recently had surgery for breast cancer, have not yet begun chemotherapy or radiation treatment, and have fluency in English. Eligible women will participate in weekly group sessions over a period of five weeks and be compensated for completing three assessments (questionnaire packet, saliva collection, and blood draw). If you are interested in participating or would like further information about this study, please contact the study coordinator, Janny Rodriguez, at 305-284-2220 or jannyr@miami.edu.

 The Department of Obstetrics and Gynecology is recruiting patients for the following clinical studies:

• Cervical Dysplasia

The Department of Obstetrics and Gynecology is testing experimental medications and therapies for the treatment of cervical dysplasia, a pre-cancerous condition that can lead to cancer if left untreated. Current treatments are surgical or invasive. This study is testing an investigational gene therapy to see if it safely and effectively treats HPV medicated cervical lesions as a result of dysplasia. If you are between 18 and 25 and have had an abnormal PAP test, you may be able to take part in this research study. Qualified participants will receive all study-related care and study therapy. To find out more, call Iliana Rivas at (305) 243-5832 or I.rivas@miami.edu.

• Heavy Menstrual Bleeding

Do you experience heavy menstrual bleeding on two to five days of your regular menstrual period? Does heavy menstrual bleeding keep you from your normal social and work activities? If you answered yes to these questions, you may qualify for a research study of an investigational drug for heavy menstrual bleeding. This investigational drug is not a hormone. You must be a generally healthy woman between ages 18 and 49, have regular menstrual cycles with heavy bleeding, and not have any other bleeding disorder.

Qualified participants will receive the study drug and study-related procedures including physical exams, electrocardiograms, eye exams and laboratory tests at no cost. They will also receive compensation for time and travel. For more information, please contact Marisol Sloane at 305-243-1616.

Jay Skyler, M.D., and Jennifer Marks, M.D., from the Diabetes Research Institute, are currently recruiting patients 18 years of age and older with type 1 diabetes mellitus for participation in research studies to evaluate the safety and effectiveness of inhaled insulin. Patients must be taking multiple insulin injections daily, be non-smokers and in good health. Those who are interested should contact Rogelio Suarez at 305-243-6573 or rsuarez2@med.miami.edu.

Robert Kirsner, M.D., Ph.D., vice chairman of the Department of Dermatology and Cutaneous Surgery, is looking for people with foot ulcers as a complication of diabetes or venous insufficiency. Please contact Carol Kittles at 305-243-8485 for additional information on these studies.

The Department of Psychiatry and Behavioral Sciences is conducting a federally funded HIV behavioral intervention research study for women and their partners, the New Opportunities for Women 2 (NOW 2) Project. The project will address topics related to safer sex, sexual risk reduction, STDs and communication skills. The NOW 2 Project is currently recruiting English-speaking couples, in which one or both individuals must be HIV positive. Participants must be 18 years or older, willing to be tested for STDs, and answer personal questions in a confidential interview. Women and men who participate may each receive compensation of up to $360 for an entire year of participation (this includes attendance at all interviews, examinations and sessions). If interested, please contact Arnetta Phillips or Jackie Gomez, at 305-243-2103, or (aphillips@yahoo.com / jgomez4@med.miami.edu).

Patients with cirrhosis of the liver as a result of hepatitis B 
This is a phase III b protocol comparing entecavir vs. adefovir in chronic hepatitis B subjects with evidence of hepatic decompensation. Subjects must have cirrhosis because of hepatitis B infection, never been treated for hepatitis B or treated with lamivudine (epivir) only, and do not have HIV, hepatitis C or D. For further information please call: 305)-243-6939, or e-mail the study coordinator, Connie Higgins at: chiggins@med.miami.edu.

Do you or does someone you know experience pain related to spinal cord injury? Eva Widerström-Noga, Ph.D., and her colleagues are conducting research into the nature and treatment of pain associated with spinal cord injury. Studies are enrolling now.  Eligible participants will be 18 to 70 years of age and at least two years post-injury.  If you are interested in enrolling, please call The Miami Project to Cure Paralysis at 305-243-8132 for information.

The Department of Psychology is recruiting participants for the following studies:

• A schizophrenia family study 
Have you or one of your relatives been diagnosed with schizophrenia or schizoaffective disorder? Are you in regular contact with this person? If so, you and your family may be eligible to participate in a free family-focused treatment research study. During the treatment, clinicians will provide factual information about schizophrenia and schizoaffective disorder. In addition, techniques to assist the family in coping with mental illness will be presented. Treatment is available in English and Spanish. If interested, please contact the Schizophrenia Family Project at 305-284-5455.

• A family factors and autism study
The aim of this project is to better understand families’ emotional reactions to autism spectrum disorders. We seek the participation of adults with high-functioning autism or Asperger’s and one of his or her parents. Participation will involve one hour-long telephone call. If you would like to help with this study or if you have any questions, please contact Stephanie Wasserman at 305-284-2307.

Researchers at the MRI Center need healthy subjects for a magnetic resonance imaging study. For more information, please visit http://midas.med.miami.edu/Research/MRStudies.htm.

The Department of Psychology and the Division of Cancer Prevention and Control is conducting a quality of life research intervention with advanced prostate cancer patients. Participants should have Stage III or IV prostate cancer and have recently or currently been treated with hormone therapy. Eligible participants will take part in a ten-week cognitive behavioral stress and affect management program or a health promotions program. Three psychosocial/medical assessments are also required. If you are interested in this study or would like more information, please contact Frank Penedo, Ph.D., at 305-243-3329, or fpenedo@miami.edu.

Daniel Santisteban, Ph.D., of the Center for Family Studies in the Department of Psychiatry and Behavioral Sciences, is currently conducting a research program that would provide adolescents and/or their family treatment for free. Participants must be 14 to 17 years old, have a parent or legal guardian willing to participate, meet DSM criteria for both substance abuse disorder and borderline personality disorder, and be willing to participate in four separate but paid evaluations. If interested, please contact Maite Mena, Psy., at 305-243-3658, or mmena@med.miami.edu for details. 

Pulmonary and Critical Care Medicine is seeking patients with idiopathic pulmonary fibrosis (IPF) for phase III protocol that will assess the impact of pirfenidone on IPF. Subjects must be between 40 and 80, and have a confirmed diagnosis of IPF within 48 months of randomization. For more information please call: 305-243-3728, or e-mail Emmanuelle Simonet at esimonet@med.miami.edu.

The Center for Research and Education on Aging and Technology Enhancement is conducting research with family caregivers of dementia patients who speak English and are 50 years of age or older. If you are not a caregiver but are interested in participating, you may be able to help as well. Participants will receive basic training on how to use the Internet and will be asked to look for information about care-giving and dementia. If you are interested in being a part of this research study, please call 305-355-9200. You will be paid for your time and effort.

Jennifer B. Marks, M.D., is currently recruiting patients ages 18 through 40 with type 1 diabetes mellitus with a recent diagnosis for participation in a research study to test the safety and effectiveness of an investigational medication. Patients must be taking multiple insulin injections daily and in good health. Those who are interested should contact Rogelio Suarez at 305-243-6573 or rsuarez2@med.miami.edu.

The AIDS Clinical Research Unit, directed by Margaret Fischl, M.D., is recruiting participants for the following studies:

• An investigational polyclonal caprine IgG, HRG214, for HIV patients not responding to antiretroviral therapy. HRG214 contains antibodies that targets HIV infected CD4 cells and specific regions on HIV. Laboratory/animal studies suggest these antibodies are capable of killing or disabling HIV and preventing further infection.  Participants must have HIV RNA < 5000 copies/ml and CD4 cells < 200 cells/cmm. The study will evaluate 3 increasing dose of HRG214 in part I and compare HRG214 to optimized antiretroviral therapy in part II. HFG214 is given IV over about 30 minutes three times a week for up to 26 weeks. $100 provided each completed week of HRG214 treatment and $25 each completed week of observation

 • A phase II study of investigation use of recombination human keratinocyte growth factor (rHuKGF, palifermin) for patients with incomplete immune recovery on HAART.  rHuKGF may enhance thymus production of lymphocytes and increase CD4 cell counts. Participants must be 18 years and older, receiving antiretroviral therapy for at least 6 months with HIV RNA <200 and CD4 cell count <200 cells.  The study will evaluate 3 doses (20, 40 60 mcg/kg) of rHuKGF compared to placebo.  rHuKGF given IV bolus daily for 3 days. Follow up study visits at weeks 1,2,4,8 12 and 24 with thymus CT scans at entry and week 12.

 • A phase II of an investigational glycosylated recombinant human IL-7 (CYT017, a cytokine that aids T-cell development and improves T-cell survival). Participants must be 18 years of age, receiving HAART for at least 12 months and have an HIV-1 RNA level < 1,000 copies/ml and CD4 cell count of 101– 400 cells/ccm. The study will evaluate three increasing doses (10, 20, 30 Fg/kg) of IL-7 given by SQ injection once a week for 3 weeks. Up to $275 in food certificates provided.

For more information on studies conducted by the AIDS Clinical Research Unit, contact Juan at 305-243-3838 or Leslie at L.Thompson@miami.edu.

The SPARE Study (Soy Phytoestrogens As Replacement Estrogen) is currently recruiting women 45 to 60 years of age to study the role of soy phytoestrogens given in tablet form to prevent bone loss. Participants will be given a physical exam at study entry, an annual mammogram and bone density test, and will be asked to come for 10 study visits over a period of two years for blood tests and to complete questionnaires about diet, exercise, and well-being. Interested women should contact the SPARE Study Office at 305-243-4330 or via e-mail at aherrin@med.miami.edu.

Bruce Rubin, M.D., is currently performing a study on trigeminal neuralgia (TN) treatment with subcutaneous injections of BOTOX® to evaluate the effectiveness of treating facial pain associated with TN. Patients must have a diagnosis of TN for more than three months and be at least 18 years of age.
 
Dr. Rubin is also seeking patients for a research study on the treatment of tightness/spasticity in the wrist, fingers, and elbow caused by a stroke while evaluating the effect of BOTOX® on pulmonary functioning. Patients must be 18 years of age, have had a stroke six months ago or longer, have a pulmonary/breathing problem and cannot have used BOTOX® or any other botulinum toxin previously for any condition. Please contact Amy L. Kaye, ARNP, at 305-243-6223 for additional information on either of these studies.