Genomic Medicine Institute News: 2007

December 20, 2007
Genetic alterations in the benign-appearing stromal cells surrounding breast cancers predict for nodal metastases
The cells surrounding breast cancers, called stroma, are benign appearing, "normal" by all accounts. For the past few decades, scientific dogma is that genetic alterations occur in the breast cancers themselves. In a paradigm-shifting work published in the Dec. 20, 2007 issue of the New England Journal of Medicine, Charis Eng, MD, PhD and colleagues demonstrate that the normal-appearing stromal cells are not quite so innocent, and in fact, sereptitiously harbor "smart bombs". The authors found that somatic mutations of TP53 (often referred to as the master molecule) in the stroma correlate with regional lymph node metastases (spread of cancer to the lymph glands). They also found that genetic alterations in 5 specific chromosomal spots, even in the absence of TP53 mutations, also correlate with regional lymph node metastases. If this study can be replicated in larger trials, then these observations suggest novel biomarkers that can predict for poor clinical outcome, and opens up a new compartment, the stroma, to target new therapies.

December 03, 2007
lincolnLincoln had cancer, doctor theorizes
Although he is often thought to have had Marfan's syndrome, there is evidence to suggest that Abraham Lincoln suffered with a rare genetic syndrome known as MEN 2B. The syndrome also causes cancer in organs, like the thyroid, that produce hormones. It is possible Lincoln was dying of cancer when he was shot in 1865. Read more in this recent article featuring Charis Eng, MD, PhD in the Chicago Tribune.

November 12, 2007
Charis Eng, MD, PhD was recently elected to the 2007-2008 Best Doctors in America database for her work in Clinical Cancer Genetics and Cancer Genomic Medicine. This honor is a result of feedback from peers who recognize her as one of the top clinicians in this geographic region. Best Doctors Inc. is the trusted resource to patients and physicians in delivering the right diagnosis and the right treatment. The Company serves employers, health plans and financial institutions by dramatically improving the quality of healthcare at the point of treatment for individuals with complex and serious illnesses.

October 05, 2007
GMI hosts joint chapters of the World Presidents' Organization (WPO)

GMI recently offered an insider's view of genomic medicine to the joint Calgary/Cleveland chapters of WPO. In keeping with our tripartite mission of clinical care, research and education, GMI employees offered short clinical sessions and shared the scientific aspects of genetic/genomic research with distinguished members of the business community from Cleveland, Ohio and Calgary, Alberta, Canada. The well-received event included a panel discussion on genomic medicine, discussions with clinical and research personnel and tours of lab and clinical space in the NE building.

October 03, 2007
Charis Eng, MD, PhD presented one of the Top 10 Innovations for 2008 at the
annual Cleveland Clinic Innovations Summit held Oct 1-3, 2007
. Her presentation, Genomics-Based Personalized Healthcare, was number four of ten and explored how family history and genomic information can be used to develop personalized risk assessments and disease management plans for all diseases in the near future. Innovations were selected as technologies which will likely have a big impact on healthcare in 2008. Each year, the top 10 innovations are selected by a third party based on interviews with over 40 thought leaders at the Cleveland Clinic and then ranked. Usually, 100 innovations, whether technologies or concepts, are considered and the top 40 selected for further discussion by a committee comprised of staff from the Cleveland Clinic. You may download Dr. Eng's presentation here.

Sept 27, 2007
New England Journal of Medicine - Genetics Detective Work Confirms MEN 2-related Pheochromocytoma
In a fascinating medico-historical reconstruction published in the September 27th issue of the New England Journal of Medicine, Charis Eng, M.D., Ph.D., Chair, Genomic Medicine Institute, and collaborators tracked down the original autopsy report of a German woman diagnosed more than 120 years ago, who had the first described case of what is now known as pheochromocytoma. Using current molecular technology along with information from interviews with the patient's living relatives, the authors found that the specific inherited condition causing her death was "multiple endocrine neoplasia type 2" (MEN-2). They write: "The proband had two clinical 'red flags' that pointed to an inherited condition: her young age at diagnosis and bilateral disease in paired organs. The differential diagnosis comprises von Hippel-Lindau disease, MEN-2, and the pheochromocytoma-paraganglioma syndrome types 1 and 4. . To our surprise, the family-lineage tracing and pedigree construction revealed not only that
four descendants had medullary thyroid carcinoma but also that four living affected family members had the germ-line Cys634Trp mutation in the RET gene, thus establishing the clinical and molecular diagnosis of MEN-2."
[See Neumann HP, et al.Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A,
Bausch B, Januszewicz A, Eng C. Evidence of MEN-2 in the original
description of classic pheochromocytoma. NEJM 2007;357:1311-1315.]
News of this noteworthy publication was posted in the Cleveland Plain Dealer.

September 25, 2007
Angela Ting named Future Leader
At the 2007 Annual Meeting, the Associate Member Council (AMC) sponsored the first special symposium to highlight the work of outstanding early-career scientists. This symposium was initiated at the request of Dr. Geoffrey M. Wahl and Dr. Margaret Foti, who have been strong supporters of the efforts of early-career scientists, and who wanted a forum in which outstanding researchers-in-training would be recognized. The selection process was rigorous and nominations were solicited from cancer center directors worldwide. Six speakers were ultimately selected to represent the next generation of cancer researchers, including GMI's very own Angela Ting for her work on RNA-mediated epigenetic silencing in human cancers.

Sept 6, 2007
Distinguished Lecture Series
Charis Eng, MD, PhD delivered the Distinguished Lecture at Fox Chase Cancer Center, Phildelphia entitled, "Genetics of PTEN: a patient-oriented class AKT"

July 12 , 2007
Donation Kicks Off Joint GMI and Cancer Biology Fundraising Initiative
Kai Johnson wanted to make a difference with the gift money she received on her 12thkai birthday. Due to the recent passing of her grandmother from ovarian cancer, Kai searched the internet to see what she personally could do for cancer research. She connected with the Cancer Biology Department at the Lerner Research Institute and presented Dr. Janet Houghton with a check for $235. This kicks off the joint Genomic Medicine Institute & Cancer Biology fundraising initiative to support basic and translational research in the two departments. If you wish to be part of this exciting effort please contact LRI's Development Officer, Alicia Hoose. Read more at

May 07, 2007
Hui Zhu
, of the Eng lab, was featured in Today's Plain Dealer Newspaper in an article highlighting her interest in alternative splicing, a molecular process that allows a single gene to produce many different proteins.

May 01, 2007
Dr Micheala Aldred and Mrs Christina Rigelsky spoke at the Cleveland Area Pulmonary Hypertension Support Group meeting at Twinsburg Public Library on May 6, 2007. The title of the presentation was, "Genetics and PH ~ What's the Connection?"

April 27, 2007
Dr Charis Eng was Visiting Professor at the Institute of Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia and delivered the Visiting Professor's Seminar entitled, "PTEN in heritable and sporadic neoplasia: AKT-ing on location."

April 20, 2007
mens health

The Cleveland Clinic's 5th Annual Minority Men's Health Fair returned to campus on Thursday, April 19th. This year, The Genomic Medicine Institute introduced the concept of wellness through genetics. By offering family tree drawing, basic genetic education and dialogue, GMI participants were able to share the good news about early prevention and proactive health care. Dawn Caraballo, Research Program Coordinator at GMI said, "Visitors at our booth were especially amazed at how disease patterns stand out when represented graphically, such as in the pedigree drawing." During the evening, educational health talks were conducted on topics such as hypertension, prostate health, erectile dysfunction, nutrition and wellness.

March 12, 2007
collins Charis Eng welcomes special guest Francis S. Collins, M.D., Ph.D., Director, National Human Genome Research Institute, National Institutes of Health. With Dr. Collins at the helm, the Human Genome Project culminated in April 2003 with the completion of a finished sequence of the human genetic blueprint. Building on the foundation laid by the Human Genome Project, Dr. Collins is now leading NHGRI’s effort to ensure that this new trove of sequence data is translated into powerful tools and thoughtful strategies to advance biological knowledge and improve human health. Dr Collins spoke of the impact of personalized genetic healthcare on modern society.

February 03 , 2007
Charis Eng and Cheryl Scacheri represented the Genomic Medicine Institute on Dr. Mike Roizen's radio show, YOU: The Owner's Manual. Discussions included genetic counseling, making health decisions based on family history and the health benefits of consuming moderate amounts of red wine.