Genomic Medicine Institute News: 2010

news Click here to download the current issue of Translations, the newsletter of the Genomic Medicine Institute. In this issue you will find:
  • IN THE CLINIC: Family History, tried and true
  • UNDER THE SCOPE: Angela Ting, PhD studies changes in DNA methylation that may account for differences in the aggressiveness of prostate cancer
  • GENETICS EDUCATION A new ODH grant will support the CPGH’s designated “Regional Comprehensive Genetic Center”

 

December 23rd, 2010

Charis Eng, MD, PhD, Hardis Chair and founding Director of the Genomic Medicine Institute (GMI) of the Cleveland Clinic, founding Director of GMI's Center for Personalized Genetic Healthcare, and Professor and Vice Chair of the Department of Genetics at Case Western Reserve University School of Medicine leads groundbreaking work which helps the medical profession better understand the workings of a rarely recognized disease. She's also providing an explanation of how genetic testing can be used to deliver individualized preventive medicine. Read more in The Cleveland Plain Dealer

 

December 22/29, 2010

Dr. Eng uncovers new gene and new mechanism leading to cancer predisposition
A preliminary breakthrough genetic discovery published in the December 22/29, 2010 issue of the Journal of the American Medical Association (JAMA) may well increase the ability to diagnose and manage patients with an elusive but important cancer-predisposing syndrome called Cowden syndrome (CS) or Cowden-like syndrome (CLS). The research led by Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute and Director of its Center for Personalized Genetic Healthcare, have particularly significant implications for breast and kidney cancer risk assessment. Coauthors of this paper are Kristi L. Bennett, PhD and Jessica Mester, MS, CGC, both of the Genomic Medicine Institute.

It has been known for quite some time that genetic mutations in the PTEN tumor suppressor gene associate with a number of different diseases; in fact, 80% of patients with CS and 5% with CLS get the disease due to mutant PTEN.

Through probing the reason for CS and CLS in patients without mutated PTEN, Dr. Eng's group has revealed that a dysfunctional KILLIN tumor suppressor gene might have even more informative consequences.

This study shows that CS/CLS individuals with KILLIN promoter methylation, which switches the KILLIN gene off, have a 3-fold greater risk of breast cancer, and a 2-fold greater risk of kidney cancer, compared to those with mutant PTEN. As such, being able to identify these individuals is hoped to promote best practices in their personalized healthcare management, such as more careful screening of breast and kidneys.

November 23rd, 2010

Why is family health history important?
In honor of Thanksgiving, November is family health history month. What better time to discuss family health history than around the Thanksgiving table? Speaking to anchor Dick Russ of WKYC, Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute and Director of the Center for Personalized Genetic Healthcare, explain the importance of family health histories in uncovering genetic causes of disease risk. Family health information is knowledge for power – knowing one’s family medical history is important for staying well. Read more at WKYC.com.

 

November 17th, 2010

Aldred research recognized by American Journal of Respiratory and Critical Care Medicine
Research by Micheala Aldred, PhD, with co-authors Serpil Erzurum, MD, Suzy Comhair, PhD, Kewal Asosingh, PhD, Weiling Xu, PhD, and others, is now in print in the November issue of the American Journal of Respiratory and Critical Care Medicine.  Although mutations in BMPR2 are known to confer risk of pulmonary arterial hypertension (PAH), a mutation in this gene alone confers low penetrance of the disease, indicating other factors predispose for PAH.  Dr. Aldred’s group found that over half of the PAH lungs studied using genome-wide copy number analysis of SNPs from pulmonary artery endothelial and smooth muscle cells had somatic chromosomal abnormalities in the endothelial cells, indicating that chromosomal abnormalities may be more widespread than germline mutations linked to PAH.  The findings provide the first evidence that somatic mutations may add to the risk of PAH as a “second hit” for an individual with a germline BMPR2 mutation.  This innovative study poses important questions for additional research to identify the stage of PAH when the acquired genomic rearrangements occur.

November 10th, 2010

What exactly is genetic testing? What do you do if you know you carry the gene associated with breast cancer? Dr. Rocio Moran, a geneticist at the Center for Personalized Genetic Healthcare answers these questions and more for ShareWIK.com.

 

November 5th, 2010
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Charis Eng, MD, PhD, presented findings at American Society of Human Genetics 60th Annual Meeting, that provide new insight on patient and physician understanding and use of family health history to assess disease risk . Read more in the Cleveland Plain Dealer article

 

October 11th , 2010

Dr. Eng elected to the Institute of Medicine of the National Academies
On October 11th, Charis Eng, MD, PhD, Hardis Chair and founding Director of the Genomic Medicine Institute (GMI) of the Cleveland Clinic, founding Director of GMI's Center for Personalized Genetic Healthcare, and Professor and Vice Chair of the Department of Genetics at Case Western Reserve University School of Medicine, was named as one of 65 new members elected to the Institute of Medicine (IOM) in 2010. This elite honor distinguishes those having made unparalleled contributions to health and biomedical science.

As the health arm of the National Academy of Sciences, the IOM functions as an authoritative body advising both decision makers and the public, with the underlying mission of improving human health. Members drawn from the highest levels of expertise in the country are selected to address the foremost healthcare issues and concerns facing the nation's health.

Dr. Eng's seminal contributions in the area of clinical cancer genetics translational research – exemplified in part by her approach to RET testing and characterization of PTEN mutations, as well as her proactive involvement at the national level in guiding and advising on human genetics- and genomics-informed personalized healthcare – make her IOM membership a fitting distinction of professional achievement and commitment to service.

Dr. Eng continues to build upon an illustrious career marked by over 320 peer-reviewed original papers in such journals as the New England Journal of Medicine, JAMA, Lancet, Nature Genetics, Nature, Cell, and Molecular Cell. She has completed a 3-year term on the Board of Directors of the American Society of Human Genetics, as well as a 2-year term as Chair of the Clinical Science Committee of the Personalized Medicine Coalition, and is currently serving a five-year term on the Board of Scientific Directors of the NIH’s National Human Genome Research Institute.

Last year, Dr. Eng was appointed by Kathleen Sebelius to the U.S. Department of Health and Human Services' Secretary's Advisory Committee on Genetics, Health and Society (SACGHS), where she co-chairs their Task Force to examine whole genome sequencing for clinical application.

In addition to her numerous scientific and clinical achievements, Dr. Eng is also regarded for establishing a one-of-a-kind, state-of-the-art education program for training the next generation of clinical cancer geneticists, indicating her unmatched leadership in this emerging era of healthcare.

Within the IOM, Dr. Eng joins George Stark, PhD, as the Cleveland Clinic representatives in this national advisory capacity.


 

trans

Click here to download the current issue of Translations, the newsletter of the Genomic Medicine Institute. In this issue you will find:

  • IN THE CLINIC: web launch+genetic testing
  • UNDER THE SCOPE: Genetic studies of
    Pulmonary Arterial Hypertension
  • NEW: High-throughput Sequencing Services in the Genomics Core

 

July 8-9, 2010

Dr. Eng participates in NCI Think Tank
Charis Eng, MD, PhD, Chair of the Genomic Medicine Institute, participates in a by-invitation NCI Workshop on Returning Research Results from Biospecimen Resource-derived patient-oriented research. She also chaired one of the three break-out sessions focusing on returning aggregate research results. The consensus statement will be presented in a guiding white paper by the two NCI-based co-conveners of the Workshop, Dr. Rihab Yassin and Dr. Nichole Lockhart

June 15-16, 2010

Dr. Eng Co-Chairs Exploratory Workshop at the DHHS Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS)
Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute, and Paul Billings, MD, PhD, SACGHS members, co-chair an Exploratory Workshop on Whole Genome Sequencing for Clinical Application at the June meeting of SACGHS. After the half-day workshop (June 15, afternoon sessions http://oba.od.nih.gov/SACGHS/sacghs_past_meeting_2010_june.html) and discussion amongst its members, SACGHS formed a Task Force to study Whole Genome Sequencing for Clinical Application. Drs. Eng and Billings are Co-Chairs of this Task Force.

May 25, 2010

Drs. Eng and Tom Frazier participate in Cleveland Walks for Autism Speaks
Charis Eng, MD, PhD, Chair of the Genomic Medicine Institute and Tom Frazier, PhD, Director of Autism Research, Staff, Pediatrics Institute and Secondary Staff, GMI participate in Cleveland Walks for Autism Speaks. Dr. Eng gave a talk “PTEN – how a cancer gene helps autism research” to 600 people at the kick-off dinner which marks the beginning of the annual Cleveland Walks for Autism Speaks.

April 13, 2010

Dr. Eng speaks at the Cleveland Skating Club to benefit Scott Hamilton CARES at the Taussig Cancer Institute
Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute, was funded by the Scott Hamilton CARES pilot grants initiatives hosted by the Taussig Cancer Institute and as a result of the data obtained from this pilot research, was an R01 from the National Cancer Institute. At the Skating Club event, Dr. Eng described the CARES-funded research, “PTEN – A smart gene that AKTs against cancer: Of mice and men” and its implications for patient care

March 29 , 2010

GMI Educates Employees about Wellness
The Genomic Medicine Institute, in collaboration with the Wellness Institute, hosted Genomics Week at the 360- 5 Wellness Store in March. Megan Doerr, MS, Jessica Mester, MS, CGC, Amy Shealy, MS, CGC, and Allison Schreiber, MS, CGC, Genetic Counselors from the Genomic Medicine Institute’s Center for Personalized Genetic Healthcare, educated employees about the importance of their family history and addressed questions about genetics and how to personalize wellness related to the environment, cancer, cardiovascular issues, prenatal/preconception and children’s health.

March, 2010

Dr. Eng kicks off Tucker-Ellis LLP Healthcare Lecture series
Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute, opened a new Healthcare Lecture Series hosted by Tucker-Ellis LLP by giving a talk entitled, “Genetics and genomics: How 21st century technology affects individuals and society.” After her practical state of the medicine and science talk in this era of genomic tools in personalizing healthcare, an expert attorney presented legal aspects, and a lively discussion ensued between the presenters and audience at the Natural Science Museum, Cleveland.

March 8, 2010
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Charis Eng, MD, PhD, Chair of the Genomic Medicine Institute, Honored for her American Cancer Society Clinical Research Professorship
On Monday, March 8, 2010, the American Cancer Society (ACS), jointly with the Cleveland Clinic’s Taussig Cancer Institute (TCI) and Lerner Research Institute (LRI), hosted a reception to celebrate Dr. Charis Eng’s selection as the ACS Clinical Research Professor. The ACS Professorship is the highest award given to a patient-oriented cancer researcher who has made high impact research that has been and can be used in everyday patient care, and who is an outstanding mentor. The ACS confers up to 2 ACS Clinical Research Professors each year, whereby there are no more than 15 ACS Clinical Research Professors in the country at any one time.

The reception included a program honoring Dr. Eng and her work, including statements by Jim Nealy, ACS’ Interim CEO, Dave Grams, ACS’ Regional Vice President, Dr. William Phelps, ACS’ Director of Translational & Preclinical Cancer Research, Dr. Derek Raghavan, Chair TCI, Dr. Paul DiCorleto, Chair, LRI, and Dr. Thomas Frazier, to whom Dr. Eng acts as a mentor, who stated, “Dr. Eng is a truly caring clinician, researcher, and mentor who goes to great lengths to provide what is needed to her patients and the individuals she mentors.” Cindi Lewis, an intern and research student who works with Dr. Eng in Cleveland Clinic’s Genomic Medicine Institute also had the following to say, “It was wonderful to celebrate the work of a woman whose prolific dedication to the evolution of cancer research and its teachings has deeply touches the lives of so many, including my own. Indeed, it is a beautiful and deserving honor to someone who has truly changed the fabric of modern science.”

The reception was held in the Cleveland Clinic’s Foundation House and was well attended by ACS and Cleveland Clinic Leadership, Dr. Eng’s Cleveland Clinic colleagues and GMI teammates.

March 6, 2010

Pre-Doctoral Fellow Awarded Department of Defense (DOD) Fellowship

ying

Ying Ni, pre-doctoral student in Dr. Charis Eng’s lab, was awarded a DOD Breast Cancer Research Program pre-doctoral fellowship for her application entitled “Succinate Dehydrogenase Genes as Novel Susceptibility and Modifier Factors for PTEN-related Heritable Breast Cancer.” The fellowship is tendered March 2010 through February 2013. This is the first time that a predoctoral trainee at the Cleveland Clinic has won this prestigious fellowship that will fund Ms. Ni as she pursues her PhD training in breast cancer research. At the end of her doctoral training, her patient-oriented cancer genetics research findings will inform patient care.

Ms. Ni is in her third year as a Howard Hughes Medical Institute predoctoral fellow at the Cleveland Clinic Lerner College of Medicine [link to web site of CCLCM HHMI program], whose philosophy is to train PhD investigators in patient-oriented research.

March 5,2010

carnival

GMI Gets Festive
On Friday, March 5, 2010, the Genomic Medicine Institute (GMI) hosted the Lerner Research Institute’s (LRI) Festive Friday celebration with a carnival theme. The Festive Friday event is held monthly and aims to gather the entire LRI team to foster networking and teamwork amongst different LRI areas. GMI’s event was a huge success with attendees from many departments enjoying popcorn and cotton candy while playing a variety of research-themed carnival games that provided tickets enabling attendees to qualify to win a variety of prizes including gift cards and a gift basket.

February, 2010

Two GMI Physicians Honored as Cleveland’s Best Doctors

best doc Charis Eng, MD, PhD, Chair of the Genomic Medicine Institute, Director of the Center for Personalized Genetic Healthcare (CPGH), and Medical Director of the Cancer Genetics Clinics, CPGH, and Rocio Moran, MD, Medical Director of General Genetics Clinics, CPGH, have been named to the 2010 Best Doctors List by Cleveland Magazine. The list is compiled by an exhaustive survey of more than 45,000 physicians who are asked to name the best doctors, nationally in their own and related specialties. Dr. Eng was honored in both the Medical Genetics and Medical Oncology & Hematology categories, while Dr. Moran was honored in the Pediatric Medical Genetics category.

January 18, 2010

hhs
Dr. Charis Eng, Chair of the Genomics Medicine Institute, Honored for her HHS Appointment
 On January 18, 2010, the members of the Genomic Medicine Institute Advisory Board for Development & Business Efforts held a reception to congratulate Dr. Charis Eng on her recent appointment to the Secretary of Health and Human Services Advisory Committee on Genetics, Health and Society.  The reception was held in the Falcon Room of the InterContinental Hotel and was well attended by Cleveland Clinic Leadership and Staff, and external supporters of Dr. Eng’s work. 

January 12-15, 2010

Education Fair
GMI Genetic Counselors participated in Cleveland Clinic’s Education Fair, with the goal of better educating both Cleveland Clinic Staff and patients about the important role family history and genetics play in personalizing healthcare provision. The fair was held in multiple locations throughout the Cleveland Clinic System on various dates.

January 01 , 2010


kaufman
Dr. Charis Eng, Chair of the Genomic Medicine Institute, 2009 Foundation Service Excellence Award Recipient
Dr. Eng was awarded the 2009 Foundation Service Excellence Award by the Healthnetwork Foundation, a non-profit organization committed to providing its membership access to leading physicians and world-class care. Healthnetwork Foundation’s Service Excellence Awards are presented annually to ten (10) physicians who have demonstrated an extremely high level of integrity and compassionate care to Healthnetwork members. Healthnetwork helps to fun the ground-breaking research being conducted by the recipients.