The Genomic Medicine Institute (GMI) serves as the expert base for the principles and practice of genomic medicine, including genetics and genomics research, clinical care, and outreach and education directed at genomics-based personalized healthcare. Research conducted at GMI focuses on both translational and clinical human genetics and genomic science, meaning discoveries made in the laboratory will advance the field of precision medicine and, ultimately, improve the quality of patient care.
GMI, founded over a decade ago by Charis Eng, MD, PhD, Chairperson, is specifically designed with open laboratory space in order to enhance genomics research. Researchers work together with clinicians in the clinical arm of the Institute — the Center for Personalized Genetic Healthcare — as well as the Genomic Medicine Biorepository, which processes and stores thousands of patient samples and biological molecules linked to a relational database, and the Genomics Core facility, which utilizes cutting-edge genomics technology for multiple researchers within the Cleveland Clinic and externally.
The Institute offers a unique training program to young investigators who wish to apply genomics to their research or medical practice. GMI also coordinates genomic research and practice across many disease areas to enhance interdisciplinary research and healthcare.
The Genomic Medicine Institute’s (GMI) 4th annual Genetics Education Symposium entitled, “Genetics & Genomics: Advances Across the Lifespan” was held on Thursday, September 15th at the InterContinental Hotel and Conference Center in Cleveland, Ohio. This day-long symposium was attended by over 150 healthcare professionals and students from a variety of organizations.
The presentations focused on advances in the diagnosis, management, and treatment of genetic conditions during all stages of life, from prenatal conditions to Alzheimer Disease. Presentations included: Genetics Primer & Clinical Updates by Angelika Erwin, MD, PhD, Expanded Carrier Screening – What you Need to Know by Amy Shealy, MS, LGC, Recent Advances in the Treatment and Management of Cystic Fibrosis by Silvia Cardenas, MD, Advances in the Management of Duchenne Muscular Dystrophy by Neil Freidman, MBChB, Autism Genetics – PTEN and beyond by Thomas W. Frazier, PhD, Thoracic Aorta Aneurysm and Dissection by Apostolos “Paul” Psychogios, MD, FACMG, Update on Clinical Breast Cancer Genetics by Holly Pederson, MD, Colon Cancer by Brandie Leach, MS, LGC and The Role of Biomarkers in Current Diagnosis of Alzheimer’s Disease by Jagan Pillai, MD, PhD. Charis Eng, MD, PhD, Course Director, founding Chair of the GMI and Director of the Center for Personalized Genetic Healthcare, concluded the day with her presentation Your Genes, Your Wine, Your Health, followed by a wine reception.
This year’s program also included new platforms such as patient panels and brief overviews of GMI research. The patient panels involved four patients and their families sharing experiences with genetic diagnosis and counseling. These first hand experiences were enlightening and highlighted the value of genetic counselors. We also showcased GMI trainees who gave “lightning talks,” or quick summaries, of GMI research and poster presentations displayed throughout the day.
Keep updated on all GMI events, seminars, and next year’s symposium by subscribing to our newsletter. To subscribe, email Janece Schaffer-Burbank, GMI Education Coordinator at schaffj3@ccf.org.
Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute
(GMI) and Director of The Center for Personalized Genetic Healthcare
(CPGH), has been awarded a Clinical Research Mentorship grant from the
Doris Duke Charitable Foundation (DDCF). These competitive grants aim to
strengthen the pipeline of clinical researchers in medicine by
fostering personal, one-to-one mentoring relationships between
well-established scientists and medical students. Dr. Eng, who has
received this award multiple times and thus demonstrated her dedication
to educating and advising the next generation, will mentor Victoria Byrd
from Case Western Reserve University School of Medicine.
DDCF’s Medical Research Program supports clinical research that advances the translation of biomedical discoveries into new preventions, diagnoses and treatments for human diseases.
Micheala Aldred, PhD, Associate Staff in the Genomic Medicine Institute (GMI), received the 2015 Outstanding Educator Award, presented at the annual Lerner Research Institute Awards for Excellence, held on April 12, 2016.
Nominations for this award are solicited from staff and leaders in the Cleveland Clinic Lerner College of Medicine (CCLCM) and Molecular Medicine PhD programs. Jonathan Smith, PhD, Director of the program, presented Dr. Aldred with the award in recognition of her extraordinary efforts as Course Director and teacher in the Molecular Medicine PhD program.
Charis Eng, MD, PhD, ACS Clinical Research Professor and Hardis Chair of GMI and Director of the Center for Personalized Genetic Healthcare (CPGH), has been awarded an honorary MD degree from the University of Liège, Belgium. The title of Docteur Honoris Causa was conferred to Dr. Eng due to her demonstrated excellence, leadership, novel thinking and remarkable dedication to her field of study.
Dr. Eng was recognized as being an acknowledged world-renowned scientist, physician and educator who has made fundamental contributions to the way clinical genetics is practiced in medicine around the world.
Charis Eng, MD, PhD, Hardis/ACS Professor and Chair of the Cleveland Clinic Genomic Medicine Institute and Professor and Vice Chair of Case Western Reserve University (CWRU) Department of Genetics and Genome Sciences, was an invited panelist at the Healthcare Businesswomen’s Association (HBA) event entitled “Gender Bias in Science and Medicine: Understanding the Present to Change the Future" (watch now). The panel discussion, comprised of local science and healthcare industry leaders, addressed identifying gender bias in today’s workplace and strategies of how to change it in the future. HBA partnered with the Cleveland Clinic Women’s Professional Staff Association, CWRU, MetroHealth System, Biomotiv, and the Natural History Museum for this event.
Dr. Eng was joined by fellow speakers who collaborate with women in the sciences and healthcare throughout the city of Cleveland and beyond, including: Diana Bilimoria, PhD, KeyBank Professor, Chair of CWRU Department of Organisational Behavior, Akram Boutros, MD, President and CEO, MetroHealth Hospital, Laura Butler, CEO, WorkLife Performance Consulting, Evalyn Gates, PhD, CEO, Cleveland Museum of Natural History, Lynn Singer, PhD, Deputy Provost, CWRU and Juliana M. Woda, PhD, Project Manager, BioMotiv.
The Healthcare Businesswomen’s Association is a global nonprofit organization comprised of individuals and organizations from across the healthcare industry committed to achieving gender parity in leadership positions, facilitating career and business connections and providing effective practices that enable organizations to realize the full potential of their female talent.
The Genomic Medicine Institute (GMI) has been awarded a Southwest Airlines Medical Transportation Grant for the fourth consecutive year. The grant provides complimentary, round trip tickets to patients with PTEN Hamartoma Tumor syndrome (PHTS) to visit the PTEN Multidisciplinary Clinic within the Center for Personalized Genetic Healthcare (CPGH). The PTEN/Cowden clinic is directed by Charis Eng, MD, PhD, and Kaitlin Sesock, MGC, LGC, is the genetic counselor coordinator.
GMI houses the world’s only PTEN Multidisciplinary Clinic, which provides specialized care and visit coordination for patients with PHTS. This rare genetic disorder predisposes patients to increased risks for multiple kinds of cancers as well as neurodevelopmental disorders such as autism. A trip to GMI to see our PTEN Clinic team provides evaluation and guidance from specialists who have experience caring for many patients with the same rare condition. Many patients have also had the opportunity to participate in on-site clinical research opportunities, enabling them to directly contribute to the scientific knowledge of their rare condition.
Southwest's generosity is based on financial need, and provides PHTS patients and their caregivers travel assistance to Cleveland for the specialized services CPGH provides.
Micheala Aldred, PhD, Associate Staff in the Genomic Medicine Institute (GMI), has been awarded a new grant entitled “Nonsense Readthrough: a Therapeutic Approach to Inherited Vascular Disorders” from the National Institute of Health, National Heart, Lung and Blood Institute (NIH, NHLBI), for a total of $1.6 million over four years.
Dr. Aldred’s lab will evaluate a new therapeutic approach known as nonsense readthrough, testing two drugs that may be able to correct genetic defects in an important cell-signaling pathway. Mutations in this pathway can lead to two serious disorders affecting the blood vessels, hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH). The long-term goal of this study is to identify new therapies for inherited vascular diseases, leading to future clinical trials and the possibility of personalized therapy based on the type of genetic mutation.
Angela Ting, PhD, and her research team at the Genomic Medicine Institute (GMI), have identified a unique signature for aggressive prostate cancer and are developing a diagnostic test based on this signature to assist in clinical decision-making. The findings were recently published in the journal Cell Reports. According to Dr. Ting, this study of DNA methylation patterns not only advances our understanding of the development of prostate cancer, but may eventually lead to enabling prevention.
Prostate cancer continues to be a serious healthcare problem with approximately 220,800 new cases reported in the United States in 2015. Researchers say distinguishing slow growing from aggressive prostate cancers may allow patients with aggressive cancers to receive potentially life-saving treatments. Conversely, patients with slow growing cancer could avoid unnecessary treatments and side effects.
Brandie Leach, MS, LGC, was recently honored to accept the Colon Cancer Alliance Sapphire Award in Phoenix, AZ. Brandie accepted the award on behalf of a large team of Cleveland Clinic caregivers from the Digestive Disease Institute (DDI), Taussig Cancer Institute, and the Center for Personalized Genetic Healthcare (CPGH) in the Genomic Medicine Institute. The team was lead by Dr. Matthew Kalady from the DDI. Other CPGH team members included Jessica Marquard, MS, LGC and Jill Polk, MS, LGC.
This award was given in appreciation of the team’s successful organization of the inaugural “Cleveland Undy”, held last spring. The Undy Run/Walk is a unique family-friendly event created by the Colon Cancer Alliance, where participants are encouraged to dress up in underwear to spark important conversations about colon cancer, the second leading cause of cancer death in the U.S. The local event helped to raise over $17,500, a portion of which will remain in the Cleveland area to support screening and awareness events.
Charis Eng, MD, PhD, and her research team, have discovered a new gene variant associated with Cowden syndrome, an inherited condition that carries high risks of thyroid, breast, and other types of cancers, including a subset of non-inherited thyroid cancers. This discovery was recently published in the American Journal of Human Genetics.
“The discovery of these new cancer-predisposing gene variants will facilitate predictive genetic testing, risk assessment, genetic counseling, and clinical management of the disease,” said Dr. Eng.
Details about this important discovery:
HemOnc Today
Researchers identify new cancer-predisposing gene associated with Cowden disease
Genome Web
Cowden Syndrome Study Uncovers Mutant Gene With Ties to Sporadic Thyroid Cancer
Story also highlighted on the Cleveland Clinic website:
Health Essentials
Researchers Discover Gene Has Link to Thyroid, breast Cancers
Full journal publication here:
American Journal of Human Genetics
We’ve all heard of personalized health care, in which a treatment can be right for one patient and not for another. But what is precision medicine? Explore the recent Cleveland Plain Dealer Op-Ed, Treating cancer with precision medicine and genetic evaluations, featuring Charis Eng, MD, PhD; J. Kevin Hicks, PharmD, PhD; and Joanne Ngeow, MBBS, MRCP, MPH.
The Genomic Medicine Institute (GMI) celebrated the10th anniversary of the Center for Personalized Genetic Healthcare at it’s 3rd annual Genetics Education Symposium entitled “Genetics and Genomics: Integration into Clinical Practice,” (CME Course Director Charis Eng, MD, PhD, founding Chair of the GMI and founding Director of the Center for Personalized Genetic Healthcare) held at the InterContinental Hotel in Cleveland. The day-long symposium, which was attended by over 150 healthcare professionals and students, continues to grow and generate significant interest in the field of genomic medicine.
This year a variety of engaging presentations were delivered, including: Referring Patients to Genetic Counseling/Testing by Daniel Sullivan, MD, Principles of Pharmacogenomics by Kevin Hicks, PharmD, PhD, History and Progress of Medical Genetics by Timothy Moss, MD, Tumor Genetic Profiling by Davendra Sohal, MD, MPH, and a spirited panel discussion on the Reimbursement of Genetic Testing with Stephen Lucht, MD, Jacqueline Riley, MS, LGC and Bruce Rogen, MD, MPH.
“Precision medicine is like anything else. The biggest enemy is the bureaucracy”
Dr. Tony Wynshaw-Boris, Chair of the Department of Genetics and Genomic Sciences at Case Western Reserve University, delivered the keynote address: “Chromosome Therapy: Rescue of Ring Chromosomes by Cellular Reprogramming.”
GMI appreciates the generous sponsorship provided by Appistry, CompanionDx, Counsyl, GeneDx, Genzyme, Invitae, Myriad, Personalis, Pfizer, Sequenom and Shire.
The Center For Personalized Genetic Healthcare (CPGH) will be well-represented at the National Society of Genetic Counselor’s (NSGC) annual meeting this fall! Allison Schreiber, MS, LGC, genetic counselor within CPGH, was selected for Best Full Member Abstract for “Assessment of complexity among cancer, cardiovascular, general pediatric/adult, and prenatal genetic counseling at a single institute: a tool to improve efficiencies and help guide patient volumes.”
NSGC expert reviewer comments included, “Your study does a marvelous job of exploring the issue of what is a fair caseload across the subspecialties of a clinical genetic counseling practice,” and “This study will aid clinic managers tremendously. It is well organized and well executed.”
In addition to this award, additional CPGH genetic counselors will be represented at the meeting. Jessica Marquard, MS, LGC will be presenting a platform, Brandie Leach, MS, LGC, and Marissa Smith, MS, LGC are speakers, and Brittany Psensky, MS, LGC, Ryan Noss, MS, LGC and Christina Rigelsky, MS, LGC will be exhibiting posters.
Congratulations to all!
Congratulations to three faculty members of the Genomic Medicine Institute (GMI) on their recent promotions. David Serre, PhD, Angela Ting, PhD, and Bin Zhang, PhD, have all been promoted from Assistant Professor to Associate Professor of Molecular Medicine in the Cleveland Clinic Lerner College of Medicine. These appointments represent a major landmark in their academic careers and we wish them continued success.
GMI is pleased to announce that Charis Eng, MD, PhD, and Kevin Hicks, PharmD, PhD, will be the national coordinating investigators for UPGRADE (Utility of PharmacoGenomics for Reducing Adverse Drug Effects). UPGRADE is a multicenter registry sponsored by CompanionDx™ that includes up to 279,000 patients enrolled at up to 2,000 clinical sites.
The primary objective is to assess whether pharmacogenomics testing leads to clinically meaningful changes in a patient’s medication regimen.
“This exemplifies how academic-private partnerships can rapidly achieve meaningful translational research to support the practice of precision medicine,” said Dr. Eng.
Congratulations to Pauline Funchain, MD, an Ambrose Monell Clinical Cancer Genomics Fellow in the Eng Lab who received a 2015 Conquer Cancer Foundation ASCO Merit Award. This award recognizes exceptional scientific merit of research conducted by oncology fellows and residents early in their careers, and encourages attendance at the annual American Society of Clinical Oncology (ASCO) Meeting. Pauline attended the Chicago meeting in June to present her abstract titled “Hereditary Implications of Somatic Tumor Testing.”
GMI is pleased to announce that Amanda Tilot received the 2015 Doctoral Excellence Award in Molecular Medicine from the Case Western Reserve School of Medicine. This award was established to recognize outstanding graduate students in PhD programs. Successful recipients exhibited exceptional qualities in research, scholarship, service and collaboration.
Amanda earned her PhD in Dr. Charis Eng’s lab, and has accepted a postdoctoral position at the Max Plank Institute for Psycholinguistics in the Netherlands, beginning in May, 2015.
Dr. Charis Eng, who received her MD and PhD degrees from the University of Chicago, was presented with the 2015 Distinguished Service Award at the Alumni Awards Reception in Chicago. This award, presented by the University of Chicago Biological Sciences Division and the Pritzker School of Medicine, recognizes alumni who have brought honor and distinction to the Division of Biological Sciencesz/Pritzker School of Medicine and to the University of Chicago by demonstrating outstanding leadership in and making significant contributions to the biological sciences or medicine through research, clinical care, health service administration, public and professional service, or civic duties.
Ron Rerko, Director, Translational Development, was invited to participate on a panel at the MidAmerica Healthcare Venture Forum held in Chicago in May, 2015. MedCity Media and Mid-America Healthcare Investors Network (MHIN) connected investors with corporate business development executives to highlight investment opportunities with promising start-up companies. The panel examined recent and anticipated innovation in the fields of genomics and personalized medicine, as well as promising areas for investment.
The Genomic Medicine Institute (GMI) and the Center for Clinical Genomics are excited to announce a broad research collaboration with Human Longevity Inc., (HLI), Dr. J. Craig Venter’s company in San Diego, CA. HLI is using genomic sequencing, the human microbiome, proteomics and advanced computing to tackle aging-related human diseases. Under the master agreement negotiated by Dr. Charis Eng, Chairperson, GMI, the initial project is in collaboration with Drs. Wilson Tang and Stan Hazen of the Cleveland Clinic to discover new disease-causing genes and disease pathways associated with heart disease. Read the Story
Dr. Eng notes a great deal of potential moving forward to collect and sequence thousands more samples. “Cleveland Clinic has these precious samples of DNA linked to well-annotated clinical information, and Human Longevity has the firepower with lots of the newest, most cutting-edge sequencers.” Dr. Tang also emphasizes the importance of this joint venture as a major step in building the infrastructure for clinical genomic medicine. “This unique opportunity brings clinicians and researchers from all disciplines to tackle some of the biggest challenges in our daily clinical practices using these powerful yet sophisticated technologies. We are hopeful that this also brings us a step closer to applying these tools at the bedside.”
Charis Eng, MD, PhD, Hardis Chair of the Genomic Medicine Institute (GMI) and Director of its clinical arm, the Center for Personalized Genetic Healthcare, was recently interviewed by 19 Action News on the topic of “BRCA Testing: Am I at Risk?”. Actress Angelina Jolie recently brought this particular genetic screening for breast and/or ovarian cancer to the forefront. After testing positive for a BRCA1 mutation, she chose to have a double mastectomy and eventually had both her ovaries and fallopian tubes removed. The measures she chose were all in the name of being proactive, supported by research evidence, which Dr. Eng feels very strongly about.
Her advice for anyone who is concerned about their risk is to craft an accurate and thorough family health history and speak with a geneticist or genetic counselor. Genetic counselors are trained to help you determine which screenings may benefit you and protect your future health. Dr. Eng believes that too much inappropriate testing of women without the clinical red flags that denote increased inherited risk of cancer is dangerous. She worries that it can yield too many false positive or false negative test results, creating either unnecessary emotional turmoil or unwarranted relief, when there really should be extra attention and care.
“The more we abuse testing in the wrong situation, the more expensive it will be . . . we have to be good stewards of good genetics practice.” In the future, BRCA1 and BRCA2 screening may become a routine part of care once you reach a certain age, but Dr. Eng feels our system is not yet ready for mass testing. In the meantime, taking preventative steps like family health histories and genetic counseling can protect more women from cancer.
We are proud to announce that Brandie Leach, MS, a Licensed Genetic Counselor in the Center for Personalized Genetic Healthcare (CPGH), the clinical arm of the Genomic Medicine Institute, was elected President of the Collaborative Group of the Americas on Inherited Colorectal Cancer. This group aims to advance research on several rare forms of inherited colorectal cancers, as well as improve clinical care for patients and families affected by these diseases.
Ms. Leach specializes in cancer genetic counseling and this appointment marks the first time a genetic counselor has been elected President of this group. Genetic counselors are healthcare professionals with specialized training in medical genetics and counseling.
Angela Ting, PhD, a Principal Investigator in the GMI, led the Lerner Research Institute’s (LRI) second annual “LRI Science Day” for students from Citizens Leadership Academy (CLA), a local charter school. Students in grades 6-8 were asked to submit a contest entry in the form of an essay, drawing, poem or photograph about their interest in science and medicine. From this competition, 50 students were invited to attend.
Fellow GMI personnel also took an active role in this popular event. David Serre, PhD, spoke on his beginnings in science and the state of the Cuyahoga River, while Jessica Mester, MS, Licensed Genetic Counselor, spoke to a group on genetic inheritance. Competitive DNA extraction was also performed by research technologists Todd Romigh, MS, and Sirena Meade, MS and PhD candidate Lamis Yehia, MS.
GMI is proud to be a part of this outreach program, which encourages students from underprivileged backgrounds to pursue a career in science, while raising awareness in our surrounding communities of the diverse and exciting research going on in LRI and CCF. Dr. Ting explains that many scientists and physicians say they became intrigued by science at an early age, and she hopes this program will foster that interest in young children. “Different kids are fascinated by different things – we try to give them a broad, hands-on experience, and we hope to connect with them.”
The Lerner Research Institute’s Genomics Core, under the scientific direction of Charis Eng, MD, PhD, has been awarded a $600,000 NIH Shared Instrumentation Grant (Dr. Eng is the PI on the grant) to significantly upgrade its next generation sequencing capabilities.
Charis Eng, MD, PhD, Genomic Medicine Institute Chair, recently published a paper in the Journal of Clinical Oncology entitled “Second Malignant Neoplasms in Patients With Cowden Syndrome With Underlying Germline PTEN Mutations.”
Micheala Aldred, PhD, Genomic Medicine Institute, was invited to be the “featured speaker” and conclude the session on Epigenetics in Pulmonary Hypertension: Novel Mechanisms and Targets at the 2014 American Thoracic Society Conference. Dr. Aldred’s presentation was entitled “Epigenetics: A changeable landscape.”
Amanda Tilot, doctoral student in the Molecular Medicine program, was named the winner of the F. Merlin Bumpus Junior Investigator Award. This award highlights excellence in research by graduate students and postdoctoral fellows in both basic science and clinical areas.
The Friends of the LRI event highlights discoveries and innovations in treating specific disease areas and provides a unique opportunity to engage one-on-one with some of the world’s leading scientists.
Charis Eng, MD, PhD, Chair of the Cleveland Clinic’s Genomic Medicine Institute and Thomas Frazier II, PHD, Director of the Children’s Hospital Center for Autism are working to investigate autism and genetic related factors. Dr. Eng has discovered a gene mutation that predisposes people to certain kinds of cancer that can also be linked with autism. To learn more about this exciting research, watch interview here.
Dr. Charis Eng has achieved much during her busy life. Being a woman in the field of medicine and medical research has not always been easy, especially when it comes to being mentored.