Genomic Medicine Institute

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.




Eng Lab Discovers that a Rarely Studied Gene Plays a Role in Predisposition to Thyroid Cancer


4/21/17 - Charis Eng, MD, PhD and her research team including first author Ying Ni, PhD, postdoctoral fellow, at the Cleveland Clinic’s Genomic Medicine Institute have discovered that a faulty, rarely studied gene called USF3 may predispose individuals to thyroid cancer.This exciting research was recently published in Human Molecular Genetics.

The discovery of this cancer predisposition gene will facilitate predictive genetic testing, risk assessment, genetic counseling and clinical management of the disease.

Featured in over 13 media outlets, including:

American Association for the Advancement of Science - EurekAlert

Cleveland Clinic Researchers Publish New Study of Family with Cowden syndrome, Thyroid Cancer

Cleveland Clinic - ConsultQD

Rarely Studied Gene Plays a Role in Predisposition to Thyroid Cancer

Full journal publication here:

Human Molecular Genetics

Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma


Center for Personalized Genetic Healthcare Patient Story Featured in Autism News Site

Description: - Since her discovery of the PTEN gene in 1997, cancer geneticist and Cleveland Clinic Genomic Medicine Institute Chair, Charis Eng, MD, PhD has collaborated with physicians and scientists across the nation to determine the impact of a PTEN gene mutation. Their research determined that this gene, in some cases, can cause both cancer and autism. This subtype of autism has been named PTEN-ASD and is estimated to affect up to 2% of individuals with autism.

That was the story of a boy in Tulsa, Oklahoma, Charlie Ryan, one of Dr. Eng’s patients at Cleveland Clinic’s Center for Personalized Genetic Healthcare. After her son developed autism and a benign tumor - Charlie’s mother was determined to find out what could cause such seemingly polar diseases. Her research led Charlie to Cleveland Clinic to be treated by Dr. Eng and autism expert, Thomas Frazier, PhD. In a story by Spectrum, an autism news site, Charlie’s parents tell their story. The article also includes how PTEN was discovered, the impact of a PTEN gene mutation, and finally, the treatment options for Charlie and others like him. Read the whole story on Spectrum’s website here.


Cleveland Clinic Genetic Counseling – Expands its Reach

Description: New Ways to Bring Genetic Counseling to You

11/28/16 - Cancer genetic counseling, from Cleveland Clinic’s Center for Personalized Genetic Healthcare, is now available at North Coast Cancer Centers in Mansfield and Sandusky through online appointments, or telegenetics.  Telegenetics is a genetic counseling appointment using a secure, private platform similar to Skype. 

Instead of making the long drive, paying for parking and walking to your appointment, we meet you where you are. During your visit, a medical assistant will coordinate your online session in a private room using a desktop, webcam, and microphone. You will be able to talk with the cancer genetic counselor with the same ease as a face-to-face appointment.  

Talk to your doctor about whether genetic counseling is right for you. A referral from your doctor is required to schedule an appointment. Call a Cleveland Clinic Cancer Center to schedule your visit:

- Mansfield Appointment Line: 419-756-2122

- Sandusky Appointment Line: 419-626-9090

For in-person appointments or general questions, call Cleveland Clinic’s Center for Personalized Genetic Healthcare appointment line at 216-636-1768.


Gather family health history this holiday season

Brochure Family.jpg 11/22/16 - One of the most valuable tools to decipher if an individual has an inherited or genetic risk of a disease is family health history.  Recognizing that an individual has a genetic cause of a disease is the first step to early detection and prevention.

The holidays are the perfect time to gather information to create your family health history, which is why Thanksgiving was named Family Health History Day by the U.S. Surgeon General in 2004. 

Collecting medical information benefits the whole family and can help health professionals determine potential risk factors like heart disease, stroke, diabetes and cancer. Our CPGH genetic specialists work with health professionals to review medical and family histories and explain hereditary health risks for patients and their families. So, while gathered with your family this season, gather your health history! Learn more about how to start your family health history from our CPGH website here.


Dr. Charis Eng presents the future of the microbiome as first among the Top Medical Innovations in 2017

10/31/16 - More than 1,700 healthcare stakeholders gathered in Cleveland, October 24–26, 2016, to discuss the latest medical breakthroughs and make new connections to spark future awe-inspiring innovations.

Now in its 14th year, Cleveland Clinic’s Medical Innovation Summit  is the oldest and largest meeting of its kind in healthcare. The perennial highlight? The unveiling of the top 10 medical advancements for the coming year — those that Cleveland Clinic experts predict will change patient care forever.

Topping the list was “Using the microbiome to prevent, diagnose, and treat disease,” presented by Charis Eng, PhD, MD, Founding Chair and Director of Cleveland Clinic’s Genomic Medicine Institute.

Microbes in our bodies — and the chemicals they emit — interfere with the way food is digested, medicine is deployed and even how a disease progresses. Biotech companies, once focused on the genomic market, are pivoting to the potential of the microbiome to develop new diagnostics, new therapies and “probiotic” products to prevent dangerous microbe imbalances. With the National Microbiome Initiative’s accelerating research and development, experts believe 2017 is the year the microbiome becomes the healthcare industry’s most promising and lucrative frontier.

Tune into NPR at this link, where Dr. Eng and several Cleveland Clinic specialists discuss these innovative topics and see Cleveland Clinic’s newsroom for full list.


Collaborative Group of the Americas on Inherited Colorectal Cancer president and CPGH genetic counselor, Brandie Leach, wins Best Poster at national conference

Jessica Marquard MS, LGC (left) and Brandie Leach MS, LGC (right)

10/13/16 – This October, Brandie Leach MS, LGC and Jessica Marquard MS, LGC from Center for Personalized Genetic Healthcare (CPGH) presented at the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA) conference in Seattle.

Ms. Leach won Best Poster entitled, “Prevalence of mono-allelic MUTYH carrier status in patients of varied ancestries” and was also selected for a podium presentation of another abstract, “Identification of APC I1307K Among a Cohort of Patients Undergoing a Pan-Cancer Gene Panel: Analysis of Ancestry-Based Cancer History”.  Ms. Marquard also presented her abstract at the podium entitled, “RPS20 and GALNT12 mutations in patients with MLH1-deficient tumors: case report and literature review”.

At this year’s conference Ms. Leach, cancer genetic counselor work leader at CPGH, presided as CGA President. She is the first non-physician elected president of this professional organization. Collaborative Group of the Americas on Inherited Colorectal Cancer 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.


CPGH genetic counselors present at National Society of Genetic Counselors annual conference

10/12/16 – Eight genetic counselors from the clinical arm of GMI, Center for Personalized Genetic Healthcare (CPGH), recently presented at the 35th annual meeting for the National Society of Genetic Counselors (NSGC) in Seattle, Washington.

Linford Williams MS, LGC, one of the newest additions to the CPGH team, was chosen to give a podium presentation of his graduate school thesis at this annual meeting. Linford’s presentation focused on the development of a novel tool to assess perception of diagnosis in a population of adolescents with disorders of sex development and their parents.

Several CPGH genetic counselors presented posters including:

  • Diane Clements MS, LGC - Expanding the phenotype in patients with TGFβ-pathway disorders including arterial beds affected: Experience of a tertiary care center
  • Ryan Noss MS, LGC - Improved uptake and efficiency of genetic counseling services via an embedded genetic counselor in a multidisciplinary breast cancer clinic
  • Lauren Palange MS, LGC - Prenatal testing in pregnancies established through in vitro fertilization in the era of noninvasive prenatal testing
  • Brittany Psensky MS, LGC - Prenatal testing in pregnancies established through in vitro fertilization in the era of noninvasive prenatal testing
  • Christina Rigelsky MS, LGC - SMAD2 associated with thoracic aortic aneurysms and dissection found on whole exome sequencing for a child with a congenital heart defect
  • Kaitlin Sesock MS, LGC - Genetic counselors' knowledge of and assessment for eating disorders in a  prenatal setting
  • Amy Shealy MS, LGC - Novel finding of complete paternal uniparental isodisomy 4 in a girl with a complex congenital heart defect and bilateral optic nerve hypoplasia

Check out the Center for Personalized Genetic Healthcare website to learn more about our genetic counselors at the Cleveland Clinic!


Micheala Aldred, PhD awarded Department of Defense grant for her novel therapeutic approach to vascular malformation

Description: - Micheala Aldred, PhD and her team at the Cleveland Clinic Genomic Medicine Institute (GMI) were awarded a Peer Reviewed Medical Research Program Discovery Award from the Department of Defense towards her research on Hereditary Hemorrhagic Telangiectasia (HHT).  

Between 40,000 and 60,000 people in the United States are thought to be affected by HHT. This inherited condition causes vascular malformations to form in the skin, mucous membranes, and often in organs such as the lung, liver, and brain. These abnormal blood vessels are prone to severe bleeding that can be life-threatening, or result in life changing events such as stroke. On average, individuals with HHT pass on the genetic mutation to half of their children.

This 1.5 year grant will fund Dr. Aldred’s study on two drugs, ataluren and amlexanox, and perform experiments to understand why some mutations respond well to the drugs, whereas others do not. It also forges a new collaboration with Dr. Claire Shovlin, who runs a specialist HHT clinic at Imperial College London, UK.

Ataluren and amlexanox, work by enabling cells to bypass a particular type of DNA gene change known as a nonsense mutation. These mutations produce a “stop” signal that occurs too early in the message from the gene, and prevents the cell from making the correct protein. Dr Aldred’s study will be the first to test if trying to “stop the stops” is an effective therapeutic approach in HHT. If successful, the next step will be to design clinical trials to start testing these therapies in patients.

Learn more about Dr. Aldred’s lab and all the Genomic Medicine Institute research staff at our webpage


Dr. Charis Eng interviewed for Metro NY newspaper article on genetic testing for breast cancer

Eng 10/6/16 – Cleveland Clinic Genomic Medicine Institute Founding Chair and Director of Center for Personalized Genetic Healthcare, Charis Eng, MD, PhD was quoted in the article, “Who should undergo genetic testing for breast cancer?” in the Metro NY newspaper.  Dr. Eng recommends taking a family health history and sharing it with their primary care physician or asking to be referred to a genetics professional such as a genetic counselor.  The genetics professional will evaluate the potential genetic risk, and if appropriate, discuss and offer gene testing options. Read the whole article at Metro NY’s website here


GMI hosts 4th annual Genetics Education Symposium

Angelika Erwin, MD, PhD giving
first talk of the day

9/23/16 - 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.

Thomas W. Frazier, PhD presenting on Autism genetics and the PTEN gene

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

Dr. Eng Awarded Clinical Research Mentorship Grant

Eng/Byrd 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.


Outstanding Educator Award presented to Micheala Aldred, PhD

Micheala Aldred

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, Awarded Honorary Doctorate Degree

U. of Liege

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.


Dr. Charis Eng Addresses Gender Bias in Science and Medicine

HBA Group Shot 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.


GMI Patients Benefit from Southwest Airlines Medical Transportation Grant

SWA AirplaneThe 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, Awarded Grant to Study New Therapeutic Approach

Micheala AldredMicheala 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.


New Research May Help Identify Aggressive Tumors

Angela TingAngela 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.


Cleveland Undy team earns Sapphire Award

Brandie LeachBrandie 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.


Thyroid Cancer Gene Discovery

Charis EngCharis 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

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer