GMI Welcomes Investigator Dennis Lal, PhD

Dennis LalDennis Lal, PhD, is an investigator with Cleveland Clinic’s Genomic Medicine Institute. Dr. Lal uses genetic data from in-house and globally collected patient cohorts to discover genes related to epilepsy syndromes, to develop novel methods for interpreting missense variants and to characterize patient disease trajectories. Dr. Lal also has an appointment at Cleveland Clinic’s Epilepsy Center, and is a Visiting Scientists with Investigator status at the Broad Institute of Harvard and the Massachusetts Institute of Technology.

The Lal Research group at Cleveland Clinic studies large-scale genetic and clinical biomarkers from thousands of patients to improve our understanding of brain disorders and aims to subsequently translate the gained knowledge into clinical care.

In 2016, Dr. Lal began a weekly online series on neurodevelopmental disorders accessible freely to all interested individuals. This online journal club is hosted on YouTube, and there are more than 80 presentations available for public viewing, which have been accessed in more than 100 countries across the globe.

Dr. Lal received his BS and PhD from the University of Cologne, Germany, where he served as a group leader in large-scale genetic studies of epilepsies. He then completed a post-doctoral fellowship at the Broad Institute of Harvard and the Massachusetts Institute of Technology, investigating method development for statistical analysis of neurodevelopmental disorders.


GMI Welcomes Senior Recruit, David B Flannery, MD, as Director of Telegenetics and Digital Genetics

David B FlanneryDavid B Flannery, MD, is the Director of Telegenetics and Digital Genetics, as well as a Staff Physician in Cleveland Clinic’s Genomic Medicine Institute. He sees patients on Main Campus and via telegenetics technology.

Dr. Flannery is certified by the American Board of Pediatrics and the American Board of Medical Genetics. Dr. Flannery completed his bachelor’s degree in psychology from Columbia University, and received his medical degree from Emory University. He completed his pediatrics residencies at the Emory University Affiliated Hospitals and the University of Virginia, and his fellowship in human genetics at the Medical College of Virginia. Dr. Flannery also earned a post-graduate certificate in Health Services Research and Health Economics from the Medical College of Georgia. He is board-certified in both Clinical Genetics and Pediatrics.

A physician leader with a national reputation for shaping the policy and practice of medical genetics, Dr. Flannery has been a key figure in driving the adoption of telegenetics solutions. He has also been active internationally, representing the American Academy of Pediatrics on the World Health Organization’s Topic Advisory Group for the development of ICD-11 codes for genetics, as well as on the Pediatric Task Team of the Global Alliance for Genomics and Health. Dr. Flannery also served as an accreditation site visitor for the American Board of Genetic Counseling, and holds leadership positions with the American Medical Association.

Dr. Flannery has nearly 40 years of clinical experience, including appointments at the University of Virginia’s School of Medicine and the Medical College of Georgia at Augusta University, and has published extensively in clinical genetics, telemedicine and dysmorphology, and is a frequent presenter at national meetings. Most recently, Dr. Flannery served as Medical Director of the American College of Medical Genetics and Genomics, the National Coordinating Center for Regional Genetics Collaboratives, and the Newborn Screening Translational Research Network.

His specialty interests include general genetics, pediatric genetics, prenatal genetics, cardiovascular genetics, cancer genetics, telemedicine, and telegenetics.

Jennifer Hockings, PharmD, PhD, Featured in Medical Institute Newsletter

Pharmacogenomics: An Emerging Clinical Tool

Jennifer Hockings PhamrD PhDInter-patient variability in response to medications is an ongoing concern in the medical field. Despite adjustments for age, weight, concomitant medications, and renal or hepatic function, certain patients respond well, some experience severe adverse effects while others do not respond to the same drug therapy. Numerous studies, spanning several decades, have demonstrated that genetic polymorphisms are one of the main factors that influence medication response.

Pharmacogenomics, the study of how an individual’s genetic variations impact the response to drugs, has emerged as an essential tool to optimize therapy and minimize the risk of adverse effects. In general, genetic polymorphisms result in alterations of pharmacokinetic and/or pharmacodynamics properties which are then reflected in therapy outcomes that range from potentially life-threatening adverse effects to inadequate therapeutic response. The goal of pre-emptive pharmacogenomics testing is to take into account the impact of each individual’s genetic variants when selecting therapy thus providing personalized medicine. The benefits of incorporating pharmacogenomics can be exemplified in patients who are diagnosed with major depressive disorder. The majority of patients will need 6 to 12 weeks on a steady antidepressant dose to experience sufficient symptom relief. However, some patients will experience adverse effects or insufficient improvement necessitating changes in therapy and extending the time to remission of symptoms. This results in frustration for the patient along with potential for poor outcomes and higher treatment costs. Pharmacogenomic testing may help identify subsets of the population who carry genetic variants that may alter psychotropic response to specific antidepressants. With this information, clinicians can minimize the need to trial various antidepressants and the time to a positive therapeutic outcome.

Many commercial laboratories offer pharmacogenomics testing but testing is not standardized,
thus results and interpretations may differ between laboratories. This can lead to confusion and can make clinical application of pharmacogenomic results difficult. To address this concern, Molecular Pathology and Pharmacy are collaborating to develop an in-house pharmacogenomics testing process to provide an additional clinical tool to strengthen the ability to provide quality patient care. Until then to assist with testing and interpretation, the Center for Personalized Genetic Healthcare (CPGH), the clinical arm of the Genomic Medicine Institute (GMI), offers a Pharmacogenomic Clinic that welcomes referrals. This clinic is interdisciplinary and currently staffed by our clinical geneticist, Angelika Erwin, MD and our pharmacogenomics clinical specialist, Jennifer Hockings, PharmD, PhD. Although pharmacogenomics has great potential for clinical utility when used accordingly, many third party payers, including Medicare, may only cover testing for certain disease diagnoses and usually after therapy failure. It is important that patients are aware they may have out-of-pocket costs associated with pharmacogenomics testing.

If you have any questions, please contact the pharmacogenomics clinical specialist, Jennifer
Hockings (; 216-442-5535).

Eng Lab Awarded Computational Grant from Ohio Supercomputer Center

Charis Eng, MD, PhD, was awarded a computational grant (110,000 resource units) from Ohio Supercomputer Center, Columbus, for a project titled: “Insight into Structure and Dynamics from Computational Modeling and Simulation: The Effects of Germline PTEN Mutations in Autism Spectrum Disorder and Cancer.” The project is aimed at understanding the dynamics and structure of PTEN in Autism Spectrum Disorder (ASD) vs. cancer-associated mutations in context of the lipid membrane as well as its lipid substrate phosphatidylinositol 3,4,5 triphosphate (PIP3) and adenosine triphosphate (ATP). “Understanding the functional impact that ASD- vs. cancer-associated germline PTEN missense mutations have on the structure of PTEN will aid in a better clinical-molecular classification and prediction of associated phenotypes,” says postdoctoral fellow Iris N Smith, PhD, who is working on the project. “This will potentially allow for translation into new diagnostic and therapeutic approaches.


Brandie Leach, MS, LGC Elected to Board of Lynch Syndrome Screening Network

We are thrilled to announce that GMI's Genetic Counselor Brandie Leach, MS, LGC has been elected to the Board of Directors for the Lynch Syndrome Screening Network! The Lynch Syndrome Screening Network promotes universal tumor screening of individuals with newly diagnosed colorectal and endometrial cancers. Its goal is to reduce the cancer burden associated with Lynch syndrome for patients and their families.


CPGH Caregivers Receive Excellence Award

CPGH received an enterprise Excellence Award for teamwork, recognizing the team for its commitment to delivering quality patient care when the department was short-staffed. CPGH’s genetic counselors, part-time physicians, and support staff worked around the clock to ensure that patients received comprehensive clinical genetics services based on their levels of acuity. They had a significant impact on both patient care and business operations, even slightly increasing the number of patients served compared to 2016 when the group was fully staffed.


GMI Student Lamis Yehia Successfully Defends PhD Thesis

On November 8, 2017, GMI student Lamis Yehia successfully defended her PhD thesis titled, Novel Role of SEC23B as a Cancer Susceptibility Gene in Cowden Syndrome and Apparently Sporadic Thyroid Cancer. Dr. Yehia (!) completed her doctoral studies in the Cancer Biology Training Program within Case Western Reserve University’s Department of Pathology, where she was mentored by GMI Chair Dr. Charis Eng.


Dr. Eng Kicks Off the 2017 Medical Innovations Summit by Discussing How Genomic Medicine Has Impacted Her Cancer Journey

In an interview with Cleveland Clinic's Chief of Staff Dr. Brian Donley, Dr. Eng explains why the topic of genomics and precision medicine is so important right now and shares her own story as a patient.


GMI Friend Tom Frazier II, PhD, Shares His Family's Genetic Counseling Experience at the 2017 Medical Innovations Summit

CPGH genetic counselor Allison Schreiber, MS, LGC, discusses genetic testing for patients with autism with long-time GMI friend and Chief Science Officer of Autism Speaks Tom Frazier II, PhD, during his keynote address at MIS2017. (Allison joins Dr. Fraizer at 15:10.)


Dr. Eng Receives Professional Achievement Award

Dr. Charis Eng

10/27/17 - Charis Eng, MD, PhD, founding Chair of Cleveland Clinic’s Genomic Medicine Institute and founding Director of the institute’s clinical component, the Center for Personalized Genetic Healthcare, was honored with a Professional Achievement Award from the University of Chicago Alumni Association. Click here for the full press release.


GMI Played Significant Role in Cleveland Clinic's Medical Innovation Summit

10/26/17 - More than 2,500 people gathered in downtown Cleveland on October 23-25 for the 15th annual Medical Innovation Summit hosted by Cleveland Clinic Innovations. This year’s theme was Genomics & Precision Medicine. GMI played a major role in planning the event, and GMI Chair Charis Eng, MD, PhD, spoke on multiple panels. Memorably, Dr. Eng shared her own cancer journey in a conversation with Cleveland Clinic’s Chief of Staff, Brian Donley, MD, to open the Summit.

Sirena Meade, Dr. Charis Eng, Lamis Yehia, Dr. Sara Akhavanfard

Pictured above from left to right: Sirena Meade, Dr. Charis Eng, Lamis Yehia, Dr. Sara Akhavanfard

Dr. Eng participated in the following panel discussions:

  • Breaking the Code: Will Next-Generation Sequencing Bring Genomics to the Mainstream? Moderated by CNBC reporter Meg Tirrell, the panel also comprised Cindy Collins, MBA, Chief Executive Officer of Human Longevity, Inc.; Christine Cournoyer, MA, Chief Executive Officer of N-of-One, Inc.; and Alexander Ford, MS, President of Myriad Genetic Laboratories, Inc.


Picture from Breaking the Code at Cleveland Clinic's Medical Innovation Summit

Pictured above from left to right: Meg Tirrell, Cindy Collins, Christine Cournoyer, Dr. Charis Eng, Alexander Ford.

  • Precision Medicine Implementation. Led by Wilson Tang, MD, Director of Cleveland Clinic’s Center for Clinical Genomics, Dr. Eng participated in a roundtable discussion with Joan Booth, Senior Director of Research Operations; Daniel Farkas, PhD, Section Head of Molecular Pathology; Stan Hazen, MD, PhD, Chair of Cellular and Molecular Medicine; and Timothy Crone, MD, Medical Director of Enterprise Analytics.
  • Zeroing in on Disease: The Latest Tools in Risk Stratification and Early Detection. Dr. Eng joined Helmy Eltoukhy, PhD, Co-founder and Chief Executive Officer of Guardant Health; Dave McKee, President and Chief Executive Officer of Family Care Path; and Alan Wright, MD, Chief Medical Officer of Roche Diagnostics.

Wednesday’s keynote speaker was long-time GMI colleague Tom Frazier, PhD, Chief Scientific Officer of Autism Speaks. As part of his keynote address, Dr. Frazier interviewed GMI genetic counselor Allison Schreiber, MS, LGC, who played an important role in helping to identify a genetic component of his son’s autism diagnosis.

Dr. Tom Frazier and Allison Schreiber

Pictured above: Dr. Tom Frazier and Allison Schreiber

Thanks to Cleveland Clinic Innovations and all who worked to make this summit a successful learning and networking opportunity!


Cleveland Clinic Researchers Find Link Between Bacterial Imbalances and Breast Cancer

10/6/17 - Charis Eng, MD, PhD, along with co-senior author Stephen Grobmyer, MD, uncovered differences in the bacterial composition of breast tissue in healthy women compared to that of women with breast cancer. The findings were recently published in the journal Oncotarget. According to Dr. Eng, this study of the breast tissue, oral and urinary microbiomes in breast cancer is the first to examine both breast tissue and distant sites for bacterial differences in breast cancer.

“Our hope,” said Dr. Eng, “is to find a biomarker that would help us diagnose breast cancer quickly and easily. In our wildest dreams, we hope we can use microbiomics right before breast cancer forms, and then prevent cancer with probiotics or antibiotics.”

Breast cancer is the second most common cancer in women (after skin cancer) in the United States, where 1 in 8 women will develop the disease in their lifetimes.

To read the full press release, click here.


GMI Hosts 5th Annual Genetics Education Symposium

9/29/17 - The Genomic Medicine Institute’s (GMI) 5th annual Genetics Education Symposium entitled, “Genetics & Genomics: A Focus on Women’s Health” was held on Thursday, September 9th at the InterContinental Hotel and Conference Center in Cleveland, Ohio. This day-long symposium was attended by more than 200 healthcare professionals and students from a variety of organizations.

Picture of audience at Cleveland Clinic Genomic Medicine Institute educational symposium

The presentations focused on advances in the diagnosis, management, and treatment of genetic conditions in diseases affecting women. Presentations included: Genetics Primer & Clinical Updates by Linford Williams, MS, LGC; Genetics and Women’s Health: Seeing and Foreseeing the Ethical Challenges Ahead by Ruth Farrell, MD, MA; Preimplantation Genetic Screening and Diagnosis: What You Need to Know by Marissa Coleridge, MS, LGC; Evolution of Prenatal Genetic Screening and Testing: NIPT and Beyond by Jeff Chapa, MD, MBA; Promises and Pitfalls of Prenatal Whole Exome Sequencing by Amanda Kalan, MD; Fertility Preservation and Cancer: Survivors, Previvors, and the Newly Diagnosed by Rebecca Flyckt, MD; Improving Access to Cancer Genetics via Telegenetics by Ryan Noss, MS, LGC; Breast Cancer: Management of Moderate Penetrance Predisposition Genes by Holly Pederson, MD; Use of Hormonal and Non-hormonal Therapies in Breast Cancer Survivors and Women at High Risk for Breast/Gyn Cancers by Holly Thacker, MD; Addressing Commonly Asked Patient Questions about Genetics by Rebekah Moore, MS, LGC, Christina Rigelsky, MS, LGC and Allison Schreiber, MS, LGC; and a panel discussion on Genetic Testing Reimbursement featuring Bruce Rogen, MD, MPH and John Yao, MD, MBA, MPH, which was moderated by Daniel Sullivan, MD. 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.

Dr. Daniel Sullivan, Dr. Bruce Rogen, Dr. John Yao at Cleveland Clinic Genomic Medicine Institute education symposium

Pictured above from left to right: Dr. Daniel Sullivan, Dr. Bruce Rogen, Dr. John Yao

Marissa Coleridge at Cleveland Clinic's Genomic Medicine Institute education symposium

Pictured above: Marissa Coleridge

This year’s symposium 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 Jenn Lonzer, GMI’s Communication and Education Coordinator at

Dr. Holly Pederson, Dr. Holly Thacker, Dr. Charis Eng at Cleveland Clinic Genomic Medicine Institute  education symposium

Pictured above from left to right: Dr. Holly Pederson, Dr. Holly Thacker, Dr. Charis Eng


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.jpg11/22/16 - 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 AldredMicheala 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


(Precisely) Aiming Genomics at Cancer

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.

GMI Hosts 3rd Annual Genetics Education Symposium

Description: 099907_09-10-15_0086_TM.jpg

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.

Description: 099907_09-10-15_0290_TM.jpgThis 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”

Description: 099907_09-10-15_0167_TM.jpgDr. 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.


CPGH Honored with Best Full Member Abstract Award

Description: gmi:Dept:Dept Photos:GMI personnel photos:_GMI:Schreiber_A:allison.jpgThe 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!


GMI Celebrates Three Staff Promotions

David Serre Angela Ting Bin Zhang

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.


New Research Collaboration between GMI and CompanionDx™

Charis EngKevin HicksGMI 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.


Pauline Funchain Receives Conquer Cancer Foundation Award

Pauline FunchainCongratulations 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.”


Doctoral Excellence Award in Molecular Medicine Goes to Amanda Tilot

Amanda TlotGMI 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.


2015 Distinguished Service Award to Dr. Charis Eng

Charis Eng in ChicagoDr. 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 Sciences/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 Shares His Views on The Next Milestones for Personalized Medicine

RonRon 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.


Cleveland Clinic and Human Longevity Combine Efforts to Study the Genetics of Heart Disease

Description: ttp:// 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.”

Dr. Charis Eng on 19 Action News

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.