Our genetic make-up is responsible for many of the physical characteristics we are born with,including eye, hair and skin color. Genes will also determine how we are able to metabolize certain nutrients and many of the other characteristics we are destined to have as adults, such as height, handedness and early baldness, for example. Although there is still much we dont know about inherited diseases, we do know that genetics are also responsible for many serious genetic disorders, including genetic birth defects,intellectual disability, cleft lip and palate, developmental abnormalities and neurologic disorders.

The University Hospitals Center for Human Genetics specializes in evaluation, diagnosis, treatment and counseling for individuals of all ages with genetic and metabolic disorders.

The center, an integral part of the Department of Genetics and Genome Sciences of the School of Medicine, is a critical link between clinicians of University Hospitals and researchers of Case Western Reserve University. Together, a team of experts that includes medical geneticists, biochemical geneticists, clinical laboratory geneticists, genetic counselors and research human geneticists serve patients with a variety of conditions. Examples include children with developmental abnormalities and metabolic derangements, pregnant women who have an abnormality detected on prenatal testing and adults with early onset cancer. Some genetic diseases are not yet treatable; therefore, we ensure that patients and their family are carefully educated about prognosis, complications that may occur and the best therapy currently available.

This team of geneticists is supported by state-of-the-art technology in the centers laboratories that focus on clinical cytogenetics, molecular and biochemical diagnostics and prenatal screening.

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The Cancer Genetics Program at University Hospitals brings together experts from the Center for Human Genetics and University Hospitals Seidman Cancer Center to help families with a history of breast, colon or pediatric cancers. The genetics team includes a clinical geneticist who specializes in cancer genetics, as well as an expert staff of cytogeneticists, geneticists, counselors, physicians, and researchers.

The program provides families with:

Testing is also available for individuals who have been diagnosed with cancer and who have a strong family history of the disease. Results can help physicians and their patients learn if other cancers are likely to develop, enabling them to plan a stringent screening and prevention program.

Currently, the Center offers testing for:

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The Cancer Genetics Program | University Hospitals

Cancer research not only advances the state-of-the-art in cancer treatment, it also provides a source of hope and help to patients for whom other treatments have failed. As a member of the Case Comprehensive Cancer Center, University Hospitals Seidman Cancer Center is involved in the discovery of new forms of prevention, diagnosis and treatment. UH Seidman Cancer Center research efforts are focused on "developmental therapeutics" quickly translating scientific findings into the highest quality patient care. Thus, UH Seidman Cancer Center patients are among the first in the nation to benefit from the newest investigative cancer treatmentsmany of which are not available outside a research setting.

Clinical trials are research studies that are used to find better ways to diagnose and treat individuals with cancer. UH Seidman Cancer Center offers more than 300 clinical trialsin most cancer diagnoses and stages of disease.

The Cancer Genetics Programat University Hospitals brings together experts from the Center for Human Genetics and University Hospitals Seidman Cancer Center to help families with a history of breast, colon or pediatric cancers.

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The Center for Cardiovascular Genetics at University Hospitals Harrington Heart & Vascular Institute specializes in evaluation, treatment, diagnosis and genetic counseling for individuals of all ages and their family members. The goal of the Center for Cardiovascular Genetics is to identify and treat patients with inherited cardiac conditions, those at risk of developing an inherited cardiac condition, and those who are at risk for sudden cardiac death.

Although many cardiac conditions result from diet, smoking, lack of exercise, high cholesterol, or other medical conditions such as diabetes, some cardiac conditions are the result of a genetic abnormality. These genetic abnormalities can result in problems with the hearts muscle function (cardiomyopathy) or problems with the hearts electrical system, which may put patients at risk for sudden cardiac death.

A genetic abnormality can be inherited and passed down through families. Family members with the same genetic abnormality may present with a variable degree of symptoms. Some patients may have no symptoms and others will have significant symptoms.

Inherited cardiac conditions which may put patients at risk for sudden cardiac death or arrest (SCD/A) include:

Comprising physicians specializing in cardiomyopathy, congestive heart failure, cardiac electrophysiology, medical genetics and a certified genetic counselor, the Center for Cardiovascular Genetics is designed to identify patients with inherited conditions or genetically determined cardiac disease. Diagnosis of an inherited condition can be made using a combination of cardiac and genetic testing.

Consultation with a medical geneticist and certified genetic counselor may be recommended to determine if genetic testing will aid in the diagnosis, direct treatment strategy, and identify other at-risk or affected family members.

As an outpatient clinic, patients may meet and be evaluated by an electrophysiologist (a doctor specializing in heart rhythm disorders), a cardiologist specializing in cardiomyopathy, and a registered nurse.

Cardiac evaluation will include a thorough history and physical examination. Sometimes additional testing may be recommended in order to establish the patients diagnosis or risk. This may include one or more of the following:

Once a diagnosis is made, the patient will meet with the medical geneticist and the genetic counselor to discuss whether genetic testing would benefit them or other members of their family. Genetic testing is done by providing a sample of blood that will be sent to a laboratory where the genetic material will be examined. The genetic analysis will look for abnormal changes in genetic information that are responsible for the inherited cardiac disease.

Once the genetic testing is complete, the patient will return to the Center for Cardiovascular Genetics where the genetic results will be discussed with the geneticist and the genetic counselor. They will explain what the findings mean for the patient and his or her family members. They can also help patients discuss this information with other family members.

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The Center for Human Genetics laboratory is housed instate-of-the-art facilities and has offered genetic screening and diagnostic testing for numerous genetic conditions for more than 25 years.

The laboratory combines clinical practice with genetic research, allowing it to offer patients advanced, innovative diagnostic testing. In addition, as an assurance of its quality, the laboratory is certified by the College of American Pathologists (CAP) and approved by the Clinical Laboratory Improvement Amendments (CLIA). Our faculty includes one board-certified clinical cytogeneticist and one board-certified clinical molecular geneticist/clinical geneticist.

Contact UsW.O. Walker Center6th Floor 10524 Euclid AvenueCleveland, OH 44106216-983-1134

CIDEM is a specialized laboratory with focus on disorders of mitochondrial function. These disorders include defects of pyruvate metabolism, the Krebs cycle, fatty acid oxidation, and the electron transport chain. Clinical conditions associated with these disorders include major disabilities affecting the central nervous system, skeletal muscle, heart and other organs. The goal of CIDEM is to provide specialized diagnostic laboratory services on a clinical and/or research basis to facilitate diagnosis and treatment of patients affected with such disorders.

The laboratory is certified by the Clinical Laboratory Improvement Amendments (CLIA). Our faculty is board-certified in clinical biochemical genetics.

Contact UsWearn Bldg., Room 64911100 Euclid AveCleveland, OH 44106216-844-1286

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Genetic Screenings and Diagnostic Testing | Center for ...