Medical geneticists specialize in diagnosing and treating genetic disorders, which include rare conditions often detected during newborn screening. These disorders may affect many parts of the body, including metabolism (how the body breaks down sugar and fats), connective tissue, brain functions, and the autoimmune and central nervous systems. Many causes may be at play, including family history, changes in genes and exposures to toxins (such as alcohol) during pregnancy.

Our expert geneticists have specialized training and are highly skilled at identifying these often difficult-to-diagnose and unusual conditions using advanced testing methods. Techniques such as DNA sequencing, whole genome studies, biochemical assays and chromosomal analysis allow us to pinpoint problems with specific genes. We look for specific gene mutations or the products of mutated genes tied to known genetic disorders. We also study newly identified mutations not yet linked to an identified condition.

We manage some of the most complicated patients known to medicine, including those with Glycogen Storage diseases. We work closely with you on treatment regimens and participate in your care with other pediatric and adult specialists, including nutritionists, cardiologists, neurologists, oncologists, surgeons, and speech and occupational therapists.

Our biochemical geneticists use unique and individualized diets to treat inborn errors of metabolism (disorders in which the body cannot properly turn food into energy). Infusions and advanced biologics provide specialized proteins or other nutrients to replace what is missing. The successful use of these therapies improves the health of our patients and is likely to expand to treat other conditions.

While many genetic disorders are apparent during pregnancy or shortly after birth, others may not develop until later in life, such as Marfan syndrome, or familial cancers including breast cancer. Our Indiana Familial Cancer Clinic offers evaluation and counseling for many cancers designed to assist you, your physician and your oncologist in managing your life with a hereditary cancer. Our geneticists and genetic counselors will assist in the determination of the risk of cancer, coordinate genetic testing, and offer advanced prevention and treatment options to help you maintain your health.

Our genetic counselors help families take steps to prevent inherited conditions when possible and prepare for the care of a child with an inherited condition. We work closely with families to better understand what a specific condition means for you and your children. We strive to answer all of your questions as completely as possible and connect you with the resources you need.

Though most genetic disorders have no cure, at Indiana University Health we collaborate with a variety of physicians to manage your condition and offer the most advanced treatment options. We use a multidisciplinary approach to meet your individual needs and support you throughout the diagnosis and treatment process, and your lifetime.

Select a Medical Genetics condition below to access information from our Health Library as well as how IU Health can help.

Through our partnership with Indiana University School of Medicine, our geneticists stay on the forefront of medicine by conducting research and clinical trials into genetic disorders. Our experts are studying the role genes play in conditions such as chromosomal abnormalities, familial cancers and neurodegenerative disorders and exploring new treatments through research and clinical trials in gene therapy.

We also educate the next generation of geneticists through masters, doctorate and medical doctorate education programs. These students will become genetic counselors, researchers and physicians who will continue to advance the study of genes and gene products and find new ways to diagnose and treat genetics disorders.

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Medical Genetics | IU Health