Chromosomal Abnormalities
Genetic conditions due to problems with one of the chromosomes—children with them tend to have developmental delays and mental and/or physical birth defects.
Medical Genetics
Leading edge science to diagnose and treat genetic conditions in you and your family
Medical genetics is a specialty that diagnoses and treats genetic disorders. Genetic disorders can affect many parts of your body. This can include your metabolism, connective tissue, brain function and the autoimmune and central nervous systems.
Some genetic disorders can be passed down from family member to family member. Some may arise due to spontaneous changes in your genes during fetal development or after exposure to toxins like alcohol during pregnancy.
These conditions may be detected via prenatal testing or during newborn screenings. Others may not become apparent until later in life.
Though most genetic disorders have no cure, knowing your diagnosis can help you understand what to expect. It can also help determine whether other family members may be affected.
At IU Health we pull together specialists from many different disciplines to weigh in on your individual genetic profile. If possible, we offer the most advanced treatment options. We support you and your family throughout your lifetime.
Diagnosis
Genetics experts at IU Health have special training in this area. They are able to identify difficult-to-diagnose and rare genetic 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.
Comprehensive care for complex cases
We treat some of the most complicated diagnoses known to medicine. No matter what your genetic disorder, we work closely with you on treatment regimens and collaborate with other specialists. These specialists include:
- Nutritionists
- Cardiologists
- Neurologists
- Oncologists
- Surgeons
- Speech therapists
- Occupational therapists
Metabolic disorders
Our biochemical geneticists use diets and treatment plans to manage metabolism disorders (disorders in which the body cannot properly turn food into energy).
These therapies improves your health and is likely to expand to treat other conditions.
Genetic cancer
While many genetic disorders are apparent during pregnancy or shortly after birth, others may not develop until later in life. Examples are Marfan syndrome or familial cancers including breast cancer.
Our Indiana Familial Cancer practice offers evaluation and counseling for many cancers. It's designed to assist you, your primary care physician and your oncologist in managing your life with a hereditary cancer.
Our geneticists and genetic counselors will assist in many steps, including:
- Determination of the risk of cancer
- Coordinating genetic testing
- Offering advanced prevention and treatment options to maintain your health
Genetic counseling
Our genetic counselors help families take steps to prevent inherited conditions when possible. We also prepare you 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. We'll also connect you with the resources you need.
Our Approach to Medical Genetics
Though most genetic disorders have no cure, knowing your diagnosis can help you understand what to expect. It can also help determine whether other family members may be affected.
At IU Health we pull together specialists from many different disciplines to weigh in on your individual genetic profile. If possible, we offer the most advanced treatment options. We support you and your family throughout your lifetime.
Diagnosis
Genetics experts at IU Health have special training in this area. They are able to identify difficult-to-diagnose and rare genetic 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.
Comprehensive care for complex cases
We treat some of the most complicated diagnoses known to medicine. No matter what your genetic disorder, we work closely with you on treatment regimens and collaborate with other specialists. These specialists include:
- Nutritionists
- Cardiologists
- Neurologists
- Oncologists
- Surgeons
- Speech therapists
- Occupational therapists
Metabolic disorders
Our biochemical geneticists use diets and treatment plans to manage metabolism disorders (disorders in which the body cannot properly turn food into energy).
These therapies improves your health and is likely to expand to treat other conditions.
Genetic cancer
While many genetic disorders are apparent during pregnancy or shortly after birth, others may not develop until later in life. Examples are Marfan syndrome or familial cancers including breast cancer.
Our Indiana Familial Cancer practice offers evaluation and counseling for many cancers. It's designed to assist you, your primary care physician and your oncologist in managing your life with a hereditary cancer.
Our geneticists and genetic counselors will assist in many steps, including:
- Determination of the risk of cancer
- Coordinating genetic testing
- Offering advanced prevention and treatment options to maintain your health
Genetic counseling
Our genetic counselors help families take steps to prevent inherited conditions when possible. We also prepare you 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. We'll also connect you with the resources you need.
We’re building the future of genetics. Through our partnership with IU 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. We're 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. They will continue to advance the study of genes and gene products and find new ways to diagnose and treat genetics disorders.
Why IU Health for Medical Genetics
We’re building the future of genetics. Through our partnership with IU 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. We're 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. They will continue to advance the study of genes and gene products and find new ways to diagnose and treat genetics disorders.
