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Genetic, Birth Defects & Metabolic Treatment Programs

The Division of Genetics, Birth Defects and Metabolism has developed specialized programs to treat certain conditions in the most comprehensive way possible. Browse our list of programs to learn more about the expert-led initiatives that can help treat your child.

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Cancer Predisposition Program

Lurie Children’s Cancer Predisposition Program provides comprehensive genetic counseling and testing services to pediatric oncology patients and families at risk of hereditary cancer syndromes.

Connective Tissue Disorders Program

Lurie Children’s Connective Tissue Disorder Program provides comprehensive care and genetic counseling to more than 200 patients with disorders of the connective tissue, such as Marfan syndrome.

Genetic Counselors & Genetic Counseling

Lurie Children's Genetic Counselors help families with genetic conditions by providing education, support, and advocacy.

Leukodystrophy Care Program

Lurie Children's Leukodystrophy Care Program is a multidisciplinary program providing the best possible comprehensive care to patients with leukodystrophies and their families at every stage of their disease.

Mucopolysaccharidoses & Mucolipidoses Treatment Program​

Lurie Children's Mucopolysaccharidoses and Mucolipidoses Treatment Program provides comprehensive care and assists patients and families in the management of these complex conditions.

Neurofibromatosis Program

Lurie Children's Neurofibromatosis Program brings together a team of ophthalmologists, orthopaedic surgeons, neurosurgeons and oncologists, seeing more than 300 patients with neurofibromatosis a year.

Pediatric Thyroid Program

Lurie Children’s Pediatric Thyroid Program provides care and treatment for babies through young adults with thyroid problems and diseases. Learn more.

RASopathy Program

RASopathies are a group of genetic conditions so named because they are caused by problems in the RAS pathway . In living things, a pathway is a series of actions between chemical messengers that can lead to a specific change or response in that cell. The RAS pathway provides a way for the cells of our body to communicate that is essential to...