Genetics
The Division of Genetics academic providers engage in clinical research and provide health care services at the Norton Children's Medical Group - Genetics Center located in the Novak Center for Children's Health in Louisville, Kentucky. Services provided are center-based and outreach diagnostic evaluation and treatments for infants, children, and adults with, or at risk for, genetic disorders.
The University of Louisville and Norton Children’s Genetics providers maintain national, state, and local prominence through their many unique clinical and diagnostic programs, research contributions, presentations, and teaching opportunities.
At the Genetics Center children are evaluated by clinical geneticists for a variety of reasons, including the presence of birth defects, developmental delay, intellectual disabilities, autism spectrum disorders, failure to thrive, or a suspected genetic condition. All babies born in Kentucky receive genetic testing after birth screening for 55+ conditions. If a child tests positive for a condition or the results are unclear, follow-up testing will be ordered.
The University of Louisville and Norton Children’s Genetics team coordinates follow-up testing and any needed specialist appointments for newborns with abnormal or inconclusive screening results.
The clinical genetics team also provide long-term follow-up for children with known or suspected genetic conditions. For example, comprehensive care of children with inborn errors of metabolism is provided through medical and dietary management and enzyme infusions.
Medical genetics evaluations are also provided to adults with concerns regarding various genetic conditions, including connective tissue disorders, neurological conditions, metabolic diseases, and lysosomal storage disorders.
Division of Genetics
Academic Office:
Patricia Fadel, Administrative Assistant
Kosair Charities Pediatrics Center
571 S. Floyd Street, Suite 200, Louisville, KY 40202
502-852-9198
Clinical Outpatient Office:
Norton Children's Medical Group - Developmental & Behavioral Pediatrics
Novak Center for Children's Health
411 E. Chestnut Street, Level 2, Louisville, KY 40202
Faculty
Joseph Hersh, MD
Professor of Pediatrics
Division Chief, Genetics
Medical Director, Cytogenetics Lab
Professor of Pediatrics
Medical Director - Genetics
Licensed Genetic Counselor
Assistant Professor of Pediatrics
Manager of Genetic Services, Norton Children's Genetics Group
Kimberly McDonald, MD
Associate Professor of Pediatrics
Assistant Professor of Pediatrics
Clinical Metabolic Nutritionist
Diagnostic Evaluation and Treatment of Genetic Disorders
The Norton Children’s Medical Group – Genetics Center provides care for children and adults with a wide range of genetic conditions. Patients are evaluated by clinical geneticists and genetic nurse practitioner.
Personalized treatment plans are developed for each child’s or adult’s diagnosis and needs. The multidisciplinary genetics team consists of medical geneticists, nurse practitioner, genetic counselors, metabolic nutritionists, social worker, and coordinator for the newborn screening program.
Genetic Testing
The Norton Children’s Medical Group – Genetics Center provides a large variety of genetic testing, depending on a diagnosis or suspected condition such as chromosome analysis or chromosome microarray analysis, various metabolic studies, whole exome/genome sequencing and imaging studies for children with multiple congenital anomalies, developmental delay, neurodiversity, autism spectrum disorder, or when the etiology is uncertain.
Genetic Counseling
Genetic counseling assists individuals and families in understanding information about birth defects or genetic disorders. This includes educating patients and their care team about patterns of inheritance, recurrence risks, natural history of diseases, genetic testing and planning options. Patients are connected with appropriate resources, such as support groups or specific types of medical clinics, locally and nationally.
Specialty Programs
- Neurofibromatosis Clinic (in coordination with pediatric ophthalmology)
- Neurogenetics Clinic (in coordination with child neurology)
- Prenatal Clinic (in coordination with maternal fetal medicine)
- Metabolic Disorders and Nutrition Clinic
- Huntington Disease Clinic
- Fetal Alcohol Spectrum Disorders Clinic
- Fragile X and Related Disorders Clinic
- Connective Tissue Disorder Service
Metabolic Nutrition Services
The Metabolic Nutrition Services provides medical nutrition therapy to patients in several specialty areas of pediatrics service lines at Norton Children's Medical Group. The pediatric nutritionist sees patients with cardiac, cancer, and blood disorder diagnoses, as well as several other medical conditions. Our metabolic nutritionists follow genetics patients with inherited metabolic disorders. We are also a part of the interdisciplinary Feeding Disorders Program.
Other Areas of Expertise
The Genetics Center was established to help children who have special needs realize their full potential. Specialists also provide in hospital consultations, outreach genetic services across Western Kentucky together with health management, family support and resources for many recognizable conditions, a few which includes:
- Fragile X syndrome, Down syndrome, Williams syndrome, Rubinstein-Taybi syndrome, Kabuki syndrome, Smith-Lemli Opitz syndrome and Russell Silver syndrome.
- Inborn errors of metabolism identified on newborn screening, including fatty acid oxidation disorders, lysosomal storage diseases (adults and children) and amino acid, organic acid and urea cycle disorders.
- Dysmorphic features/craniofacial abnormalities suggestive of a possible syndrome
- Growth differences with concern for a syndrome
- Genetic testing abnormalities
- Developmental delay/Intellectual disability and Autism Spectrum disorders to determine the etiology or risk factors for other family members
- Chromosome abnormalities
- Skeletal dysplasias
- Connective tissue disorders, such as Marfan syndrome and Ehlers Danlos syndrome
- Adverse effects from Teratogen exposure in utero
- Prenatal abnormalities
- Neurocutaneous disorders such as, Neurofibromatosis1 & Tuberous Sclerosis complex
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