Neurogenetics: Genes & the Nervous System

By Emily Bryant, Erin McGinnis, Vera Shively and the Genetic Counseling Team at Lurie Children’s

Our genes provide instructions for the cells of our bodies to make the many products we need to grow and stay healthy. Some of these products include the nervous system and everything it takes to work properly.

What Is Neurogenetics?

Neurologic disorders affect the nervous system, which includes the brain, spinal cord, nerves, and muscles. Neurologic disorders can make it hard for people who have them to think, learn or move.

Genetics refers to our genes and chromosomes. They are important because they carry the DNA instructions our cells use to make products the body needs to grow and stay healthy. Sometimes genetic material contains changes in these DNA instructions that lead to physical and developmental issues. Some neurogenetic conditions can be passed down from parents to their children, while others happen for the first time in a child.

Advances in the field of genetics have helped researchers identify specific genes and chromosome locations that are involved in many neurologic disorders. The field of neurogenetics is rapidly evolving as more genetic causes are understood and more targeted treatments are discovered.

How Is Neurogenetics Helping Patients?

Neurogenetics may provide knowledge and insight into the causes and effects of you or your child’s health and/or developmental concerns. A deeper level of understanding guides researchers to develop better, more targeted treatments. For example, some changes in the SLC2A1 gene can cause seizures that can be well controlled on the ketogenic diet. Finding specific changes in SLC2A1 can help with a diagnosis and treatment plan for a patient with SCL2A1 related seizures.

Neurogenetics Grows at Lurie Children’s

Patients and families affected by rare (or undiagnosed) neurogenetic disorders will find support in the new Translational Neurogenetics Clinic at Lurie Children’s. The main goals of the clinic are to:

• Help patients understand and make decisions about genetic testing and assist in an accurate diagnosis of complex neurogenetic disorders
• Assist in confirmation of a suspected diagnosis, as well as management following a diagnosis
• Help patients and families navigate research opportunities
• Connect patients and families with advocacy and support groups

The multidisciplinary team currently includes pediatric neurologists and genetic counselors. Genetic counselors have specialized training in understanding and communicating how complex genetic information impacts human health and disease. Genetic counselors can help families in many ways, including reviewing benefits and limitations of genetic testing, helping families understand genetic test results, and connecting families to advocacy groups, research studies, and scientific experts. They can also counsel on how a condition may be either inherited or a brand new genetic change in the family, and its possible impact on other family members.

Learn more about the Genetic Counseling Team

Additional Resources

• NORD 
• American Association on Intellectual and Developmental Disabilities (aaidd) 
• Genetic Home Reference 

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