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The Michaelson Lab in the UI Department of Psychiatry is recruiting participants to take part in a genetic research study of neurodevelopmental conditions. If you or your child has been diagnosed with autism, pediatric epilepsy, developmental delay, intellectual disability, or language impairment, you and/or your child are eligible to participate. Family members, regardless of affected status, are also eligible. Participation would involve donating a sample of saliva, completing a basic information questionnaire, completing a walking/balancing task, and having a photograph taken of your face and hands. For more information, contact Brooke McKenna at firstname.lastname@example.org. Frequently Asked Questions: Q. What is genomic research? A. Genomics is the study of a person’s genes, and how those genes interact with each other as well as with the person’s environment. The goal of genomic research is to determine how those interactions are related to complex diseases and disorders that are affected by both genetic and environmental factors. Q. What is the role of genetics in neurodevelopmental conditions? A. Multiple factors play a role in the development of autism and other neurodevelopmental conditions, but genetics appear to have the greatest effect. For example, less than 2% of children in the US have been diagnosed with autism, but if your sibling has autism then you have a ~20% chance of developing autism. If your fraternal twin has autism then you have a ~35% chance, and if your identical twin has autism then you have a ~70% chance. The influence of genetics in these neurodevelopmental conditions is clear, but the exact details are in the process of being determined. Q. How long will the study take? A. The study should take between 30-60 minutes. Q. Where do I go to participate? A. The study can be conducted at your child’s clinic while you wait for an appointment, after you have finished an appointment, or at a separate scheduled time. In certain circumstances, we are also willing to come to your home.
If you schedule an appointment at our lab location, click here for directions.Q. When does my participation in this study end? A. In practical terms your participation in this study ends after the initial enrollment contact. However, the conditions for enrolling as a participant in this study require that you agree to be open to contact regarding follow-up studies. Any follow-up study will have its own consent procedure, and you may choose not to participate in them. Q. Can I participate even if I don't have any of these conditions? A. Yes. We are especially interested in unaffected family members and relatives of individuals who have any of the neurodevelopmental conditions mentioned above. Q. I don't have any of these conditions, but my child does. Why do you want my DNA and how could this be genetic? A. Sometimes a random mutation will occur in either the father's sperm or the mother's egg, and consequently the child may carry a change to their genetic code that neither the father nor the mother experienced as part of their own development. It is vital to have the DNA of parents as a point of reference when looking for genetic causes of these conditions. In other cases, the parents may have genetic differences that do indeed contribute to the condition observed in their child, but they might not show symptoms themselves because they also have other protective factors in their genomes. Part of our research interest is in better understanding why genetic risk factors manifest themselves clinically in some people but not in others. Q. Is compensation provided? A. Children will be offered a small prize at the end of the study. Q. Is this a way for me to get my genome sequenced for free? Will I get my results back? A. If we find a genetic variant that has substantial evidence that suggests a role in the conditions mentioned above, we will contact you regarding participation in follow-up studies. We will not return genetic results that do not have a strong connection to the conditions investigated in this study. Q. Why are you taking a photograph of my face? A. The development of the brain and the development of the skull and face are linked. Many developmental conditions have characteristic facial features, and some of these are too subtle to detect by eye. We use the facial photograph to extract measurements that we can relate to both the diagnosed condition and to the genetic variants we find. For more information, contact Brooke McKenna at email@example.com.
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