devGenes: Genetic Study of Neurodevelopmental Conditions

We are currently recruiting participants with a variety of neurodevelopmental conditions, including:

  • Autism spectrum disorder
  • Developmental delay
  • Intellectual disability
  • Pediatric epilepsy

If you (or one of your family members) have been diagnosed with one or more of those conditions, you are eligible to participate in our research study! 
The study takes roughly 30-60 minutes and involves:

  • Basic information questionnaire
  • Digital scan of the hands
  • Picture of the face
  • Walking/balancing tasks
  • Saliva sample

Biological parents, regardless of affected status, are encouraged to participate as well. 
If your family is interested in participating, please email Natalie Pottschmidt at

SPARK: Simons Foundation Powering Autism Research for Knowledge


You’re invited to register with SPARK, a large, online research partnership that seeks to improve the lives of people with autism through research. The University of Iowa is one of a network of clinical sites—autism centers and research institutions—that SPARK has partnered with across the country.

The goal of SPARK is to accelerate autism research in order to gain a better understanding of causes and treatments for autism. By building a community of tens of thousands of individuals with autism and their biological family members who provide behavioral and genetic data, SPARK will be the largest autism research study to date.

By joining SPARK, you will be making invaluable contributions to advancing the understanding of autism.

You can register online here:

Registration takes about 20-30 minutes, and we'd love to have you onboard. As part of your participation in SPARK, we ask that you register and complete a few questionnaires online, and provide a saliva sample using a saliva collection kit that will be shipped directly to your home.

Together, we can improve lives by helping to accelerate research. SPARK sincerely appreciates your time, effort and participation in this landmark research initiative, and we look forward to learning more together!



Genetic Study of Language Disorders

Your DNA could help us better understand the genetics of language disorders!  We are currently recruiting participants who have been diagnosed with:

  • Language impairment
  • Expressive language disorder
  • Mixed receptive-expressive language disorder
  • Phonological/articulation disorder
  • Reading disorder
  • Dyslexia
  • Apraxia
  • Other developmental disorders of speech and language

Participation takes roughly 20 minutes and can be completed in the comfort of your own home.  We will send you a mailed kit containing:

  • Consent form
  • Basic information sheet
  • Saliva collection kit
  • Behavioral/medical history questionnaire
  • Prepaid return mailer

If you or your family member is interested in participating, please email Natalie Pottschmidt at

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. Where is your lab located? 

A. Our lab is located in BO30 Medical Laboratories, which is right next to the University of Iowa Hospital.  For directions to our lab please click here.

Q. When does my participation in this study end? 

A. The majority of your participation in this study ends after the initial enrollment contact.  However, we may send you surveys periodically in order to collect more information about you and/or your child’s development after your initial visit.  Your participation in these follow-up surveys is purely voluntary.

In addition, the conditions for enrolling as a participant in this study require that you agree to be open to contact regarding follow-up studies.  If you change your mind at any point after your participation, you can contact us and ask to be removed from our list of follow-up participants.

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 Natalie Pottschmidt at