Mini-Project 1- Consent Form .docx

Mini-Project 1- Consent Form .docx - Title Variants of the...

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Title: Variants of the PTCHD1 Gene Linked to Autism Spectrum Disorder Principal Investigator: Cathy Lee, M.D. Professor of Genetics University of Chicago Room 852, University of Chicago Medicine Clinic Telephone: 773-976-1457 Co-Investigators: Paul Shaffer, M.D. Associate Professor of Genetics University of Chicago Room 854, University of Chicago Medicine Clinic Telephone: 773-976-4352 Source of Support: Grey Laboratories, Inc. Department of Genetics, University of Chicago Medicine This Informed Consent Form has two sections: Informational Sheet Certificate of Consent A full copy of the Informed Consent Form will be given to you SECTION I: Informational Sheet Introduction & Purpose of the Research Autism spectrum disorders (ASDs) are neuropsychiatric conditions that have an effect on social and communication behavior, as well as restricted and repetitive thoughts. About one percent of the world's population has autism spectrum disorder and one percent of children within the United States have an onset of symptoms early on in their childhood that continue on during their course of life. The degree of impairment varies from person to person, but the affected individuals and their families often face social, educational, and occupational difficulties, for which the options of treatment are severely limited. Page 1 of 7 Participant’s Initials: ____________ Behavioral treatments are the predominant option but show little to no impact. There aren’t any pharmacologic treatments available that will decrease symptoms of Autism spectrum disorder.
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These outcomes reflect the limit of knowledge concerning the biological processes that drive the development of ATDs. Genetic studies have the ability to identify the biological factors of ASDs and other neuropsychiatric disorders. Recent studies have shown there is a linkage between ASDs and the gene known as PTCHD1 found in your DNA. You are being asked to participate in this study in order to obtain your DNA in order to analyze the gene PTCHD1 and any variations it may have. The information and data collected will be used to further influence the genetic findings in autism spectrum disorder if you chose to participate. Type of Research Intervention The research will include a diagnostic assessment, followed by two different genetic tests. The diagnostic assessment is conducted in order to be sure the DSM-V criteria is met for an autism spectrum disorder. If the criteria are not met, then the genetic tests will not be necessary. If they are, then a small blood sample will be taken from your arm, as well as a DNA sample from the tissue of your mouth with a cotton swab. After receiving your samples, we will then isolate the gene PTCHD1 in order to study its variance. Participant Selection We are inviting all individuals that have been already been diagnosed with an autism spectrum disorder or those who think they may have the disorder to participate in the research on the relation between the PTCHD1 gene and ASDs.
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  • Spring '18
  • Kevin Lee
  • DNA, Pervasive developmental disorder, research study, Asperger syndrome, autism spectrum

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