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Dr. Pengfei Liu's study


There is an IRB-approved study at Baylor College of Medicine led by Dr. Pengfei Liu that focuses on providing a comprehensive and precise diagnosis for the genetic condition of 17q12 in you or your family member. Participating involves collecting blood samples from you and your family member including your medical information. Genome sequencing will be performed on the samples collected. Analysis of the sequence data will be done to understand the cause of your genetic condition. If you are interested in study participation, please contact us at Please provide your full name, phone number, e-mail address, and good day and time for contact.

Enrollment requirements:

  • Individuals with the 17q12 deletions.

  • Individuals with the 17q12 duplication who have either renal, endocrine, or        reproductive system issues.



The genomic approach to Precision Medicine for Autism (PRISMA) project at Bradley Hospital, Hasbro Children’s Hospital, and Brown University is looking to understand how genetic information, specifically rare genetic changes, of people with autism and other neurodevelopmental and psychiatric conditions can inform the way they receive healthcare. To achieve this, we will be studying the medical and behavioral features of people with rare genetic changes. Although this is not a treatment study, we want to see how people’s genetic results could be used in the future when selecting medications, behavioral and educational recommendations, or to identify other medical conditions that may impact mental health. PRISMA is directed by Dr. Daniel Moreno De Luca who is a psychiatrist and researcher specialized in autism and genetics. We are enrolling individuals with autism or other neurodevelopmental or psychiatric conditions who have had diagnostic genetic testing that has shown an abnormal result.

Click here to read more  or connect at

17q12 Immunological Study 
J. Jenny Shin, M.D., Ph.D.

Dr. Jenny Shin M.D. Ph.D. is an allergy-immunologist, in the laboratory of Dr. Insoo Kang, M.D. (Director of Allergy and Immunology) at the Yale School of Medicine. Her research focuses on the immune system of patients with 17q12 deletion and duplication. Proper immune system function is critical in the defense against bacteria, viruses, parasites, allergy, and inflammation.  It is also critical for many other processes like the development and maintenance of the central nervous system, reproductive tract, and digestion. Dr. Shin hopes to understand any changes in function of the immune cells of 17q12 deletion/duplication patients, in relation to their clinical presentation. Participation is simple! You will only need to provide a detailed medical history and a blood sample. We are also looking for blood samples from unaffected children aged 4-18. If you or your child(ren) are interested in participating, please email us at and fill out this form. Please be sure to include your name, phone number, and an appropriate time for us to contact you. 

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G2MH Study


Geisinger, along with the University of Washington and Washington University in St. Louis, is offering a new opportunity for families with 17q12! In the Genes 2 Mental Health (G2MH) study, eligible families can participate from home by filling out online surveys and completing a telehealth visit. Families who complete the study will be compensated. If you are interested in learning more, contact our study coordinator, Karahlyn Holdren, at or


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SPARK is the largest, nationwide online research study for individuals with autism and their families. Geisinger ADMI is one of over 20 clinics and research centers across the country helping to spread the word to families about this project. We need your help to speed up research and advance our understanding of autism!


Join SPARK today, at no cost to you or your family, right from home. If you participate, you will be asked to share information about medical and family history, as well as provide a saliva sample for genetic studies. As participants, you and your family will also be the first to hear about new autism studies across the country. You can sign up for SPARK with Geisinger today by calling 570-522-9402 or emailing and referencing “SPARK”. Together, we can spark a better future for individuals and their families affected by autism.

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