Research

RDoC

The purpose of this study is to investigate how and why people with the same genetic condition are different from one another. Children and adults with the 17q12 deletions and duplications have many things in common, but they do not all share the same strengths and challenges. Researchers at Geisinger ADMI are partnering with individuals living with 17q12 deletions and duplication and their biological family members to participate in online surveys, in-person studies, and saliva collection for genetic studies. Online surveys ask questions about social skills, medical history, and behaviors. In-person studies may involve learning tasks and memory tasks. All 17q12 deletion and duplication families may begin participating any time from home. Please email ADMIstudies@geisinger.edu and reference “17q12 RDoC study” to learn more and sign up!

SPARK

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 ADMIstudies@geisinger.edu and referencing “SPARK”. Together, we can spark a better future for individuals and their families affected by autism.

Dr. Pengfei Liu's study

Dr. Pengfei Liu’s research group at Baylor College of Medicine is conducting research to understand what determines the wide phenotypic variability among individuals with the 17q12 deletion/duplication. In other words, why do some individuals with the deletion/duplication develop specific medical problems, where as others with the same deletions/duplications do not have (or have different severity of) the same symptoms. We will perform whole genome sequencing analysis to decipher the disease variability. Understanding these questions will help us and future patients to predict disease outcome in a more precise way. Our research results may also guide researchers regarding disease management and potential therapy. 

 

Enrollment requirements: 

  1. Individuals with the 17q12 deletions. 

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

This study is not accepting inquiries due to funding at this time.  We will keep you posted.

PRISMA

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. 

Yale Immunology Study
J. Jenny Shin, M.D., Ph.D.

Dr. Shin is an allergy-immunologist at Yale University School of Medicine. Her research focuses on studying immune system of patients with 17q12 deletion/duplication. The immune system is not only critical for protecting us from infections and allergies but also essential for developing and maintaining the homeostasis of metabolism and, central nervous and reproductive systems
in our body. Therefore, Dr. Shin is studying the immune system of these patients in relation to their clinical presentations and genetic defects in the laboratory of Dr. Insoo Kang, M.D. (Director of Allergy and Immunology at Yale University School of Medicine). If you are interested in participating in this research study, please contact Dr. Shin at immunodeficiency@yale.edu.