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Research

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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 precisiongenome@bcm.edu. 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.

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PRISMA

 

​We are delighted to share some exciting updates from our PRISMA group – our team moved to the University of Alberta in Edmonton as part of Dr. Daniel Moreno De Luca’s appointment as the inaugural CASA Research Chair! This move translates into exciting opportunities to double down on our efforts to work with the 17q12 CNV community as we aim to understand how this genetic change may lead to neuropsychiatric and medical conditions, and design precision medicine interventions informed by genetics for people who need them. We welcome the participation of anyone with 17q12 CNVs, with our without any psychiatric diagnoses. If you have already joined our previous US-based study, please reach out to us as we’d love for you to continue participating in this effort, which is considered a new study here in Canada (which means we would need a new consent from you). Moreover, we are delighted to share that this study can now be carried entirely in Spanish, aligned with our goal of obtaining the broadest and most diverse perspectives from our participants. Please check out our study flyer, and contact us at prisma@ualberta.com and visit www.precisionmedicineinautism.org to learn more.

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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 immunodeficiency@yale.edu 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 keholdren@geisinger.edu or

570-522-6295.

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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.

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