ϰϲͼ Ophthalmology and Visual Sciences Research Study - Developmental Genomics Program for Multiple Congenital Anomalies
Purpose of the study:
The goal of this study is to identify genetic causes of multiple congenital anomaly (MCA) syndromes including identification of new genes important in early development.
What conditions qualify for this study?
To qualify for this study, you/your child must have congenital anomalies in two or more unrelated systems. Congenital anomaly refers to differences in the way a part of the body developed before birth.
What is involved in our research?
We will collect a saliva or blood sample for genetic testing from the affected person and family members (if possible).
Enrollment can be completed in-person or remotely via a phone/Zoom call. Enrollment takes approximately 20-30 minutes. If a genetic cause is identified, you will be informed. There is no cost to participate.
Compensation:
Participants will not be compensated for this project.
You may be eligible to participate if you meet the following criteria:
- You or a family member are affected by a multiple congenital anomaly syndrome.
- You live in the United States or Canada.
More information:
Contact:
seminagenetics@mcw.edu
(414) 955-7645
IRB Approval:
PRO00048186 (Initial study approval 11/13/2023)
Contact Ophthalmology
For patient care inquires, call us at (414) 955-2020 or use MyChart. Email is for research and education inquiries only.
Eye Institute Location
925 N. 87th St.
Milwaukee, WI 53226
Appointments
(414) 955-2020
(414) 955-6166 (fax)
Continuing Medical Education
Amanda Tan
(414) 955-2049
Medical Education Coordinator
Associate Director of Development - Ophthalmology
Sarah Walker
Refer to Us - Consultation requests
Patient Referral Form (PDF)
Fax to (414) 955-0136
Emergent Requests
Within 48 hours call
(414) 955-2020
Research
Vesper Williams
(414) 955-7862
Advanced Ocular Imaging Program
(414) 955-2647
Eye Institute Executive Director (Administrator)
Shannon Dreier