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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)

Please select an option below.

Your Information

Please answer Yes or No to the following questions. (You refers to you or your family member as appropriate.)

Additional Information

Permission to contact agreement: By submitting this form, I acknowledge that I would like to be contacted about the Developmental Genomics Program: Investigating the causes of multiple congenital anomalies study and understand that submission of this form in no way obligates me to participate in this study. I understand that submitting this form does not guarantee participation in the research project.

We will contact you as soon as we can. Thank you for your patience.

If you have questions, please contact the study coordinator at (414) 955-7645.

Please type your full name at the bottom of this form and then type today’s date (MM/DD/YYYY).

Please ensure you receive an email confirming submission before closing this page. If you have not heard from us within 1 week, please reach out to SeminaGenetics@mcw.edu.

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

atan@mcw.edu

(414) 955-2049

 

Medical Education Coordinator

Ophth-Residency@mcw.edu

 

Associate Director of Development - Ophthalmology

Sarah Walker

sarawalker@mcw.edu

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

vewilliams@mcw.edu

(414) 955-7862

 

Advanced Ocular Imaging Program

aoip@mcw.edu

(414) 955-2647

 

Eye Institute Executive Director (Administrator)

Shannon Dreier

sdreier@mcw.edu

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