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Ophthalmology and Visual Sciences

Genomics, Genetics and Epigenetics Laboratory

The Genomics, Genetics and Epigenetics Laboratory focuses on identifying genetic and epigenetic factors contributing to human disease through analysis of samples from affected individuals and modeling in zebrafish and human cells. We are actively pursuing the identification of novel genetic factors involved in human disorders. Dr. Elena Semina has a long-standing interest in the mechanisms of ocular disorders, their genetic characterization, and development of novel approaches to improve diagnosis and clinical management of these conditions. Utilizing the expertise developed in ocular conditions, her laboratory has expanded to include the study of multiple congenital anomaly syndromes.
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Research Areas

Genetic studies of Human Ocular Disorders

Ocular development is a complex process requiring carefully orchestrated differentiation of cells. Study of the genetic causes of pediatric/early onset conditions provides important insight into the mechanisms of normal development and disease. For affected families, identification of a genetic cause provides more accurate diagnosis and medical management.

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Developmental Genomics Program

Many genes important in early development are active in many parts of the body. Disruption of one of these genes can cause multiple congenital anomaly (MCA) syndromes. The current diagnosis rate for exome sequencing in MCA syndromes varies from 15-50% in different settings, indicating that additional causes remain to be identified. Through analysis of samples from affected families as well as work in zebrafish and iPSC cell lines, we aim to expand understanding of known developmental genes and identify new genes important in early development.

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Meet Our Team

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Elena Semina, PhD

Marjorie and Joseph Heil Professor of Ophthalmology & Visual Sciences; Professor, Pediatrics; Professor, Cell Biology, Neurobiology and Anatomy

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Isabelle Banke, BS

Clinical Research Coordinator II

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Kailey Frank, BS

Research Technologist II

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Megan Fischer

G2 Student

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Justin Freestone

Graduate Student

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Linda Reis, MS, LCGC

Program Manager; Adjunct Instructor

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Maria R. Replogle, PhD

Research Scientist I

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Sarah Seese, PhD

Research Scientist I

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Elena A. Sorokina, MS

Research Scientist I

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Samuel Thompson

Research Technologist III

Get Involved

 

Support the Genomics, Genetics, and Epigenetics (GGE) Laboratory


The GGE Laboratory could not exist without the generosity and support of federal agencies and individual donors. Funds donated to the program are used to acquire new equipment and research consumables, to provide clinically confirmed results back to participants, to enable the presentation of our research findings at scientific meetings and to fund positions for support staff. Please contact SeminaGenetics@mcw.edu with have any questions. If you are interested in supporting our program at any level please click below, select “Other” from the drop-down menu and indicate ‘Elena Semina’ to donate securely online.

Donate to the GGE Lab

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Join our studies

Enrollment in our studies is open to individuals affected with relevant conditions living in the United States or Canada. We are able to enroll in-person or remotely via a phone/Zoom call with samples collected at home.
Genetic Studies of Human Ocular Disorders
Developmental Genomics Program

Feedback From Our Families

Having a confirmed diagnosis has been wonderful. I can say this is what my child has and this is how we can help him.

GGE Lab Study Participant

"Very appreciative to have been included. Also, very happy with the professionalism of the staff of researchers and the quick and personal responses"

GGE Lab Study Participant

"Relief. While the number of individuals identified with this syndrome is incredibly small, the characteristics or potential other issues are minimal. The nagging worry that something may be seriously wrong and just was not identified yet is gone."

GGE Lab Study Participant

"I am happy our genetic cause has been identified so now more families can be helped."

GGE Lab Study Participant

Recent Publications

Publications of Elena V. Semina PhD from the Faculty Collaboration Database

Contact Us

Genomics, Genetics, and Epigenetics (GGE) Laboratory
(414) 955-7645
seminagenetics@mcw.edu


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