The Slavotinek Lab has worked on a number of projects, including the two below.
Genomic Analysis of Microphthalmia, Anophthalmia and Coloboma
Microphthalmia, anophthalmia and coloboma (MAC) are highly important birth defects because of the lifelong effects of severely reduced vision. MAC can be caused by pathogenic sequence variants and copy number variants affecting transcription factors and other genes involved in eye development. Patients with MAC typically undergo genetic testing with microarrays, gene panels and exome sequencing, but a genetic etiology is not identified for many patients. A complete catalogue of the genomic variation underlying MAC is critical for optimizing patient care, facilitating future therapeutic trials and to provide novel information supporting research into the developmental biology of eye defects. We are using whole genome sequencing (WGS) and in vitro and in vivo functional studies to advance our understanding of the genomic architecture of MAC so that we can improve our understanding of eye development, generate rich resources for future investigations, and encourage collaborations between clinicians, developmental biologists and eye researchers. This work is funded by the National Eye Institute, National Institutes of Health.
- Alejandra de Alba Campomanes (University of California, San Francisco)
- Sergio Baranzini (University of California, San Francisco)
Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)
During her time at the University of California, San Francisco (UCSF), Anne Slavotinek, PhD, MBBS, was the principal investigator for the pediatric arm of the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS) project. P3EGS is part of the Clinical Sequencing Evidence-generating Research (CSER) Consortium. In this project, we used exome sequencing (ES) to study 529 pediatric patients referred due to a wide range of clinical indications, including developmental delays, intellectual disability, multiple congenital anomalies, seizures, neuromuscular, and metabolic conditions. P3EGS participants were recruited from ethnically diverse, underserved (US) and under-represented minority (URM) populations and the majority of our patients fulfilled at least one category for designation as an US and/or URM individual. Future work with this cohort is likely to focus on methodologies to resolve variants of uncertain significance in US and URM patients. This work was funded by the National Human Genome Research Institute and National Institutes of Health.
- Stephanie Htun (University of California, San Francisco)