Endowed Chair: Clinical Cytogenetics led by Diana Carrasco, M.D.

Cook Children's Clinical Genetics team serves patients with some of the most complex diagnoses including intellectual disability, neurologic illnesses such as cerebral palsy and seizures, birth defects, hearing loss, vision loss and disease courses that have no explanation. Our greatest challenge in Clinical Genetics remains solving unsolved cases. As many as 60% of the children we see in clinic remain without a diagnosis—a figure that represents one of the most underserved populations in pediatrics. Chromosomal abnormalities are major contributors to genetic disease. The detection of many of these anomalies remains elusive to standard cytogenetic testing technology, including a chromosomal microarray, exon level arrays and chromosome analyses. Optical genome mapping (OGM), one of the newest clinically available genetic tests, can detect nearly all types of chromosomal aberrations on a genome wide level. It represents a powerful tool in the quest to resolve diagnostic deadlocks and has the potential of replacing current standard cytogenetic testing. Our research in the Clinical Cytogenetics program applies OGM to undiagnosed renal, cardiovascular and immunologic cases—cohorts where OGM has never been studied. We seek to report on the diagnostic yield and impact on management of this technology. To achieve our goals, we are partnering with Nikhil Sahajpal, Ph.D., and his colleagues at the Greenwood Genetic Center, one of the best clinical genetic laboratories in the country. This program reflects the Cook Children’s Genetics Center’s commitment to caring for children with rare disease, advances the goals of our Precision Medicine program, and allows us to deliver on our Promise to improve the well-being of every child in our care.

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