A gene for Niemann-Pick type C disease (NP-C) is essential. image courtesy of Jacek Topczewski, PhD

Epigenetic mechanisms rescue neural tube closure. C. Shekhar Mayanil, PhD

Developmental Biology

The Developmental Biology Program focuses on mechanisms of genetic fate in early human development.

We examine pattern formation, the process by which cells organize to form structures that develop into a normal body; stem cell biology; and allocation and assortment of cells in organ development.

Our scientists are exploring several key aspects of signal transduction, the method by which protein signals outside a cell cause changes in gene expression inside the cell nucleus. These signals are critical to normal development. Studying them allows us to uncover and understand the disturbance and disruptions in genes during development that may cause birth defects, cancer and other childhood diseases.

Impact:

The earliest markers of stem cell transition are identified. A team of researchers looking at steps in human embryonic stem cell (hESC) development discovered cellular changes that may represent the earliest markers of hESC transition to a tissue that lines the cavities and surfaces throughout the body. Their findings may be helpful in controlling the differentiation process, and will benefit the field of regenerative medicine.

A medical model for regenerating bladders using stem cells from a patient’s bone marrow has been developed. The research is especially relevant for pediatric patients suffering from abnormally developed bladders, but also represents a step towards new organ replacement therapies. Previously studies using animal models have translated poorly in clinical settings.

A gene for Niemann-Pick type C disease (NP-C) is essential. NP-C is a fatal genetic disease in which excessive amounts of cholesterol accumulate in the liver and spleen and excessive amounts of other lipids in the brain. A research group cloned the zebrafish equivalent of the NP-C gene and determined that the gene is required early for proper cell movements and cholesterol localization and later for cell survival.

Epigenetic mechanisms rescue neural tube closure. In an animal model that fails to show proper neural tube closure, resulting in spina bifida, a team demonstrated that folic acid rescued the proliferation potential of neural crest stem cells via epigenetic mechanisms.

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