Samuel Rowbotham, PhD

Research Project:
Harnessing Genetics and Epigenetics to Combat Pulmonary Hypoplasia

Grant Awarded:

Catalyst Award

Research Topics:

basic biologic mechanisms
gene expression transcription
surgery

Research Disease:

bronchopulmonary dysplasia

Underdeveloped lungs are among the leading causes of death of newborn infants. One lung disease where this occurs and is caused by gene mutations is congenital diaphragmatic hernia (CDH). Some of the genes which are mutated in CDH are active in particularly important cells known as stem cells. We will study two of those genes, called KMT2D and KDM6A, and test how they work in lung stem cells, which are essential for the growth and development of the lungs. We will use mice where we can delete these genes just in certain lung cells, as well as lung stem cells that have been derived from CDH patients and those without lung disease. By learning why lung stem cells need these genes we can go on to design and evaluate new treatments that will stimulate the stem cells of underdeveloped lungs to grow and mature them. This would have a wide impact on many infants and children suffering from poorly developed lungs.

Page last updated: October 3, 2023

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