Research
The primary interest of our lab is to study the molecular basis of genetic syndromes, and apply discoveries from genetic syndromes to common diseases. Currently, our lab is focusing on the following areas.
1. To study the role of TBX3 in breast cancer. TBX3 is also a T-box transcription factor. Mutation of TBX3 causes Ulnar-Mammary syndrome characterized by hypoplasia and absence of the mammary gland. Oveexpression of TBX3 plays an important role in breast cancer. To study the role of TBX3 in breast cancer, we created an animal model, and analyzed TBX3 expression in human breast cancer tissue. By working with animal and breast cancer tissue, our research aims to optimize the clinical relevance of our work.
Roles of TBX3 and TBX3+2a on Senescence of Mouse Embryo Fibroblast Cells
2. To identify the disease-causing gene associated with noncompaction of the ventricular myocardium (spongy heart), we are studying a family with balanced translocation with this condition, and are also performing a linkage study for a large family with this disease.
Autosomal Dominant INVM
3. The intracellular pathway to study TBX5. TBX5 is a T-box transcription factor. Mutations of TBX5 cause Holt-Oram syndrome characterized by congenital heart diseases and limb anomalies. By studying the intracellular network of TBX5, including the upstream transcription factor that controls TBX5 expression cofactor that interacts with TBX5 and downstream target whose genetic regulation is dependent on TBX5, we anticipate identifying many genes associated with congenital heart disease. Congenital heart disease is a most common malformation in humans, and contributes significantly to the mobility and mortality in pediatric populations.
Mutations of TBX5 cause Holt-Oram Syndrome
4. The Genetic basis of optic atrophy. Two larger kingdoms were identified with autosomal dominant inherited optic atrophy. We are performing linkage analysis and candidate gene mutation analysis to elucidate the genetic cause of this condition.
Optic Atrophy