About Dr. Carvalho
As a student, I was deeply fascinated by human genetics and how the pieces — the cell biology and the DNA that influence human development – come together to create a healthy body or one affected by disease.
The mysteries that captivate me are why is it that one little change of DNA can have such a dramatic impact on human life, leading to cancer or severe birth defects? Why can the opposite also hold true, when very large alterations in genes produce no impact whatsoever? And most importantly, is there a way to know which variants are relevant so we can block the ones that result in disease and disability?
I am fortunate that my research into the causes of severe genetic diseases allows me to work closely with patients, families, physicians and scientists anywhere around the globe. By uncovering the causes of these diseases, I hope I can help them by promoting awareness about the diseases and diagnosis, learn more about the biological mechanisms that govern physiological development, and find treatments that will lead to better human health. Finally, this research engages next generation of researchers with whom I work daily. Together we are building a strong team of compassionate scientists eager to learn and to contribute with their skills and passion to bring knowledge to rare disease studies.