Oscar Diaz-Horta, Ph.D.

Meet the Researcher

Diaz-Horta received his doctorate in biomedical sciences from the University of Havana, Cuba, and completed postdoctoral research at the University of Miami, where he is now an assistant scientist in the department of human genetics. Diaz-Horta is a 2017 Emerging Research Grants recipient funded by The Children’s Hearing Institute.

Despite great advances in modern science, the molecular mechanisms of hearing and cochlear development still remain to be elucidated. My research consists of detecting and characterizing genes that, when mutated, cause hearing loss. Over the past six years, our team has discovered multiple deafness-related genes, including mutations in FAM65B. After publishing its initial characterization, we are now determining the mechanism by which the defective gene can influence optimal hearing.

My father is a physician who is specialized in endocrinology. He graduated from medical school in Havana in the late ’60s. In the ’70s, he received additional training in universities in England and West Germany. He was very interested in research and explicitly wanted me to become a scientist.

I entered a science-oriented boarding school in Cuba in 1988 called Humboldt 7, which definitely shaped my affinity for science and discovery. My teachers in math, chemistry, and
physics effectively conveyed to me the concepts of cause and effect and that by changing variables you can obtain different outcomes in a particular system.

I like creating tools or objects that help to make things easier at work and in life. I designed a device to simultaneously open and close multiple laboratory tubes that I then asked my father-in-law to build. The working prototype now in my lab has saved lots of time and effort when I perform molecular biology experiments.

A major career highlight so far has been to be part of the discovery and characterization of a deafness gene called ROR1. When mutated, this gene causes hearing loss due to a defective innervation of auditory hair cells. The discovery was not mere serendipity—it was the result of performing genome sequencing in families with deafness.

I have undergone training at institutions in Europe, including two years each in Italy and Belgium, so besides incorporating Italian and French to my spoken languages, I also learned to cook foods from these two countries. My spouse, who is English, tells me how impressed she is about the diversity of dishes I have prepared over the course of our six-year relationship.

Oscar Diaz-Horta, Ph.D.’s grant is funded by HHF partner The Children’s Hearing Institute (CHI). We thank CHI for its generous support of innovative research focused on congenital and acquired childhood hearing loss and its causes, assessment, diagnosis, and treatment.

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The Research

University of Miami
The role of FAM65B in the regulation of post-translational modifications of auditory hair cell proteins

Recent genetic studies have identified the FAM65B protein as an important molecule for hearing. In this study we will search for inner ear hair cell proteins interacting with FAM65B in order to further delineate FAM65B’s function. We will focus on FAM65B’s role in the modification of its partner proteins. These studies will help characterize molecular aspects of hearing and how hearing loss occurs when they are disrupted. 

Long-Term Goal: To develop novel strategies for protection of hearing and restoration of hearing loss by delineating molecular mechanisms that underlie hair cell morphogenesis, function, and maintenance.