BeHEARD 2015 Science Challenge, held by the Rare Genomics Institute, announced that its Bronze Prize winner is Michihisa Umetani, an assistant professor of biology and biochemistry at the University of Houston’s Center for Nuclear Receptors and Cell Signaling.
Dr. Umetani studies hereditary spastic paraplegia type 5A, a neurological illness that leads to lower-body spasticity and fragility. The prize, announced on Nov. 10, will provide Dr. Umetani with technical support services worth $5,000 from the Neuron-Genetics Institute. The award is intended to help Dr. Umetami and his team continue their research on the loss of functions that leads to hereditary spastic paraplegia type 5A.
“This disease results from mutations that lose the enzyme function in a gene called CYP7B1, a metabolizing enzyme of a certain type of oxysterol, cholesterol metabolite, called 27-hydroxycholesterol (27HC),” explained Dr. Umetani in a news release. “We have been working on the role of 27HC in human physiology and disease, and found that this oxysterol binds to estrogen receptor (ER) and alters ER function.”
Estrogen and ER have a preventive role in vascular inflammation and cardiovascular disorders, like atherosclerosis (the stiffening of blood vessels). 27HC, however, escalates the diseases, in addition to decreasing bone mass and stimulating the progression of breast tumors, all mediated by its ER modulation.
CYP7B1 gene mutation, which enhances 27HC levels, leads to neurological disorders in humans. Clinical trials in mice lacking in CYP7B1, however, did not find they went on to develop motor neuron disease. With this prize and the resources it provides, Dr. Umetani expects to further compare the differences in phenotypes of CYP7B1 deficiency in humans and mice, in an attempt to identify the processes by which CYP2B1 substrates affect hereditary spastic paraplegia type 5A.
This award is particularly significant because researchers dedicated to the study of rare diseases usually encounter many challenges in attracting funding. BeHEARD — Helping Empower and Accelerate Research Discoveries — is an international competition that gives these researchers an opportunity to use the latest innovations and technologies in their projects. The BeHEARD crowdsourced biotechnology contest connects companies and research teams and encourages cooperation in finding new paths to breakthrough discoveries.