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Molecular Characterization of HHT

It is with great pleasure that we congratulate Dr. Pinar Bayrak-Toydemir for her award of $20,000 for the 2008 Young Investigators Grant sponsored by Cure HHT.

Dr. Bayrak-Toydemir’s research is seeking to identify a causative mutation, gene, or loci in patients/families with HHT for whom linkage to HHT1 and HHT2 loci have been excluded. Her proposal is focused on the discovery of gene(s) not yet identified as a molecular cause for the HHT disease. It is designed to identify molecular genetic characteristics of the HHT disease and thus additional genes involved in blood vessel development. The results of this research will provide new insight into blood vessel development by adding one piece to the puzzle that represents current understanding of vascular development and dysfunction. This information will also be important for molecular diagnosis of HHT patients and identification of at risk family members.

Dr. Bayrak-Toydemir’s proposal was deemed the strongest of all of those submitted and in the words of the evaluators, “We were impressed by the commitment of the applicant to the field of HHT research, the research environment, and the design of the study. Investment in this work may lead to the identification of a fourth HHT causing gene.”

As a second year Assistant Professor of Pathology at the University of Utah / ARUP Laboratories, she states, “It is an honor to be the recipient of the 2008 Young Investigator’s Grant sponsored by the HHT Foundation International. I will work hard to find the fourth HHT causing gene!”

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