Anabel Martinez Bengochea

WORK HISTORY

EDUCATION

ABOUT ANABEL MARTINEZ BENGOCHEA

There are about 7,009 rare diseases, which more than 90% of them have no treatment and 50-75% affects children. RNA splicing is the process by which intron are removed, and exons joined together in pre-mRNA processing. Genetic variants within introns can influence RNA splicing, leading to disease through the loss of protein expression and/or function. However, the molecular consequences of deep intronic variants are challenging to predict. We have developed a massively parallel minigene splicing assay that can experimentally detect variant-induce splicing aberrations. The assay consists of a GFP minigene reporter containing a short human intron. Centered within the intron of the reporter gene is a cloning cassette that can be used to insert intronic sequences of interest. We generated a library of 92K sequences corresponding to 14k rare genetic variants detected within introns of undiagnosed rare diseases patients enrolled in Genomic Answers for kids program. We are currently in the process of validating these splicing defects in patients-derived cell models. We are open to collaborate I am part of the OWSD Uruguay it is hosted at the Dirección de Innovación, Ciencia y Tecnología para el Desarrollo (DICYT), a department of the Ministerio de Educación y Cultura (MEC), in Montevideo. Among the National Chapter\'s activities are information-gathering related to women\'s participation in research and scientific teaching and leadership, redefining role models, and mentoring future generations of women in science.