Alberto Kornblihtt

[1] During his postdoctoral training with Francisco Baralle in Oxford, Kornblihtt documented one of the first cases of alternative splicing, explaining how a single transcribed gene can generate multiple protein variants.

In his free time, Kornblihtt enjoys cooking, classical music, numerous genres of literature, etymology, and is a life-long lover of cinema.

[1] His parents taught mathematics and geography, providing Kornblihtt and his two siblings, who also pursued careers in science and education, with an environment for knowledge and learning at an early age.

[1] They determined that fibronectin, an important glycoprotein for cell adhesion and tissue repair,[3] was alternatively spliced and could result in the generation of twenty polypeptides.

[4] After completing his postdoctoral research in Oxford, Kornblihtt returned to Argentina in 1984 and accepted a position as an assistant professor of molecular and cell biology at Facultad de Ciencias Exactas y Naturales at the University of Buenos Aires.

[2][12] As a treatment strategy for SMA, the first FDA-approved drug, known as Spinraza was developed by Dr. Adrian Krainer and his Cold Spring Harbor Laboratory colleagues.

Kornblihtt's research team focuses on epigenetic strategies, a different mechanism than used Spinraza, to increase SMN protein from the SMN2 gene.

Through their research, they found that UV irradiation is necessary to trigger the alternative splicing of many genes and promoting the death of damaged or mutated cells.

Research showed that the chloroplast, where photosynthesis occurs, senses light and sends a signal to the cell nucleus to regulate alternative splicing.

[22] As previously found in mammalian cells, Kornblihtt's team demonstrated that alternative splicing in plants responds to the kinetic coupling mechanism.