Cure SMA Awards $140,000 Grant to Alberto Kornblihtt, PhD, Universidad de Buenos Aires, Argentina

Cure SMA and FAME (Families of SMA, Argentina) have awarded a $140,000 research grant to Alberto Kornblihtt, PhD, at the Universidad de Buenos Aires, Argentina, for his project, “Epigenetics in SMN2 E7 Alternative Splicing.”

Epigenetics refers to changes that affect how much protein is produced from each gene, without altering the DNA sequence. Dr. Kornblihtt and his team plan to use epigenetic strategies to enhance the production of SMN protein from the SMN2 gene, with the goal of compensating for the missing SMN1 gene in SMA patients.

In this project, their goal is to identify cellular mechanisms and then drugs that affect epigenetic features of the SMN2 gene. This could increase production of full –length SMN protein from the SMN2 gene.

Drugs like Spinraza also work by ensuring protein produced from the SMN2 gene contains all the key building blocks needed for its correct functioning. However, Spinraza accomplishes this through a different mechanism than the epigenetic drugs to be explored in this project. Therefore, these epigenetic strategies could be used in combination with SMN-enhancing approaches, such as Spinraza, to achieve greater benefit for those with SMA.

This grant was co-funded by FAME (Families of SMA, Argentina). 

Meet Dr. Kornblihtt

Who are you?

I graduated as a biologist (1977) from the School of Sciences at the University of Buenos Aires (UBA) and obtained a PhD in Biochemistry (UBA, 1980) at the Campomar Foundation. I did a postdoctoral fellowship (1981-1984) at the Sir William Dunn School of Pathology in Oxford (UK). I am Plenary Professor at the Department of Physiology, Molecular and Cell Biology of UBA and Director of the Institute of Physiology, Molecular Biology and Neurosciences of the National Research Council (IFIBYNE-UBA-CONICET) of Argentina. Since 2002 I am an International Research Scholar of the Howard Hughes Medical Institute (HHMI). I am a Foreign Associate of the National Academy of Sciences of the USA and a member of EMBO. I have also served the on Board of Reviewing Editors for the journal Science (2010-2015).

How did you first become involved with SMA research?

As an expert in splicing, the removal of pieces of RNA in order to create the proper template for protein production, I was aware that treatment of SMA could be achieved through controlling the splicing of the SMN2 gene. However, I didn’t begin working on SMA until 2015 when I was approached by Argentine SMA patients who encouraged me to start a new project in my lab in Buenos Aires in collaboration with the lab of Dr. Adrian Krainer at Cold Spring Harbor Laboratories, NY. Our goal is to test if the use of the tools we have developed in our lab could improve the effectiveness of therapies such as Spinraza.

What is your current role in SMA research?

My lab works on the regulation of alternative splicing, explaining how a single gene is able to make multiple proteins. We have discovered one of the mechanisms that cells use in order to regulating alternative splicing. We have also investigated how DNA damage and epigenetic changes impact the alternative splicing of genes. We plan to use our vast knowledge on the regulation of alternative splicing to develop new tools to enhance the production of SMN protein.

What do you hope to learn from this research project?

We hope to discover potential drugs that, by affecting epigenetic features of the SMN2 gene, help to produce more functional SMN protein.

How will this project work?

We will use epigenetic strategies developed in our lab to investigate how to promote functional SMN protein production from the SMN2 gene.

What is the significance of your study?

This research may result in therapies that work by epigenetic mechanisms. These therapies could potentially be used in combination with SMN-enhancing drugs, such as Spinraza, to improve effectiveness in patients.

Basic Research Funding

This grant to Dr. Kornblihtt is part of $1.03 million in new basic research funding that we’re currently announcing.

Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.

Past Announcements

$140,000 to Arthur Burghes, PhD

$140,000 to Jocelyn Côté, PhD

$30,000 to Remy Bordonne, PhD

$75,000 to Jean Giacomotto, PhD

$140,000 to Christine DiDonato, PhD

$75,000 to Chris Lorson, PhD

$75,000 to Yong-Chao Ma, PhD

$75,000 to Stephen J. Kolb, PhD

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