CMU-Q researchers publish first comprehensive review of minor intron splicing

Alumnus-faculty team compiles more than 160 studies to shed light on new possibilities in cancer therapy

Ettaib El Marabti, a graduate of Carnegie Mellon University in Qatar (CMU-Q), led a team of researchers in the first comprehensive review of minor intron splicing. Scientific findings in this lesser-studied area of genomics could lead to new approaches in fighting three classes of diseases: cancer, autoimmune disorders and neurological conditions.

El Marabti graduated from CMU-Q with a bachelor’s degree in biological sciences, and is currently a fourth-year student at Weill Cornell Medicine—Qatar (WCM-Q). Both CMU-Q and WCM-Q are Qatar Foundation partner universities.

During his research, El Marabti was guided by CMU-Q’s Ihab Younis, area head of biological sciences, and Joel Malek, director of the genomics laboratory at WCM-Q, who are both co-authors of the review.

Younis believes the review is an important milestone in an emerging field: “Minor intron splicing is not very well-studied in the context of disease and pathology. Researchers have focused on the mechanism at a cellular level, but this paper looks at the relationship between the mechanism and disease, and offers insights into how we can use our knowledge therapeutically.”

Michael Trick, dean of CMU-Q, congratulated the team: “This collaboration shows how the vision of Education City as a multi-versity can make a tremendous impact in the world. I want to extend a special congratulations to Ettaib for taking an idea from his undergraduate research work and developing it into this important piece of scientific literature.”

Ettaib El Marabti at Meeting of the Minds 2017.

The idea for the review began at CMU-Q, where, under the guidance of Younis, El Marabti did an undergraduate research project that used minor intron splicing as a novel biomarker for breast cancer. He won the ‘Best Project’ and ‘Best Poster’ awards at the 2017 Meeting of the Minds research symposium hosted by CMU-Q.

After graduation, El Marabti continued to contribute to Younis’ lab, and a year later, they published a paper in Frontiers in Molecular Biosciences titled, “The cancer spliceome: Reprogramming of alternative splicing in cancer.”

El Marabti and Younis in 2018, the year they published their first paper together on minor intron splicing.

El Marabti remembers discussing the idea of a review at that time: “In the first paper, we have a small section where we mention the broader implications, but we thought the topic deserved its own focus. It wasn’t the right time in 2018, but it was still in the back of our minds.”

In 2020, El Marabti was a third-year medical student at WCM-Q, and he was considering what project to pursue for his research requirement. He approached Younis, as well as WCM-Q’s Malek, about doing the review.

Younis remembers: “There has been so much work done in this area since 2018. I suggested that under the guidance of Professor Malek and myself, he could do the research project with the intention of publishing it.”

Over a six-month span, El Marabti collected more than 160 journal articles that have been published on the subject. After the WCM-Q research requirement was finished, Younis, Malek and El Marabti worked together to prepare the paper for publication.

“The end product was excellent,” said Younis. “I consider myself an expert in the field, and there were still things I learned.”

The review, which is titled “Minor intron splicing, from basic science to disease,” was published in the International Journal of Molecular Sciences in June 2021. It was an invited article for the special issue, “Splicing modulators which affect gene expression.”

Ihab Younis’ research into minor intron splicing is supported by Qatar Foundation through Carnegie Mellon University in Qatar’s Seed Research program, and by a Qatar National Research Fund grant through the National Priorities Research Program. QNRF is a member of Qatar Foundation.