Distinguished Scientists with Breakthroughs in Gene Therapy for Neuromuscular Diseases, and Revolutionary RNA Discoveries , Announced as King Faisal Prize Laureates in Medicine & Science

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Professor Jerry Mendell and Professor Howard Chang, among other eminent figures, were selected to win the 46th session of the Prize

Riyadh, Saudi Arabia, Jan. 10, 2024 (GLOBE NEWSWIRE) — Professor Jerry Mendell was announced this year’s laureate in King Faisal Prize for Medicine for his groundbreaking contributions to screening, early diagnosis, and treatment of neuromuscular disorders, and Professor Howard Chang was announced this year’s laureate in King Faisal Prize for Science in the field of Biology for his pioneering work in uncovering the significance of long non-coding RNAs in gene regulation and function and his collaborative efforts in advancing genome-wide methodologies to identify DNA regulatory regions. Other laureates’ names were announced to win King Faisal Prize in 2024 for enriching humanity with invaluable achievements and discoveries, and excelling in the fields of Islamic Studies and Serving Islam.

Professor Jerry Mendell’s work lies in the screening, early diagnosis, and treatment of patients with spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and limb girdle muscular dystrophies. The Prize’s Medicine topic for 2024 was “Management of Peripheral Disabilities”.

Spinal muscular atrophy (SMA) used to be considered the primary genetic contributor to infant mortality. Around 95% of infants that were diagnosed with SMA, did not survive beyond the age of two. Babies with SMA type 1 are missing a gene called survival motor neuron gene 1 (SMN1) which is vital for their development and its absence prevents them from moving, talking, swallowing, and eventually breathing. Professor Mendell, the Director of Gene Therapy Center at Nationwide Children’s Hospital and Curran Peters Chair in Pediatric Research, used gene-therapy to deliver a healthy gene (SMN1) to patients’ cells. He was the first to demonstrate the safety and efficacy of high doses of AAV-mediated gene transfer therapy for individuals diagnosed with SMA type 1. Adeno-associated viral vectors (AAV) are engineered viruses specifically designed to deliver DNA, and in the context of SMA treatment, they carry the genetic encoding of the healthy SMN gene. His therapeutic approach has garnered worldwide approval, and in 2019 the U.S. Food and Drug Administration granted approval for the first-ever gene therapy treatment for pediatric patients under 2 years of age diagnosed with SMA.

Gene-therapy has also been used by Professor Mendell to correct the genetic mutations for patients suffering from the most common form of muscular dystrophy; Duchenne muscular dystrophy (DMD), a progressive neuromuscular disease. In patients with DMD, genetic mutations prevent cells from making dystrophin; a protein responsible for developing and maintaining healthy muscle tissue. While initial symptoms in DMD patients manifest in skeletal muscles, the condition progresses to impact the heart and respiratory functions. Gene therapy serves to rectify this genetic abnormality, enabling the body to generate dystrophin and impede the ongoing degeneration of muscle tissue. In June 2023, the U.S. Food and Drug Administration approved the first treatment for pediatric patients 4-5 years old with DMD using the novel gene-therapy co-invented by Professor Mendell and Professor Louise Rodino-Klapac; a post-doctoral fellow in Mendell’s lab at the time. A single injection treatment involves administering a micro-dystrophin gene into an adeno-associated virus serotype (AAVrh74), facilitating the delivery of missing or corrected genes to cells.

Professor Mendell has been involved in clinical trials for gene therapy for limb-girdle muscular dystrophy (LGMD) including types 2E, 2B, and 2D. LGMD is an umbrella term that represents several rare types of muscular dystrophy that cause muscle weakness in shoulders, upper arms, hips, and upper legs. It is a chronic condition that affects people of all ages. In one of his studies, Prof. Mendell and his team used a single injection of a low dose of a gene therapy vector to address the primary cellular deficit associated with LGMD2B. The approach repaired the injured muscle fibers, reducing degeneration, and enhancing muscle function.

As author of over 400 papers, Prof. Mendell was elected to the National Academy of Medicine in 2021. He was also recognized by the American Society of Gene and Cell Therapy (ASGCT) with a Translational Science Award in his Name. Science Magazine awarded him the Breakthrough Achievement Award in 2017 for SMA Gene Therapy.

As for this year’s Science Prize in the field of Biology, Professor Howard Chang was announced the laureate, for unveiling the intrinsic role of long non-coding RNAs in gene regulation and function, and for his collaborative endeavors in advancing genome-wide methodologies identifying DNA regulatory regions. Such findings are significantly influencing the realms of molecular biology and genetics, contributing to a deeper understanding of intricate human diseases. His research addresses how large sets of genes are turned on or off together, a key point that helps understand normal development, cancer, and aging.

Professor Howard Chang, a physician-scientist, Professor of Dermatology and Genetics, and Virginia and D.K. Ludwig Professor of Cancer Research at Stanford University, has made significant contributions to the field of RNA medicines. His lab’s work has focused on understanding the roles of long noncoding RNAs (a genetic material found in cells) in biological regulation and their potential therapeutic applications. He discovered long sequences of RNA that, in contrast to the better-known messenger (mRNAs) responsible for protein synthesis, do not encode proteins. Prof. Chang discovered that these sequences play a role in influencing DNA accessibility. They act like a magnet for other RNA molecules and alter mRNA splicing, to affect gene expression, among other duties. Despite not encoding proteins, lncRNAs are crucial for controlling the timing and amount of protein production, impacting the overall function and behavior of cells.

In every human cell, 2 meters of DNA are packed in a 10-micron nucleus, so most of the DNA is highly compacted making most of it inaccessible except for the active DNA elements that the cell is using and reading. Discovering the location of these accessible elements provides insights into the cell’s “software”. Prof. Chang’s lab has pioneered techniques to map the landscape of chromatin; the substance that forms chromosomes and consists of DNA and proteins that structure the genome and control gene expression. One groundbreaking technique innovated by Chang’s lab was the Assay of Transposase Accessible Chromatin, which used an enzyme called Tn5 transposase which copies and pastes DNA. This technique led to a million-fold improvement in the sensitivity and hundred-fold improvement in the speed of mapping regulatory DNA – the epigenome- in human cells.

His work unraveled mechanisms and targets in various human diseases, notably cancer, immunity, and development. His recent investigations into extrachromosomal DNA in cancer revealed key findings. Prof. Chang also established the RNA Medicine Program at Stanford, which works to accelerate the discovery and translation of RNA science into human therapeutics.

Prof. Chang’s honors include the NAS Award for Molecular Biology, Outstanding Investigator Award of the National Cancer Institute, Paul Marks Prize for Cancer Research, Judson Daland Prize of the American Philosophical Society, and the Vilcek Prize for Creative Promise. His work was honored by the journal Cell as a Landmark paper over the last 40 years and by Science as “Insight of the decade”.

In addition to Medicine and Science, King Faisal Prize recognized this year the achievements of an outstanding thinker and scholar in the field of Islamic Studies and exemplary leaders who played a pivotal role in serving Islam, Muslims, and humanity at large.

Professor Wael Hallaq, the Avalon Foundation Professor in the Humanities at Columbia University, was selected to receive the “Islamic Studies” prize in “Islamic Legislations and their Contemporary Applications” for 2024. He has provided an academic reference, parallel to the traditional Orientalist writings, that influenced universities around the world. This was evident in his numerous works that were translated into many languages, and his success in establishing a guideline for the development of Islamic legislation.

As for the Service to Islam Prize, the Japan Muslim Association and Dr. Mohammad Sammak, were announced as co-laureates for this year’s 2024 prize.

King Faisal Prize for Arabic Language & Literature for 2024 on the topic of “Non-Arab Institutions and their Endeavors to Promote Arabic” was withheld due to nominated works not elevating to the criteria of the prize.

King Faisal Prize’s laureates names for 2024 were announced today in Riyadh Saudi Arabia, by HRH Prince Turki Alfaisal and the Prize’s Secretary General Dr. Abdulaziz Alsebail. Since 1979, King Faisal Prize in its 5 different categories has awarded 295 laureates who have made distinguished contributions to different sciences and causes. Each prize laureate is endowed with USD 200 thousand; a 24-carat gold medal weighing 200 grams, and a Certificate inscribed with the Laureate’s name and a summary of their work which qualified them for the prize.

Attachments

Maysa Shawwa
King Faisal Foundation
Maysa.Shawwa@kff.com

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