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2024 Breakthrough Prizes Awarded for Rare Disease Research

The 2024 Breakthrough Prizes recently highlighted pioneering research in the Life Sciences category set to revolutionize the lives of those battling three rare diseases: Parkinson’s disease, Cystic Fibrosis, and Cancer. In addition to this, awards were also conferred in the categories of Fundamental Physics and Mathematics.

Award-Winning Breakthroughs in Life Sciences

Scientists are recognized for their notable breakthroughs in various life sciences domains, contributing significantly to the fight against severe diseases.

Carl June and Michel Sadelain’s advances in cancer treatment by genetically engineering T cells with synthetic receptors to identify individual cancer cells have shown promising results against liquid cancers such as leukemia, lymphoma, and myeloma. This novel treatment has led some patients to experience complete tumor elimination and long-term remission.

In the fight against cystic fibrosis, Sabine Hadida, Paul Negulescu, and Fredrick Van Goor made significant strides by developing the first efficacious medicines to treat the root cause of the disease. These medications, including a triple combination medicine, enable a protein to function correctly, markedly enhancing the quality and longevity of life for patients suffering from cystic fibrosis.

Thomas Gasser, Ellen Sidransky, and Andrew Singleton were honored for their discoveries related to Parkinson’s Disease. They discovered the most common genetic causes of Parkinson’s Disease, providing insights into the mechanisms resulting in the disease and highlighting the role of the lysosome in neuronal damage.

Contributions in Fundamental Physics and Mathematics

In the field of fundamental physics, recipients John Cardy and Alexander Zamolodchikov garnered recognition for their profound insights into quantum field theories. Simultaneously, Simon Brendle was lauded for his exceptional contributions in differential geometry, a field that employs calculus tools to examine curves, surfaces, and spaces.

About the Breakthrough Prizes

The Breakthrough Prizes were established in 2012 by notable Silicon Valley figures including Yuri Milner, Mark Zuckerberg, Priscilla Chan (from Facebook), and Sergey Brin (from Google). The prizes aim to honor outstanding individuals making transformative contributions in fundamental sciences, particularly in areas like life sciences, mathematics, and fundamental physics, with categories catering to these disciplines.

Winners of the Breakthrough Prizes receive a substantial financial reward, superseding the monetary value tied to Nobel Prizes. Each awardee is granted USD 3 million, compared to the USD 1 million per category offered by Nobel Prizes. Often referred to as the “Oscars of Science,” these awards carry significant prestige within the scientific community, showcasing groundbreaking discoveries and advancements.

The awards are presented annually to recognize top scientists globally. The inaugural ceremony in 2012 was hosted by actor Morgan Freeman. Furthermore, the Breakthrough Prizes also place a strong emphasis on supporting promising early-career researchers through sub-prizes like the New Horizons in Physics and Mathematics and the Maryam Mirzakhani New Frontiers Prize.

An Overview of Rare Diseases

A rare disease is a low-prevalence health condition that impacts a small number of individuals compared to other prevalent diseases in the general population. The definitions of rare diseases vary across different countries with no universally accepted definition.

Approximately 7,000 known rare diseases affect around 8% of the world’s population, with 75% of patients being children. India alone has approximately 50-100 million people affected by rare diseases or disorders. Examples of these diseases include Lysosomal Storage Disorders (LSD), Cystic Fibrosis, Haemophilia, and Parkinson’s Disease.

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