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Category: Medical Marvels

  • Nobel Prize 2024: US Scientists Win for Gene Regulation Discovery

    Nobel Prize 2024: US Scientists Win for Gene Regulation Discovery

    Nobel Prize 2024: US Scientists Win for Gene Regulation Discovery

    Nobel Prize 2024

    Table of Contents

    Victor Ambros and Gary Ruvkun were named the recipients of the Nobel Prize 2024 in Physiology or Medicine for their extensive research that led to the discovery of microRNAs, small nucleic acids important to gene regulation. This announcement was made on October 7, 2024. The Nobel Prize 2024, established by Alfred Nobel’s will, is awarded by the Nobel Assembly at Karolinska Institutet in Stockholm, Sweden. The prize recognises significant contributions in physiology or medicine, reflecting Nobel’s long-standing interest in medical research. 

    Ambros is a professor at the University of Massachusetts Medical School and Harvard University, specialising in the genetic regulatory mechanisms controlling developmental timing in the nematode Caenorhabditis elegans. Ruvkun, who works at Harvard Medical School, has pursued similar goals but with genetic pathways related to development and gene regulation. 

    Starting in the late 1980s, the collaboration between these two scientists has greatly impacted the field of gene regulation science, a crucial area in the study of diseases. Their work ultimately led to the Nobel Prize 2024 in Physiology or Medicine. Victor Ambros and Gary Ruvkun’s discovery that microRNAs (miRNAs) exist opened the door to a previously unidentified primary mechanism for controlling gene expression, essential to most multicellular organisms, including humans. By studying the roundworm Caenorhabditis elegans, these researchers discovered that the lin-4 gene produces a short RNA that acts on the lin-14 gene by suppressing the translation of the mRNA generated from the gene into protein, rather than blocking the gene from being transcribed. 

    This finding demonstrated that the function of miRs is not restricted to inhibiting genetic transcription alone, but that they can also complement target mRNA’s anti-sense sequences and obstruct protein synthesis, which was particularly noteworthy in terms of how gene regulation was perceived. Research has demonstrated that the human genome has over a thousand microRNA genes, many essential for normal cell division and development. When these genes’ activity are out of balance, illnesses like cancer can result.  

    The Nobel Assembly acknowledged their discovery at the Karolinska Institute as a basic concept guiding the regulation of gene activity, an essential process for the growth and operation of multicellular organisms. Together with a medal and diploma, they will share a prize of 11 million Swedish kronor, or roughly $1.1 million. This esteemed honor emphasizes how their research has important ramifications for comprehending various health issues, such as genetic illnesses and cancer. 

    BBC. (2023, October 11). Meet Victor Ambros and Gary Ruvkun: The scientists behind a £810,000 fund for young researchers. BBC News. https://www.bbc.co.uk/newsround/articles/cy0l9xee8gjo

    Economic Times. (2024, October 7). What is microRNA? All about Victor Ambros and Gary Ruvkun’s discovery which won them Nobel Prize in Medicine 2024. Economic Times. https://economictimes.indiatimes.com/news/science/what-is-microrna-all-about-victor-ambros-and-gary-ruvkuns-discovery-which-won-them-nobel-prize-in-medicine-2024/articleshow/114011777.cms

    France 24. (2024, October 7). Nobel Prize in medicine awarded to US duo Victor Ambros, Gary Ruvkun for discovery of microRNA. France 24. https://www.france24.com/en/live-news/20241007-%F0%9F%94%B4nobel-prize-in-medicine-awarded-to-us-duo-victor-ambros-gary-ruvkun-for-discovery-of-microrna

    Liu, J., et al. (2020). N6-methyladenosine of chromosome-associated regulatory RNA 1 regulates chromatin state and transcription. Science, 367(6480), 1138-1142. https://doi.org/10.1126/science.aay6018

    Nobel Prize. (n.d.). The Nobel Prize in Physiology or Medicine. NobelPrize.org. Retrieved October 12, 2024, from https://www.nobelprize.org/prizes/medicine/

    Popli, N. (2024, October 7). 2024 Nobel Prize winners: Physiology or medicine. TIME. https://time.com/7065011/nobel-prize-2024-winners/?amp=true

    Science News. (2024, October 7). MicroRNA discovery wins 2024 Nobel Prize in Physiology or Medicine. Science News. https://www.sciencenews.org/article/microrna-2023-nobel-physiology-medicine

    The Hindu. (2024, October 7). 2024 Nobel Prize in Physiology or Medicine: What is the research that won the prize? The Hindu. https://www.thehindu.com/sci-tech/science/2024-nobel-prize-in-physiology-or-medicine-what-is-the-research-that-won-the-prize-explained/article68728993.ece

     

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  • Neuralink’s FDA Approval for Blindsight Vision Implant

    Neuralink’s FDA Approval for Blindsight Vision Implant

    Neuralink’s FDA Approval for Blindsight Vision Implant

    Princesster Aflakpui

    By Princesster Aflakpui

    Neuralink

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    Elon Musk’s brain-chip company Neuralink has been given a “Breakthrough Device” status by the U.S. Food and Drug Administration (FDA) for its experimental vision-restoring implant, Blindsight. This is a significant development for the field of neurotechnology. Musk claimed, in a tweet, that blindsight has the potential to help people who have lost both their eyes and their optic nerve regain their clarity of vision. As long as their visual cortex is unharmed, this ground-breaking technology may potentially enable people who have been blind from birth to see for the first time.

    Musk foresees future capabilities that could surpass natural vision, including seeing in infrared, ultraviolet, and other wavelengths, even if the device’s initial vision will be low quality, similar to early video game visuals.

    Neuralink is a revolutionary brain-computer interface (BCI) that promises to provide smooth brain-to-external device connection, opening up new possibilities for individuals with severe motor disabilities. A substantial advancement in this field of technology is the Blindsight gadget, which may provide those with severe visual impairments a new lease on life.

    There is still cautious hope over the possible impact on blind people as research moves closer to clinical trials. Furthermore, developments in this field may open the door to additional breakthroughs in the fields of neuroprosthetics and brain-computer interfaces, which may have uses beyond vision restoration.

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  • Katalin Karikó and Drew Weissman, pioneers of the COVID-19 mRNA vaccine win the 2023 Nobel Prize in Physiology or Medicine

    Katalin Karikó and Drew Weissman, pioneers of the COVID-19 mRNA vaccine win the 2023 Nobel Prize in Physiology or Medicine

    The 2023 Nobel Prize in Physiology or Medicine has been awarded jointly to Katalin Karikó and Drew Weissman for their critical discoveries that enabled the development of effective mRNA vaccines against COVID-19. Their groundbreaking work laid the foundation for the Pfizer-BioNTech and Moderna vaccines, which have played a crucial role in curtailing the spread of the virus and saving countless lives during the pandemic.

    Katalin Karikó, a Hungarian biochemist, and Drew Weissman, an immunologist, both professors at the University of Pennsylvania, began their collaboration in the early 1990s. Despite facing numerous challenges and rejections while applying for grants, Karikó remained devoted to developing methods to use mRNA for therapy. Weissman’s expertise in immune responses to vaccines complemented Karikó’s focus on RNA-based therapies.

    kariko-weissman-nobel prize medicine 2023

    Their research led to a 2005 paper that received little attention at the time but later proved to be a game-changer during the COVID-19 pandemic. Their discoveries fundamentally changed the understanding of how mRNA interacts with the immune system, paving the way for the rapid development of mRNA vaccines.

    The Nobel Prize committee praised Karikó and Weissman’s “groundbreaking findings” and their significant impact on society during the recent pandemic. Their work has not only saved innumerable lives but also provided a path out of the pandemic.

    Katalin Karikó was born in 1955 in Szolnok, Hungary, and received her PhD from Szeged’s University in 1982. She is also a professor at the University of Szeged in Hungary and is the 61st woman to ever be named a Nobel Laureate. Drew Weissman is the Roberts Family Professor of Vaccine Research in the Perelman School of Medicine at the University of Pennsylvania.

    The Nobel Prize in Physiology or Medicine 2023 recognizes the immense contributions of these two scientists, whose work has had a profound impact on global health and will continue to shape the future of medicine and vaccine development.

    Sources:

    Nobel Prize

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  • Dr. Joe Hin Tjio; Research biologist who determined the correct number of human chromosomes

    Dr. Joe Hin Tjio; Research biologist who determined the correct number of human chromosomes

    What are chromosomes?

    Chromosomes are threadlike structures consisting of protein and a single molecule of DNA that carry hereditary information in the form of genes. Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.

    In plants and animals (including humans), chromosomes are found in the nucleus of cells. When a cell is not dividing, chromosomes are not visible in the nucleus, even under a microscope. During cell division, however, the DNA that makes up chromosomes becomes more tightly packed and is then visible under a microscope.

    A defining feature of any chromosome is its compactness. The chromosomes in human cells, for example, have a total length of 200 nm (1 nm = 10   -9 meter); if the chromosomes were untwisted, the genetic material they carry would be around 2 meters (6.5 ft) long. The compactness of chromosomes plays an important role in helping to organize genetic material during cell division and enabling it to fit inside structures like the nucleus of a cell, which has an average diameter of about 5 to 10 μm.

    How many chromosomes do humans have?

    You’ve probably come across Dr. Joe Hin Tjio’s research if you’ve read a biology textbook. Dr. Tjio (pronounced CHEE-oh) was an Indonesian cytogeneticist (a professional who specializes in the study of chromosomes and the structure and function of the cell) who was the first to determine the right number of chromosomes in humans. 

     

    Dr Joe Hin Tjio lenstapes med
    Dr. Tjio // credit: NIH

    When Dr. Tjio correctly counted the number of chromosomes, the nature and functions of chromosomes, the agents of heredity, was known. However, studying human chromosomes under a microscope had always proved more difficult than studying those of other species. He was researching whether chromosomal anomalies were linked to malignant growth in 1955, but the number of human chromosomes was under debate. At the time, scientists had long assumed that each body cell had 48 chromosomes, but Dr. Tjio disagreed.

    He photographed a lung cell in metaphase with perfectly distributed chromosomes to prove his theory. Dr. Tjio employed a sophisticated technology to separate the chromosomes of embryonic lung tissue on glass slides and discovered that the true figure was 46. The photograph clearly showed 46 human chromosomes, laying the groundwork for chromosome study.

    Many years later, he said, “The number was merely an inadvertent finding.” He kept studying chromosomes for clues to some of the most puzzling and devastating human diseases.

  • U.S DUO DAVID JULIUS AND ARDEM PATAPOUTIAN AWARDED THE 2021 NOBEL PRIZE IN PHYSIOLOGY OR MEDICINE

    U.S DUO DAVID JULIUS AND ARDEM PATAPOUTIAN AWARDED THE 2021 NOBEL PRIZE IN PHYSIOLOGY OR MEDICINE

    The Nobel Assembly at the Karolinska Institutet decided on 04/10/2021 to award the 2021 Nobel Prize in Physiology or Medicine jointly to David Julius and Ardem Patapoutian “for their discoveries of receptors for temperature and touch.”

    Our ability to sense heat, cold and touch is essential for survival and underpins our interaction with the world around us. In our daily lives we take these sensations for granted, but how are nerve impulses initiated so that temperature and pressure can be perceived? This question has been solved by this year’s Nobel Prize laureates.

    David Julius utilised capsaicin, a pungent compound from chilli peppers that induces a burning sensation, to identify a sensor in the nerve endings of the skin that responds to heat. Ardem Patapoutian used pressure-sensitive cells to discover a novel class of sensors that respond to mechanical stimuli in the skin and internal organs.

    The groundbreaking discoveries of the TRPV1, TRPM8 and Piezo channels by this year’s Nobel Prize laureates David Julius and Ardem Patapoutian have allowed us to understand how heat, cold and mechanical force can initiate the nerve impulses that allow us to perceive and adapt to the world around us.

    The TRP channels are central for our ability to perceive temperature. The Piezo2 channel endows us with the sense of touch and the ability to feel the position and movement of our body parts. TRP and Piezo channels also contribute to numerous additional physiological functions that depend on sensing temperature or mechanical stimuli. Intensive ongoing research originating from this year’s Nobel Prize awarded discoveries focuses on elucidating their functions in a variety of physiological processes. This knowledge is being used to develop treatments for a wide range of disease conditions, including chronic pain.

     David Julius – awarded the 2021 Nobel Prize in Physiology or Medicine – used capsaicin from chilli peppers to identify TRPV1, an ion channel activated by painful heat.

    In the latter part of the 1990’s, Julius at the University of California, San Francisco, USA, saw the possibility for major advances by analysing how the chemical compound capsaicin causes the burning sensation we feel when we come into contact with chilli peppers.

    Capsaicin was already known to activate nerve cells causing pain sensations, but how this chemical actually exerted this function was an unsolved riddle. Julius and his co-workers created a library of millions of DNA fragments corresponding to genes that are expressed in the sensory neurons which can react to pain, heat, and touch. Julius and colleagues hypothesised that the library would include a DNA fragment encoding the protein capable of reacting to capsaicin. They expressed individual genes from this collection in cultured cells that normally do not react to capsaicin. After a laborious search, a single gene was identified that was able to make cells capsaicin sensitive (see figure). The gene for capsaicin sensing had been found!

    Further experiments revealed that the identified gene encoded a novel ion channel protein and this newly discovered capsaicin receptor was later named TRPV1. When Julius investigated the protein’s ability to respond to heat, he realised that he had discovered a heat-sensing receptor that is activated at temperatures perceived as painful (see figure).

     

    The discovery of TRPV1 was a major breakthrough leading the way to the unravelling of additional temperature-sensing receptors. Independently of one another, both Julius and his co-laureate Ardem Patapoutian used the chemical substance menthol to identify TRPM8, a receptor that was shown to be activated by cold. Additional ion channels related to TRPV1 and TRPM8 were identified and found to be activated by a range of different temperatures. Many laboratories pursued research programs to investigate the roles of these channels in thermal sensation by using genetically manipulated mice that lacked these newly discovered genes. Julius’ discovery of TRPV1 was the breakthrough that allowed us to understand how differences in temperature can induce electrical signals in the nervous system.

    Ardem Patapoutian, awarded the 2021 Nobel Prize in Physiology or Medicine, used pressure-sensitive cells to discover a novel class of sensors that respond to mechanical stimuli in the skin and internal organs. Patapoutian and his collaborators first identified a cell line that gave off a measurable electric signal when individual cells were poked with a micropipette. It was assumed that the receptor activated by mechanical force is an ion channel and in a next step 72 candidate genes encoding possible receptors were identified. These genes were inactivated one by one to discover the gene responsible for mechanosensitivity in the studied cells. After an arduous search, Patapoutian and his co-workers succeeded in identifying a single gene whose silencing rendered the cells insensitive to poking with the micropipette. 

    A new and entirely unknown mechanosensitive ion channel had been discovered and was given the name Piezo1, after the Greek word for pressure. Through its similarity to Piezo1, a second gene was discovered and named Piezo2. Sensory neurons were found to express high levels of Piezo2 and further studies firmly established that Piezo1 and Piezo2 are ion channels that are directly activated by the exertion of pressure on cell membranes (see figure below).

    The breakthrough by Patapoutian led to a series of papers from his and other groups, demonstrating that the Piezo2 ion channel is essential for the sense of touch. Moreover, Piezo2 was shown to play a key role in the critically important sensing of body position and motion, known as proprioception. In further work, Piezo1 and Piezo2 channels have been shown to regulate additional important physiological processes including blood pressure, respiration and urinary bladder control.

     

    Source: The Nobel Committee for Physiology or Medicine

  • HISTORY OF INSULIN: The Discovery of a Lifesaver in the History of Medicine

    HISTORY OF INSULIN: The Discovery of a Lifesaver in the History of Medicine

    Insulin is a hormone which plays a key role in the regulation of blood glucose (sugar) levels. This hormone plays other essential roles in the body’s metabolism. It regulates your body’s metabolism of carbohydrates, fats, and proteins. Sound important? That’s because it is. A lack of insulin, or an inability to adequately respond to insulin, can each lead to the development of the symptoms of diabetes. Administration of synthetic insulin in individuals with diabetes is essential in certain instances of the condition. 

     

    The discovery and advancement of insulin as a treatment for diabetes can be traced back to the 19th century. Research into the development of insulin has driven scientists to take very important steps towards understanding human biology, with several scientists receiving Noble Prize Awards for research into the hormone.

    All of it started with Dr Frederick Banting and medical student Charles Best performing experiments on the pancreases of dogs in Toronto, Canada.  In 1920, Professor John Macleod who was then a lecturer in physiology at the University of Toronto was approached by Dr Banting with his idea of curing diabetes with a pancreatic extract. Professor Macleod was not enthusiastic initially, because he knew about unsuccessful experiments in this direction by other researchers. He thought it more likely that the nervous system had a crucial role in regulating blood glucose concentration.

    Dr Banting managed to convince Professor Macleod to lend him and Best laboratory space during a vacation that summer to carry out the experiments. The experiments entailed the removal of the pancreases of dogs under study. When the pancreases were removed, the dogs showed symptoms of diabetes. The pancreas was then sliced and ground up into an injectable extract. This was injected a few times a day which helped the dogs to regain health. This extract was later named ‘Insulin’.

    Bertram Collip, a biochemist, later joined the team to provide help with purifying the insulin to be used for testing on humans. After the group had experimented enough to gain an understanding of the required doses and how best to treat hypoglycemia, their insulin was deemed ready to be tried on patients.

    In January 1922, a 14-year-old Canadian boy named Leonard Thompson laid in Toronto General Hospital dying from diabetes. He was at risk of slipping into a diabetic coma. To avoid this, Leonard’s father allowed him to be injected with the new pancreatic extract, now known as insulin. Before the discovery of insulin, people with diabetes were subjected to a starvation diet, with little hope for survival. Leonard lived another 13 years before succumbing to pneumonia.

    Although pancreatic extracts remained the main source of insulin for a long time, in 1936 Hans Christian Hagedorn discovered that the action of insulin could be prolonged with the addition of protamine, a basic protein widely available from fish sperm. Following this discovery, protamine insulin, with an approximate duration of 12h, was increasingly used in people with diabetes to good effect.

    Later, Scott and Fisher discovered that zinc could be added to protamine insulin. This paved way for the development of Neutral Protamine Hagedorn (NPH). The sequencing of insulin by Frederick Sanger then led to the synthesis of the first genetically engineered or “human” insulin using DNA recombinant technology. This was derived from E. Coli bacteria, and Eli Lilly pharmaceutical company began selling it under the brand “Humulin” through the 1980s.

    The need to make insulin mimic the naturally produced insulin and enhanced knowledge of amino acid sequencing paved way for the introduction of synthetic ( or analog) insulin. These are now used extensively in people with Diabetes.

    Insulin is currently available in many forms, from regular human insulin to ultra-rapid and ultra-long acting insulins. People with diabetes can pick from a range of formulations and ways to take their insulin based on their unique needs and lifestyles. Insulin has come a long way from Humalog to Novolog, and from insulin pens to insulin pumps. Although it isn’t a cure for diabetes, it is a  lifesaver.

    So, where does insulin go from here? Scientists aren’t sure (but they’re working hard to figure it out), but one thing is certain: insulin is a medical marvel in the world of diabetes.
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