January 31, 2025

Treatment of Prostate Cancer

Gene discovery revolutionizes the detection and treatment of prostate cancer


Genetic studies reveal how PSA variations affect prostate cancer detection and outcomes, paving the way for personalized diagnostic tools and care.

Prostate cancer is the second most common cancer affecting men globally, with diagnostic methods and risk assessment remaining a challenge despite decades of research. For years, the prostate-specific antigen (PSA) blood test has been a cornerstone in detecting prostate cancer

However, while PSA testing has been shown to reduce prostate cancer-related deaths, it also leads to over-diagnosis. This calls for a shift toward more individualized and informed approaches to screening, especially for younger men.

PSA’s biological role goes beyond its use as a diagnostic marker. It plays a critical role in liquefying semen and tumor progression by interacting with growth factors and proteins in the extracellular matrix. This activity promotes cancer cell migration, bone metastasis, and blood vessel formation in tumors.

Despite its clinical utility, PSA’s ability to distinguish between aggressive and indolent cancers remains limited. Recent advancements in genetics offer insights into this limitation and present opportunities for improved diagnostic methods.

Genome-wide association studies (GWAS) have identified more than 450 single nucleotide polymorphisms (SNPs) linked to prostate cancer risk. These SNPs account for approximately 42.6% of familial prostate cancer risk in individuals of European ancestry. Among them, a specific SNP in the KLK3 gene—which encodes PSA—has drawn significant attention.

Known as rs17632542, this SNP causes an amino acid substitution from isoleucine to threonine (Ile163Thr) in PSA. This genetic variation is associated with reduced prostate cancer risk, yet its precise role in the disease has remained unclear.

Recent research, published in the journal, Nature Communications, sheds light on how this SNP influences PSA’s biochemical activity and its implications for cancer progression. Laboratory and animal studies reveal that the Ile163Thr variant alters PSA’s proteolytic activity, impacting the tumor microenvironment.

This variant is linked to smaller primary tumors but higher metastatic potential, particularly to the bones, where it triggers pronounced bone loss. These findings highlight the dual nature of this genetic variation: while it reduces overall cancer risk, it paradoxically increases the likelihood of aggressive disease.

The SNP’s impact extends to PSA levels in the blood. Carriers of this variant typically exhibit lower total PSA and a higher free-to-total PSA ratio. This could lead to delayed prostate cancer diagnosis, as lower PSA levels might not trigger early biopsy recommendations. Consequently, some aggressive cancers may go undetected until later stages, resulting in worse outcomes.

“Through comprehensive lab and mice tests, we found that this SNP, although associated with reduced prostate cancer risk, is also associated with an aggressive type of this cancer,” said Dr. Srinivasan, one of the study’s lead researchers. She emphasized that the findings help explain anomalies in current diagnostic practices and underscore the need for improved screening tools.

Despite its limitations, the PSA test remains a vital diagnostic tool. However, it cannot differentiate between aggressive and non-aggressive cancers.

This limitation leads to over-diagnosis, over-treatment, and unnecessary biopsies, which impact patients’ quality of life and increase healthcare costs. At the same time, low PSA levels associated with aggressive cancers may result in delayed diagnosis and higher mortality.

Professor Jyotsna Batra, who spearheaded the study, highlighted the potential for personalized medicine to address these challenges. “Findings from this study may lead to developing a novel and simple point-of-care device,” she said.

Such a device could identify patients with genetic variations linked to aggressive prostate cancer, even when PSA levels are low. This would enable general practitioners to provide tailored diagnostic assessments and guide clinical decisions more effectively.

Collaborative efforts by researchers have advanced understanding of how genetic variations influence prostate cancer outcomes. The research team, led by Professor Batra and QUT Distinguished Professor Emeritus Judith Clements, included experts from bioinformatics, biomedical sciences, and clinical practice.

Their findings could revolutionize prognostic prediction by distinguishing more aggressive cancers and identifying high-risk groups who need early intervention.

This breakthrough research highlights the interplay between genetics and diagnostic markers like PSA. By identifying the functional implications of the rs17632542 SNP, scientists are paving the way for more accurate and individualized approaches to prostate cancer care. The study’s findings emphasize the importance of integrating genetic data into routine screening and treatment protocols.

As researchers continue to unravel the complexities of prostate cancer genetics, the goal of personalized medicine comes closer to reality. With tools informed by genetic variations, clinicians could one day offer more precise and effective care, reducing the burden of over-diagnosis while improving outcomes for those with aggressive disease.

This innovative approach aligns with an era of personalized treatment, where genetic insights transform how diseases like prostate cancer are managed.

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January 30, 2025

Nobel Prize

Nobel Prize goes to microRNA researchers



Victor Ambros (l) and Gary Ruvkun (r) share the 2024 Nobel Prize in Physiology or Medicine

The Nobel Prize in Physiology or Medicine 2024 has been awarded to US scientists Victor Ambros and Gary Ruvkun for their work on microRNA. Their discoveries help explain how complex life emerged on Earth and how the human body is made up of a wide variety of different tissues. MicroRNAs influence how genes - the instructions for life - are controlled inside organisms, including us. The winners share a prize fund worth 11m Swedish kronor (£810,000).

Every cell in the human body contains the same raw genetic information, locked in our DNA. However, despite starting with the identical genetic information, the cells of the human body are wildly different in form and function.

The electrical impulses of nerve cells are distinct from the rhythmic beating of heart cells. The metabolic powerhouse that is a liver cell is distinct to a kidney cell, which filters urea out of the blood. The light-sensing abilities of cells in the retina are different in skillset to white blood cells that produce antibodies to fight infection.

So much variety can arise from the same starting material because of gene expression. The US scientists were the first to discover microRNAs and how they exerted control on how genes are expressed differently in different tissues. The medicine and physiology prize winners are selected by the Nobel Assembly of Sweden's Karolinska Institute. They said: “Their groundbreaking discovery revealed a completely new principle of gene regulation that turned out to be essential for multicellular organisms, including humans.

"It is now known that the human genome codes for over 1,000 microRNAs.” Without the ability to control gene expression, every cell in an organism would be identical, so microRNAs helped enable the evolution of complex life forms.

Abnormal regulation by microRNAs can contribute to cancer and to some conditions, including congenital hearing loss and bone disorders. A severe example is DICER1 syndrome, which leads to cancer in a variety of tissues, and is caused by mutations that affect microRNAs.


Prof Ambros, 70, works at the University of Massachusetts Medical School, and Prof Ruvkun, 72, is a professor at Harvard Medical School. Both conducted their research on the nematode worm - C. elegans. They experimented on a mutant form of the worm that failed to develop some cell types, and eventually homed in on tiny pieces of genetic material or microRNAs that were essential for the worms' development.

This is how it works:A gene or genetic instruction is contained within our DNA. Our cells make a copy, which is called messenger RNA or simply mRNA (you'll remember this from Covid vaccines). This travels out of the cell's nucleus and instructs the cell's protein-making factories to start making a specific protein. But microRNAs get in the way by sticking to the messenger RNA and stop it working. In essence the mircoRNA has prevented the gene from being expressed in the cell

Further work showed this was not a process unique to worms, but was a core component of life on Earth. Prof Janosch Heller, from Dublin City University, said he was "delighted" to hear the prize had gone to Profs Ambros and Ruvkun.

"Their pioneering work into gene regulation by microRNAs paved the way for groundbreaking research into novel therapies for devastating diseases such as epilepsy, but also opened our eyes to the wonderful machinery that is tightly controlling what is happening in our cells.”
microRNA, gene regulation, non-coding RNA, post-transcriptional control, RNA interference, miRNA biogenesis, miRNA target prediction, miRNA biomarkers, oncogenic miRNAs, tumor suppressor miRNAs, circulating miRNAs, exosomal miRNAs, miRNA therapeutics, miRNA-based diagnostics, next-generation sequencing, RNA sequencing, miRNA expression profiling, epigenetic regulation, small RNA, precision medicine

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January 29, 2025

Intriguing discoveries

2024 a breakthrough year for science: A look at some intriguing discoveries



2024 saw groundbreaking medical advances, major space exploration milestones, and progress in ancient genetics, marking exciting discoveries.

As 2024 draws to a close, let's reflect on some of the most remarkable inventions and discoveries in science and technology. From groundbreaking medical breakthroughs and significant space exploration milestones to advances in ancient genetics, this year has been filled with exciting progress and innovations.

Best inventions and discoveries of 2024

HIV prevention drug Lenacapavir: Approved in 2022, Lenacapavir showed impressive results in 2024 trials with a 96% success rate in one and 100% in another. Administered as a semi-annual shot, it serves as an HIV pre-exposure prophylaxis (PrEP), according to Discover Magazine.

You 2025 Fortune revealed! Read Now

Fruit fly brain mapping: In October 2024, scientists released a detailed map of 140,000 neurons in a fruit fly’s brain, helping to understand human cognition and memory. The research took 10 years to complete.

New super-Earth discovery: NASA found TOI-715 b, a super-Earth 137 light-years away, in a habitable zone. It may support liquid water. A potential smaller Earth-like planet, TIC 271971130.02, could also exist in its orbit.

Neanderthal and human interbreeding: Recent studies pinpoint the timeline of interbreeding between humans and Neanderthals, based on genetic data. Researchers analysed 59 ancient human genomes and 275 modern human genomes to determine when Neanderthals and humans coexisted in Eurasia. Their findings show that the two species lived together for about 7,000 years, from 50,500 to 43,500 years ago.

CRISPR technology advancements: Clustered regularly interspaced short palindromic repeats (CRISPR), developed by Emmanuelle Charpentier and Jennifer Doudna, continues to evolve, offering potential treatments for genetic disorders. Researchers at Profluent are developing OpenCRISPR-1, an open-source gene editing tool powered by large language models (LLMs) like ChatGPT. They aim to improve gene editing accuracy and safety, with a focus on ethical use.

Oldest known Reptile skin: In 2024, researchers discovered the oldest fossilised reptile skin, dating back 20 million years, from a semi-aquatic creature, possibly Captorhinus aguti.

New Moons of Neptune and Uranus: In 2024, three new moons were discovered orbiting Neptune and Uranus, bringing their total to 30.

Discovery of cave srt in Patagonia: In 2024, researchers uncovered pigmented cave drawings in Cueva Huenul 1, Patagonia, Argentina, published in Science Advances. Nearly 900 paintings were found, depicting faces, geometric shapes, and llama-like creatures. The oldest paintings are 8,200 years old, with others spanning another 3,000 years. Over 100 generations may have used the cave, suggesting it was a place for cultural learning and historical reflection.

DermaSensor for skin cancer detection: The DermaSensor, a noninvasive skin cancer detection device, uses light technology developed at Boston University to reduce missed diagnoses by half. It directs light pulses at tissue to differentiate malignant from benign lesions based on how they scatter light. Developed by BU engineer Irving J. Bigio, the device was FDA-approved in January and named one of Time's "Inventions of the Year" in October. With skin cancer affecting one in five Americans, this innovation promises better early detection.

AI model predicts Alzheimer's progression: A team of Boston University engineers, neurobiologists, and data scientists developed a machine learning model that predicts the progression of mild cognitive impairment to Alzheimer’s, with an accuracy rate of 78.5%.

Deep-sea rocks generate Oxygen: Researchers discovered that polymetallic nodules deep below the Pacific Ocean generate oxygen through seawater electrolysis, a process usually associated with sunlight-driven organisms. BU biologist Jeffery Marlow was part of the team behind the discovery.

Space cloud's impact on Earth's climate: About two million years ago, Earth’s solar system encountered a dense interstellar cloud that likely compressed the sun’s heliosphere, reducing Earth’s protection. BU-led research suggests this event exposed the planet to radioactive particles, possibly causing a temperature drop. BU space physicist Merav Opher, the study’s lead author, noted this is the first research to show how an external solar system encounter affected Earth’s climate.

genetic testing, consumer genomics, direct-to-consumer testing, DNA sequencing, personalized medicine, genetic counseling, ancestry testing, carrier screening, pharmacogenomics, hereditary disease risk, whole-genome sequencing, molecular diagnostics, genotyping technologies, health genomics, predictive analytics, clinical genomics, genome editing, bioinformatics tools, nutrigenomics, polygenic risk scores

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January 27, 2025

Genes Shape Personality Traits

How Genes Shape Personality Traits: New Links Are Discovered



Your DNA has long been known to play a role in shaping your personality. Now, researchers at Yale School of Medicine (YSM) have taken another step in determining exactly how by identifying a number of new genetic sites associated with specific personality traits. They published their findings in Nature Human Behavior on August 12.

Using data from the Million Veteran Program, researchers performed a genome-wide association study (GWAS) to identify genetic variations, called “loci,” associated with each of the “Big Five” personality traits: extraversion, openness, agreeableness, neuroticism, and conscientiousness. The researchers then combined these data with previous GWAS to perform a meta-analysis with almost 700,000 individuals, marking the largest GWAS for personality traits to date.

“We are a step closer in that process of increasing the sample size to be able to more clearly understand which variants are truly related to these personality traits,” says Daniel Levey, PhD, assistant professor of psychiatry at YSM and principal investigator of the study.

The Big Five and novel loci

The Big Five personality traits are a scientifically based measure of personality that can be studied using self-reported assessments that indicate whether people score high or low in each of the five traits. Participants in the Million Veteran Program, a national research program that collects data including genetic information from veterans to better understand genes and health, completed these assessments in addition to providing a blood sample for genetic analysis.

By comparing personality assessment results with the analysis of variations in the participants’ DNA, Levey and his team found 62 new loci associated with neuroticism. They also identified loci for agreeableness for the first time. By combining their results with previously published data, they performed a meta-analysis to identify over 200 genetic loci across the five personality traits.

Even with the large number of genetic variations they found, Levey hopes that they will be able to further expand on these studies in the future, eventually increasing the number of participants to millions of people rather than hundreds of thousands and increasing the diversity of participants as well. Current studies of genes and personality have been largely made up of people with European ancestry.

“To be able to be confident in saying what direction of effect these variations have and what the actual precise effect of the variation is, we need to have vastly larger sample sizes,” Levey says. “Current human genetic studies are homogenous relative to the world populations. If you were able to bring in more diverse people and you were able to look at how associations in one population versus another overlap, it would give us a tighter definition.”

Genes, personality, and mental health

Levey and his team also investigated genetic correlations between personality traits and various mental health conditions. They found that there was a strong overlap between neuroticism, a personality trait marked by negative feelings, and depression and anxiety. People with high agreeableness, a personality trait marked by a tendency to get along well with others, were less likely to experience these conditions. These associations are already well understood from a psychiatric perspective, but Levey’s findings provide additional genetic confirmation.

Priya Gupta, PhD, postdoctoral associate in Levey’s lab and first author of the manuscript, says that “although genetics are largely beyond our control, gaining a deeper understanding of our personality traits can help us become more aware of potential mental health risks and develop effective coping strategies to address these risks.”

But just because there is a genetic basis for the associations between personality traits and certain mental health conditions, it doesn’t mean that those associations last a lifetime, Levey says.

“Your personality will adapt and change over time, so there’s a temporal relationship which we’re not necessarily capturing with the cross-sectional way we’re looking at personality in our study,” he says. “Just because we’re finding these genetic variations doesn’t mean that these are things that are fated that you can’t change about your life.”

Levey hopes that personality studies such as these might one day be useful in informing early treatment for mental health conditions.

“When you’re looking at these personality traits that are more predisposed to later developing mental illness, that could be a prodromal [a period of subclinical symptoms] look at who might be at higher risk, and then maybe it might be grounds for intervention,” he says. “Even if we can measure genetically the associations to traits like neuroticism, that doesn’t mean that you can’t alter your strategies for dealing with life in ways that could help you achieve better outcomes.”

genetic testing, consumer genomics, direct-to-consumer testing, DNA sequencing, personalized medicine, genetic counseling, ancestry testing, carrier screening, pharmacogenomics, hereditary disease risk, whole-genome sequencing, molecular diagnostics, genotyping technologies, health genomics, predictive analytics, clinical genomics, genome editing, bioinformatics tools, nutrigenomics, polygenic risk scores

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January 24, 2025

Genetic Testing and Genomics Market

Predictive Genetic Testing and Consumer Genomics Market Research 2024-2034



Dublin, Jan. 23, 2025 (GLOBE NEWSWIRE) -- The "Predictive Genetic Testing and Consumer Genomics Market by Test, Application, by End-User, and By Region" report has been added to ResearchAndMarkets.com's offering.

The global predictive genetic testing and consumer genomics market size was estimated to be USD 4.77 billion in 2023 and is expected to reach USD 17.16 billion by 2034 with a CAGR of 12.34% during the forecast period 2024-2034

The consumer genomics and predictive genetic testing market is expected to grow due to expanding direct-to-consumer (DTC) genetic testing, consumer interest in personalized healthcare, consumer awareness of early disease detection and prevention, and strategic alliances and collaborations.



For instance, in August 2024, FDA approval of Illumina's TruSightT Oncology (TSO) Comprehensive test is poised to be a significant driver in the predictive genetic testing and consumer genomics market. This in vitro diagnostic (IVD) test, capable of analyzing over 500 genes, enhances the ability to identify actionable biomarkers in solid tumors, thereby facilitating targeted therapy options and clinical trial enrollment.

By being approved as a companion diagnostic (CDx) for patients with neurotrophic tyrosine receptor kinase (NTRK) gene fusions, the TSO Comprehensive test exemplifies the expanding role of genomic profiling in personalized medicine, meeting the growing demand for precision oncology. This advancement not only highlights the increasing reliance on genetic testing for tailored therapeutic strategies but also reflects the broader trend of integrating comprehensive genomic tools into clinical practice, significantly boosting market potential.

North American region is anticipated for the highest revenue share during the forecast period owing to the presence of advanced healthcare infrastructure, high adoption of predictive genetic testing, significant investments in genomics research, and the strong presence of key market players like 23andMe and Myriad Genetics.

Additionally, the Asia Pacific region is predicted to grow at the fastest CAGR during the forecast period owing to the increasing healthcare expenditure, growing awareness of genetic testing, expanding middle-class population, and supportive government initiatives for precision medicine and genomics in countries like China, India, and Japan.

For instance, in April 2024, MassMutual, a top mutual life insurance provider in the US, and Genomics plc (Genomics), a healthcare company transforming health through the power of genomics, announced the next phase of their innovative partnership, which will allow more eligible MassMutual policyowners to learn about their health and take proactive steps to make decisions that could help them live longer, healthier lives.

By test, the predictive testing segment accounted for the highest revenue-grossing segment in the global predictive genetic testing and consumer genomics market in 2023 owing to the increasing demand for early detection and prevention of diseases, particularly hereditary conditions such as cancer and cardiovascular diseases, as well as advancements in genetic technologies like next-generation sequencing.

For instance, in August 2024, Myriad Genetics declared that the sale of its EndoPredict business unit to Eurobio Scientific, a French provider of in-vitro diagnostics and life sciences solutions, had been completed. EndoPredict is a predictive diagnostic tool that helps patients identify those who can safely forego chemotherapy by predicting their chance of return of breast cancer. Myriad Genetics has granted Eurobio Scientific the exclusive license to sell Polaris in-vitro diagnostic (IVD) kits in international markets as part of this initiative. Additionally, the consumer genomics segment is predicted to grow at the fastest CAGR during the forecast period owing to the rising consumer interest in personalized healthcare, increased awareness of genetic testing, and the expanding availability of direct-to-consumer genetic testing kits from companies like 23andMe and AncestryDNA.

By application, the breast & ovarian cancer segment accounted for the highest revenue-grossing segment in the global predictive genetic testing and consumer genomics market in 2023 and is predicted to grow at the fastest CAGR during the forecast period owing to the high prevalence of these cancers and the increasing use of predictive genetic tests, such as BRCA1 and BRCA2, to assess cancer risk and guide preventive healthcare decisions.

For instance, 23andMe announced in July 2024 that it would be collaborating with 20 eminent lung cancer advocacy institutes to begin a comprehensive study aimed at advancing lung cancer research. The primary goal of the Lung Cancer Genetics Study is to gain a better understanding of the genetic makeup of individuals with lung cancer in order to enhance patient care, guarantee a decrease in risk, and enhance detection of the disease.

By end-user, the hospitals segment accounted for the highest revenue-grossing segment in the global predictive genetic testing and consumer genomics market in 2023 owing to the wide adoption of predictive genetic testing in hospitals for early disease diagnosis and management, supported by advanced laboratory infrastructure and access to a large patient pool.

For instance, in April 2024, Nigeria-based Syndicate Bio has agreed to use MSK-ACCESS powered by SOPHiA DDMTM, according to a statement released by SOPHiA GENETICS, a cloud-native software provider in the healthcare industry and a pioneer in data-driven medicine. Syndicate Bio is the first laboratory in Africa to use the SOPHiA DDMTM Platform to perform the MSK-ACCESS assay. It is also the first business to offer liquid biopsy and comprehensive genomic profiling to patients across the continent.

By putting this innovative technology into practice, SOPHiA GENETICS, Memorial Sloan Kettering Cancer Center (MSK), and Syndicate Bio will continue to improve global health equity through their ongoing efforts. Additionally, the ambulatory surgical center segment is predicted to grow at the fastest CAGR during the forecast period owing to the growing shift toward outpatient settings for genetic testing services, offering cost-effective, quick, and accessible testing options for patients outside traditional hospital environments.

genetic testing, consumer genomics, direct-to-consumer testing, DNA sequencing, personalized medicine, genetic counseling, ancestry testing, carrier screening, pharmacogenomics, hereditary disease risk, whole-genome sequencing, molecular diagnostics, genotyping technologies, health genomics, predictive analytics, clinical genomics, genome editing, bioinformatics tools, nutrigenomics, polygenic risk scores

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January 23, 2025

The Noble Prize 2024

The Nobel Prize in Physiology or Medicine 2024




The Nobel Assembly at Karolinska Institutet has today decided to award the 2024 Nobel Prize in Physiology or Medicine jointly to Victor Ambros and Gary Ruvkun for the discovery of microRNA and its role in post-transcriptional gene regulation.

This year’s Nobel Prize honors two scientists for their discovery of a fundamental principle governing how gene activity is regulated.

The information stored within our chromosomes can be likened to an instruction manual for all cells in our body. Every cell contains the same chromosomes, so every cell contains exactly the same set of genes and exactly the same set of instructions. Yet, different cell types, such as muscle and nerve cells, have very distinct characteristics. How do these differences arise? The answer lies in gene regulation, which allows each cell to select only the relevant instructions. This ensures that only the correct set of genes is active in each cell type.

Victor Ambros and Gary Ruvkun were interested in how different cell types develop. They discovered microRNA, a new class of tiny RNA molecules that play a crucial role in gene regulation. Their groundbreaking discovery revealed a completely new principle of gene regulation that turned out to be essential for multicellular organisms, including humans. It is now known that the human genome codes for over one thousand microRNAs. Their surprising discovery revealed an entirely new dimension to gene regulation. MicroRNAs are proving to be fundamentally important for how organisms develop and function.

Essential regulation

This year’s Nobel Prize focuses on the discovery of a vital regulatory mechanism used in cells to control gene activity. Genetic information flows from DNA to messenger RNA (mRNA), via a process called transcription, and then on to the cellular machinery for protein production. There, mRNAs are translated so that proteins are made according to the genetic instructions stored in DNA. Since the mid-20th century, several of the most fundamental scientific discoveries have explained how these processes work.

Our organs and tissues consist of many different cell types, all with identical genetic information stored in their DNA. However, these different cells express unique sets of proteins. How is this possible? The answer lies in the precise regulation of gene activity so that only the correct set of genes is active in each specific cell type. This enables, for example, muscle cells, intestinal cells, and different types of nerve cells to perform their specialized functions. In addition, gene activity must be continually fine-tuned to adapt cellular functions to changing conditions in our bodies and environment. If gene regulation goes awry, it can lead to serious diseases such as cancer, diabetes, or autoimmunity. Therefore, understanding the regulation of gene activity has been an important goal for many decades.



In the 1960s, it was shown that specialized proteins, known as transcription factors, can bind to specific regions in DNA and control the flow of genetic information by determining which mRNAs are produced. Since then, thousands of transcription factors have been identified, and for a long time it was believed that the main principles of gene regulation had been solved. However, in 1993, this year’s Nobel laureates published unexpected findings describing a new level of gene regulation, which turned out to be highly significant and conserved throughout evolution.

Research on a small worm leads to a big breakthrough

In the late 1980s, Victor Ambros and Gary Ruvkun were postdoctoral fellows in the laboratory of Robert Horvitz, who was awarded the Nobel Prize in 2002, alongside Sydney Brenner and John Sulston. In Horvitz’s laboratory, they studied a relatively unassuming 1 mm long roundworm, C. elegans. Despite its small size, C. elegans possesses many specialized cell types such as nerve and muscle cells also found in larger, more complex animals, making it a useful model for investigating how tissues develop and mature in multicellular organisms. Ambros and Ruvkun were interested in genes that control the timing of activation of different genetic programs, ensuring that various cell types develop at the right time. They studied two mutant strains of worms, lin-4 and lin-14, that displayed defects in the timing of activation of genetic programs during development. The laureates wanted to identify the mutated genes and understand their function. Ambros had previously shown that the lin-4 gene appeared to be a negative regulator of the lin-14 gene. However, how the lin-14 activity was blocked was unknown. Ambros and Ruvkun were intrigued by these mutants and their potential relationship and set out to resolve these mysteries.


After his postdoctoral research, Victor Ambros analyzed the lin-4 mutant in his newly established laboratory at Harvard University. Methodical mapping allowed the cloning of the gene and led to an unexpected finding. The lin-4 gene produced an unusually short RNA molecule that lacked a code for protein production. These surprising results suggested that this small RNA from lin-4 was responsible for inhibiting lin-14.

How might this work?

Concurrently, Gary Ruvkun investigated the regulation of the lin-14 gene in his newly established laboratory at Massachusetts General Hospital and Harvard Medical School. Unlike how gene regulation was then known to function, Ruvkun showed that it is not the production of mRNA from lin-14 that is inhibited by lin-4. The regulation appeared to occur at a later stage in the process of gene expression, through the shutdown of protein production. Experiments also revealed a segment in lin-14 mRNA that was necessary for its inhibition by lin-4. The two laureates compared their findings, which resulted in a breakthrough discovery. The short lin-4 sequence matched complementary sequences in the critical segment of the lin-14 mRNA. Ambros and Ruvkun performed further experiments showing that the lin-4 microRNA turns off lin-14 by binding to the complementary sequences in its mRNA, blocking the production of lin-14 protein. A new principle of gene regulation, mediated by a previously unknown type of RNA, microRNA, had been discovered! The results were published in 1993 in two articles in the journal Cell.

The published results were initially met with almost deafening silence from the scientific community. Although the results were interesting, the unusual mechanism of gene regulation was considered a peculiarity of C. elegans, likely irrelevant to humans and other more complex animals. That perception changed in 2000 when Ruvkun’s research group published their discovery of another microRNA, encoded by the let-7 gene. Unlike lin-4, the let-7 gene was highly conserved and present throughout the animal kingdom. The article sparked great interest, and over the following years, hundreds of different microRNAs were identified. Today, we know that there are more than a thousand genes for different microRNAs in humans, and that gene regulation by microRNA is universal among multicellular organisms.


Ruvkun cloned let-7, a second gene encoding a microRNA. The gene is conserved in evolution, and it is now known that microRNA regulation is universal among multicellular organisms. © The Nobel Committee for Physiology or Medicine. Ill. Mattias Karlén

In addition to the mapping of new microRNAs, experiments by several research groups elucidated the mechanisms of how microRNAs are produced and delivered to complementary target sequences in regulated mRNAs. The binding of microRNA leads to inhibition of protein synthesis or to mRNA degradation. Intriguingly, a single microRNA can regulate the expression of many different genes, and conversely, a single gene can be regulated by multiple microRNAs, thereby coordinating and fine-tuning entire networks of genes.

Cellular machinery for producing functional microRNAs is also employed to produce other small RNA molecules in both plants and animals, for example as a means of protecting plants against virus infections. Andrew Z. Fire and Craig C. Mello, awarded the Nobel Prize in 2006, described RNA interference, where specific mRNA-molecules are inactivated by adding double-stranded RNA to cells.

Tiny RNAs with profound physiological importance

Gene regulation by microRNA, first revealed by Ambros and Ruvkun, has been at work for hundreds of millions of years. This mechanism has enabled the evolution of increasingly complex organisms. We know from genetic research that cells and tissues do not develop normally without microRNAs. Abnormal regulation by microRNA can contribute to cancer, and mutations in genes coding for microRNAs have been found in humans, causing conditions such as congenital hearing loss, eye and skeletal disorders. Mutations in one of the proteins required for microRNA production result in the DICER1 syndrome, a rare but severe syndrome linked to cancer in various organs and tissues.

Ambros and Ruvkun’s seminal discovery in the small worm C. elegans was unexpected, and revealed a new dimension to gene regulation, essential for all complex life forms.


The seminal discovery of microRNAs was unexpected and revealed a new dimension of gene regulation.

mRNA technology, CRISPR-Cas9, immunotherapy, genome editing, vaccine development, cellular mechanisms, personalized medicine, therapeutic breakthroughs, genetic engineering, molecular biology, biomedical research, clinical applications, scientific discovery, infectious diseases, antiviral strategies, cellular reprogramming, biotechnology innovations, translational medicine, oncogenes

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International Conference on Genetics and Genomics of Diseases 




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January 21, 2025

Forensic genetic detectives

Forensic genetic detectives of Hyderabad crack Tamil Nadu monitor lizard case


The CCMB researchers said that forensic genetic evidence is a powerful tool to secure convictions in wildlife crimes.

The forensic genetic detectives of Hyderabad have uncovered a wildlife crime involving the mystery of occult and how the gullible can be taken for a ride by poachers. The DNA investigators in Hyderabad received small pieces of plant material for analysis. It turned out that the plant materials were, in reality, the gonads of male Bengal monitor lizard, which was killed by the poachers in Tamil Nadu.

Published as a case study in Springer Nature (September, 2024), the group of researchers from Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), through their DNA analysis, helped investigators from Tamil Nadu to unravel the mystery and prosecute the poachers.

The poachers harvested the forked penises of monitor lizards and fraudulently sold them to individuals as the roots of a very rare plant Martynia annua, which are used in occult practices by believers. The poachers modified the penises of monitor lizards to resemble the plant roots, (which look like folded hands), and made it even more complex for investigators to make an accurate identification.

The CCMB researchers said that forensic genetic evidence is a powerful tool to secure convictions in wildlife crimes. “The bifurcated hemipenes (gonads) of any of the four species of Monitor lizards found in India are illegally traded under the name ‘Hatha Jodi’ (a plant root from Martynia annua). A rare plant root is misrepresented as a powerful charm capable of bringing property and good fortune to its possessor. As a result, there is a suspected large-scale poaching of monitors in India to fuel the trade of ‘Hatha Jodi’,” the CCMB researchers in the paper said.

Monitor lizards are copiously poached for their meat, which is considered a delicacy and assumed to have medicinal properties. Studies have documented that the products prepared from the monitor lizards are used to treat various diseases, i.e., asthma, haemorrhoids, rheumatism, and arthritis. The genital organs from Monitor lizards are traded in the name of ‘Hatha Jodi’, the root of the Tiger’s Claw plant and used for human welfare, the researchers said.

Forensic genetics, DNA analysis, crime scene investigation, genetic profiling, forensic science, DNA database, familial DNA search, genealogical research, ancestry tracing, cold case resolution, genetic genealogy, forensic DNA phenotyping, law enforcement, missing persons identification, human identification, crime investigation technology, forensic anthropology, forensic biochemistry, kinship analysis, legal genetics,

#ForensicGenetics, #DNAAnalysis, #CrimeSceneInvestigation, #GeneticProfiling, #ForensicScience, #DNADatabase, #FamilialSearch, #GenealogyResearch, #AncestryTracing, #ColdCaseResolution, #GeneticGenealogy, #DNAPhenotyping, #LawEnforcement, #MissingPersons, #HumanIdentification, #CrimeTech, #ForensicAnthropology, #ForensicBiochemistry, #KinshipAnalysis, #LegalGenetics


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