Genetic Susceptibility

High muscle strength can prevent type 2 diabetes regardless of genetic susceptibility

Researchers from the School of Public Health, LKS Faculty of Medicine of the University of Hong Kong (HKUMed) conducted a large-scale epidemiological study to explore the potential health benefits of high muscle strength in preventing type 2 diabetes (T2D) across varying levels of genetic risk.

The study found that higher muscle strength was associated with over 40% lower risk of T2D, regardless of genetic susceptibility to T2D. The study highlights the importance of maintaining or improving muscle strength as a key strategy for preventing T2D. The findings were published in BMC Medicine.

T2D is one of the most common chronic metabolic disorders, and it is associated with an increased risk of various complications, including heart disease, stroke, high blood pressure, and narrowing of blood vessels. It is characterized by elevated blood sugar levels, also known as hyperglycemia, due to insulin resistance and impaired insulin secretion.

Evidence suggests that around 10% of the global population is affected by T2D, therefore, preventing T2D is a significant global public health concern. T2D can be caused by the interplay between non-modifiable genetic traits and modifiable lifestyle factors. Muscle strength is an important aspect of muscular fitness, and it has been found to be associated with lower risk of various cardiometabolic diseases including T2D.

However, it remains unclear whether improving muscle strength should be considered a T2D prevention strategy in individuals with varying levels of genetic susceptibility to T2D, particularly those with high genetic susceptibility to T2D.

Research methods and findings

The research utilized data of 141,848 white British individuals without baseline T2D from the UK Biobank, an ongoing prospective cohort of over 500,000 U.K. adults which includes extensive genotype and phenotype information. Muscle strength was assessed in the form of grip strength. Genetic risk of T2D was estimated based on 138 known genetic variants for T2D.

The participants were followed up for more than seven years. During the follow-up period, 4,743 new T2D cases were identified. The findings indicated that, compared with low muscle strength, individuals with high muscle strength was associated with a 44% lower relative risk of developing T2D, even after taking into account T2D genetic risk as well as other risk factors.

Moreover, the research team observed evidence of an interaction between muscle strength and genetic susceptibility to T2D, suggesting that muscle strength may play a role in modifying the impact of genetic risk to T2D onset. The findings further revealed that individuals at high genetic risk of T2D but with high muscle strength could have a lower absolute risk of T2D, compared with those at low or medium genetic risk but with low muscle strength.

This study uncovered the first-ever prospective associations between muscle strength, genetic susceptibility to type 2 diabetes, and the risk of developing the disease. "The findings emphasize the crucial role of maintaining or enhancing muscle strength as a key strategy for preventing T2D in middle-aged and older adults, regardless of their genetic risk levels and including those at high genetic risk.

"We believe that these results offer novel insights into the significant impact of higher muscle strength on metabolic health," said Dr. Wang Mengyao, from the School of Public Health at HKUMed, the first author of this study.

"This study highlights the significance of Biobank studies in examining the interaction between exposures and genetics in influencing the risk of T2D. Further research utilizing ethnic-specific Biobank studies is needed to determine if these findings are applicable to other populations, such as East Asians," said Professor Ryan Au Yeung, Assistant Professor from the School of Public Health at HKUMed, a co-author of this study.

"Individuals in middle-to-late life are at increased risk of type 2 diabetes. However, our study has demonstrated the potential roles of high muscle strength in preventing the future risk of developing type 2 diabetes not only in all individuals, but also in individuals with high genetic predisposition to type 2 diabetes.

"Our study supports the current public health guidelines which suggest that adults should engage in muscle-strengthening activities for at least two days per week from a disease prevention perspective," added Professor Youngwon Kim, from the School of Public Health at HKUMed, the corresponding author of the study.

Genetic disorder, inherited disease, mutation, DNA sequencing, chromosomal abnormality, gene therapy, rare disease, hereditary condition, genetic screening, precision medicine, Mendelian disorder, genomic research, personalized treatment, epigenetics, autosomal recessive, autosomal dominant, next-generation sequencing, genetic counseling, gene expression, pathogenic variant

#GeneticDisorder, #InheritedDisease, #Mutation, #DNASequencing, #ChromosomalAbnormality, #GeneTherapy, #RareDisease, #HereditaryCondition, #GeneticScreening, #PrecisionMedicine, #MendelianDisorder, #GenomicResearch, #PersonalizedTreatment, #Epigenetics, #AutosomalRecessive, #AutosomalDominant, #NextGenSequencing, #GeneticCounseling, #GeneExpression, #PathogenicVariant

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Kids with Down syndrome

Kids with Down syndrome can live 'abundant lives,' dad tells Fox News contributor

Fox News contributor Tom Shillue speaks to the dad of a child with Down syndrome on World Down Syndrome Day. Each year on March 21, World Down Syndrome Day (WDSD) marks a global day of awareness and education about the genetic condition.

The goal is to "help people understand and support those with Down syndrome better," according to the initiative's website. WDSD has been officially observed by the United Nations since 2012. On Friday, Fox News contributor Tom Shillue headed to Times Square in New York City to speak with New Yorkers about their awareness of WDSD. (See the video at the top of this article.)

Shillue spoke with Daniel Schreck, chairman of the Jérôme Lejeune Foundation, a global nonprofit focused on research and advocacy for people with genetic intellectual disabilities. Schreck also has a daughter with Down syndrome. When asked about common fears or misunderstandings about the condition, Schreck spoke of the perceived limitations. "I think the most important thing is that if you have Down syndrome, just like any other disability, you can live an abundant life and there's nothing to be afraid of," he said.

FAMILY OF CHILD WITH DOWN SYNDROME WENT FROM SHOCK TO GRATITUDE: ‘LOST THE AIR IN MY CHEST’

"Plus, people with Down's syndrome are the happiest people you've ever met. So there's nothing to be afraid of." The date of WDSD, the 21st day of the third month, was chosen to commemorate the triplication (trisomy) of the 21st chromosome, which is the cause of Down syndrome. Down syndrome is the most common chromosomal condition.

Down syndrome, trisomy 21, genetic disorder, intellectual disability, developmental delay, chromosomal abnormality, hypotonia, congenital heart disease, speech therapy, occupational therapy, early intervention, inclusive education, special needs, genetic counseling, physical therapy, facial features, prenatal screening, cognitive development, social inclusion, adaptive skills,

#DownSyndrome #Trisomy21 #GeneticDisorder #IntellectualDisability #DevelopmentalDelay #SpecialNeeds #InclusiveEducation #EarlyIntervention #SpeechTherapy #OccupationalTherapy #PhysicalTherapy #GeneticCounseling #SocialInclusion #CognitiveDevelopment #AdaptiveSkills #Hypotonia #CongenitalHeartDisease #PrenatalScreening #ChromosomalAbnormality #DownSyndromeAwareness

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Coding Mutations to Meningomyelocele

The contribution of de novo coding mutations to meningomyelocele

Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting.

A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained. We postulated that de novo mutations under purifying selection contribute to the risk of developing meningomyelocele. Here we recruited a cohort of 851 meningomyelocele trios who required shunting at birth and 732 control trios, and found that de novo likely gene disruption or damaging missense mutations occurred in approximately 22.3% of subjects, with 28% of such variants estimated to contribute to disease risk.

The 187 genes with damaging de novo mutations collectively define networks including actin cytoskeleton and microtubule-based processes, Netrin-1 signalling and chromatin-modifying enzymes. Gene validation demonstrated partial or complete loss of function, impaired signalling and defective closure of the neural tube in Xenopus embryos. Our results indicate that de novo mutations make key contributions to meningomyelocele risk, and highlight critical pathways required for neural tube closure in human embryogenesis.

Mutations, Genetic Variability, DNA Alterations, Genomic Instability, Somatic Mutations, Germline Mutations, Point Mutation, Frameshift Mutation, Missense Mutation, Nonsense Mutation, Silent Mutation, Deletion Mutation, Insertion Mutation, Duplication Mutation, Chromosomal Aberrations, Single Nucleotide Polymorphism (SNP), Mutagenesis, Oncogenic Mutations, Hereditary Mutations, Evolutionary Adaptation

#Mutations #Genetics #DNAChanges #GenomicInstability #SomaticMutation #GermlineMutation #PointMutation #FrameshiftMutation #MissenseMutation #NonsenseMutation #SilentMutation #DeletionMutation #InsertionMutation #DuplicationMutation #ChromosomalMutation #SNP #Mutagenesis #OncogenicMutation #HereditaryMutation #Evolution

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Healthcare startups

Healthcare startups to see surge in M&A as funding dries up

Healthcare startups are set for increased mergers and acquisitions in 2025, driven by cash-strapped firms, declining revenue multiples, and investor caution, particularly in diagnostics and care delivery.

Healthcare startups are poised for increased mergers and acquisitions (M&A) in the current calendar year as revenue multiples decline and cash-strapped firms struggle in a tight funding market, according to early-stage healthcare-focused investment firm W Health Ventures.

The consolidation wave is expected to be most pronounced in diagnostics, where large pathology chains are likely to acquire smaller, hyperlocal labs and radiology centres to expand their geographic reach. Care delivery companies specialising in single fields such as IVF, eyecare, and oncology may also see exits, with promoters selling to private equity-backed platforms, said Namit Chugh, principal at W Health Ventures.

Investor caution has left many healthcare startups strapped for cash. Funding in the sector remained at nearly half of the average levels seen in 2021 and 2022, as backers waited for firms to achieve product-market fit before committing capital. As a result, 70% of early-stage healthcare startups have not raised a funding round since then, W Health Ventures said in a report on India’s healthcare ecosystem.

“A large number of healthcare startups with low cash reserves will become lucrative acquisition targets,” Chugh said. Late-stage, well-funded startups and global private equity firms are expected to drive most of the deal-making. With revenue multiples in private markets down by 60% from 2022 levels, acquisitions are now significantly more attractive for buyers.

Earlier this year, Wysa, an AI-powered mental health chatbot backed by W Health Ventures, merged with US-based April Health to integrate AI-driven mental health support into primary care, signaling a trend of strategic tie-ups.

Among different M&A models, acqui-hiring —where talent is acquired rather than just the business — could gain traction, offering startups an opportunity to expand service lines while securing high-quality, experienced teams. “We foresee more such transactions in 2025, including acquisitions via our portfolio companies,” W Health Ventures stated.

While consolidation accelerates in diagnostics and care delivery, quick-commerce healthcare ventures may struggle. Pharmacy quick-commerce startups face intensifying competition, which could lead to aggressive cash burn through speed and discount wars against local pharmacies. Inventory management challenges and regulatory compliance hurdles further compound the risks.

“By the end of 2025, we anticipate that at least a few q-commerce healthcare players will lose this race,” the report said. “The real question remains — aside from critical patients, does anyone really need medicines in ten minutes?”

Since 2021, W Health Ventures has been investing from its $100-million Fund I in startups such as BeatO, a personalised diabetes management platform; Mylo, a parenting community; AI-guided mental health firm Wysa; and Reveal Healthtech, which provides AI and engineering services to the healthcare industry. The firm is currently raising its second fund, targeting another $100 million.

Healthcare, medical research, patient care, public health, disease prevention, clinical trials, health technology, digital health, telemedicine, medical innovation, epidemiology, healthcare policy, mental health, precision medicine, biomedical science, health informatics, global health, personalized medicine, healthcare management, regenerative medicine,

#Healthcare #MedicalResearch #PatientCare #PublicHealth #DiseasePrevention #ClinicalTrials #HealthTech #DigitalHealth #Telemedicine #MedicalInnovation #Epidemiology #HealthcarePolicy #MentalHealth #PrecisionMedicine #BiomedicalScience #HealthInformatics #GlobalHealth #PersonalizedMedicine #HealthcareManagement #RegenerativeMedicine

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Cell Division

How chromosomes shape up for cell division

Among the many marvels of life is the cell’s ability to divide and thus enable organisms to grow and renew themselves. For this, the cell must duplicate its DNA – its genome – and segregate it equally into two new daughter cells. To prepare the 46 chromosomes of a human cell for transport to the daughter cells during cell division, each chromosome forms a compact X-shaped structure with two rod-like copies. How the cell achieves this feat remains largely unknown.

Now, for the first time, EMBL scientists have directly observed this process in high resolution under the microscope using a new chromatin tracing method. The new study shows that the long DNA molecules of each chromosome form a series of overlapping loops during cell division that repel each other. As a result of this repulsion, the DNA loops then stack up to form rod-shaped chromosomes.

Tracing chromosomal DNA in high resolution

Scientists have long hypothesised the importance of DNA loops in building and maintaining chromosomal structure. First identified in the 1990s, condensins are large protein complexes that bind DNA during cell division and extrude it to create loops of varying sizes. Previous studies from EMBL have shed light on the structural mechanics of this process and their essential role in packing chromosomes into forms that can be easily moved between cells.

In fact, mutations in condensin structure can result in severe chromosome segregation defects and lead to cell death, cancer formation, or rare developmental disorders called ‘condensinopathies'.

“However, observing how this looping process occurs on the cellular scale and contributes to chromosome structure is challenging,” said Andreas Brunner, postdoc in EMBL Heidelberg's Ellenberg Group and a lead author of the new paper. “This is because methods for visualising DNA with high resolution are usually chemically harsh and require high temperatures, which together disrupt the native structure of DNA.”

Kai Beckwith – former postdoc in the Ellenberg Group and currently an associate professor at the Norwegian University of Science and Technology (NTNU) – set out to solve this problem. Beckwith and colleagues used a method to gently remove one strand of DNA in cells at various stages of cell division, keeping the chromosome structure intact. They could then use targeted sets of DNA-binding labels to observe the nanoscale organisation of this uncovered DNA strand. This technique, called LoopTrace, helped the researchers directly observe DNA in dividing cells as it progressively formed loops and folds.

“Andreas and I were now able to visualise the structure of chromosomes as they started to change shape,” said Beckwith. “This was crucial for understanding how the DNA was folded by the condensin complexes.”

Loops within loops

From their data, the scientists realised that during cell division, DNA forms loops in two stages. First, it forms stable large loops, which then subdivide into smaller, short-lived nested loops, increasing the compaction at each stage. Two types of condensin protein complexes enable this process.

To understand how this looping eventually gives rise to rod-shaped chromosomes, the researchers built a computational model based on two simple assumptions. First, as observed, DNA forms overlapping loops – first large and then small – across its length with the help of Condensins. Second, these loops repel each other due to their structure and the chemistry of DNA. When the scientists fed these two assumptions into their model, they found that this was sufficient to give rise to a rod-shaped chromosome structure.

“We realised that these condensin-driven loops are much larger than previously thought, and that it was very important that the large loops overlap to a significant extent”, said Beckwith. “Only these features allowed us to recapitulate the native structure of mitotic chromosomes in our model and understand how they can be segregated during cell division.”

In the future, the researchers plan to study this process in more detail, especially to understand how additional factors, such as molecular regulators, affect this compaction process. In 2024, Jan Ellenberg and his team received funding of €3.1 million as an ERC Advanced Grant, to study the folding principles of chromosomes during and following cell division.

“Our newest paper published in the scientific journal Cell marks a milestone in our understanding of how the cell is able to pack chromosomes for their accurate segregation into daughter cells,” said Jan Ellenberg, Senior Scientist at EMBL Heidelberg. “It will be the basis to understand the molecular mechanism of rescaling the genome for faithful inheritance and thus rationally predict how errors in this process that underlie human disease could be prevented in the future.”

In the meantime, a second study from the Ellenberg Team, led by Andreas Brunner and recently published in the Journal of Cell Biology, shows that the nested loop mechanism is fundamental to the biology of cells, and continues during the cell’s growth phase with another family of DNA loop forming protein complexes, called cohesins.

“We were surprised to find that the same core principle of sequential and hierarchical DNA loop formation is used to either tightly pack chromosomes during division into safely movable entities, or to unpack them afterwards to read out the information they contain,” said Ellenberg. “In the end, small, but key mechanistic differences, such as the non-overlapping nature of cohesin-driven loops compared to the strongly overlapping condensin-driven loops might be sufficient to explain the vast differences that we see in the shape the genome takes in interphase and mitosis under the microscope.”

Cell cycle, mitosis, meiosis, cytokinesis, chromatin, chromosome, centromere, spindle fibers, metaphase, anaphase, telophase, prophase, interphase, cell growth, DNA replication, sister chromatids, mitotic spindle, cell differentiation, genetic material, cell regulation

#CellDivision, #Mitosis, #Meiosis, #Cytokinesis, #Chromosome, #DNAReplication, #Genetics, #SpindleFibers, #Interphase, #Prophase, #Metaphase, #Anaphase, #Telophase, #CellCycle, #SisterChromatids, #MitoticSpindle, #CellGrowth, #GeneticMaterial, #CellBiology, #CellRegulation


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Genomics-Based Cancer Care

Delivering genomics-based cancer care for every community

Genomics has the power to transform cancer care, but only if it is implemented equitably and inclusively.

Australia has the world’s best cancer outcomes, but certain populations — including Aboriginal and Torres Strait Islander people, those living in rural and remote areas, culturally and linguistically diverse groups, and people with rare cancers — do not share this experience and have limited access to cutting-edge technologies. Addressing these disparities requires a multifaceted approach.

Recognising the critical importance of genomics in cancer care, the Australian Government launched the National Framework for Genomics in Cancer Control in February 2025 as a key action of the Australian Cancer Plan. The vision of this framework is clear: to integrate cancer genomics into routine clinical practice as the standard of care while ensuring accessibility, cultural safety and equity across the cancer care continuum. Together with the upcoming launch of Genomics Australia, we have a significant opportunity to align efforts and accelerate the integration of genomics in cancer care.

Last month, the Australian Government announced the establishment of a $3 million Cancer Genomics Clinical Trials Fund to drive advancements in genomic medicine and ensure equitable access to cancer clinical trials incorporating genomics. This new fund is a significant first step in implementing the framework and addressing key objectives for genomics-informed diagnosis, treatment, clinical trials, research and data.

The role of genomics in cancer care

Cancer is fundamentally a disease of the genome, involving mutations in DNA that can lead to uncontrolled cell growth. With advances in technology, we can identify genetic predispositions to cancer, enabling early intervention and personalised risk-reduction strategies. Genomic testing can also help determine the most effective, least toxic treatment plans, improving patient outcomes and quality of life.

The need for genomic literacy in cancer care

While the rapid advancement of genomics offers exciting possibilities, it also presents challenges, including the need for improved genomics literacy among both health care professionals and the broader public.

The volume of available information on genomics is expanding rapidly. It is crucial that patients can access accurate, reliable and evidence-based information and that medical professionals remain a trusted source for genomics guidance. This includes an understanding of the germline and somatic testing, the role of cascade testing, and the types of genomic testing, including whole genome sequencing, panel testing and tumour mutational burden.

To support clinicians in navigating these complexities, resources such as the eviQ referral guidelines for cancer genetics assessment are essential. By equipping health professionals with practical tools, we can improve personalised prevention, risk-reducing strategies, early detection and personalised treatment plans, ultimately leading to better patient outcomes.

Addressing equity: ensuring genomics benefits all Australians

Equity in cancer care is a fundamental measure of success under the framework. Without intentional efforts to improve access, there is a risk that genomic advancements will exacerbate existing health care inequities.

Ensuring culturally safe genomics-guided cancer care is a priority. This requires ongoing consultation and collaboration with Aboriginal and Torres Strait Islander communities who have higher cancer mortality rates and face barriers in accessing genomics-informed care.

In 2024, Cancer Australia conducted in-person workshops with Aboriginal and Torres Strait Islander community members, cancer patients, health care providers and community-controlled health services. These consultations reinforced the importance of self-determination, culture, capacity building, and access in shaping the future of cancer genomics care.

Moving forward: what needs to happen next?

The launch of the framework is just the beginning. Successful implementation requires a coordinated effort from the entire health care sector, including governments, researchers, health care providers, and advocacy groups.

Cancer Australia has identified four key priorities for implementation:

Integration into routine clinical practice

• Establishing genomics as a standard component of cancer care to enable personalised cancer prevention and early detection and to guide treatment decisions.
• Ensuring evidence-based genomic testing is available and accessible to patients regardless of geographic location or socio-economic status.
• Promoting translational research and enabling timely access to genomics-informed cancer treatments through Health Technology Assessment processes and clinical trials.

Public awareness and workforce education and training

• Enhancing genomics literacy among all health care professionals to ensure clinicians are confident in using genomics to guide cancer prevention and treatment.
• Developing community awareness campaigns about cancer genomics and co-designing resources with priority populations and consumers.
• Driving system level changes relating to cultural safety, with education for health providers that acknowledges the complex history of genomics for Aboriginal and Torres Strait Islander people.

Data and research

• Strengthening data-sharing capabilities to maximise the benefits of genomics research and improve real-world applications.
• Ensuring cancer genomic research and data are representative of population diversity, underpinned by Indigenous data sovereignty principles.

Equity and cultural safety

• Developing tools for the specialist cancer workforce and primary care, including Aboriginal Community Controlled Health Services, to support shared decision making with patients about the use of genomics in cancer care.
• Providing Aboriginal and Torres Strait Islander people and other priority populations with holistic navigation support and wrap-around personalised genomic cancer care.

Conclusion

Genomics has the power to transform cancer care, but only if it is implemented equitably and inclusively. The National Framework for Genomics in Cancer Control provides a roadmap for ensuring all Australians, regardless of background or location, can benefit from the latest advancements in personalised cancer care. However, achieving this vision requires commitment from the entire health care sector. Cancer Australia is committed to leading this charge, ensuring that genomics serves as a tool for better outcomes, improved patient experiences, and a more equitable cancer care for all Australians.

Genomics, DNA sequencing, genetic variation, gene expression, epigenetics, CRISPR, genome editing, bioinformatics, personalized medicine, transcriptomics, proteomics, metagenomics, population genetics, evolutionary genetics, functional genomics, structural genomics, synthetic biology, molecular diagnostics, gene therapy, pharmacogenomics,

#Genomics #DNASequencing #GeneticVariation #GeneExpression #Epigenetics #CRISPR #GenomeEditing #Bioinformatics #PersonalizedMedicine #Transcriptomics #Proteomics #Metagenomics #PopulationGenetics #EvolutionaryGenetics #FunctionalGenomics #StructuralGenomics #SyntheticBiology #MolecularDiagnostics #GeneTherapy #Pharmacogenomics

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Genes is transforming Healthcare

Genomics: how unlocking our genes is transforming healthcare

Genomics is revolutionising modern medicine. From improving cancer treatments to predicting diseases using genetic information, here are four ways our health is benefitting from genomics. Genomics has fundamentally changed how we understand health and disease. It has made incredible advances in medicine possible, allowing us to treat diseases at a genetic level and offering more personalised treatments.

This progress has not come without challenges. For example, many questions and concerns have emerged around the ethical, legal and societal contexts of genomics research. These must be openly discussed and researched so that, ultimately, everyone can feel the positive impacts of genomics research on their health.

As genomics research improves to meaningfully include everyone everywhere, we are likely to see more breakthroughs that will have implications for health. But what impact has genomics made on health so far?

What is genomics and the Human Genome Project?

Genomics is the study of the structure and function of genomes, which is the entire set of DNA in an organism. It looks at how genes interact with each other and the environment.

Genomics helps us understand which genes are linked to physical traits, but this is not always easy. Many parts of our DNA don't seem to do anything obvious, and characteristics can be influenced by many different genes. To better understand how our DNA works, scientists need data from a lot of people. This data can come from reading parts or the whole genome of a person.

The Human Genome Project, completed between 1990 and 2003, was a major step in mapping the human genome. Since then, technology has greatly improved, allowing us to sequence DNA much faster and more efficiently, creating vast amounts of genetic data.

Genome sequencing leads to better cancer treatments

Cancer treatment has traditionally been based on where the cancer is found in the body – such as breast cancer or lung cancer. Genomics changes that approach by focusing on the genetic changes that cause cancer in the first place.

Looking at the whole genome of a cancer cell allows doctors to better understand the mutations driving the cancer and choose the most effective treatment. Understanding the genetic code of cancer cells can lead to the development of drugs that can impede the cancer cells but not normal cells. It can also inhibit the enzymes that trigger cancer cell growth and halt the molecular signalling pathways that are in overdrive in cancer cells.

Currently, patients with certain mutations in lung cancer can be treated with targeted therapies that focus on the genetic changes within the cancer. Predicting and preventing diseases using polygenic risk scores


Genomics has a huge potential to predict disease. Polygenic risk scores are developed using large-scale genomics studies. They use genetic information to estimate a person’s risk of developing common diseases like heart disease, diabetes and even some cancers. Polygenic risk scores are already being trialled as an approach. These scores incorporate many small genetic changes, each contributing a little bit to the risk of a disease.

Someone with a high-risk score for heart disease may be advised to take steps to lower their risk, like adopting a healthier lifestyle or getting regular checkups. This type of personalised medicine could save lives by catching diseases early.

Genomics in action: gene therapy for genetic diseases

One of the most exciting advances in medicine is gene therapy, a treatment that changes a person’s DNA to cure or treat diseases caused by genetic mutations.

For example, gene therapy has shown promise in treating sickle cell disease, a serious inherited blood disorder. It’s caused by a mutation in the gene that helps make haemoglobin, the protein in red blood cells that carries oxygen. This mutation causes haemoglobin to stick together, forming sickle-shaped cells that can block blood flow and cause pain.

Around 100 million people worldwide carry the sickle cell trait, but the disease only occurs if both parents pass it on. In parts of Africa where the disease is common, up to 20% of people may be affected. Gene therapy can fix the faulty gene in a patient’s cells, leading to huge improvements in health. In some cases, patients have even been completely cured. This same approach could also be used to treat other genetic disorders, like cystic fibrosis or Duchenne muscular dystrophy, offering hope for new treatments.

Our improved understanding of the genome and its role in health and disease makes treatments like gene therapy possible. This is one of the many potential applications of genomics beyond prevention and diagnosis of disease.

Healthcare, Medical research, Public health, Patient care, Clinical trials, Telemedicine, Health technology, Preventive medicine, Medical innovation, Disease management, Digital health, Healthcare policy, Medical diagnostics, Precision medicine, Health informatics, Biomedical engineering, Chronic disease, Emergency medicine, Global health, Mental health

#Healthcare #MedicalResearch #PublicHealth #PatientCare #ClinicalTrials #Telemedicine #HealthTech #PreventiveMedicine #MedicalInnovation #DiseaseManagement #DigitalHealth #HealthcarePolicy #MedicalDiagnostics #PrecisionMedicine #HealthInformatics #BiomedicalEngineering #ChronicDisease #EmergencyMedicine #GlobalHealth #MentalHealth

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