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Genomics and precision medicine

Genomics and precision medicine are transforming healthcare by tailoring treatments based on an individual’s genetic profile. Advances in genome sequencing help identify genetic predispositions to diseases, enabling early intervention and targeted therapies. In oncology, precision medicine guides cancer treatment by matching patients with therapies based on tumor genetics. Pharmacogenomics optimizes drug selection, reducing side effects and improving efficacy. In nephrology and cardiology, genetic insights help manage chronic conditions more effectively. AI-driven data analysis enhances precision medicine, leading to personalized treatment plans. As research progresses, genomics continues to revolutionize medicine, improving patient outcomes through more accurate and individualized care.

Epigenetics and Gene Regulation

Epigenetics and gene regulation play a crucial role in controlling how genes are expressed without altering the DNA sequence. Epigenetic modifications, such as DNA methylation and histone modification, influence gene activity, affecting development, aging, and disease progression. Environmental factors like diet, stress, and toxins can alter epigenetic patterns, contributing to conditions such as cancer, diabetes, and neurodegenerative diseases. Understanding these mechanisms allows for the development of targeted therapies, including drugs that modify epigenetic markers to treat diseases. Epigenetics is revolutionizing precision medicine by providing insights into gene regulation, offering new approaches for diagnosing, preventing, and treating various health conditions.

Genetic Disorders and Rare Diseases

Genetic disorders and rare diseases result from mutations in genes or chromosomal abnormalities, affecting millions worldwide. Conditions like cystic fibrosis, Huntington’s disease, and muscular dystrophy arise from inherited mutations, while others occur spontaneously. Many rare diseases, such as Gaucher disease and Marfan syndrome, lack effective treatments due to their complexity and limited research. Advances in genetic testing, gene therapy, and precision medicine are improving diagnosis and management. Early detection through newborn screening and genetic counseling helps affected families. Ongoing research in gene editing technologies like CRISPR offers hope for potential cures, transforming care for those with rare genetic conditions.

CRISPR and Gene Editing Technologies

CRISPR and gene editing technologies are revolutionizing medicine by enabling precise modifications to DNA. CRISPR-Cas9 allows scientists to cut, remove, or replace faulty genes, offering potential cures for genetic disorders like sickle cell disease and cystic fibrosis. This breakthrough technology also holds promise for treating cancer, neurodegenerative diseases, and inherited kidney disorders. Researchers are exploring CRISPR-based therapies to repair damaged genes and prevent disease progression. Ethical concerns and potential unintended mutations remain challenges, but advancements in gene editing continue to refine accuracy and safety. CRISPR is paving the way for personalized medicine, transforming the future of genetic disease treatment.

Cancer Genetics and Genomic Therapy

Cancer genetics and genomic therapy are transforming cancer diagnosis and treatment by targeting genetic mutations that drive tumor growth. Genetic testing identifies inherited cancer risks, such as BRCA mutations in breast and ovarian cancer. Genomic therapies, including targeted drugs and immunotherapies, attack cancer cells based on their unique genetic profiles while sparing healthy tissue. Precision medicine tailors treatments to individual patients, improving outcomes and reducing side effects. Advances in gene editing, like CRISPR, hold promise for correcting cancer-causing mutations. Ongoing research in cancer genomics is leading to more effective, personalized therapies, revolutionizing the way cancer is treated and managed.

Predictive genetics in disease prevention

Predictive genetics in disease prevention uses genetic testing to identify an individual’s risk of developing certain conditions before symptoms appear. By analyzing genetic markers, doctors can assess susceptibility to diseases like cancer, diabetes, and cardiovascular disorders. Early detection allows for personalized lifestyle changes, preventive treatments, and targeted screenings to reduce disease onset or severity. Predictive genetics also aids in family planning by identifying inherited conditions. Advances in genomic research enhance risk prediction accuracy, empowering individuals to make informed health decisions. As precision medicine evolves, predictive genetics plays a crucial role in proactive healthcare, improving long-term health outcomes.

Newborn screening and early genetic diagnosis

Newborn screening and early genetic diagnosis play a vital role in detecting inherited disorders at birth, enabling early intervention and treatment. Through blood tests, newborns are screened for conditions like cystic fibrosis, sickle cell disease, and metabolic disorders. Advances in genetic testing allow for the identification of rare diseases that may not show symptoms immediately but could lead to severe complications if untreated. Early diagnosis helps initiate timely therapies, improving long-term health outcomes and reducing disability or mortality. As genomic medicine advances, expanded newborn screening and precision diagnostics are enhancing the ability to detect and manage genetic conditions effectively.

DNA methylation and histone modifications

DNA methylation and histone modifications are key epigenetic mechanisms that regulate gene expression without altering the DNA sequence. DNA methylation involves adding methyl groups to cytosine bases, typically silencing gene activity. Abnormal methylation patterns are linked to diseases like cancer and neurological disorders. Histone modifications, including acetylation, methylation, and phosphorylation, influence how tightly DNA is wrapped around histones, controlling gene accessibility. These modifications play essential roles in development, aging, and disease progression. Understanding epigenetic regulation allows for potential therapeutic interventions, such as drugs that modify methylation or histone patterns, offering new strategies for treating genetic and chronic diseases.

Reproductive Genetics and Prenatal Genomics

Reproductive genetics and prenatal genomics help identify genetic risks in embryos and fetuses, enabling early detection of inherited conditions. Genetic screening before conception assesses carrier status for disorders like cystic fibrosis and sickle cell disease, guiding family planning. Prenatal tests, including noninvasive prenatal testing (NIPT) and amniocentesis, analyze fetal DNA for chromosomal abnormalities like Down syndrome. Advances in genome sequencing allow for more precise diagnosis of rare genetic diseases before birth. Early detection empowers parents and doctors to make informed medical decisions, improving pregnancy outcomes. These innovations are transforming prenatal care, enhancing reproductive health, and reducing genetic disease risks.

Genetics of Aging and Longevity

The genetics of aging and longevity explores how genetic factors influence lifespan and age-related diseases. Specific genes, such as SIRT, FOXO, and mTOR, regulate cellular repair, metabolism, and resistance to stress, impacting longevity. Genetic variations affect telomere length, DNA repair, and oxidative stress response, all of which contribute to aging. Epigenetic changes, including DNA methylation and histone modifications, also play a role in age-related decline. Understanding these genetic mechanisms helps develop therapies to slow aging, prevent diseases like Alzheimer's and cardiovascular disorders, and promote healthy longevity. Advances in genomics and personalized medicine offer new possibilities for extending human lifespan.

Forensic Genetics and DNA Profiling

Forensic genetics and DNA profiling play a crucial role in criminal investigations, paternity testing, and identifying missing persons. By analyzing genetic markers in biological samples like blood, hair, and saliva, forensic scientists create unique DNA profiles to match individuals to crime scenes or confirm biological relationships. Techniques such as short tandem repeat (STR) analysis and mitochondrial DNA testing enhance accuracy in forensic identification. Advances in genetic genealogy have helped solve cold cases by linking suspects through family DNA databases. As technology evolves, forensic genetics continues to improve justice, law enforcement, and human identification with greater precision and reliability.

Immunogenetics and Autoimmune Diseases

Immunogenetics explores the relationship between genetics and the immune system, playing a key role in understanding autoimmune diseases. Genetic variations in immune-related genes, such as HLA (human leukocyte antigen) genes, influence susceptibility to conditions like rheumatoid arthritis, lupus, and type 1 diabetes. Mutations can lead to an overactive immune response, causing the body to attack its own tissues. Advances in genetic research help identify risk factors, enabling early diagnosis and targeted therapies. Precision medicine and immunotherapy are improving treatment outcomes by modulating immune responses. Understanding immunogenetics is essential for developing personalized approaches to managing and preventing autoimmune diseases.

Stem Cell Genetics and Regenerative Medicine

Stem cell genetics and regenerative medicine focus on using stem cells to repair or replace damaged tissues and organs. Stem cells have the unique ability to self-renew and differentiate into specialized cell types, making them valuable for treating conditions like spinal cord injuries, heart disease, and neurodegenerative disorders. Genetic research enhances stem cell therapies by improving cell function, reducing rejection risks, and correcting genetic defects through gene editing technologies like CRISPR. Induced pluripotent stem cells (iPSCs) allow for patient-specific treatments, minimizing immune complications. Advances in stem cell genetics are revolutionizing medicine, offering new possibilities for tissue regeneration and disease treatment.

Gene Mapping

Gene mapping is the process of identifying the locations of genes on a chromosome and determining their relationship to inherited traits and diseases. It helps researchers understand genetic disorders, develop targeted treatments, and discover new drug therapies. Techniques like linkage analysis and genome-wide association studies (GWAS) identify genes linked to conditions such as diabetes, cancer, and neurological disorders. High-resolution mapping using next-generation sequencing enhances precision in detecting mutations. Gene mapping also plays a crucial role in personalized medicine by tailoring treatments to an individual’s genetic makeup. Advances in this field continue to improve disease prevention, diagnosis, and treatment strategies

Dermatogenetics and Skin Disorders

Dermatogenetics studies the genetic basis of skin disorders, helping to understand conditions like psoriasis, eczema, vitiligo, and melanoma. Genetic mutations affect skin structure, pigmentation, and immune responses, contributing to inherited disorders such as epidermolysis bullosa and albinism. Advances in genomic research enable early diagnosis and personalized treatments, including targeted therapies for genetic skin diseases. Dermatogenetics also plays a role in understanding skin aging and susceptibility to UV damage. Gene editing technologies like CRISPR offer potential cures for genetic skin conditions. As research progresses, dermatogenetics is revolutionizing dermatology, improving treatment strategies, and enhancing skin health management.

Benchmark of computational methods to detect digenism in sequencing data

2025-04-10 - 2025-04

Digenic inheritance is characterized by the combined alteration of two different genes leading to a disease. It could explain the etiology of many currently undiagnosed rare diseases. With the advent of next-generation sequencing technologies, the identification of digenic inheritance patterns has become more technically feasible, yet still poses significant challenges without any gold standard method. Here, we present a comprehensive overview of the existing methods developed to detect digenic inheritance in sequencing data and provide a classification in cohort-based and individual-based methods. The latter category of methods appeared the most applicable to rare diseases, especially the ones not needing patient phenotypic description as input. We discuss the availability of the different methods, their output and scalability to inform potential users. Focusing on methods to detect digenic inheritance in the case of very rare or heterogeneous diseases, we propose a benchmark using different real-life scenarios involving known digenic and putative neutral pairs of genes.

Genome study: 180 million genetic variants found in 9,772 individuals

2025-04-09 - 2025-04

Preliminary findings of the GenomeIndia project, which genotyped 10,074 healthy and unrelated Indians from 85 populations — 32 tribal and 53 non-tribal populations — across India, were published in the journal Nature Genetics on Tuesday (April 8, 2025). Blood samples were collected from about 20,000 individuals, of which DNA samples from 10,074 individuals were subjected to whole genome sequencing.

11-minute video on human genetics can make people more accepting of others, reveals new study

2025-04-04 - 2025-04

Want to make the world a friendlier place It could be as simple as watching a short video. A recent study in the European Journal of Social Psychology found that an 11-minute clip about our shared genetic heritage can make people more accepting of those from different countries. It's a quick but powerful way to reduce prejudice and foster a sense of global unity.

Skeletons from ‘green Sahara’ offer genetic peek at a lost human population

2025-04-02 - 2025-04

Today, the Sahara Desert is a sea of sand, but 7000 years ago it was a lush savanna full of hippos, crocodiles, elephants, and giraffes. During a humid, monsoon-heavy interval that spanned more than 5 millennia, people hunted, fished, and eventually herded livestock in a landscape now covered by shifting dunes.

But who were they? Many archaeologists believed migrants from south of the Sahara mingled there with people from the Mediterranean. But the idea was hard to test: The hot, dry conditions that have dominated the Sahara since then have left little DNA preserved in ancient bones. Now, a team of geneticists and archaeologists has at last succeeded in gleaning genetic data from early Saharans: two women buried in a cave in southern Libya. “It’s the first time ancient genomes have come out from anywhere in the Sahara,” says University of ?Oxford archaeologist Peter Mitchell. “It’s very exciting.”

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria

2025-04-02 - 2025-04

Marfan syndrome (MFS) is a genetic disorder caused by an FBN1 variant and is diagnosed based on the revised Ghent criteria, which incorporate clinical manifestations and genetic testing. Up-to-date FBN1 variant interpretation is crucial for proper diagnosis and management of MFS; however, some FBN1 variants of uncertain significance (VUSs) remain inconclusive despite applying Clinical Genome Resource (ClinGen) FBN1-specific guideline. Recently, the ClinGen guidance for PP1/BS4 co-segregation and PP4 phenotype specificity criteria (new PP1/PP4 criteria) were released. Here, we performed reassessment of FBN1 VUSs using these new PP1/PP4 criteria. FBN1 VUSs collected from December 2015 to April 2024 were reassessed according to the ClinGen FBN1-specific guideline and new PP1/PP4 criteria.

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A

2025-03-31 - 2025-03

Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of <5%, and transfer resulted in a live birth. The mutant load of embryos diagnosed in this case was skewed to the extremes. Skewed segregation patterns have been observed in common mutations, but this case suggests that the same phenomenon may be seen in this rare mutation.

EDITORIAL 08 January 2025 We need to talk about human genome editing

2025-03-31 - 2025-03

We need to talk about human genome editing
In a few decades, gene-editing technologies could reduce the likelihood of common human diseases. Societies must use this time to prepare for their arrival.
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Coloured PET scan of the brain of a patient with Alzheimer's disease compared with a normal brain on a black background
Human genome editing could markedly reduce the likelihood of Alzheimer’s disease. The brain scan on the left is of someone with Alzheimer’s disease; the one on the right is of a ‘typical’ brain.Credit: Centre Jean Perrin, ISM/Science Photo Library

Scientists know about tens of thousands of DNA variants that are associated with human diseases. On their own, the vast majority of these variants have small effects. But taken together, the result can be substantial. The effects of modifying multiple variants at once, known as polygenic genome editing, is the subject of an analysis published this week in

The genetic diversity of our plants and forests is at risk, new FAO reports warn

2025-03-28 - 2025-03

Rome—Genetic diversity is key to creating more resilient agrifood systems that withstand challenges such as shifting climate patterns. Since 80 percent of the food we consume is plant-based, preserving a wide range of genetic materials allows farmers to grow crops and varieties suited to their local environments, enhancing food security and livelihoods.
As the world faces widespread hunger, malnutrition and poverty, exacerbated by biodiversity loss, climate change, land degradation, and conflicts, there is an urgent need to halt the loss of the genetic resources that support agrifood systems.
Two reports published this week under the auspices of the Commission on Genetic Resources for Food and Agriculture, under the Food and Agriculture Organization of the United Nations (FAO), emphasize the need for urgent action.

Gene-modified pig-to-human liver xenotransplantation

2025-03-27 - 2025-03

Liver transplantation is the most effective treatment for end-stage liver diseases. However, the number of allogeneic donations fails to meet the growing demand for transplants. To address the shortage, porcine organs are being considered as an ideal supplement given their compatible physiological function and size1,2. Moreover, theoretical and technical advances in gene editing have enabled the removal of key genes that mediate hyperacute rejection, such as glycoprotein ?-galactosyltransferase 1 (GGTA1) and cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH), and the insertion of human transgenes

Modern humans descended from not one, but at least 2 ancestral populations that drifted apart and later reconnected, long before modern humans spread across the globe.

2025-03-26 - 2025-03

Using advanced analysis based on full genome sequences, researchers from the University of Cambridge have found evidence that modern humans are the result of a genetic mixing event between two ancient populations that diverged around 1.5 million years ago. About 300,000 years ago, these groups came back together, with one group contributing 80% of the genetic makeup of modern humans and the other contributing 20%.

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