Brochure | Human Genetics | Genetics

Herpes virus reshapes the human genome's architecture to aid its replication

2025-06-25 - 2025-06

viruses are entirely dependent on their hosts to reproduce. They ransack living cells for parts and energy and hijack the host's cellular machinery to make new copies of themselves. Herpes simplex virus-1 (HSV-1), it turns out, also redecorates, according to a new study in Nature Communications.

Researchers at the Centre for Genomic Regulation (CRG) in Barcelona have discovered the cold sore virus reshapes the human genome's architecture, rearranging its shape in three-dimensional space so that HSV-1 can access host genes most useful for its ability to reproduce.

HSV-1 is an opportunistic interior designer, reshaping the human genome with great precision and choosing which bits it comes into contact with. It's a novel mechanism of manipulation we didn't know the virus had to exploit host resources."

Cold sore virus hijacks human genome in 3D--and scientists found its weak spot

2025-06-21 - 2025-06

Human DNA in its natural state inside cells (left) compared to eight hours after being infected with HSV-1 (right). The virus compacts the human genome s size significantly and moves it towards the edge of the nucleus, freeing up space for the virus to set up a factory for its own purposes. Credit: Esther Gonzalez Almela and Alvaro Castells Garcia

Viruses are entirely dependent on their hosts to reproduce. They ransack living cells for parts and energy and hijack the host's cellular machinery to make new copies of themselves. Herpes simplex virus-1 (HSV-1), it turns out, also redecorates, according to a new study in Nature Communications.Researchers at the Center for Genomic Regulation (CRG) in Barcelona have discovered the cold sore virus reshapes the human genome's architecture, rearranging its shape in three-dimensional space so that HSV-1 can access host genes most useful for its ability to reproduce.

Herpes virus reshapes the human genome's architecture to aid its replication

2025-06-20 - 2025-06

Viruses are entirely dependent on their hosts to reproduce. They ransack living cells for parts and energy and hijack the host's cellular machinery to make new copies of themselves. Herpes simplex virus-1 (HSV-1), it turns out, also redecorates, according to a new study in Nature Communications.

Researchers at the Centre for Genomic Regulation (CRG) in Barcelona have discovered the cold sore virus reshapes the human genome's architecture, rearranging its shape in three-dimensional space so that HSV-1 can access host genes most useful for its ability to reproduce.
HSV-1 is an opportunistic interior designer, reshaping the human genome with great precision and choosing which bits it comes into contact with. It's a novel mechanism of manipulation we didn't know the virus had to exploit host resources.

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

2025-06-19 - 2025-06

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.

Human Genetics Laboratory increasing automation

2025-06-18 - 2025-06

Coming to Nebraska in 2023 to head the Warren G. Sanger Human Genetics Laboratory at UNMC was an easy decision for Zhenya Tang, MD, PhD.

“The excellence of this lab was already established,” he said, noting it was among the first laboratories to develop FISH (Fluorescence In-Situ Hybridization) tests for diagnosis. In addition, “this lab is one of a few labs nationwide that started the microarray for diagnostics.”

Dr. Tang, the Bhavana Janakbhai Dave Distinguished Professor in the UNMC Department of Pathology, Microbiology and Immunology, is focused on bringing the laboratory into the future, to keep it on the cutting edge.

“The field has advanced as well,” he said. “We are trying to increase automation and develop new assays.”

Since his arrival, Dr. Tang also has bolstered the lab’s expertise, bringing Changqing Xia, MD, PhD, aboard in 2024. The changes will enhance the already strong national reputation of the Human Genetics Laboratory, which was established on campus in 1974.
Diane Pickering, manager of the lab, said the laboratory processes about 9,000 tests a year.

Uncovering the Exposome: An Emerging Field Casts a Wide Net

2025-06-17 - 2025-06

The lab buildings of Long Island’s renowned Cold Spring Harbor Laboratory have hosted researchers responsible for some of the most consequential scientific leaps in human genetics and disease. In the last 60 years, eight of the lab’s scientists have earned Nobel Prizes, including for work on how viruses replicate, on chromosome structure, and how edited genes can cause disease.

That setting felt auspicious when nearly two-dozen people, most of them researchers, gathered at a conference center about 5 miles from the main campus in December 2023 to lay out the definition for a budding scientific discipline nearly two decades in the making. The work aims to understand human health outcomes by cataloguing the tens of thousands of chemicals and conditions a person is exposed to over the course of their life and determine how those interactions affect their unique biology, a concept referred to as the exposome.

Modern scientific explanations of human biological variation

2025-06-13 - 2025-06

Contemporary scientists hold that human physical variations, especially in those traits that are normally used to classify people racially—skin color, hair texture, facial features, and to some extent bodily structure—must be understood in terms of evolutionary processes and the long-range adaptation of human groups to differing environments. Other features may simply reflect accidental mutations or functionally neutral changes in the genetic code.

In any given habitat, natural forces operate on all of the living forms, including human groups. The necessary interaction with these forces will affect the survival and reproduction of the members of these societies. Such groups already have a wide and complex range of hereditary physical characteristics; indeed, human hereditary variability is a product of human sexual reproduction, whereby every individual receives half of his or her genetic endowment from each parent and no two individuals (except for identical twins) inherit the same combination of genetic features.

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

2025-06-12 - 2025-06

Approximately 200 genetic skeletal disorders can present prenatally, detectable through ultrasound abnormalities during pregnancy. Severe forms are typically identified during the first or second trimester, whereas milder phenotypes are recognized later, in the third trimester. Diagnosing skeletal dysplasia prenatally is challenging due to the large number of disorders and the overlapping clinical findings that can be detected by ultrasound. This study, conducted at Karolinska University Hospital between 2015 and 2022, examines the genetic and radiographic findings in 32 fetuses (14 female and 18 male, from unrelated families) with skeletal abnormalities detected on prenatal ultrasound and confirmed by radiographs at birth or after pregnancy termination. Fetal DNA samples from all 32 fetuses underwent singleton genome sequencing using an in silico skeletal dysplasia gene panel. As a second step, for six fetuses with molecularly unsolved diagnoses

FSU chemist honored for discovering new way to study human genes, understand disease

2025-06-11 - 2025-06

A Florida State University chemist has been recognized for developing a new method of analyzing human genetics that will help to more accurately understand and prevent diseases.

Christian Bleiholder, an associate professor in the Department of Chemistry and Biochemistry, earned the American Society for Mass Spectrometry’s Ron Hites Award for his laboratory’s paper, “Top-Down Protein Analysis by Tandem-Trapped Ion Mobility Spectrometry/Mass Spectrometry (Tandem-TIMS/MS) Coupled with Ultraviolet Photodissociation (UVPD) and Parallel Accumulation/ Serial Fragmentation (PASEF) MS/MS Analysis,” published by Journal of the American Society for Mass Spectrometry in 2023.

How did humans evolve such rotten genetics

2025-06-10 - 2025-06

To Shakespeare’s Hamlet we humans are “the paragon of animals”. But recent advances in genetics are suggesting that humans are far from being evolution’s greatest achievement.

For example, humans have an exceptionally high proportion of fertilised eggs that have the wrong number of chromosomes and one of the highest rates of harmful genetic mutation.

In my new book The Evolution of Imperfection I suggest that two features of our biology explain why our genetics are in such a poor state. First, we evolved a lot of our human features when our populations were small and second, we feed our young across a placenta.

How did humans evolve such rotten genetics

2025-06-10 - 2025-06

An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression

2025-06-03 - 2025-06

Genome-wide association studies (GWAS) of disease progression are vulnerable to collider bias caused by selection of participants with disease at study entry. This bias introduces spurious associations between disease progression and genetic variants that are truly only associated with disease incidence. Methods of statistical adjustment to reduce this bias have been published, but rely on assumptions regarding the genetic correlation of disease incidence and disease progression which are likely to be violated in many human diseases. MR-Horse is a recently published Bayesian method to estimate the parameters of a general model of genetic pleiotropy in the setting of Mendelian Randomisation. We adapted this method to provide bias-reduced GWAS estimates of associations with disease progression, robust to the genetic correlation of disease incidence and disease progression and robust to the presence of pleiotropic variants with effects on both incidence and progression.

Human Genetics Laboratory increasing automation to meet growing demand for testing

2025-06-02 - 2025-06

Coming to Nebraska in 2023 to head the Warren G. Sanger Human Genetics Laboratory (HGL) at the University of Nebraska Medical Center was an easy decision for Dr. Zhenya Tang.

“The excellence of this lab was already established,” he said, noting it was among the first laboratories to develop FISH tests for diagnosis. In addition, “this lab is one of a few labs nationwide that started the microarray for diagnostics.”

Dr. Tang is focused on bringing the laboratory into the future, to keep it on the cutting edge. “We are trying to move on,” he said. “The field has advanced as well. We are trying to increase automation and develop new assays.”

Since his arrival, Dr. Tang has moved to increase automation in the lab. He has also bolstered its expertise, bringing Changqing Xia, MD, PhD, aboard in 2024. The changes will enhance the already strong national reputation of the Human Genetics Laboratory, which was established on campus in

Human Genome Project

2025-05-31 - 2025-05

Human Genome Project (HGP), an international collaboration that successfully determined, stored, and rendered publicly available the sequences of almost all the genetic content of the chromosomes of the human organism, otherwise known as the human genome.

DNA; human genome
DNA; human genomeThe human genome is made up of approximately three billion base pairs of deoxyribonucleic acid (DNA). The bases of DNA are adenine (A), thymine (T), guanine (G), and cytosine (C).
The Human Genome Project (HGP), which operated from 1990 to 2003, provided researchers with basic information about the sequences of the three billion chemical base pairs (i.e., adenine [A], thymine [T], guanine [G], and cytosine [C]) that make up human genomic DNA (deoxyribonucleic acid). The HGP was further intended to improve the technologies needed to interpret and analyze genomic sequences, to identify all the genes encoded in human DNA, and to address the ethical, legal, and social implications that might arise from defining the enti

Regeneron to acquire human genetics company 23andMe for $256m

2025-05-23 - 2025-05

The agreement comes two months after 23andMe filed for bankruptcy protection to “facilitate a sale process to maximise the value of its business”.
After being named the successful bidder in the bankruptcy auction for substantially all of 23andMe’s assets, Regeneron is now planning to acquire the company’s Personal Genome Service, Total Health and Research Services business lines, as well as its Biobank and associated

Top Story Doubling down on genetics-guided drug development, Regeneron to buy 23andMe

2025-05-20 - 2025-05

Regeneron Pharmaceuticals has won the bidding process for 23andMe and the majority of the human genetics firm's assets, adding to its already successful genetics-guided approach to drug development. Under the deal — which requires court and regulatory approvals — Regeneron will pay $256 million.

Monday's announcement brings an end to speculation over the future of 23andMe, which filed for Chapter 11 bankruptcy protection in March. The company — valued at $3.5 billion when it went public in 2021 — has been hit by a number of issues, including a 2023 hacking incident that compromised customer data and a failed drug discovery unit that closed last November.

For further analysis, read Spotlight On: Trials and triumphs of 23andMe — but door not yet closed.
On the other hand, Regeneron has been at the forefront of genetics-guided research and drug development, with a portfolio of marketed medicines that include therapies to prevent blindness, as well as treatments for allergic diseases and for several forms of cancer.

Our DNA May Evolve Much Faster Than Previously Thought

2025-05-19 - 2025-05

Understanding how human DNA changes over generations is crucial for estimating genetic disease risks and tracing our evolutionary history. However, some of the most variable regions of our DNA have been difficult for researchers to access, until now.

Lynn Jorde
Lynn Jorde, PhD. Credit: University of Utah Health
Scientists from University of Utah Health, the University of Washington, PacBio, and other institutions have used advanced DNA sequencing technologies to create the most detailed map of genetic change across generations. Their study revealed that certain parts of the human genome change far more rapidly than previously believed, opening the door to deeper insights into the origins of human disease and evolution.

What the complete ape genome is revealing about the earliest humans

2025-05-16 - 2025-05

This is an extract from Our Human Story, our newsletter about the revolution in archaeology. Sign up to receive it in your inbox every month.

One of the most vexing unsolved problems in human evolution is its starting point – about which we know almost nothing.
I’m referring to the last common ancestor that we share with chimpanzees and bonobos, our closest living relatives. This mystery ape lived millions of years ago; at some point, the population split into two. One group gave rise to modern-day chimps…

Methodological opportunities in genomic data analysis to advance health equity

2025-05-15 - 2025-05

The causes and consequences of inequities in genomic research and medicine are complex and widespread. However, it is widely acknowledged that underrepresentation of diverse populations in human genetics research risks exacerbating existing health disparities. Efforts to improve diversity are ongoing, but an often-overlooked source of inequity is the choice of analytical methods used to process, analyse and interpret genomic data. This choice can influence all areas of genomic research, from genome-wide association studies and polygenic score development to variant prioritization and functional genomics

The platinum pedigree

2025-05-14 - 2025-05

professor and chair of human genetics in SFESOM and an author on the study, says that previous efforts to study human genetic change were limited to the parts of the genome that mutate the least. But the new study used advanced sequencing technologies to reveal the most rapidly changing regions of human DNA—regions that Quinlan describes as “previously untouchable.”

“We saw parts of our genome that are crazy mutable, almost a mutation every generation,” he says. Other segments of DNA were more stable.

Jorde says that the new resource can be an important support for genetic counseling by helping answer the question, “If you have a child who’s affected with a disease, is it likely to be inherited from a parent, or is it likely to be a new mutation” Diseases caused by changes in “mutation hotspots” are more likely to be unique to the child, rather than having been passed down from their parents. This means that the risk of the parents having other kids with the same disease is lower. But if a genetic change was inherited from the parents, those parents’ future kids have a higher risk of having the disease.

X-linked competition — implications for human development and disease

2025-05-13 - 2025-05

During early mammalian female development, X chromosome inactivation leads to random transcriptional silencing of one of the two X chromosomes. This inactivation is maintained through subsequent cell divisions, leading to intra-individual diversity, whereby cells express either the maternal or paternal X chromosome. Differences in X chromosome sequence content can trigger competitive interactions between clones that may alter organismal development and skew the representation of X-linked sequence variants in a cell-type-specific manner — a recently described phenomenon termed X-linked competition in analogy to existing cell competition paradigms. Skewed representation can define the phenotypic impact of X-linked variants, for example, the manifestation of disease in female carriers of X-linked disease alleles. Here, we review what is currently known about X-linked competition, reflect on what remains to be learnt and map out the implications for X-linked human disease.

Study uncovers how a mobile genetic element hijacks human cells

2025-05-12 - 2025-05

Viruses are known to use the genetic machinery of the human cells they invade to make copies of themselves. As part of the process, viruses leave behind remnants throughout the genetic material (genomes) of humans. The virus-like insertions, called "transposable elements," are snippets of genetic material even simpler than viruses that also use host cell machinery to replicate.
Nearly all these inserted elements have been silenced by our cells' defense mechanisms over time, but a few, nicknamed "jumping genes," can still move around the human genome like viruses. Just one, called long interspersed nuclear element 1 (LINE-1), can still move by itself.

The Human Genome Project: a new era of scientific progress

2025-05-09 - 2025-05

The Human Genome Project was one of the most significant scientific endeavours in history, fundamentally transforming our understanding of human biology. Completed in 2003, it accelerated scientific progress and laid the groundwork for future innovations in health and medicine. Wellcome contributed £210 million to the effort.

The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests

2025-05-08 - 2025-05

Lynch syndrome (LS) is a hereditary cancer predisposition syndrome caused by germline pathogenic variants of DNA mismatch repair (MMR) genes. To diagnose LS, the microsatellite instability (MSI) test or immunohistochemistry of MMR enzymes is used as a conventional clinical screening method for all patients with colorectal and endometrial cancers. Recently, patients with advanced-stage cancers have undergone comprehensive genomic profiling (CGP), which is useful not only for the detection of molecularly targeted personalized therapies, but also for the screening of hereditary cancer syndromes by determining presumed germline pathogenic variants (PGPVs). Between January 2020 and April 2024

gene editing genetics

2025-05-07 - 2025-05

gene editing, the ability to make highly specific changes in the DNA sequence of a living organism, essentially customizing its genetic makeup. Gene editing is performed using enzymes, particularly nucleases that have been engineered to target a specific DNA sequence, where they introduce cuts into the DNA strands, enabling the removal of existing DNA and the insertion of replacement DNA. Key among gene-editing technologies is a molecular tool known as CRISPR-Cas9, a powerful technology discovered in 2012 by American scientist Jennifer Doudna, French scientist Emmanuelle Charpentier, and colleagues and refined by American scientist Feng Zhang and colleagues. CRISPR-Cas9 functioned with precision, allowing researchers to remove and insert DNA in the desired locations.

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

2025-05-06 - 2025-05

Arab populations are largely understudied, notably their genetic structure and history. Here we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive diversity as well as genetic ancestries representing the main founding Arab genealogical lineages of Qahtanite (Peninsular Arabs) and Adnanite (General Arabs and West Eurasian Arabs). We find that Peninsular Arabs are the closest relatives of ancient hunter-gatherers and Neolithic farmers from the Levant, and that founder Arab populations experienced multiple splitting events 12–20kya, consistent with the aridification of Arabia and farming in the Levant, giving rise to settler and nomadic communities. In terms of recent genetic flow, we show that these ancestries contributed significantly to European, South Asian as well as South American populations, likely as a result of Islamic expansion over the past 1400 years. Notably, we characterize a large cohort of men with the ChrY J1a2b haplogroup , identifying 29 unique sub-haplogroups. Finally, we leverage genotype novelty to build a reference panel of 12,432 haplotypes, demonstrating improved genotype imputation for both rare and common alleles in Arabs and the wider Middle East.

Human genetics revolution starts now

2025-05-03 - 2025-05

London - It has been less than five years since it was discovered, yet the gene-editing technique known as Crispr/Cas9 has become a recognised “game-changer” in the field of genetics.

The technology uses “guide” molecules to identify precise positions on the structure of DNA which can then be cut and spliced with a bacterial enzyme. Crispr/Cas9 is able to edit genes at the smallest resolution - down to a single base pair within the sequence of the 3 billion bases that make up the human genome.Crispr, which stands for “clustered, regularly interspaced, short, palindromic repeats”, is a guide molecule made of RNA, a close cousin to DNA. This is the part of the technology that is made to order for targeting a specific site of interest on the DNA molecule.

Gametes Embryo FetusThere are 17 timepoints when a human life might begin

2025-05-02 - 2025-05

I wrote this essay in 2013, in response to common confusion of “embryo” and “fetus” – never imagining the blurring would extend to “baby”. We scientists are sticklers for precision and accuracy. Even physicians oversimplify human prenatal development, counting the weeks of pregnancy from the last menstrual period, two weeks before fertilization. That error has legal repercussions in so-called “heartbeat” laws claiming a deadline of 6 weeks for termination that, biologically speaking, really means 4 weeks.

“17 Timepoints” in 2013 apparently hit some nerves, for it’s been quoted, cited, excerpted, complimented, criticized, and tweeted. Various right-to-lifers in particular have trashed me, taking exception to my litany of biological fac

The Risks and Genetics of Alzheimer’s Disease

2025-04-30 - 2025-04

University of Miami Miller School of Medicine researchers from the John P. Hussman Institute for Human Genomics and the Comprehensive Center for Brain Health were a major presence at the recent Alzheimer’s Disease/Parkinson’s Disease annual meeting. Several scientists presented research findings illuminating the complex biology of Alzheimer’s disease.Researchers from the Miller School have been a regular presence at the annual conference.The meeting is a great venue to present our science to a large, international audience, but also to make connections, have meetings and network. We’ve been able to develop a number of collaborations with other researchers and with industry to help advance our research goals,” said James Galvin M.D., M.P.H., professor of neurology and chief of the Division of Cognitive Neurology at the Miller School and director of the Comprehensive Center for Brain Health.

Human Genome Project

2025-04-29 - 2025-04

Prior to the HGP, the base sequences of numerous human genes had been determined through contributions made by many individual scientists. However, the vast majority of the human genome remained unexplored, and researchers, having recognized the necessity and value of having at hand the basic information of the human genomic sequence, were beginning to search for ways to uncover this information more quickly. Because the HGP required billions of dollars that would inevitably be taken away from traditional biomedical

The Human Genome Project: a new era of scientific progress

2025-04-28 - 2025-04

The Spanish Polygenic Score reference distribution: a resource for personalized medicine

2025-04-25 - 2025-04

Here we present the Polygenic Score (PGS) distributions for 3124 common diseases and quantitative traits observed in the Spanish population. To achieve so, the genomes and exomes of 2190 unrelated individuals of Spanish ancestry were used. The analysis covered a wide range of diseases and traits, including both complex disorders, such as various types of cancer, and disorders associated with the digestive, cardiovascular, neuronal, and immune systems, as well as quantitative traits like hematological and anthropometric measurements. The resulting PGS distributions provide valuable insights into the genetic architecture of the Spanish population, offering a comprehensive framework for investigating disease susceptibility and potential risk factors in this specific population. The study has also explored potential relationships between diseases and traits based on PGS pairwise correlations, revealing significant correlations that warrant further investigation. These findings have contributed to increase our understanding of the genetic basis of human traits and have implications for personalized medicine and public health interventions in the Spanish population. In addition, for the sake of reproducibility, we provide a data processing pipeline, enabling the computation of PGS for external genomes and exomes.

Parts of our DNA may evolve much faster than previously thought

2025-04-24 - 2025-04

Knowing how human DNA changes over generations is essential to estimating genetic disease risks and understanding how we evolved. But some of the most changeable regions of our DNA have been off-limits to researchers—until now.
A team of researchers from University of Utah Health, University of Washington, the California biotech firm PacBio and other institutions has used multiple DNA sequencing technologies to develop the most comprehensive atlas yet of genetic change through generations.
The new investigation revealed that parts of the human genome change much faster than was previously known, laying the foundations for new insights into the roots of human disease and evolution.

Humans Almost Went Extinct 930,000 Years Ago—This Genetic Bottleneck Changed Us Forever!

2025-04-23 - 2025-04

A groundbreaking study has revealed that human ancestors faced a catastrophic population collapse nearly 930,000 years ago, nearly driving the species to extinction. Researchers utilized modern DNA techniques to uncover evidence of a genetic bottleneck, a period when only about 1,280 individuals survived for over 100,000 years. This population crash likely took place between 930,000 and 813,000 years ago, and it left a significant impact on the genetic makeup of modern humans. This discovery, published in the journal Science, provides unprecedented insight into a crucial moment in human evolution.

Footprint QTLs Show How Noncoding Variants Disrupt TF Binding, Drive Disease Risk in Liver

2025-04-22 - 2025-04

New insights into how genetic variants in noncoding regions of the genome can contribute to disease risk by disrupting transcription factor (TF) binding have been uncovered. Footprint quantitative trait locus (fpQTL) mapping could become a powerful tool for identifying causal regulatory variants across tissues, not just in the liver.

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

2025-04-21 - 2025-04

With this in mind, researchers wondered: Could learning about our shared genetics make people more accepting of those from other countries If people realised how alike we really are, they might start seeing others as part of a larger "us" rather than a separate "them." This shift in perspective, re-categorisation, could be a simple yet powerful way to reduce prejudice.

The support of human genetic evidence for approved drug indications

2025-04-19 - 2025-04

Over a quarter of drugs that enter clinical development fail because they are ineffective. Growing insight into genes that influence human disease may affect how drug targets and indications are selected. However, there is little guidance about how much weight should be given to genetic evidence in making these key decisions. To answer this question, we investigated how well the current archive of genetic evidence predicts drug mechanisms. We found that, among well-studied indications, the proportion of drug mechanisms with direct genetic support increases significantly across the drug development pipeline, from 2.0% at the preclinical stage to 8.2% among mechanisms for approved drugs, and varies dramatically among disease areas. We estimate that selecting genetically supported targets could double the success rate in clinical development.

The support of human genetic evidence for approved drug indications

2025-04-19 - 2025-04

Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis

2025-04-17 - 2025-04

Using the Australian Census survey 2021 as base population, a microsimulation model, PreconMOD was developed to evaluate the cost-effectiveness of population-based expanded reproductive carrier screening (RCS) for 569 recessive conditions from the health service and societal perspectives. The model simulated the effect of expanded RCS including the downstream interventions for at-risk couples on cost and outcomes. The comparators were (i) no population screening (ii) limited screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome and (iii) a 300 conditions screening panel. Averted affected births and health service cost with expanded RCS were projected to year 2061. At a 50% uptake, our model predicts that expanded RCS is cost saving (i.e., higher quality-adjusted life-years and lower costs) compared with other screening strategies in the model from the health service and societal perspectives. The number of affected births averted in a single cohort would increase from 84 [95% confidence interval (CI) 60–116] with limited screening to 2067 (95%CI 1808–2376) with expanded RCS. Expanded RCS was cost-saving compared to the 300-conditions screening panel. Indirect cost accounted for about one-third of the total costs associated with recessive disorders. Our model predicts that the direct treatment cost associated with current limited 3 genes screening would increase by 20% each year to A$73.4 billion to the health system by 2061. Our findings contribute insights on the cost burden of genetic diseases and the economic benefits of expanded RCS to better informed resource allocation decisions.

Human & Disease Biology Translating Biological Insights into Targeted Therapies

2025-04-16 - 2025-04

Discovering the next generation of medicines at Amgen begins with a team of individuals dedicated to expanding knowledge of human and disease biology.
We’ve been consistently recognized by industry leaders as a great place to work, having been named one of America's Best Large Employers by Forbes magazine, as well as one of the World's 25 Best Workplaces™ by Fortune and Great Place to Work

Origins of the human genome

2025-04-14 - 2025-04

Comparisons of specific DNA sequences between humans and their closest living relative, the chimpanzee, reveal 99 percent identity, although the homology drops to 96 percent if insertions and deletions in the organization of those sequences are taken into account. This degree of sequence variation between humans and chimpanzees is only about 10-fold greater than that seen between two unrelated humans. From comparisons of the human genome with the genomes of other species, it is clear that the genome of modern humans shares common ancestry with the genomes of all other animals on the planet and that the modern human genome arose between 150,000 and 300,000 years ago.

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

2025-04-11 - 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.

About 100 samples were collected from each population with a median of 159 samples from each non-tribal group and 75 samples from each tribal group to estimate the relatively rare variants that are important to understand complex diseases.
After excluding two populations, the preliminary findings are based on the genetic information of 9,772 individuals — 4,696 male participants and 5,076 female participants. The genome sequence data are deposited in the Indian Biological Data Centre (IBDC) housed in Regional Centre for Biotechnology, in Faridabad, Haryana.

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

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%.

Webinar on Human Genetics

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Herpes virus reshapes the human genome's architecture to aid its replication

Cold sore virus hijacks human genome in 3D--and scientists found its weak spot

Herpes virus reshapes the human genome's architecture to aid its replication

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

Human Genetics Laboratory increasing automation

Uncovering the Exposome: An Emerging Field Casts a Wide Net

Modern scientific explanations of human biological variation

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

FSU chemist honored for discovering new way to study human genes, understand disease

How did humans evolve such rotten genetics

How did humans evolve such rotten genetics

An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression

Human Genetics Laboratory increasing automation to meet growing demand for testing

Human Genome Project

Regeneron to acquire human genetics company 23andMe for $256m

Top Story Doubling down on genetics-guided drug development, Regeneron to buy 23andMe

Our DNA May Evolve Much Faster Than Previously Thought

What the complete ape genome is revealing about the earliest humans

Methodological opportunities in genomic data analysis to advance health equity

The platinum pedigree

X-linked competition — implications for human development and disease

Study uncovers how a mobile genetic element hijacks human cells

The Human Genome Project: a new era of scientific progress

The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests

gene editing genetics

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

Human genetics revolution starts now

Gametes Embryo FetusThere are 17 timepoints when a human life might begin

The Risks and Genetics of Alzheimer’s Disease

Human Genome Project

The Human Genome Project: a new era of scientific progress

The Spanish Polygenic Score reference distribution: a resource for personalized medicine

Parts of our DNA may evolve much faster than previously thought

Humans Almost Went Extinct 930,000 Years Ago—This Genetic Bottleneck Changed Us Forever!

Footprint QTLs Show How Noncoding Variants Disrupt TF Binding, Drive Disease Risk in Liver

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

The support of human genetic evidence for approved drug indications

The support of human genetic evidence for approved drug indications

Cost-effectiveness of population-based expanded reproductive carrier screening for genetic diseases in Australia: a microsimulation analysis

Human & Disease Biology Translating Biological Insights into Targeted Therapies

Origins of the human genome

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

Benchmark of computational methods to detect digenism in sequencing data

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

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

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

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

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

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

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

Gene-modified pig-to-human liver xenotransplantation

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.

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