Brochure | Genetic Disorders | Rare diseases

Scientists link autism to Neanderthal DNA found in modern humans

2025-07-08 - 2025-07

When folks picture Neanderthals, the image often involves heavy brows, furry pelts, and stone tools. Yet pieces of their DNA are still part of the modern human genome. Recent research suggests that some of these genetic variants inherited from Neanderthals could be linked to autism spectrum disorder.

About 50,000-60,000 years ago, small groups of modern humans trekked out of Africa into Eurasia. They met Neanderthals, exchanged tools, and also exchanged genes through interbreeding.

Ancient DNA Shows Genetic Link Between Egypt And Mesopotamia

2025-07-04 - 2025-07

Ancient DNA has revealed a genetic link between the cultures of ancient Egypt and Mesopotamia, according to research published Wednesday in the journal Nature.
Researchers sequenced whole genomes from the teeth of a remarkably well-preserved skeleton found in a sealed funeral pot in an Egyptian tomb site dating to between 4,495 and 4,880 years ago.
Four-fifths of the genome showed links to North Africa and the region around Egypt. But a fifth of the genome showed links to the area in the Middle East between the Tigris and Euphrates Rivers, known as the Fertile Crescent, where Mesopotamian civilization flourished.

CHRO reshuffle at DCM Shriram: Hameed Jung to head Bioseed Genetics Business

2025-07-03 - 2025-07

Hameed ung takes over the role following the reported departure of IVS Ranganath, Head HR – India, Bioseed Genetics Business, who has decided to move on to explore new opportunities.
In a recent leadership reshuffle, DCM Shriram has appointed Hameed Jung as the Chief Human Resources Officer (CHRO) for its Bioseed Genetics Business, effective July 1. He will be based in Hyderabad.

Jung takes over the role following the reported departure of IVS Ranganath, Head HR – India, Bioseed Genetics Business, who has decided to move on to explore new opportunities. In his new capacity, Jung will report to Sreekanth Chundi, Executive Director and Business Head – Bioseed, with a dotted-line reporting to Sandeep Girotra, Executive Director and Group CHRO, DCM Shriram

Researchers link genetic ancestry to severity of dengue fever

2025-07-02 - 2025-07

For the first time, the extreme variability in dengue fever has been linked to a biological mechanism, potentially opening doors to new treatments and vaccines for the most common mosquito-borne disease worldwide. The study was published today in Proceedings of the National Academy of Sciences (PNAS) by researchers from the University of Pittsburgh, UPMC and Instituto Aggeu Magalhaes in Brazil.

Cases of dengue fever, commonly known as "breakbone fever" for the excruciating joint pain that is the hallmark of the disease, have been rising around the world in recent years. More than half the global population is at risk.

USFDA curbs export of genetic material to hostile countries

2025-06-30 - 2025-06

The United States Food and Drug Administration (USFDA) has announced an immediate review of new clinical trials that involve sending American citizens’ living cells to China and other hostile countries for genetic engineering and subsequent infusion back into US patients — sometimes without their knowledge or consent.

This follows mounting evidence that some trials failed to inform participants about the international transfer and manipulation of their biological material, and may have exposed Americans’ sensitive genetic data to misuse by foreign governments, including adversaries, the FDA said. “This practice was made possible by a data security rule finalised

Scientists complete the most thorough analysis yet of India’s genetic diversity

2025-06-27 - 2025-06

A comparison of more than 2,700 complete genomes from South Asians uncovers a wealth of ancient and recent diversity and genetic links to disease.

With around 5,000 different ethno-linguistic and religious groups, India is one of the most culturally and genetically diverse countries in the world. Yet, it remains underrepresented in genomic surveys, even when compared to other non-European groups, such as East Asians and Africans.

Baltic cod are declining — and now researchers say the damage is genetic

2025-06-26 - 2025-06

In a remarkable discovery, scientists have found that heavy overfishing not only lowered eastern Baltic cod stocks but has also induced an irreversible biological shift in the species. In a paper this week in Science Advances, scientists present the first evidence of genetic transformations that cod overfishing has brought about evolutionary changes, leading to smaller, slower-growing fish that now make up the majority of the population. The shift in the species' genetic makeup is making it far more difficult — and possibly irreparable — to recover, even with fishing bans, the Financial Times reported.

How India can weaponise data in battle against rare, genetic diseases

2025-06-24 - 2025-06

Once you have the right database and know disease prevalence based on regions and subgroups, Indian pharma's huge potential can be leveraged to find solutions
India has no prevalence data for rare diseases and very little genetic references for its own population. Arjun Gupta, founder of Genetico Research & Diagnostics, explains why his quest to develop an AI-enabled suite of software to assist in the diagnosis and research of rare and genetic diseases is going to be a game changer.

Timely diagnosis depends on timely referral: Timely referral is critical. For example, rare conditions in paediatrics represent about half the cases. Many of these children can’t live beyond the first few years of their lives.

The latest volume of HD genetics research reveals new gems but also mysteries

2025-06-21 - 2025-06

The latest instalment in a series of big studies to understand the genetics of Huntington disease (HD) just hit the shelves. These studies have focused on how small changes in the genetic letters of a person with HD can impact when they develop symptoms of the disease. The previous instalments in this series have been particularly important for opening up new ways to understand HD and to develop new treatments. So let’s have a look at how this study was done, and what this newest volume tells us that is different from the previous ones.

Genetics or Microenvironment: What Drives CLL Progression

2025-06-20 - 2025-06

MILAN — Is chronic lymphocytic leukemia (CLL) progression primarily driven by genetic mutations or by external cues from the tumor microenvironment Despite major strides in targeted therapies, CLL remains incurable, prompting renewed scrutiny of whether intrinsic genetic alterations or extrinsic cellular forces hold the key to more effective, lasting treatment.

This central question took the spotlight at the 2025 European Hematology Association (EHA) Annual Congress, sparking a lively debate among leading CLL researchers.

Most therapies have targeted intrinsic molecular features of leukemic cells, such as BCL2 and BTK. But the lack of robust responses to immunotherapy suggests that external factors such as the tumor microenvironment may also play a role.

Gene-editing nanoparticle system targets multiple organs simultaneously

2025-06-19 - 2025-06

A gene-editing delivery system developed by UT Southwestern Medical Center researchers simultaneously targeted the liver and lungs of a preclinical model of a rare genetic disease known as alpha-1 antitrypsin deficiency (AATD), significantly improving symptoms for months after a single treatment, a new study shows. The findings, published in Nature Biotechnology, could lead to new therapies for a variety of genetic diseases that affect multiple organs.

Lung gene linked to post-COVID symptoms, large genetics study says

2025-06-17 - 2025-06

Long COVID, or technically post-acute sequelae of SARS-CoV-2 infection, refers to symptoms that continue for weeks or months after the initial illness clears. A new study tried to find out why some people develop long COVID while others recover quickly
More than four years since the COVID-19 pandemic began, the disease remains a global health concern — not because of new surges but because of what persists. Long COVID, or technically post-acute sequelae of SARS-CoV-2 infection (PASC), refers to symptoms that continue for weeks or months after the initial illness clears. These include fatigue, breathing problems, and cognitive issues. The World Health Organization defines long COVID as symptoms that begin within three months of infection and last at least two months without another explanation.

Lung gene linked to post-COVID symptoms, large genetics study says

2025-06-16 - 2025-06

Long COVID, or technically post-acute sequelae of SARS-CoV-2 infection, refers to symptoms that continue for weeks or months after the initial illness clears. A new study tried to find out why some people develop long COVID while others recover quickly
More than four years since the COVID-19 pandemic began, the disease remains a global health concern-not because of new surges but because of what persists. Long COVID, or technically post-acute sequelae of SARS-CoV-2 infection (PASC), refers to symptoms that continue for weeks or months after the initial illness clears. These include fatigue, breathing problems, and cognitive issues. The World Health Organization defines long COVID as symptoms that begin within three months of infection and last at least two months without another explanation.

8 Mental Health Disorders May Stem From The Same Genetic Root, Study Reveals

2025-06-13 - 2025-06

A groundbreaking new study has revealed that eight major psychiatric disorders may share a common genetic foundation. Conducted by a US-based research team, the study identified specific genetic variants that are active during brain development and appear across multiple mental health conditions. These variants remain influential over long periods, affecting various stages of brain growth.

The genetic study, led by Hyejung Won, PhD, associate professor in the Department of Genetics and the UNC Neuroscience Centre, and Patrick Sullivan, MD, FRANZCP, the Yeargen Distinguished Professor of Psychiatry and Genetics, has successfully delineated the functional consequences of genetic variants into two groups. Their findings, which were published in Cell, suggest that pleiotropic variants may be optimal targets for treatment due to their extended roles in development and sensitivity to change.

"Pleiotropy was traditionally viewed as a challenge because it complicates the classification of psychiatric disorders," said Won. "However, if we can understand the genetic basis of pleiotropy, it might allow us to develop treatments targeting these shared genetic factors, which could then help treat multiple psychiatric disorders with a common therapy."

New Map Reveals First Steps of Protein Clumping in Alzheimer’s

2025-06-12 - 2025-06

Scientists have mapped how over 140,000 mutations affect the formation of amyloid beta fibrils, offering an unprecedented look at early events in Alzheimer’s disease. By combining DNA synthesis, genetically engineered yeast, and machine learning, they built a detailed energy landscape of the protein’s transition state—an elusive moment before plaque formation begins.

They discovered that fibril formation initiates at the C-terminal region of the A42 peptide, a key area to target in future treatments. This approach may also help decode protein aggregation in other neurodegenerative diseases.

Manganese-coordinated lipid nanoparticles boost VZV vaccine-induced T cell responses

2025-06-11 - 2025-06

Founded in 2006, the company also conducted health research and drug development. But it struggled to find a profitable business model and eventually filed for Chapter 11 bankruptcy protection back in March, raising concerns about the safety of customer data.

Genetic Susceptibility Identified in Case of Renal Abscess and Gouty Sacroiliitis

2025-06-10 - 2025-06

Gout, the most prevalent form of inflammatory arthritis, commonly presents as monoarthritis predominantly affecting peripheral joints. The sacroiliac joint is rarely involved. Gout is more common in men than women, and its prevalence varies across different racial groups.

Patients with gout are at increased risk for developing chronic kidney disease stage 3 compared with individuals without gout. Factors associated with that risk include the relationship between hyperuricemia and renal function. Elevated levels of uric acid may result in the formation of monosodium urate (MSU) crystals within the renal tubules, leading to obstructive nephropathy and subsequent inflammation and significant impairment of renal function and progression of kidney disease.

Genetics testing startup Nucleus Genomics criticized for its embryo product: ‘Makes me so nauseous’

2025-06-07 - 2025-06

Nucleus Genomics, a genetic testing startup founded by 25-year-old Kian Sadeghi, initially launched in 2021 with the goal of calculating a patient’s risk for specific diseases.

But it’s been courting controversy for years with products that claim to tell people how their genetics correlate to a host of complex issues, including their IQ.

On Wednesday, it ratcheted up the controversy to an earsplitting level when it announced a new product called Nucleus Embryo with a tweet that said: “Every parent wants to give their children more than they had. For the first time in human history, Nucleus adds a new tool to that commitment.”

Tracing the genetic trails of Colombia's early hunter-gatherers who disappeared completely

2025-06-02 - 2025-06

People coming from the north settled South America. The first hunter-gatherers entered the continent from the region of what is Colombia today and then spread out from there. An international research team from the University of Tübingen, the Senckenberg Center for Human Evolution and Palaeoenvironment and the Universidad Nacional de Colombia have now found genetic evidence of a previously unknown, early population.

Neuroscience and Genetics of ADHD and Neurodevelopment

2025-05-31 - 2025-05

A leading figure in molecular psychiatry shares how curiosity about DNA led to a career focused on unraveling the biological roots of neurodevelopmental conditions like ADHD. By bridging genetics, neuroscience, and psychiatry, their work has illuminated how variations in DNA and environmental influences shape brain development and behavior.

Using models from fruit flies to stem cells and leveraging data science, they aim to develop more precise and personalized mental health treatments. Their recent focus on epigenetics explores how life experiences can modify gene activity, offering new paths for early detection and prevention in psychiatric disorders.

How new centre is set to make Rwanda regional leader in cattle genetics

2025-05-30 - 2025-05

A $20 million centre being set up in Rwanda’s Huye District, Southern Province, is set to be a regional and even continental leader in genetic improvement for cattle production, according to implementers of a project under which it is being established.

The Songa Centre of Dairy and Genetic Excellence is part of a broader Rwanda Dairy Development Project - Phase 2 (RDDP 2), whose main funder is the International Fund for Agricultural Development (IFAD). It is implemented by the government of Rwanda, IFAD and other partners.

RDDP 2 is funded at a tune of $128 million, according to Dagmawi Habte-Selassie, IFAD Country Director and Representative Country for Rwanda and Burundi.

The Rwanda Agriculture and Animal Resources Development Board (RAB), and livestock sector actors describe it as the largest dairy single project Rwanda has ever had.

ALSO READ: Huye-based dairy breeding centre to get Rwf13bn boost

Habte-Selassie said the first phase of the centre is complete, adding “we're investing $9 million in the second phase.”

Proteomic Test Could Diagnose Thousands of Rare Genetic Diseases

2025-05-28 - 2025-05

Researchers at the University of Melbourne have developed a blood test that can analyze thousands of proteins in a single test to search for rare disease markers.

The researchers hope that their test could help to identify children and adults with rare diseases more quickly as these individuals often have to wait for as long as five years before they get a diagnosis.

How much of your disease risk is genetic It's complicated.

2025-05-26 - 2025-05

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body — and can clarify how diseases develop.Sitting in my doctor's examination room, I was surprised when she told me, "Genetics don't really matter for chronic disease." Rather, she continued, "A person's lifestyle, what they eat, and how much they exercise, determine whether they get heart disease."

As a researcher who studies the genetics of disease, I don't fully disagree — lifestyle factors play a large role in determining who gets a disease and who doesn't. But they are far from the entire story. Since scientists mapped out the human genome in 2003, researchers have learned that genetics also play a large role in a person's disease risk.

Parents’ Age, Ancestry, and Habits Shape New DNA Mutations

2025-05-19 - 2025-05

A massive genomic study has revealed that parental age, ancestry, and smoking habits subtly influence the number of new genetic mutations (de novo mutations) passed from parents to children. By analyzing whole-genome data from 10,000 parent-child trios, researchers found that most variation in mutation rates comes from parental age, especially the father’s.

However, small differences were also observed between ancestry groups and in children of parents with a smoking history. These findings challenge the assumption that mutation rates are uniform across populations and environments.

Scientists reveal how upbringing and genetics interact to shape success

2025-05-16 - 2025-05

In a recent article published in the journal Nature Communications, researchers examined the environmental and genetic contributions to four key indicators of socioeconomic status (SES) in Norway, namely wealth, income, occupational prestige, and educational attainment. Their findings indicate that genetic variation consistently explained more of the differences in educational attainment and occupational prestige, with education generally showing the highest genetic influence.

Family-shared environmental factors, on the other hand, contributed more to variations in educational attainment and wealth. The study notes that its estimates might be most applicable to a middle-class to upper-middle-class Norwegian population due to sample characteristics. The authors also note that their findings may not be generalizable to more socioeconomically diverse or non-European populations.

Study suggests health differences between men women involve social factors not only biological

2025-05-14 - 2025-05

New Delhi, May 13 (PTI) Genetics may not solely explain the biology which cause different health risks, symptoms and outcomes between men and women -- social factors such as neighbourhood and lifestyle too need to be looked at, according to a study.
The research, led by Queen Mary University, UK, analysed genetic links between nearly 6,000 proteins and diseases in 56,000 people.
A "very small" fraction -- around 100 proteins -- were found to be responsible for differing levels of majority of the 6,000 proteins studied between men and women.
Findings, published in the journal Nature Communications, "clearly show that with very few exceptions, protein regulating genetic variants identified so far behave in a very similar way in males and females," Claudia Langenberg, director of Precision Healthcare University Research Institute, Queen Mary University, said.
"This provides evidence for an important implicit assumption -- that insights arising from studying these (genetic) variants apply to both sexes," Langenberg said.
The study highlights the importance of looking beyond genetics and medical factors, such as hormones, and looking at non-medical, social factors -- where people work and live, education, lifestyle, finances -- when comparing health risks and outcomes between men and women, the authors said.
The study's findings are "essential to guide precision medicine approaches and identify where one size may not fit all", Langenberg said.

"Everyone Is A Cousin" In This Village. Courtesy: A Rare Genetic Condition

2025-05-13 - 2025-05

A small village in Brazil is afflicted with Spoan syndrome, a rare hereditary illness that weakens the body over time by affecting the nervous system. A 2010 study, headed by geneticist and biologist Silvana Santos, found that more than 30 per cent of couples in Serrinha dos Pintos were related.

Spoan syndrome occurs only when both parents carry the mutated gene, the BBC reported.

Ms Santos visited Serrinha dos Pintos, a secluded community tucked away in the northern Brazilian hills, more than 20 years ago.

The village, with less than 5,000 residents, has long struggled with a perplexing medical riddle. Several children were reportedly losing their ability to walk, and families had no idea why.

Genetics, Not Parenting, Shapes Personality

2025-05-09 - 2025-05

New research challenges many widely held beliefs in psychology, revealing that genetics may play a greater role in shaping personality than parenting. The findings also dispute common assumptions about gender-based personality differences, the power of subliminal messaging, and the effectiveness of brain training.

Misconceptions about mental illness are also addressed, emphasizing that mental health conditions arise from complex genetic, social, and environmental factors rather than life events alone. The work calls for critical thinking, skepticism toward oversimplified media portrayals, and higher standards for psychological research and classification systems.

Genetics of Korea’s extreme divers could unlock chronic disease treatments

2025-05-08 - 2025-05

The secret to tackling one of the United States’ most deadly chronic diseases may reside thousands of miles away in the chilly waters separating the Korean Peninsula and Japan, where generations of Jeju Island women have been diving to gather food from depths of up to 60 feet using only the bodies that genes and conditioning have given them.

Vinay Prasad to Replace Peter Marks in Genetic Medicine Review Office

2025-05-07 - 2025-05

Vinay Prasad will assume leadership of the office responsible for reviewing certain genetic medicines, a role previously overseen by Peter Marks. This transition introduces a new figure to a field of research that has faced challenges. Prasad, known for his vocal opposition to Marks’ policies, will now guide the office’s evaluations of specific genetic medicines. His appointment brings a different perspective to the review process within this sector of research. The field has experienced difficulty, and Prasad’s leadership adds an element of unpredictability as the office moves forward with its responsibilities.

Korea’s ‘amazing’ Haenyeo divers show unique genetic adaptations

2025-05-06 - 2025-05

A new study has presented evidence of both genetic adaptation and physiological changes among the Haenyeo, a unique group of women in South Korea’s Jeju Island known for diving up to 10 m underwater and up to seven hours a day to collect shellfish.

New AI breakthrough to revolutionise diagnosis, treatment of genetic diseases

2025-05-03 - 2025-05

Artificial intelligence (AI) could soon play a pivotal role in diagnosing and treating genetic disorders, according to a study.

The study, led by researchers at the Australian National University (ANU) in Australia, marks a significant step toward more precise, personalised medicine by harnessing the power of new data tools, Xinhua news agency reported.

Published in Nature Communications, the study combines AI-powered protein models with genome sequencing to better understand how mutations affect human health.

Plants are losing genetic diversity and it's visible from space, study finds

2025-05-02 - 2025-05

Mountain regions hold rich biodiversity but are now under pressure. Global warming and changing land use are transforming open grasslands fast. For fifty years, higher temperatures and fewer grazing activities have helped trees and shrubs take over. This process, called “mountain greening”, is pushing out low-growing native plants.

One such plant is Sideritis, used for teas and medicine. Found mainly in the Mediterranean mountains, it treats colds, coughs and stomach problems. Its presence signals the health of open mountain ecosystems. Now, it is under threat from habitat changes.

Scientists unlock genetic key to higher peanut yield

2025-04-30 - 2025-04

Their pan-genome analysis, revealing the structural variation associated with seed size and weight traits in peanut (Arachis hypogaea L.), was published in the latest edition of Nature Genetics, a peer-reviewed scientific journal.

The researchers from Western Australia’s Murdoch University, Henan Agricultural University, Shanghai Jiao Tong University, and the Shandong Academy of Agricultural Sciences assembled a pan-genome of peanut expected to serve as a fundamental resource for the genetic enhancement of legume crops.

Extended surgery could help lower risk of 2nd cancer in patients with genetic condition

2025-04-29 - 2025-04

In patients of Lynch syndrome—an inherited condition -- risk of developing a second tumour could be lower among those having an extended resection, involving a removal of organs and tissues adjacent to the affected ones, compared to segmental resection, according to a study.

The inherited condition increases one’s risk of cancer, especially that of colon and rectum.

An international collaboration, including researchers from the Institute of Human Genetics, Ahmedabad, compared the incidence of metachronous colorectal cancer—the second cancer develops distinct from and at least six months following diagnosis of the first—after segmental versus extended surgical resection in patients with Lynch syndrome.

Chinese and other global scientists jointly solve genetics mystery of Mendel's peas

2025-04-25 - 2025-04

A team of international scientists, mainly from China and the United Kingdom, has jointly identified the genetic variants behind all seven traits used by Gregor Mendel more than 160 years ago to discover the basic laws of inheritance, solving a long-standing mystery in biology. The findings were published this week in the journal Nature.

The study, titled Genomic and genetic insights into Mendel's pea genes, was led by Cheng Shifeng, a professor of the Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, alongside Noam Chayut and Noel Ellis, who are professors at the UK-based John Innes Centre.

By combining modern genomics, high-throughput phenotyping, and computational biology, the team revisited Mendel's landmark 1865 experiments with garden peas

Marriage within the community: How endogamy affects genetic health of Indians

2025-04-24 - 2025-04

Marrying within communities is prevalent in India, which has increased the risk of population-specific diseases. Educating people, encouraging them to undergo genetic screening, and government interventions are necessary to manage the rising genetic diseases.
In several regions across India, marriages within the same community or amongst relatives have contributed to a rise in certain inherited health conditions.

This widespread cultural practice of marrying within the same communities, castes, and religions is called endogamy.

According to the National Family Health Survey 2005-06, most marriages occurred within the same religions, castes, communities, and ethnic groups, with only 10% being inter-caste and just 2.1% being interreligious.

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.

The Bottleneck: A Population Crash That Shaped Our Genetics
The genetic bottleneck refers to a sharp reduction in the size of a population due to environmental pressures or catastrophic events. In this case, around 930,000 years ago, early humans were hit by a severe climate crisis. This led to drastic drops in population—with only 1,280 breeding individuals surviving the bottleneck period. The genetic diversity during this time shrank by around 66%, significantly affecting the future evolution of the species.

The gap in fossil records during this period, especially in Africa and Eurasia, can now be attributed to this population collapse. According to Giorgio Manzi, an anthropologist from Sapienza University of Rome, “The gap in the African and Eurasian fossil records can be explained by this bottleneck in the Early Stone Age.” The limited population led to inbreeding and a loss of diversity, which left a profound impact on the species’ genetic evolution.

Why Orange Cats Are Almost Always Male, New Genetic Research Reveals

2025-04-19 - 2025-04

For decades, scientists couldn’t explain why orange cats are so uniquely colored—or why most of them are male. Now, a surprising genetic twist might finally have cracked the code.

After more than 60 years of genetic guessing, scientists have finally cracked the code behind what makes orange cats so… orange. In two separate studies published on bioRxiv, researchers have identified a specific DNA deletion on the X chromosome that turns a regular cat into a fiery feline. The discovery sheds new light on how genetics drive fur color—and why orange cats are almost always male.

Researchers found that orange cats have a 5,000-base-pair deletion just before a gene called Arhgap36. This deletion causes the gene to become overactive, especially in melanocytes, the pigment-producing cells in skin.

Long-Read Sequencing Pinpoints Genetic Basis for Psychiatric Diagnosis in Pediatric Case

2025-04-17 - 2025-04

Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego have successfully applied long-read genome sequencing to reveal the genetic underpinnings of complex psychiatric conditions in a 17-year-old patient, showcasing the potential of this advanced technology for clinical diagnosis and future gene therapies.

In the recent study, “Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, Intellectual Disability, and Behavioral Decompensation,” published in the American Journal of Psychiatry, researchers utilized the PacBio Revio platform, a long-read sequencing technology, to pinpoint the diagnosis of RFX3 haploinsufficiency syndrome in an adolescent with autism spectrum disorder and intellectual disability.

Beanbag genetics

2025-04-16 - 2025-04

Life is immensely complex. At every level, from molecules and cells to entire organisms and the intricate ecological balance between species, biologists are amazed by the staggering complexity and interconnectedness of life.

Historically, biologists have approached the complexity of life in two ways. Peering into the tapestry of complexity, one way is to search for general threads of order that weave together seemingly disparate facts. For example, while life is incredibly diverse, all living things are well fit to their environment. Charles Darwin, the father of evolution, discovered that a single process explained how this happened – he called it natural selection. All species have variation in their traits – some have thicker fur or longer beaks – and if any of those differences help the organism survive and reproduce, it will pass on that trait to future generations.

Over time, this moulds organisms to become well adapted to their environment. In this view, evolutionary theory becomes a unifying idea in biology. All organisms, from microbes to jellyfish, ferns to elephants, are connected by the common thread of evolution. If there are truly universal laws governing how organisms evolve, then we should be able to represent these rules mathematically in the same way a physicist expresses universal concepts like the laws of motion. This approach has been taken by population genetics – since its beginnings in the 1910s, population geneticists have derived hundreds of mathematical equations to describe how evolution occurs under a myriad of conditions. Often, these equations are agnostic to whether the organism is a bird or a shrimp, they are concerned only with transmission rules (that is, how genes are passed on to the next generation), and the processes that bias those rules (ie, evolutionary forces).

The other way of approaching complexity is to look upon the tapestry and conclude that no general rule or law can unite these threads. Biology is not like physics – there are too many variables in the real world to represent life as a mathematical expression. A single concept like ‘natural selection acting on variation’ cannot possibly help us understand why some microorganisms, like Paramecium, have scrambled DNA that has to be rewired every time they need to build a new cellular feature. Or how genes get turned off or on by interacting with an intricate array of molecules that are themselves modulated by different environmental cues. To understand life is to study each molecule, cell, individual and species as a unique feature of the world. Evolution, in this view, becomes the study of a mountain of individual facts, each of which tell us something new about evolution as a process. Each new discovery is a paradigm shift, a cause to update the textbooks, and promotes the view that evolutionary theory is in a constant state of extension and revision.

Unlocking the genetic basis of animal behavior using fruit flies Researchers from Japan create a large behavioral dataset for fruit flies image:

2025-04-15 - 2025-04

The study provides a comprehensive behavioral dataset of Drosophila melanogaster, categorized by genetic background, sex, and social context (isolated or in groups). Beyond enabling detailed analyses of behavioral mechanisms and genetic factors underlying locomotion, fear responses, and social interactions, this dataset provides a unique opportunity to examine individual behavioral variability within genetically identical flies, as well as to develop tracking tools.

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Credit: Assistant Professor Daiki Sato from Chiba University, Japan.

Years of research in the field of genetics have offered interesting insights spanning the origins and development of heredity and traits, offering valuable information on its influence on every aspect of life, right from eye color to susceptibility to certain diseases. But how do our genes influence the way we act, react to threats, and interact with others Despite the recent advances in genetics, understanding the genetic foundations of behavior remains one of biology’s most fascinating challenges. Scientists have long turned to simpler organisms to help answer these questions, with the humble fruit fly emerging as an ideal candidate. These tiny insects share many genes with humans that are linked to various diseases, making them valuable models for understanding the relationship between genetics and behavior. Moreover, their short lifespan, ability to reproduce quickly, and produce numerous offsprings also allows researchers to conduct large-scale studies in a cost-effective manner.

However, creating meaningful connections between genes and behavior requires extensive, high-quality data, as this data needs to capture a wide range of behavioral patterns under various conditions. Against this backdrop, a research team led by Assistant Professor Daiki Sato, along with Mr. Takahira Okuyama and Associate Professor Yuma Takahashi from Chiba University, Japan, has now compiled an unprecedented behavioral dataset of Drosophila melanogaster. Their study, published in Volume 12 of Scientific Data on March 7, 2025, documents the behaviors of over 30,000 individual D. melanogaster, commonly known as fruit fly, across 105 genetically distinct strains, including 104 wild-type strains and one visually impaired mutant.

When mom has diabetes, baby might too: The hidden risk few talk about

2025-04-14 - 2025-04

Then Shamita and Raj Sinha (names changed) were expecting their first child, they were filled with excitement. But at just 30 weeks into the pregnancy, things took an unexpected turn.

Shamita, who had gestational diabetes (diabetes during pregnancy), had to undergo an emergency delivery due to a complication. Their baby was born very early, at 30 weeks and weighed only 1.1 kg.

Genetic Mutations Leading to Epilepsy Disorder Identified

2025-04-11 - 2025-04

A landmark international study has identified a previously unknown genetic cause of neurodevelopmental disorders (NDDs), potentially bringing long-awaited diagnoses and clarity to families worldwide. The discovery, led by scientists at the Icahn School of Medicine at Mount Sinai and published in Nature Genetics, links mutations in a small non-coding gene called RNU2-2 to a severe form of NDD that includes prominent epilepsy.

The role of RNU2-2 and noncoding RNA

RNU2-2 is a type of small nuclear RNA (snRNA), part of the spliceosome complex responsible for processing pre-mRNA into mature transcripts. Unlike typical genes, RNU2-2 does not encode a protein but plays a key role in gene regulation. The new study reveals that mutations in this gene disrupt RNA splicing and gene expression during brain development.

Breakthrough molecule offers hope for treating rare mitochondrial diseases

2025-04-10 - 2025-04

A medical breakthrough could result in the first treatment for rare but serious diseases in which genetic defects disrupt cellular energy production. Researchers at the University of Gothenburg have identified a molecule that helps more mitochondria function properly.

Mitochondrial diseases caused by POLG mutations vary in severity. In young children, these diseases can quickly result in brain damage and life-threatening liver problems while others suffer muscle weakness, epilepsy, and organ failure later in childhood. POLG mutations recently received media attention when Prince Frederik of Nassau in Luxembourg died in March 2025 at just 22 years of age.

The POLG gene regulates the production of DNA polymerase gamma, an enzyme that copies mitochondrial DNA. Without it, the mitochondria cannot function normally and, as a result, fail to provide the cell with energy.

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.

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.

X vs. Y: The Hidden Genetic War That Decides Sex

2025-04-08 - 2025-04

Deep within the cells of mice, a genetic arms race is unfolding between X and Y chromosome genes, battling for dominance in sperm.
Researchers have now discovered how these gene families compete by hijacking key proteins to boost the odds of producing male or female offspring. Using an ingenious yeast-based model, scientists are unraveling the molecular chess game that helps maintain the evolutionary balance of the sexes.

What Is Evolutionary Fitness
In evolutionary terms, fitness is defined as an organism’s ability to survive and reproduce its genes into the next generation.

Genes influence fitness, sometimes competing against each other within an organism.

This competition, or arms race, is typically hard to observe–except when the genes in question live on the X and Y chromosomes, which determine the sex of offspring in mammals.

In mice, this arms race can result in broods that have more males or females.

World Health Day: Role Of Genetic Testing In Pregnancy Management For Healthier Outcomes

2025-04-07 - 2025-04

Over the last few years, the integration of scientific research and technology applications in the healthcare space has enabled access to many innovative solutions, increasing the focus on preventive healthcare. With nearly 25 million births in India each year and the rising burden of genetic disorders, pregnancy care has evolved from conventional approaches to methods that incorporate genetic testing, offering a deeper understanding of inherited conditions. Genetic insights allow individuals and families to make informed decisions, reduce the risk of preventable health issues, and move towards a healthier future. As we celebrate World Health Day this year, Dr Priya Kadam, Director of Reproductive Genomics, MedGenome helps us look at the transformative role of genetic testing in shaping personalized healthcare.

How the Flowerpot Snake’s Unique DNA Repair Mechanism Works

2025-04-04 - 2025-04

The flowerpot snake, one of the world’s smallest snakes, has some unusual distinctions. Also known as the Brahminy blind snake, it's the only known snake species with three sets of chromosomes instead of two—and it can reproduce without a mate.

By analyzing the flowerpot snake’s unique genome, scientists at The University of Texas at Arlington are uncovering how the tiny reptile repairs its DNA and prevents harmful mutations. The findings, published recently in the journal Science Advances, provides valuable insights into genetic repair mechanisms that could deepen our understanding of human gene evolution.

Flowerpot snake's DNA repair ability provides insights into human genetic conditions like Down syndrome

2025-04-03 - 2025-04

The flowerpot snake, one of the world's smallest snakes, has some unusual distinctions. Also known as the Brahminy blind snake, it's the only known snake species with three sets of chromosomes instead of two—and it can reproduce without a mate.By analyzing the flowerpot snake's unique genome, scientists at The University of Texas at Arlington are uncovering how the tiny reptile repairs its DNA and prevents harmful mutations. The findings, published in the journal Science Advances, provide valuable insights into genetic repair mechanisms that could deepen our understanding of human gene evolution.

Understanding The Genetic Link To Autism And How Genetic Testing Can Help

2025-04-02 - 2025-04

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition affecting social communication, behaviour, and sensory processing. While its causes are multifactorial, genetics play a significant role. Understanding these genetic influences through testing provides valuable insights for individuals, families, and healthcare providers. Dr. Nilanju Sarmah, Guest Author, Head R&D and Academics, Metropolis Healthcare Limited shares all you need to know

Understanding Down Syndrome: The genetic disorder affecting kids

2025-03-31 - 2025-03

The combination of medical advancement with educational backing and societal acceptance allows individuals with Down syndrome to reach higher levels of independence and social integration. Read below to find out more.
Down syndrome is a genetic disorder that occurs when a person receives an extra copy of their chromosome 21, known as Trisomy 21. The additional genetic material disrupts typical development, which produces unique physical traits in addition to different levels of intellectual impairment. The chromosomal condition of Down syndrome represents the most common genetic syndrome that affects people worldwide, regardless of their racial heritage, gender identity, or economic status

‘What did Kanchan chachi die of’: When Twinkle Khanna said she investigated Akshay Kumar’s genes before wedding; role of partner’s medical history in marriage decisions

2025-03-28 - 2025-03

Married for over 18 years, Akshay Kumar and Twinkle Khanna have long been considered one of Bollywood’s most adored couples. While Akshay is known for his discipline, fitness, and action-packed career, Twinkle is equally celebrated for her sharp wit and candid nature.

The two tied the knot on January 7, 2001, in an intimate ceremony attended by close friends and family, and the news of their wedding only became public much later. What many didn’t know until years later, however, was that Twinkle had taken an unusually pragmatic approach before saying “yes” to Akshay.

Appearing on Koffee With Karan in 2016, Twinkle revealed that she had investigated her soon-to-be husband’s family health history before making her decision. She explained, “The reason you get married is primarily to have children. So, you are introducing this genetic strain into your family line. I wanted to know what diseases run in his family. At what age did his uncles lose their hair What did Kanchan chachi die of"

US FDA approves first treatment for rare genetic disorder Prader-Willi syndrome

2025-03-27 - 2025-03

March 26 (Reuters) - The U.S. Food and Drug Administration on Wednesday approved Soleno Therapeutics' (SLNO.O), opens new tab drug to treat a rare genetic disorder, making it the first treatment available for patients who experience feelings of intense and persistent hunger.
The drug, to be called Vykat XR, treats hyperphagia, the hallmark symptom of the Prader-Willi syndrome, a genetic disorder caused by full or partial deletions on chromosome 15 that affect the regulation of gene expression, or how genes turn on and off.
The debilitating condition, which affects about 50,000 people in the U.S., impacts everyday aspects of life, such as eating, behavior and mood.
Starting in April 2025, Soleno plans to make the drug available in the U.S. for patients aged four years and older who have PWS with hyperphagia. The drug will have an annual average cost of $466,200 and will be dosed as per patients' weight, the company said.
The syndrome's symptoms appear immediately, with infants born with low muscle tone and an inability to breastfeed. As patients grow older, children develop hyperphagia, a feeling of insatiable hunger persisting even after meals. This could occur as early as age four but, on average, starts at about age eight and then continues into adulthood.

Genetic testing firm 23andMe files for bankruptcy

2025-03-26 - 2025-03

Gene testing firm 23andMe said on Sunday it had filed for Chapter 11 bankruptcy protection in order to facilitate its sale, after years of struggling to find a sustainable business model.

In a statement announcing the bankruptcy, the firm said its CEO, Anne Wojcicki, had resigned effective immediately. She will remain on the company’s board of directors.

“After a thorough evaluation of strategic alternatives, we have determined that a court-supervised sale process is the best path forward to maximize the value of the business,” Mark Jensen, chair and member of the Special Committee of the board of directors, said in the statement.

Part of the genetic risk for schizophrenia acts through the placenta

2025-03-24 - 2025-03

The study, which involved 28 researchers from 18 institutions across Europe and the United States, highlights the placenta as a key element in neuropsychiatric development. The research has demonstrated that specific epigenetic modifications in the placenta, particularly DNA methylation, can influence the expression of genes associated with psychiatric disorders. These findings suggest that genetic risk may already manifest during the prenatal stage.

Epigenetic modifications are chemical changes in DNA and its associated proteins that regulate gene activity without altering their sequence. One of the most studied modifications is DNA methylation, a process in which methyl groups small molecules composed of one carbon and three hydrogen atoms are added to specific regions of the DNA.

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Genetic testing firm 23andMe files for bankruptcy

Part of the genetic risk for schizophrenia acts through the placenta

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