Science
1 gene, 1 disease no more – acknowledging the full complexity of genetics could improve and personalize medicine
Genetic disease development is influenced by multiple variants, not just a single mutation. Research indicates that primary mutations interact with secondary variants, affecting symptom severity. This complexity necessitates broader genomic understanding for better disease prediction and personalized medical care.
Last Updated on October 13, 2025 by Daily News Staff
Santhosh Girirajan, Penn State
Genetic inheritance may sound straightforward: One gene causes one trait or a specific illness. When doctors use genetics, it’s usually to try to identify a disease-causing gene to help guide diagnosis and treatment. But for most health conditions, the genetics is far more complicated than how clinicians are currently looking at it in diagnosis, counseling and treatment.
Your DNA carries millions of genetic variants you inherit from your parents or develop by chance. Some are common variants, shared by many people. Others are rare variants, found in very few people or even unique to a family. Together, these variants shape who you are – from visible traits such as height or eye color to health conditions such as diabetes or heart disease.
In our newly published research in the journal Cell, my team and I found that a genetic mutation involved in neurodevelopmental and psychiatric conditions such as autism and schizophrenia is affected by multiple other genetic variants, changing how these conditions develop. Our findings support the idea that, rather than focusing on single genes, taking the whole genome into account would provide insight into how researchers understand what makes someone genetically predisposed to certain diseases and how those diseases develop.
Primary and secondary variants
Certain rare variants can cause problems on their own, such as the genetic mutations that cause sickle cell anemia and cystic fibrosis. But in many cases, whether someone actually develops symptoms of disease depends on what else is happening across the genome.
While a primary variant might trigger a disease, secondary variants can alter how that disease develops and progresses. Think of it like a song: The melody (primary variant) is the main part of the song, but the bassist and drummer (secondary variants) can change its groove and rhythm.
That’s why two people with the same genetic mutation can seem so different. One person might have severe symptoms, another person mild symptoms, and another none at all. These variations can even occur within the same family. This phenomenon, called variable expressivity, arises from differences in the secondary variants a person has. In most cases, these variants amplify the effects of the primary mutation. A higher number of secondary variants on top of a primary variant generally leads to more severe disease. https://www.youtube.com/embed/D0XYWKm_LoM?wmode=transparent&start=0 Mutations are a source of genetic variation.
Sometimes, a primary variant and a secondary variant together can cause two different disorders in the same person, such as Prader-Willi syndrome and Pitt-Hopkins syndrome. Other times, secondary variants have no obvious effect on their own but together can tip the balance of whether and how a disease will appear, even in the absence of a primary variant. This can be seen in the development of heart disease in children.
Insights from a missing piece of a chromosome
My team and I studied a genetic change known as a 16p12.1 deletion, where a small piece of chromosome 16 is missing. Researchers have linked this mutation to developmental delay, intellectual disability and psychiatric conditions such as schizophrenia. Yet most children inherit this genetic variant from a parent who has milder symptoms, different symptoms or sometimes no symptoms at all.
To understand why this happens, we analyzed 442 individuals from 124 families carrying this genetic mutation. We found that children lacking this piece of chromosome 16 had more secondary variants elsewhere in the genome compared to their carrier parents. These secondary variants took many forms, including both small changes and large deletions, duplications and expansions of their DNA.
Each type of secondary variant was associated with different health outcomes. Some were linked to smaller head size and reduced cognitive function, while others contributed to higher rates of psychiatric or developmental symptoms. This suggests that while a 16p12.1 deletion makes the genome more sensitive to neurodevelopmental disorders, which symptoms manifest depends on which other variants are present.
The story gets even more complex when considering the fact that children not only inherit a 16p12.1 deletion from one parent but also inherit secondary variants from both parents.
My team and I found that the symptoms of the parent with this genetic mutation often match those of their spouse. For example, a parent with a 16p12.1 deletion who shows signs of anxiety or depression is more likely to have a partner who also has these symptoms. This pattern, called assortative mating, means that when parents with overlapping genetic risks have children, those risks can combine and accumulate.
Over generations, this stacking of secondary variants can lead to children who have more severe symptoms than their parents.
Biases in genetics research
One reason why scientific understanding of secondary variants has lagged is that genetic research often depends on who is recruited to participate in these studies and how researchers recruit them.
Most studies recruit patients affected with a particular disease. Families recruited from genetic clinics typically have children with severe versions of the disease. But if studies focus only on patients with the most acute symptoms, researchers may overestimate the effects of primary variants and miss the subtler role that secondary variants may play in how a disease develops.
But if researchers were to study people drawn from the general population – say, by recruiting people from a large shopping mall – some might carry the same primary variant but have far milder symptoms or none at all. This variability allows researchers to better dissect how different parts of the genome interact with each other and affect how a disease develops.
In our study, for example, we found that people with a 16p12.1 deletion who were recruited from the general population often had milder symptoms and different patterns of secondary variants compared to those who were recruited in a clinic.
Embracing complexity in genetics
Instead of a deterministic view where one mutation equals one outcome, a more complex model accounts for the fact that whether and how a disease develops depends on the interplay between different genetic variants and environment. This has implications for how genetics is used in the clinic.
Currently, a child who tests positive for a genetic variant might be diagnosed with a disease tied to that mutation. In the future, doctors might also examine the child’s broader genetic profile to better predict their developmental trajectory, psychiatric risk or response to therapies. Families could be counseled with a more realistic picture of their child’s probability of developing a disease, rather than assuming every person with the same genetic variant will share the same outcome.
The science is still emerging. Larger and more diverse datasets and models that can better capture the subtle effects of genetic variants and environmental factors are still needed. But what’s clear is that secondary variants are not secondary in importance.
By embracing this complexity, I believe genetics can move closer to its ultimate promise: not just explaining why disease happens, but predicting who is most at risk and personalizing care for each individual.
Santhosh Girirajan, Professor of Biochemistry, Molecular Biology and Genomics, Penn State
This article is republished from The Conversation under a Creative Commons license. Read the original article.
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Space and Tech
I’ve fired one of America’s most powerful lasers – here’s what a shot day looks like
A lead scientist takes you inside the Texas Petawatt at UT Austin, where hours of careful alignment and safety checks build to a single, breath-holding laser shot that briefly creates star-like conditions in a vacuum chamber.
Ahmed Helal, The University of Texas at Austin
If you walk across the open yard in front of the Physics, Math and Astronomy building at the University of Texas at Austin, you’ll see a 17-story tower and a huge L-shaped building. What you won’t see is what’s underneath you. Two floors below ground, behind heavy double doors stamped with a logo that most students have never noticed, sits one of the most powerful lasers in the United States.
I was the lead laser scientist on the Texas Petawatt, or TPW as we called it, from 2020 to 2024. Texas Petawatt, which is currently closed due to funding cuts, was a government-funded research center where scientists from across the country applied for time to use specialized equipment. It was part of LaserNetUS, a Department of Energy network of high-power laser labs.
This type of laser takes a tiny pulse of light, stretches it out so it doesn’t blast optics to pieces, and amplifies it until, for a brief instant, it carries more power than the entire U.S. electrical grid. Then it compresses the pulse back to a trillionth of a second to create a star in a vacuum chamber.
On a typical shot day, the target might be a piece of metal foil thinner than a human hair, a jet of gas or a tiny plastic pellet – each designed to answer a different scientific question.
Scientists from across the country applied for time on TPW to study everything from the physics of stellar interiors and fusion energy to new approaches for cancer treatment.
Most people hear about petawatt lasers and picture something out of a movie. A “shot day” is actually hours of quiet, repetitive work followed by about 10 seconds where nobody breathes.
I now work as a research scientist at the University of Texas-Austin, studying the interaction of lasers with different materials, but a typical shot day during my time running TPW would look like this:
7 a.m.
I arrive two hours before the first scheduled shot. I put on my gown, boots and hairnet and step into the cold clean room. The laser doesn’t just turn on. You coax it awake.
I start with the oscillator, a small box that generates the first seed of light. I write down the parameters that define how the laser will behave during the shot: energy, center frequency, vacuum pressure in the tubes, cooling water level and flow. At this stage, they are fixed regardless of the experiment. The laser must perform the same way every time before the science can begin. Then I fire up the pump laser that will amplify this tiny pulse from nanojoules to about half a joule.
The system needs at least 30 minutes to stabilize. During that time, I check alignment through every pinhole and every camera along the beam path. A slight misalignment at this stage isn’t just a problem; it can be catastrophic – a mispointed beam at full power can burn through optics that take months to source and replace, setting the entire laser back.
Building the beam
Once the system is warmed up, I send the beam into the first amplifier: a glass rod surrounded by bright flash lamps that pump light into the glass – like charging a battery. With each pass, the beam absorbs energy from the glass and grows stronger. Then the beam travels into a larger rod, where it makes four passes, picking up more energy each time until it reaches about 12 joules, roughly the energy of a ball thrown hard across a room.
This process alone takes the better part of an hour, most of it spent checking and confirming alignment and energy at each stage.
I expand the beam and send it through the final stage: the disk amplifiers. Two amplifiers, each consisting of two massive 30-centimeter glass disks, are pumped by a huge bank of flash lamps powered by capacitor banks – essentially giant batteries that store electrical energy and release it in a sudden burst. They are so large that they have their own room on a separate floor. Fast optical shutters between each stage act as gates, controlling exactly when and where the beam travels.
The shot
When the experimental team confirms that the target is in position, it asks me to prepare for a system shot. I run through the long checklist. We test the shutters and switch to system shot mode. Every monitor in the facility changes to display the same message – “System Shot Mode” – and flashes red.
I lean into the microphone at the control desk, a vintage piece that looks like it belongs in a World War II radio room, and announce that we’re going into a system shot. Then I open the compressor beam dump: a heavy glass plate that normally blocks the beam from reaching the target. It takes about two minutes to move.
“Sweeping, sweeping for a system shot.”
The announcement goes out over speakers across the facility. I grab a small interlock key, put on my laser safety goggles and head downstairs. I walk a specific pattern through every room, checking that nobody is still inside. As I go, I lock each door with the key. If anyone opens one of those doors after I’ve locked them, the entire shot sequence aborts.
Back in the control room, I sit down and start charging the capacitor banks. At this point, there’s no going back except for an emergency shutdown, and that means losing the shot and waiting for everything to cool down.
“Charging.”
The room goes silent. Everyone’s eyes are on the monitors. Nobody talks.
I typically will share a glance with the researcher whose project the shot is for – today it’s Joe, a visiting scientist from Los Alamos National Lab, who designed the target we’re about to vaporize. He’s gripping his coffee cup like it owes him money. I turn back to the console.
“Charge complete. Firing system shot in three, two, one. Fire.”
I press the button. A loud thud rolls through the building as all that stored energy dumps into the beam. The monitors freeze, capturing everything at the moment of the shot: beam profiles, spectra, diagnostics – these metrics provide a full picture of exactly how the laser performed and whether the shot was clean. Downstairs, in the vacuum chamber, a spot smaller than a human hair just reached temperatures measured in millions of degrees.
I lean back in my chair and start recording laser parameters as everyone exhales. A radiation safety officer heads down first to check readings around the target chamber before anyone else can enter. The experimental team follows to collect data.
Sometimes it all works perfectly. Sometimes a shutter fails to open and you lose the shot.
For example, one afternoon in 2023, we’d spent three hours preparing for a high-priority shot. Target aligned. Capacitors charged. I pressed the button and heard nothing. A shutter had failed somewhere in the chain. The monitors stayed frozen, showing black. Nobody said anything. I wrote SHOT FAILED in the logbook and started the hourlong cooldown sequence. That’s the part they don’t show in movies: sitting in silence, waiting to try again. We got the shot four hours later.
This anticipation is all part of the job: hours of patience for 10 seconds you never quite get used to. Everything happens underneath a campus where thousands of people walk above, unaware that for a fraction of a second, a tiny point of matter hotter than the surface of the Sun just existed below their feet.
Ahmed Helal, Research Scientist, The University of Texas at Austin
This article is republished from The Conversation under a Creative Commons license. Read the original article.
The science section of our news blog STM Daily News provides readers with captivating and up-to-date information on the latest scientific discoveries, breakthroughs, and innovations across various fields. We offer engaging and accessible content, ensuring that readers with different levels of scientific knowledge can stay informed. Whether it’s exploring advancements in medicine, astronomy, technology, or environmental sciences, our science section strives to shed light on the intriguing world of scientific exploration and its profound impact on our daily lives. From thought-provoking articles to informative interviews with experts in the field, STM Daily News Science offers a harmonious blend of factual reporting, analysis, and exploration, making it a go-to source for science enthusiasts and curious minds alike. https://stmdailynews.com/category/science/
Science
New Glenn’s Third Mission Set for April 19 as Blue Origin Advances Commercial Space Capabilities
CAPE CANAVERAL, Fla. — Blue Origin has confirmed the launch window for the third mission of its heavy-lift New Glenn rocket, marking another step forward in the company’s expanding role in commercial spaceflight.
New Glenn’s Third Mission
Launch Details and Timeline
The mission is scheduled to lift off no earlier than Sunday, April 19, 2026, from Launch Complex 36 at Cape Canaveral Space Force Station. The two-hour launch window opens at 6:45 a.m. EDT (10:45 UTC) and closes at 8:45 a.m. EDT (12:45 UTC).
Viewers can follow the mission through a live webcast hosted by Blue Origin, beginning approximately 30 minutes before liftoff.
Mission Payload: Expanding Space-Based Connectivity
At the heart of the mission is the deployment of the BlueBird 7 satellite, developed by AST SpaceMobile. The satellite is designed to enhance a growing direct-to-smartphone broadband network, an emerging technology aimed at delivering connectivity to standard mobile devices without the need for ground-based towers.
BlueBird 7 will contribute to expanding network capacity and is expected to support initial service rollout plans targeted for 2026. The broader initiative reflects a significant shift in how satellite infrastructure could complement terrestrial telecom systems, particularly in underserved or remote regions.
Reusability Milestone: Booster Returns Again
A key feature of this mission is the planned reuse of New Glenn’s first-stage booster, “Never Tell Me The Odds.” The booster previously demonstrated a successful launch and landing during the rocket’s second mission in November, underscoring Blue Origin’s commitment to reusable rocket technology—a cornerstone of cost reduction and operational efficiency in modern spaceflight.
If successful, this mission will further validate the reliability of the New Glenn system and strengthen its competitiveness in a market increasingly shaped by reusable launch vehicles.
Industry Context: Competing in a Rapidly Evolving Market
The New Glenn program represents Blue Origin’s answer to heavy-lift launch demands, positioning the company alongside major players such as SpaceX. As satellite constellations grow in scale and ambition, reliable and cost-effective launch services have become a critical component of the global space economy.
The inclusion of commercial payloads like BlueBird 7 highlights the increasing collaboration between aerospace firms and telecommunications providers, signaling a future where space-based infrastructure plays a central role in everyday connectivity.
Looking Ahead
With its third mission, New Glenn continues to build momentum as a next-generation launch platform. The combination of reusable hardware, commercial partnerships, and advanced payload capabilities places this launch among the most closely watched developments in the 2026 spaceflight calendar.
For ongoing updates, mission tracking, and live coverage, audiences can follow Blue Origin across its digital platforms or visit its official website.
Source
Blue Origin Official Announcement – New Glenn Third Mission
Related External Links
- Learn More About Blue Origin’s New Glenn Rocket
- AST SpaceMobile – Space-Based Cellular Broadband Network
- Cape Canaveral Space Force Station Information
- NASA Overview of Low Earth Orbit (LEO) Operations
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Last Updated on April 17, 2026 by Daily News Staff
Earth Day is celebrated annually on April 22nd, and it serves as a reminder of the importance of taking care of our planet. It’s a day to reflect on our impact on the environment and to take action to create a better future for our planet.
The first Earth Day was celebrated in 1970, and it marked the beginning of the environmental movement. Since then, Earth Day has grown into an international event, with millions of people around the world participating in activities and events to raise awareness about environmental issues.
One of the main goals of Earth Day is to encourage people to take action to reduce their impact on the environment. This can include simple actions like recycling, conserving energy, and reducing waste. It can also involve more significant actions like advocating for environmental policies and supporting sustainable businesses.
Another important aspect of Earth Day is education. It’s a time to learn about environmental issues and to understand how our actions can impact the planet. Many schools and organizations use Earth Day as an opportunity to teach children about the importance of taking care of the environment.
This year’s Earth Day theme is “Restore Our Earth”, and it focuses on the idea that we can all play a role in restoring the planet’s ecosystems. This can include actions like planting trees, reducing plastic waste, and supporting sustainable agriculture.
Earth Day is an important reminder of the impact that we have on the environment and the importance of taking action to create a better future for our planet. By working together and taking small steps, we can make a big difference in protecting the planet and ensuring that it remains healthy and beautiful for generations to come.
Earth Day – April 22
https://nationaltoday.com/earth-day/
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