Science
Scientists map part of a mouse's brain that's so complex it looks like a galaxy
Thanks to a mouse watching clips from “The Matrix,” scientists have created the largest functional map of a brain to date – a diagram of the wiring connecting 84,000 neurons as they fire off messages.
Using a piece of that mouse’s brain about the size of a poppy seed, the researchers identified those neurons and traced how they communicated via branch-like fibers through a surprising 500 million junctions called synapses.
The massive dataset, published Wednesday by the journal Nature, marks a step toward unraveling the mystery of how our brains work. The data, assembled in a 3D reconstruction colored to delineate different brain circuitry, is open to scientists worldwide for additional research – and for the simply curious to take a peek.
“It definitely inspires a sense of awe, just like looking at pictures of the galaxies,” said Forrest Collman of the Allen Institute for Brain Science in Seattle, one of the project’s leading researchers. “You get a sense of how complicated you are. We’re looking at one tiny part ... of a mouse’s brain and the beauty and complexity that you can see in these actual neurons and the hundreds of millions of connections between them.”
How we think, feel, see, talk and move are due to neurons, or nerve cells, in the brain – how they’re activated and send messages to each other. Scientists have long known those signals move from one neuron along fibers called axons and dendrites, using synapses to jump to the next neuron. But there’s less known about the networks of neurons that perform certain tasks and how disruptions of that wiring could play a role in Alzheimer's, autism or other disorders.
“You can make a thousand hypotheses about how brain cells might do their job but you can’t test those hypotheses unless you know perhaps the most fundamental thing – how are those cells wired together,” said Allen Institute scientist Clay Reid, who helped pioneer electron microscopy to study neural connections.
With the new project, a global team of more than 150 researchers mapped neural connections that Collman compares to tangled pieces of spaghetti winding through part of the mouse brain responsible for vision.
The first step: Show a mouse video snippets of sci-fi movies, sports, animation and nature.
A team at Baylor College of Medicine did just that, using a mouse engineered with a gene that makes its neurons glow when they’re active. The researchers used a laser-powered microscope to record how individual cells in the animal’s visual cortex lit up as they processed the images flashing by.
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Next, scientists at the Allen Institute analyzed that small piece of brain tissue, using a special tool to shave it into more than 25,000 layers, each far thinner than a human hair. With electron microscopes, they took nearly 100 million high-resolution images of those sections, illuminating those spaghetti-like fibers and painstakingly reassembling the data in 3D.
Finally, Princeton University scientists used artificial intelligence to trace all that wiring and “paint each of the individual wires a different color so that we can identify them individually,” Collman explained.
They estimated that microscopic wiring, if laid out, would measure more than 3 miles (5 kilometers). Importantly, matching up all that anatomy with the activity in the mouse's brain as it watched movies allowed researchers to trace how the circuitry worked.
The Princeton researchers also created digital 3D copies of the data that other scientists can use in developing new studies.
Could this kind of mapping help scientists eventually find treatments for brain diseases? The researchers call it a foundational step, like how the Human Genome Project that provided the first gene mapping eventually led to gene-based treatments. Mapping a full mouse brain is one next goal.
“The technologies developed by this project will give us our first chance to really identify some kind of abnormal pattern of connectivity that gives rise to a disorder,” another of the project's leading researchers, Princeton neuroscientist and computer scientist Sebastian Seung, said in a statement.
The work “marks a major leap forwards and offers an invaluable community resource for future discoveries,” wrote Harvard neuroscientists Mariela Petkova and Gregor Schuhknecht, who weren’t involved in the project.
The huge and publicly shared data “will help to unravel the complex neural networks underlying cognition and behavior,” they added.
The Machine Intelligence from Cortical Networks, or MICrONS, consortium was funded by the National Institutes of Health’s BRAIN Initiative and IARPA, the Intelligence Advanced Research Projects Activity.
19 days ago
Science, tradition combine to restore relics in Beijing
The work is highly technical, taking place in a setting that resembles a laboratory rather than a museum. A fragment of a glazed roof tile from Beijing’s Forbidden City undergoes analysis in a cutting-edge X-ray diffraction machine, which generates images that are then displayed on computer screens.
The fragment being examined has a darkened area on its surface, which restorers seek to identify. Their goal is to enhance the preservation of artifacts in the vast imperial palace, which served as the residence of China’s emperors and the centre of power for centuries.
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“We want to determine what the black substance is,” said Kang Baoqiang, one of the restorers at the site, now a museum drawing visitors from around the globe. “Whether it originates from atmospheric sediment or is the result of significant internal changes.”
A team of approximately 150 workers blends scientific analysis with traditional methods to clean, repair, and restore the museum’s collection of over 1.8 million relics.
The collection includes scroll paintings, calligraphy, bronzes, ceramics, and, somewhat unexpectedly, elaborate antique clocks presented to emperors by early European visitors.
In a room down the corridor from the X-ray facility, two restorers meticulously patch holes in a panel of patterned green silk featuring the Chinese character for “longevity,” carefully applying colour in a technique known as “inpainting.”
This piece is believed to have been a birthday gift for Empress Dowager Cixi, the influential figure behind the throne in the late 19th and early 20th centuries.
Much of the restoration work is painstaking and repetitive, often taking months to complete.
“I don’t have grand ambitions about protecting traditional cultural heritage, as some people say,” remarked Wang Nan, one of the restorers. “I simply find satisfaction in the sense of accomplishment when an antique piece is restored.”
Now a major tourist attraction in central Beijing, the Forbidden City was named by foreigners during imperial times because access was largely restricted. Officially, it is known as the Palace Museum.
During World War II, many of its treasures were swiftly removed to prevent them from falling into the hands of the invading Japanese army. Later, during the civil war that led to the Communist Party’s rise to power in 1949, the defeated Nationalists transported many of the most valuable items to Taiwan, where they are now housed in the National Palace Museum.
Since then, Beijing’s Palace Museum has rebuilt its collection.
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Restoration techniques have also progressed, noted Qu Feng, head of the museum’s Conservation Department, though traditional methods remain the foundation of their work.
“When we restore an antique, we safeguard the cultural values it embodies,” Qu said. “And that is our ultimate objective.”
1 month ago
European telescope reveals new images of distant galaxies
A European space telescope, launched to investigate the dark universe, has unveiled a wealth of new data on distant galaxies.
On Wednesday, the European Space Agency's Euclid observatory released images and other information, offering a glimpse of three cosmic regions that the mission will explore in greater detail. These observations aim to map the shapes and positions of galaxies billions of light years away, with a light year equating to nearly 6 trillion miles.
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Launched in 2023 from Florida, the observatory is working on creating a cosmic map to gather insights into the workings of our expanding universe and the roles of dark energy and dark matter—two mysterious forces that constitute the majority of the universe, yet remain poorly understood.
Over the course of six years, the mission aims to capture images of more than 1.5 billion galaxies.
NASA’s stranded astronauts finally head home after nine months in space
1 month ago
NASA's stranded astronauts greet their replacements at space station
Just over a day after launching, a SpaceX crew capsule arrived at the International Space Station on Sunday, bringing the replacements for NASA’s two stranded astronauts.
The four newcomers — from the U.S., Japan, and Russia — will spend the next few days getting acquainted with the station’s operations from Butch Wilmore and Suni Williams. Afterward, the two will board their own SpaceX capsule later this week to wrap up an unexpectedly extended mission that began last June.
What's Pi Day all about? Math, science, pies and more
Wilmore and Williams had anticipated being gone for only a week when they launched on Boeing’s first astronaut flight, but they marked the nine-month milestone earlier this month.
The Boeing Starliner capsule faced so many issues that NASA insisted it return empty, leaving its test pilots behind to await a SpaceX lift.
Their ride finally arrived in late September, but with a reduced crew of two and two vacant seats reserved for the return journey. Additional delays occurred when their replacements’ brand-new capsule required extensive battery repairs. An older capsule took its place, pushing their return back by a couple of weeks to mid-March.
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Weather permitting, the SpaceX capsule carrying Wilmore, Williams, and two other astronauts will undock from the space station no earlier than Wednesday and splash down off Florida's coast.
1 month ago
What's Pi Day all about? Math, science, pies and more
Math enthusiasts around the world, from college students to rocket scientists, celebrate Pi Day, which is March 14 or 3/14 — the first three digits of an infinite number with many practical uses.
Many people will mark the day with a slice of pie — sweet, savory or even pizza.
Simply put, pi is a mathematical constant that expresses the ratio of a circle’s circumference to its diameter. It figures into numerous formulas used in physics, astronomy, engineering and other fields, dating back thousands of years to ancient Egypt, Babylon and China.
Pi Day itself dates to 1988, when physicist Larry Shaw began celebrations at the Exploratorium science museum in San Francisco.
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The holiday didn’t really gain national recognition until two decades later. In 2009, Congress designated every March 14 to be the big day — in the hopes of spurring more interest in math and science. Fittingly enough, the day is also Albert Einstein’s birthday.
Here’s a little more about the holiday’s origin and how it’s celebrated.
What is pi?
Pi can calculate the circumference of a circle by measuring the diameter — the distance straight across the circle’s middle — and multiplying that by the 3.14-plus number.
It is considered a constant number and it is also infinite, meaning it is mathematically irrational. Long before computers, historic scientists such as Isaac Newton spent many hours calculating decimal places by hand. Today, using sophisticated computers, researchers have come up with trillions of digits for pi, but there is no end.
Why is it called pi?
It wasn’t given its name until 1706, when Welsh mathematician William Jones began using the Greek symbol for the number.
Why that letter? It’s the first Greek letter in the words “periphery” and “perimeter,” and pi is the ratio of a circle’s periphery — or circumference — to its diameter.
What are some practical uses?
The number is key to accurately pointing an antenna toward a satellite. It helps figure out everything from the size of a massive cylinder needed in refinery equipment to the size of paper rolls used in printers.
Pi is also useful in determining the necessary scale of a tank that serves heating and air conditioning systems in buildings of various sizes.
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NASA uses pi on a daily basis. It’s key to calculating orbits, the positions of planets and other celestial bodies, elements of rocket propulsion, spacecraft communication and even the correct deployment of parachutes when a vehicle splashes down on Earth or lands on Mars.
Using just nine digits of pi, scientists can calculate the Earth’s circumference so accurately it errs by only about a quarter of an inch (0.6 centimeters) for every 25,000 miles (about 40,000 kilometers).
It's not just math, though
Every year the San Francisco museum that coined the holiday organizes events, including a parade around a circular plaque, called the Pi Shrine, 3.14 times — and then, of course, festivities with lots of pie.
Across the country, many events now take place on college campuses. At Florida Atlantic University in Jupiter, Florida, students in the Jupiter Mathematics Club are hosting a Pi Day Extravaganza with a raffle to hit math professors with a pie, along with a contest for who can memorize the most digits of pi.
Restaurants across the country, including some pizza chains, also offer $3.14 specials on Pi Day.
NASA holds its annual Pi Day Challenge online, offering plenty of games and puzzles, some directly from the space agency’s own playbook, such as calculating the orbit of an asteroid or the distance a moon rover would need to travel each day to survey a certain lunar area.
What about Einstein?
Possibly the world’s best-known scientist, Einstein was born on March 14, 1879, in Germany. The infinite number of pi was used in many of his breakthrough theories and now Pi Day gives the world another reason to celebrate his achievements.
In a bit of math symmetry, famed physicist Stephen Hawking died on March 14, 2018, at age 76. Still, pi is not a perfect number. He once had this to say:
“One of the basic rules of the universe is that nothing is perfect. Perfection simply doesn’t exist. Without imperfection, neither you nor I would exist.”
1 month ago
Scientists detect chirping cosmic waves in an unexpected part of space
Scientists have detected cosmic waves that sound like birds chirping in an unexpected place.
These bursts of plasma, called chorus waves, ripple at the same frequency as human hearing. When converted to audio signals, their sharp notes mimic high-pitched bird calls.
Researchers have captured such sounds in space before, but now they have sensed the chirping waves from much farther away: over 62,000 miles (100,000 kilometers) from Earth, where they've never been measured before.
“That opens up a lot of new questions about the physics that could be possible in this area,” said Allison Jaynes, a space physicist at the University of Iowa who was not involved with the work.
Scientists still aren’t sure how the perturbations happen, but they think Earth’s magnetic field may have something to do with it.
The chorus has been picked up on radio antennas for decades, including receivers at an Antarctica research station in the 1960s. And twin spacecraft — NASA's Van Allen Probes — heard the chirps from Earth's radiation belts at a closer distance than the newest detection.
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The latest notes were picked up by NASA's Magnetospheric Multiscale satellites, launched in 2015 to explore the Earth and sun's magnetic fields. The new research was published Wednesday in the journal Nature.
Chorus waves have also been spotted near other planets including Jupiter and Saturn. They can even produce high-energy electrons capable of scrambling satellite communications.
“They are one of the strongest and most significant waves in space,” said study author Chengming Liu from Beihang University in an email.
The newfound chorus waves were detected in a region where Earth's magnetic field is stretched out, which scientists didn't expect. That raises fresh questions about how these chirping waves form.
“It's very captivating, very compelling,” Jaynes said. “We definitely need to find more of these events.”
3 months ago
How old are Saturn's rings? Study suggests they could be 4.5 billion years old
New research suggests that Saturn’s rings may be older than they look — possibly as old as the planet.
Instead of being a youthful 400 million years old as commonly thought, the icy, shimmering rings could be around 4.5 billion years old just like Saturn, a Japanese-led team reported Monday.
The scientists surmise Saturn’s rings may be pristine not because they are young but because they are dirt-resistant.
Saturn's rings are long thought to be between 100 million and 400 million years old based on more than a decade of observations by NASA's Cassini spacecraft before its demise in 2017.
Images by Cassini showed no evidence of any darkening of the rings by impacting micrometeoroids — space rock particles smaller than a grain of sand — prompting scientists to conclude the rings formed long after the planet.
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Through computer modeling, the Institute of Science Tokyo's Ryuki Hyodo and his team demonstrated that micrometeoroids vaporize once slamming into the rings, with little if any dark and dirty residue left behind. They found that the resulting charged particles get sucked toward Saturn or out into space, keeping the rings spotless and challenging the baby rings theory. Their results appear in the journal Nature Geoscience.
Hyodo said it's possible Saturn's rings could be somewhere between the two extreme ages — around the halfway mark of 2.25 billion years old. But the solar system was much more chaotic during its formative years with large planetary-type objects migrating and interacting all over the place, just the sort of scenario that would be conducive to producing Saturn's rings.
“Considering the solar system’s evolutionary history, it’s more likely that the rings formed closer to" Saturn's earliest times, he said in an email.
4 months ago
Need more women in science for a sustainable future: PM Hasina tells an int'l event
Prime Minister Sheikh Hasina on Thursday said the world needs right policies and institutions to help young women choose a career in science and technology.
“We need more women and girls in science for a just, inclusive, and sustainable future. We must have the right policies and institutions for young women to choose a career in science and technology,” she said.
The prime minister said this in a video statement that was played in the 9th International Day of Women and Girls in Science Assembly at the United Nations Headquarters in New York.
She mentioned that it is important that women in science are promoted to leadership positions.
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“In Bangladesh, I personally commit to advancing the work of our women scientists through recognition and incentives,” she said.
The prime minister mentioned that the government is digitally empowering thousands of women and girls across the country.
“I feel delighted to see their vibrant presence in the digital marketplace. We offer dedicated training for young women to help them grow as IT freelancers. I wish to see our young people with disabilities transform their lives through digital inclusion,” she said.
Hasina said that the government is expanding technical and vocational education for women to help them prepare for the future of work.
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“We have made it mandatory for all high school graduates to get an education in science and ICT,” she said.
The premier said that in the past the number of female students in higher education, especially in science and technology, was not satisfactory.
However, she said, the participation of women in science education has improved significantly in recent years due to our concerted efforts.
She mentioned that in public universities of Bangladesh, about 40 percent of total students are female, while in private universities, their percentage is 30.
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“We make sure that women get preference in the research and innovation grants we offer. Our young girls need to be prepared to realise our vision of a ‘Smart Bangladesh’,” she added,
PM Hasina vowed to always remain devoted to women's and girls’ education in science and technology.
According to the United Nations a significant gender gap has persisted throughout the years at all levels of science, technology, engineering and mathematics (STEM) disciplines all over the world.
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Even though women have made tremendous progress towards increasing their participation in higher education, they are still under-represented in these fields.
It said that gender equality has always been a core issue for the United Nations. Gender equality and the empowerment of women and girls will make a crucial contribution not only to economic development of the world, but to progress across all the goals and targets of the 2030 Agenda for Sustainable Development, as well.
On 14 March 2011, the Commission on the Status of Women adopted a report at its fifty-fifth session, with agreed conclusions on access and participation of women and girls in education, training and science and technology, and for the promotion of women’s equal access to full employment and decent work.
On 20 December 2013, the General Assembly adopted a resolution on science, technology and innovation for development, in which it recognised that full and equal access to and participation in science, technology and innovation for women and girls of all ages is imperative for achieving gender equality and the empowerment of women and girls.
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1 year ago
ChatGPT ‘passed’ BCS exam, according to Science Bee’s experiment
Since it became publicly accessible in November last year, ChatGPT – an AI chatbot created by OpenAI Company – has dominated the discourse on the internet and social media. Based on the Generative Pre-Trained Transformer 3 or GPT-3 language paradigm, ChatGPT is capable of carrying on a conversation, responding to inquiries, producing stories, poems, and comics, as well as resolving challenging programming issues.
ChatGPT has also participated in and even passed numerous challenging examinations across the globe including the Wharton MBA Exam, the American Medical Licensing Exam, and the Law School Exam, as part of esperiment.
Although the chatbot recently failed the Indian UPSC (Union Public Service Commission) exam, which is the benchmark test for recruitment to higher civil services of the Government of India, Bangladeshi netizens wondered whether ChatGPT would be able to pass the BCS (Bangladesh Civil Service) exam or not.
Science Bee, one of the largest science-based education platforms for youths in the country, has recently revealed on its social media platforms that ChatGPT has “successfully passed” the BCS preliminary exam, scoring 130 out of 200 marks in total.
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Talking about the experiment with UNB, Science Bee Founder Mobin Sikder and Executive Member Metheela Farzana Melody shared how the team tested the chatbot for BCS exam, following a month of planning and preparation and seven days of frequent testing.
“First of all, we researched how to take the test to get the most realistic results,” Mobin told UNB. “Since ChatGPT is trained on a dataset available till September 2021, we decided to conduct the test on the questions of the latest BCS exam – 44th BCS, held in May 2022.”
“After selecting the exam, we collected the question papers and answers. Since the question paper is allowed to be taken away after the exam, securing it did not require much time. The answer sheet is, however, not published directly. So, we prepared the final answer sheet on our own, after multiple testing from various third-party sources,” team Science Bee explained.
Language barrier emerged as a headache during the experiment as BCS exam is conducted in Bangla language and the chatbot is trained in English. It had to be translated into English in order to keep the exam fair.
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In the 44th BCS, 1 mark was allotted for each question where the candidate got 1 mark for the correct answer, and 0.5 mark was deducted for each wrong answer. However, candidates had the option to skip or not answer any question; in that case, no marks were added or subtracted. The same mark distribution was provided to ChatGPT and at the beginning, it was informed about the MCQ exam and command through text prompt – and it became ready to take the exam.
However, there were some picture-based questions, according to team Science Bee. Since ChatGPT-3 is not multimodal, it cannot read or understand images; hence it was not possible to input those questions, so those were rejected. Besides, it was not possible to translate some questions related to Bangla language and literature into English as it would change the thematic description.
“The total number of such rejected questions was 22. As these are weaknesses of ChatGPT, invalid questions were treated as unanswered and no negative marking was done,” according to team Science Bee.
The remaining 178 questions were asked to ChatGPT with options, and it answered 142 questions correctly. 24 questions were answered incorrectly and while answering the remaining 12, the chatbot stated that the correct answer option was not found. That means the chatbot got 142 marks for as many correct answers, 12 marks were deducted for providing 24 wrong answers, and no marks were deducted or added for no answer. So, as per the 44th BCS exam questions, ChatGPT passed with a total of 130 marks.
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In the 44th BCS exam, a total of 3,50,716 candidates applied and of them, 2,76,760 candidates participated in the preliminary exam. Only 15,708 candidates passed the preliminary exam, according to reports.
“As there is no specific pass mark for BCS and the cut-off mark is not officially released, we were in touch with several candidates who appeared for the 44th BCS exam. According to the information given by them, the cut-off mark in general cadre was 125±. Since ChatGPT secured 130 marks in our test, it can be said that ChatGPT has successfully passed BCS preliminary exam,” team Science Bee told UNB.
Further explaining the performance of the chatbot, Science Bee said that according to the test, ChatGPT was able to answer the questions quite well. However, it was pretty weak in Bangla language and literature category where it answered only 5 out of 35 questions. On the other hand, it performed well in the categories of science, computer or English language and literature. It took a considerable amount of time to answer most of the questions in the mental skills or math categories correctly.
“Besides, many times there have been incidents like getting stuck in the middle of answering. In that case, we had to take the help of ‘Regenerate Response’ to proceed and move forward,” team Science Bee said.
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The questions for the exam were collected and translated by Metheela. Overall management of the test was conducted by Science Bee’s Content Production Head Annoy Debnath, and the final report was edited by Mobin and Sadia Binte Chowdhury.
“We did this test as part of an interesting experiment and will conduct further tests with other examinations when ChatGPT-4 will be available. The chatbot is learning consistently and becoming powerful every single day, and through this type of test, we want to convey a message to aspiring learners and students that we need to move one step ahead of ChatGPT with our learnings.”
“That means, we need to stop relying on memorising and copy-paste practices because ChatGPT can do it and will be doing it even better with future versions, and also there are other AI projects in the pipeline such as Google’s Bard. It can be a great assistant and companion to humankind, and it will not replace anyone if we can continue to improve our learning. That is the motto of our research, aligned with our motto and tagline ‘learn like never before’. We want people to understand the importance of learning and be skilled in order to make AI useful,” Mobin and team Science Bee told UNB.
(Details of the test can be found on Science Bee's Facebook page and website.)
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2 years ago
Promising gene therapy delivers treatment directly to brain
When Rylae-Ann Poulin was a year old, she didn’t crawl or babble like other kids her age. A rare genetic disorder kept her from even lifting her head. Her parents took turns holding her upright at night just so she could breathe comfortably and sleep.
Then, months later. doctors delivered gene therapy directly to her brain.
Now the 4-year-old is walking, running, swimming, reading and riding horses — “just doing so many amazing things that doctors once said were impossible,” said her mother, Judy Wei.
Rylae-Ann, who lives with her family in Bangkok, was among the first to benefit from a new way of delivering gene therapy — attacking diseases inside the brain — that experts believe holds great promise for treating a host of brain disorders.
Her treatment recently became the first brain-delivered gene therapy after its approval in Europe and the United Kingdom for AADC deficiency, a disorder that interferes with the way cells in the nervous system communicate. New Jersey drugmaker PTC Therapeutics plans to seek U.S. approval this year.
Meanwhile, about 30 U.S. studies testing gene therapy to the brain for various disorders are ongoing, according to the National Institutes of Health. One, led by Dr. Krystof Bankiewicz at Ohio State University, also targets AADC deficiency. Others test treatments for disorders such as Alzheimer’s, Parkinson’s and Huntington’s.
Challenges remain, especially with diseases caused by more than a single gene. But scientists say the evidence supporting this approach is mounting — opening a new frontier in the fight against disorders afflicting our most complex and mysterious organ.
“There’s a lot of exciting times ahead of us,” said Bankiewicz, a neurosurgeon. “We’re seeing some breakthroughs.”
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The most dramatic of those breakthroughs involve Rylae-Ann’s disease, which is caused by mutations in a gene needed for an enzyme that helps make neurotransmitters like dopamine and serotonin, the body’s chemical messengers. The one-time treatment delivers a working version of the gene.
At around 3 months old, Rylae-Ann began having spells her parents thought were seizures — her eyes would roll back and her muscles would tense. Fluid sometimes got into her lungs after feedings, sending her to the emergency room. Doctors thought she might have epilepsy or cerebral palsy.
Around that time, Wei's brother sent her a Facebook post about a child in Taiwan with AADC deficiency. The extremely rare disorder afflicts about 135 children worldwide, many in that country. Wei, who was born in Taiwan, and her husband, Richard Poulin III, sought out a doctor there who correctly diagnosed Rylae-Ann. They learned she could qualify for a gene therapy clinical trial in Taiwan.
Though they were nervous about the prospect of brain surgery, they realized she likely wouldn’t live past 4 years old without it.
Rylae-Ann had the treatment at 18 months old on November 13, 2019 — which her parents have dubbed her “reborn day.” Doctors delivered it during minimally invasive surgery, with a thin tube through a hole in the skull. A harmless virus carried in a functioning version of the gene.
“It gets put into the brain cells and then the brain cells make the (neurotransmitter) dopamine,” said Stuart Peltz, CEO of PTC Therapeutics.
Company officials said all patients in their clinical trials showed motor and cognitive improvements. Some of them, Peltz said, could eventually stand and walk, and continue getting better over time.
Bankiewicz said all 40 or so patients in his team’s NIH-funded study also saw significant improvements. His surgical approach is more involved and delivers the treatment to a different part of the brain. It targets relevant circuits in the brain, Bankiewicz said, like planting seeds that cause ivy to sprout and spread.
“It’s really amazing work,” said Jill Morris, a program director with the National Institute of Neurological Disorders and Stroke, which helped pay for the research. “And he has seen a lot of consistency between patients.”
One is 8-year-old Rian Rodriguez-Pena, who lives with her family near Toronto. Rian got gene therapy in 2019, shortly before her 5th birthday. Two months later, she held her head up for the first time. She soon started using her hands and reaching for hugs. Seven months after surgery, she sat up on her own.
“When the world was crumbling around us with COVID, we were at our house celebrating like it was the biggest party of our lives because Rian was just crushing so many milestones that were impossible for so long,” said her mom, Shillann Rodriguez-Pena. “It’s a completely different life now.”
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Scientists say there are challenges to overcome before this approach becomes widespread for more common brain diseases.
For example, the timing of treatment is an issue. Generally, earlier in life is better because diseases can cause a cascade of problems over the years. Also, disorders with more complex causes — like Alzheimer's — are tougher to treat with gene therapy.
“When you’re correcting one gene, you know exactly where the target is,” said Morris.
Ryan Gilbert, a biomedical engineer at New York's Rensselaer Polytechnic Institute, said there can also be issues with the gene-carrying virus, which can potentially insert genetic information in an indiscriminate way. Gilbert and other researchers are working on other delivery methods, such as messenger RNA – the technology used in many COVID-19 vaccines – to deliver a genetic payload to the nucleus of cells.
Scientists are also exploring ways to deliver gene therapy to the brain without the dangers of brain surgery. But that requires getting around the blood-brain barrier, an inherent roadblock designed to keep viruses and other germs that may be circulating in the bloodstream out of the brain.
A more practical hurdle is cost. The price of gene therapies, borne mostly by insurers and governments, can run into the millions. The one-time PTC therapy, called Upstaza, costs more than $3 million in Europe, for example.
But drugmakers say they are committed to ensuring people get the treatments they need. And researchers are confident they can overcome the remaining scientific obstacles to this approach.
“So I would say gene therapy can be leveraged for many sorts of brain diseases and disorders,” Gilbert said. "In the future, you’re going to see more technology doing these kinds of things.”
The families of Rylae-Ann and Rian said they hope other families dealing with devastating genetic diseases will someday get to see the transformations they’ve seen. Both girls are continuing to improve. Rian is playing, eating all sorts of foods, learning to walk and working on language. Rylae-Ann is in preschool, has started a ballet class, and is reading at a kindergarten level.
When her dad picks her up, “she runs to me ... just gives me a hug and says, ‘I love you, Daddy.’ he said. “It’s like it’s a normal day, and that’s all we ever wanted as parents.”
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The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP is solely responsible for all content.
2 years ago