mitochondrial DNA disease treatment breakthrough

Science Triumphs: Eight Babies Born Free of Mitochondrial Disorders via Gene Therapy

Landmark Gene Therapy in Britain Produces Healthy Babies

Researchers revealed on Wednesday that eight healthy infants have been born in Britain through an experimental method involving DNA from three individuals, designed to prevent mothers from transmitting rare, serious illnesses.

Understanding Mitochondrial DNA and Its Impact on Health

Most of our genetic code is located in the cell's nucleus—passed down from both parents and fundamental to who we are. Yet, some DNA is also housed in mitochondria, structures outside the nucleus. Harmful mutations in this mitochondrial DNA can cause a spectrum of serious conditions in children, including organ failure and life-threatening complications.

Screening and the Need for Alternative Reproductive Techniques

Screening during the in vitro fertilization process generally reveals the presence of such mutations. However, in uncommon instances, the results may be inconclusive.

Three-Person IVF: The Groundbreaking Mitochondrial Replacement Technique

How the  Mitochondrial Replacement Technique Works

Scientists have devised a technique to sidestep the issue by employing healthy mitochondria from a donor egg. In 2023, they confirmed the birth of the first babies conceived through this method, which involves transferring the mother's genetic material into a donor egg or embryo containing healthy mitochondria but stripped of its core DNA.

Dr. Zev Williams, director of the Columbia University Fertility Centre, hailed the study as "a significant milestone." Although not involved in the research, he remarked: "Broadening reproductive choices will enable more couples to embark on safe and healthy pregnancies."

Global Perspective and Legal Status

Legal Approval in the UK and Australia

This technique results in an embryo containing genetic material from three individuals—the mother's egg, the father's sperm and the donor's mitochondria. It was legalized in the UK following a 2016 change in legislation. Australia has also approved its use, although it remains prohibited in many other nations, including the United States.

Study Outcomes and Expert Reactions

Research Publication and Results

Specialists from Newcastle University and Monash University in Australia have detailed in the New England Journal of Medicine that they applied the novel technique to fertilized embryos from 22 patients, resulting in the birth of eight babies unaffected by mitochondrial disorders. One woman remains pregnant.

Expert Observations and Precautions

One of the eight babies exhibited marginally elevated levels of abnormal mitochondria, noted Professor Robin Lovell-Badge, a developmental genetics and stem cell expert at the Francis Crick Institute, who was not directly involved in the study. While the level is not deemed sufficient to induce disease, he advised that the child should be monitored as they grow.

Clinical Potential and Selective Application

Dr. Andy Greenfield, a specialist in reproductive health at the University of Oxford, described the achievement as "a triumph of scientific innovation." He further explained that the mitochondrial exchange method would be reserved for a select group of women, particularly those for whom other methods, such as early-stage embryo testing, have proven ineffective.

Genetic Implications and Ethical Debates

Donor DNA and Trait Influence

According to Lovell-Badge, the donor's DNA contribution is minimal and insufficient to influence the child's traits. He clarified that less than one percent of the genetic material in a baby born through this technique originates from the donor egg.

Expert Comparison with Other Treatments

"As it happens, a bone marrow transplant introduces significantly more donor DNA than this technique does," he explained.

Approval and Oversight in the UK

In Britain, all couples hoping to have a child via mitochondrial donation must receive approval from the national fertility watchdog. To date, 35 individuals have been granted permission.

Global Regulatory Landscape and Ethical Considerations

Restrictions in the United States

Some critics have voiced apprehensions in the past, cautioning that the long-term effects of such innovative procedures on future generations remain unknown.

"At present, pronuclear transfer is not authorized for clinical applications in the United States, primarily due to regulations concerning heritable alterations to embryos," noted Williams of Columbia via email. "Whether this position will shift remains to be seen and will hinge upon ongoing debates in science, ethics and policy."

US Legislative Barriers

Over the past decade, funding bills passed by Congress have routinely contained language that bars the Food and Drug Administration from considering any clinical research proposals involving intentional genetic modifications to human embryos that could be passed down to future generations.

Real-Life Stories and Hope for Families

A Mother's Pain and Advocacy

In nations where the procedure is permitted, supporters argue it may offer a valuable option for certain families.

Liz Curtis, whose daughter Lily succumbed to a mitochondrial disorder in 2006, now supports other families facing similar challenges. She described the heartbreak of being told there was no treatment and that her eight-month-old's death was unavoidable.

She explained that the diagnosis "Shattered our world completely and no one could truly explain what it was or how it would affect Lily." Curtis went on to establish the Lily Foundation, named after her daughter, to raise awareness and fund research, including recent studies at Newcastle University.

A Message of Hope

"It's absolutely thrilling news for families who've had very little hope," said Curtis.

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adult hippocampal neurogenesis study

Human Brains Keep Growing New Neurons to Age 78, Karolinska Study Finds

Groundbreaking Study from Karolinska Institutet

A study from Sweden's Karolinska Institutet, published in Science, reveals that neuron formation in the hippocamus persists into late adulthood-offering critical insight into the enduring adaptability of the human brain.

Historical Insight into Neurogenesis Research

The Role of the Hippocampus in Brain Function

the hippocampus, a region of the brain central to learning, memory and emotional regulation, has long intrigued scientists.

The 2013 Landmark Study

In 2013, Jonas Frisén's group at Karolinska Institutet published a landmark study demonstrating that new neurons can form in the adult human hippocampus. They achieved this by measuring carbon-14 levels in DNA extracted from brain tissue, allowing them to estimate the age of the cells.

Determining the Cells of Origin

Nevertheless, the degree and importance of adult neurogenesis remain subjects of scientific debate. Conclusive evidence has yet to confirm whether neural progenitor cells-the precursors to new neurons-exist and divide in adult humans.

"We have now succeeded in identifying the cells of origin, confirming that neuron formation continues in the adult hippocampus," says Professor Jonas Frisén, who led the study at Karolinska Institutet's Department of Cell and Molecular Biology.

From Birth Through to the Age of 78

In their latest investigation, the team harnessed an array of advanced techniques to study brain tissue from donors aged between birth and 78, collected from international biobanks.

Techniques and Tools Used

Using single-nucleus RNA sequencing to profile gene activity within individual nuclei, alongside flow cytometry to assess cellular characteristics, they then applied machine-learning tools to chart every stage of neuronal development-from stem cells to dividing immature neurons.

Spatial Gene Mapping with RNAscope and Xenium

To pinpoint the cell's whereabouts, the researchers employed RNAscope and Xenium-two techniques that reveal spatial patterns of gene activity. Both confirmed that the newly generated cells reside within the dentate gyrus of the hippocampus, a region crucial for memory formation, learning and cognitive flexibility.

Prospects for Novel Therapies

Results indicate that the precursors to adult neurons in human are broadly comparable to those in mice, pigs and monkeys, albeit with some variation in gene expression. Additionally, individual differences were marked: some adults possessed numerous progenitor cells, others scarcely any.

"This provides a vital piece of the puzzle in understanding the working of the human brain and how it changes over a lifetime," explains Frisén. "Our findings may also inform the development of regenerative therapies aimed at promoting neurogenesis in psychiatric and neurodegenerative conditions."

Collaborative Effort and Institutional Involvement

The study was carried out in close collaboration with Ionut Dumitru, Marta Paterlini and fellow researchers at Karolinska Institutet, alongside colleagues from Chalmers University of Technology in Sweden.

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brain organoid platform mild blast TBI research

Brain Organoid Platform Aims to Decode Mild Blast Traumatic Brain Injury in Military personnel

Traumatic Brain Injury: A Persistent Challenge for Military personnel

Traumatic brain injuries have remained a persistent issue among military personnel, with the Department of Defence reporting close to 516.000 cases globally between 2000 and 2024.

Johns Hopkins Launches POSITRONIC to Study mbTBI

A research team from Johns Hopkins Applied Physics Laboratory (APL) in Laurel, Maryland, together with the Johns Hopkins Bloomberg School of Public Health, is developing a next-generation brain-organoid platform to tackle this challenge. Their study—Platform to Optimally Study Injury and TRauma On Neural Integrity and Circuitry (POSITRONIC), published in Frontiers in Bioengineering and Biotechnology—outlines the core principles of platforms designed for investigating low-level blast exposure.

Understanding Low-Level Blast Exposure

"The cumulative impact of low-level blast exposure remains poorly understood, largely due to our limited capacity to detect subtle effects on the human body—effects that may appear immediately but unfold gradually over time," said Katy Carneal, Assistant Programme Manager for Biological and Chemical Sciences at APL.

The Hidden Risk of Repeated Exposure

Low-level blasts produce pressure waves that travel through the skull and interact with brain tissue: repeated exposure can result in mild blast-induced traumatic brain injury (mbTBI). Military and low enforcement personnel may be exposed to over 100 such blasts during certain training exercises—and considerably more over the course of their careers.

Developing the POSITRONIC Prototype Platform

"Our aim is to create a prototype platform that will enable a deeper understanding of mbTBI caused by repeated low-level blasts, using advances in brain organoid technology and non-invasive optical imaging," said Eyal Bar-Kochba, Chief Scientist at APL's Research and Exploratory Development Department (REDD) and lead investigator for POSITRONIC. "We hope this work will contribute to the development of preventative strategies, as well as improved diagnostic and treatment approaches."

Future-Ready Technologies to Study Brain Trauma

Limitations of Traditional TBI Models

Researchers have traditionally employed in vivo models—studies conducted on live animals—and in vitro models, involving cultured cells in laboratory settings, to investigate traumatic brain injuries. Yet, applying these findings to human cases has proved difficult due to the limited relevance of such models to human biology.

Brain Organoids: A Transformative in Vitro Tool

Enter brain organoids—an emerging in vitro model based on human cells. One of their chief advantages lies in their capacity to replicate complex neural networks and cellular dynamics.

Johns Hopkins Team Leads the Charge

Neurotoxicologists Thomas Hartung and Lena Smirnova, of the Bloomberg School, were  instrumental in advancing organoid platforms for trauma research. The POSITRONIC team is leading efforts to apply these brain organoids in studying repeated low-level blast exposures.

Simulating Blasts with Precision

"This highlights the flexibility of organoids as a viable alternative to animal models, offering a platform for exploring yet another complex condition," said Smirnova, Assistant Professor at the Bloomberg School.

Cultivating and Testing Brain Organoids Under Blast Pressure

Once cultivated, the brain organoids is linked to a pressure-generation system that allows researchers to simulate repeated low-level blast exposure, mirroring the pressure commonly encountered by service personnel during training exercises.

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