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Diseases and Conditions

“A New Era of Precision Medicine: Infant with Rare Disease Receives Groundbreaking Personalized Gene Therapy Treatment”

A research team has developed and safely delivered a personalized gene editing therapy to treat an infant with a life-threatening, incurable genetic disease. The infant, who was diagnosed with the rare condition carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after birth, has responded positively to the treatment. The process, from diagnosis to treatment, took only six months and marks the first time the technology has been successfully deployed to treat a human patient. The technology used in this study was developed using a platform that could be tweaked to treat a wide range of genetic disorders and opens the possibility of creating personalized treatments in other parts of the body.

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A groundbreaking achievement in the field of medicine has been made possible by a research team supported by the National Institutes of Health (NIH). For the first time, a personalized gene editing therapy has been safely delivered to an infant with a life-threatening, incurable genetic disease. The technology used in this study was developed using a platform that could be tweaked to treat a wide range of genetic disorders.

The infant, who was diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency shortly after birth, has responded positively to the treatment. This condition is characterized by an inability to fully break down byproducts from protein metabolism in the liver, causing ammonia to build up to toxic levels in the body. It can cause severe damage to the brain and liver.

The process, from diagnosis to treatment, took only six months. The technology used was developed using a gene-editing platform called CRISPR. Researchers at the Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn) corrected a specific gene mutation in the baby’s liver cells that led to the disorder.

This is the first known case of a personalized CRISPR-based medicine administered to a single patient and was carefully designed to target non-reproductive cells so changes would only affect the patient. The research team saw signs that the therapy was effective almost from the start, with the infant beginning to take in more protein in their diet, and the care team could reduce the medicine needed to keep ammonia levels low in the body.

The scientists announced their work at the American Society of Gene & Cell Therapy Meeting on May 15th and described the study in The New England Journal of Medicine. Funding for this project was provided by the NIH Common Fund Somatic Cell Genome Editing program grants, U01TR005355, U19NS132301, U19NS132303, DP2CA281401, and National Heart, Lung, and Blood Institute grants R35HL145203 and P01HL142494.

In-kind contributions for the study were made by Acuitas Therapeutics, Integrated DNA Technologies, Aldevron, and Danaher Corporation. Additional funding was provided by the CHOP Research Institute’s Gene Therapy for Inherited Metabolic Disorders Frontier Program. The researchers are cautiously optimistic about the baby’s progress, but much work remains to be done.

As Dr. Joni L. Rutter, director of NIH’s National Center for Advancing Translational Sciences (NCATS), noted, “This platform promises a new era of precision medicine for hundreds of rare diseases, bringing life-changing therapies to patients when timing matters most: Early, fast, and tailored to the individual.”

Cholesterol

A Rainbow on Your Plate: How a Diverse Diet of Flavonoids Can Add Years to Your Life

New research has found that those who consume a diverse range of foods rich in flavonoids, such as tea, berries, dark chocolate, and apples, could lower their risk of developing serious health conditions and have the potential to live longer.

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A groundbreaking study has revealed that consuming a diverse range of foods rich in flavonoids, such as tea, berries, dark chocolate, and apples, can lower the risk of developing serious health conditions and potentially lead to a longer lifespan. The research, conducted by a team of scientists from Queen’s University Belfast, Edith Cowan University Perth, and the Medical University of Vienna, tracked over 120,000 participants aged 40-70 years old for more than a decade.

Flavonoids are powerful compounds found in plant-based foods like tea, blueberries, strawberries, oranges, apples, grapes, and even red wine and dark chocolate. The study’s findings show that increasing the diversity of flavonoids within your diet can help prevent conditions such as type 2 diabetes, cardiovascular disease (CVD), cancer, and neurological diseases.

The research team led by Dr. Benjamin Parmenter, a Research Fellow at ECU, discovered that consuming around 500 mg of flavonoids per day was associated with a 16% lower risk of all-cause mortality, as well as a 10% lower risk of CVD, type 2 diabetes, and respiratory disease. That’s roughly the amount found in two cups of tea.

However, the study revealed that those who consumed the widest diversity of flavonoids had an even lower risk of these diseases, even when consuming the same total amount. For example, instead of just drinking tea, it’s better to eat a range of flavonoid-rich foods to make up your intake, as different flavonoids come from different foods.

The study’s co-lead author, Professor Aedín Cassidy from Queen’s University Belfast, emphasized that higher intakes of dietary flavonoids can reduce the risk of developing heart disease, type 2 diabetes, and neurological conditions like Parkinson’s. The researchers also noted that different flavonoids work in different ways, some improving blood pressure, others helping with cholesterol levels and decreasing inflammation.

The findings are significant as they suggest that consuming a higher quantity and wider diversity of flavonoids has the potential to lead to a greater reduction in ill health than just relying on a single source. The study’s results also align with popular claims that eating colourful foods is invaluable for maintaining good health.

As the first-ever dietary guidelines for flavonoids recommend increasing consumption to maintain health, this study provides inaugural evidence that we may also need to advise increasing diversity of intake of these compounds for optimal benefits. The results provide a clear public health message, suggesting that simple and achievable dietary swaps, such as drinking more tea and eating more berries and apples for example, can help increase the variety and intake of flavonoid-rich foods, and potentially improve health in the long-term.

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Alzheimer's

Epilepsy Strikes with Surprising Frequency in Frontotemporal Dementia Patients

According to a recent study, in patients with frontotemporal dementia (FTD), epileptic seizures are significantly more common than previously known. The discovery deepens understanding of the symptoms of this memory disorder and emphasises the importance of taking epileptic seizures into account in the treatment and monitoring of patients.

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Epileptic seizures are more common in patients with frontotemporal dementia (FTD) than previously known, according to a recent study. This discovery sheds new light on the symptoms of this memory disorder and emphasizes the importance of considering epileptic seizures in treatment and monitoring patients.

The research project, led by Neurocenter Finland, analyzed data from 12,490 medical records at the University Hospitals of Kuopio and Oulu between 2010-2021. The study identified 245 patients with FTD and found that epilepsy was significantly more common among them than those with Alzheimer’s disease or healthy controls.

“Our results show that epilepsy is considerably more common among those with FTD than those with Alzheimer’s disease or in healthy controls,” says Doctoral Researcher Annemari Kilpeläinen, the first author of the research article and a medical specialist in neurology. “It is noteworthy that epilepsy occurred in some patients with FTD already ten years before their dementia diagnosis, and it was more common in all the examined stages of the disease than previous international studies have reported.”

The prevalence of epilepsy increased over time in patients with FTD, reaching approximately 11% five years after the diagnosis. In addition to diagnosing epilepsy, medications used for epilepsy were more common among patients with FTD, further strengthening the reliability of the results.

Diagnosing epilepsy in patients with FTD can be challenging due to the resemblance between the symptoms of the disease and epileptic seizures. However, untreated epilepsy can significantly worsen patients’ condition. Identifying epilepsy is essential because its treatment can improve patients’ functional capacity and quality of life.

“Knowledge about the association between epilepsy and FTD raises new research questions: do these diseases share some pathophysiological mechanisms and could some FTD symptoms be caused by alterations in the specific electrical systems of the brain?” asks Associate Professor Eino Solje, the principal investigator of the project.

The recently published study is part of an extensive project that combines real-life patient data with different kinds of unique registers. The project involves a strong cooperation between the University of Oulu and the University of Eastern Finland as well as different fields of science, including between researchers in medicine and law.

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Alzheimer's

Breaking New Ground: Immune System Discovery Offers Potential Solution to Alzheimer’s

A new way of thinking about Alzheimer’s disease has yielded a discovery that could be the key to stopping the cognitive decline seen in Alzheimer’s and other neurodegenerative diseases, including ALS and Parkinson’s.

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Breaking New Ground: Immune System Discovery Offers Potential Solution to Alzheimer’s

A groundbreaking study has shed new light on the relationship between the immune system and Alzheimer’s disease. Researchers at the University of Virginia School of Medicine have discovered that an immune molecule called STING plays a crucial role in driving the formation of amyloid plaques and tau tangles, hallmarks of Alzheimer’s.

The study found that blocking STING activity in lab mice protected them from mental decline, suggesting a promising new target for developing treatments. This breakthrough has far-reaching implications for understanding and treating not only Alzheimer’s but also other neurodegenerative diseases like Parkinson’s disease, amyotrophic lateral sclerosis (ALS), and dementia.

“The findings demonstrate that the DNA damage that naturally accumulates during aging triggers STING-mediated brain inflammation and neuronal damage in Alzheimer’s disease,” said researcher John Lukens, PhD. “These results help to explain why aging is associated with increased Alzheimer’s risk and uncover a novel pathway to target in the treatment of neurodegenerative diseases.”

The study, published in Alzheimer’s & Dementia: The Journal of the Alzheimer’s Association, involved a team of researchers from UVA’s Department of Neuroscience and Center for Brain Immunology and Glia (BIG Center). They found that removing STING dampened microglial activation around amyloid plaques, protected nearby neurons from damage, and improved memory function in Alzheimer’s model mice.

The discovery of STING as a key player in the development of neurodegenerative diseases opens new doors for research into potential treatments. While much more work is needed to translate these findings into effective therapies, this breakthrough has sparked hope among researchers and patients alike.

“Our hope is that this work moves us close to finding safer and more effective ways to protect the aging brain,” said Lukens. “Shedding light on how STING contributes to that damage may help us target similar molecules and ultimately develop effective disease-modifying treatments.”

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