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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, known as pronuclear transfer, was designed to prevent the inheritance of devastating mitochondrial diseases passed down through the mother’s DNA. The early results are highly promising: all the babies are developing normally, and the disease-causing mutations are undetectable or present at levels too low to cause harm.
MONDAY, June 9, 2025 — Prompt treatment with a drug combo can effectively manage chronic kidney disease in people with type 2 diabetes, a new clinical trial shows. Patients prescribed the combination of finerenone and empagliflozin.
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FRIDAY, June 6, 2025 — A repurposed diabetes drug can be an effective tool against fatty liver disease, a new clinical trial has found. Dapagliflozin helped people reduce fat levels in their liver and avoid liver scarring that comes with the.
Related groups Xavier lab Over the past two decades, large genetic studies have linked tens of thousands of DNA variants to thousands of human traits and diseases. Yet, correcting the effects of those variants to treat disease has been hampered in part by the lack of precise molecular tools to do so.
Illinois engineers fused ultrafast imaging with smart algorithms to peek at living brain chemistry, turning routine MRIs into metabolic microscopes. The system distinguishes healthy regions, grades tumors, and forecasts MS flare-ups long before structural MRI can. Precision-medicine neurology just moved closer to reality.
11, 2025 — A newly approved implant appears to slow vision loss from a rare and previously untreatable eye disease, researchers report. MONDAY, Aug. The eye implant, called ENCELTO, gradually releases proteins that protect light-sensing nerve.
Artificial intelligence is now designing custom proteins in seconds—a process that once took years—paving the way for cures to diseases like cancer and antibiotic-resistant infections. Australian scientists have joined this biomedical frontier by creating bacteria-killing proteins with AI.
The landscape of genetic medicine is undergoing a profound transformation, driven by innovative approaches that challenge the traditional, disease-specific paradigms. My transition to biotech and rare diseases was deeply personal – my son was diagnosed with Duchenne muscular dystrophy in 2020. “My
This one-shot strategy could revolutionize how we fight not just HIV, but many infectious diseases. By combining two immune-boosting adjuvants alum and SMNP the vaccine lingers in lymph nodes for nearly a month, encouraging the body to produce a vast array of antibodies. And best of all, it's built on components already known to medicine.
This breakthrough holds major promise for studying neurological diseases like Alzheimer’s and Parkinson’s, creating more accurate models for drug testing, and eventually even enabling neuron replacement therapies.
Scientists at the University of Sydney have uncovered a malfunctioning version of the SOD1 protein that clumps inside brain cells and fuels Parkinson’s disease.
The findings hint at vast possibilities in treating diseases influenced by vitamin D, though long-term impacts remain uncertain. This opens the door to highly targeted cancer therapies—by either cutting off vitamin D supply to tumors or enhancing the gene’s activity to boost health.
Scientists create next generation of tools in battle against brain disease By Corie Lok May 21, 2025 Breadcrumb Home Scientists create next generation of tools in battle against brain disease The findings contained in eight studies could lead to targeted gene therapies for brain disorders. The tools are known as enhancer AAV vectors.
Phase 3 results revealed Monday led shares to surge and should yield an approval application in IgA nephropathy, a competitive corner of drug research, later this year.
The breakthrough science focused on replicating heart tissues, bringing research closer to generating functional, bioprinted organs, which would have broad applications in disease modelling, drug screening and regenerative medicine.
With its cutting-edge design, it might just revolutionize how and where we detect disease, pollutants, and more. This self-illuminating sensor uses a gold nanostructure to both generate and sense light, making it incredibly compact, ultra-sensitive, and perfect for rapid diagnostics or environmental testing.
Alzheimer's disease (AD) is a progressive age-related neurodegenerative brain disorder that destroys memory and other important mental functions. ABSTRACT Alzheimer's disease (AD) is a progressive chronic age-related neurodegenerative brain disorder characterized by the loss of memory and other cognitive functions.
Older adults who maintain curiosity and want to learn new things relevant to their interests may be able to offset or even prevent Alzheimer's disease. Psychologists shows one type of curiosity can increase well into old age, contradicting prior research.
The biotech is taking inspiration from cystic fibrosis treatment and applying a similar approach to developing "corrector" and "potentiator" medicines for the kidney disease.
Ai-Lin Chen, Zih-Jheng Lin, Hsiao-Yu Chang, and Tsung-Shing Andrew Wang Journal of the American Chemical Society , 2025 [link] Reactive carbonyl species (RCS) are important biomarkers of oxidative stress-related diseases because of their highly reactive electrophilic nature.
The findings demonstrate the potential of this technology to pave the way for future treatments for a wide range of conditions such as Alzheimer's disease, amyotrophic lateral sclerosis, brain cancer, and drug addiction.
Targeting GPCRs to fight inflammatory diseases GPCR-targeting drugs are well known therapies for a range of disease types, including cardio-metabolic, central nervous system and endocrinological disorders. It also holds potential for neuroinflammatory conditions such as certain types of migraine.
By Lucy Mutz November 4, 2024 Credit: Juliana Sohn Kasper Lage is managing director of the Novo Nordisk Foundation Center for Genomic Mechanisms of Disease. The overall goal is to translate genetic findings into biological mechanisms underlying disease that could be targeted with new medicines.
In an exciting breakthrough, researchers have identified cancer drugs that might reverse the effects of Alzheimer's disease in the brain. By analyzing gene expression in brain cells, they discovered that some FDA-approved cancer medications could reverse damage caused by Alzheimer's.
Those with high-risk genes even saw cognitive gains, hinting at real disease-modifying power. Ambroxol, long used for coughs in Europe, stabilized symptoms and brain-damage markers in Parkinson’s dementia patients over 12 months, whereas placebo patients worsened.
Scientists have discovered a direct cause-and-effect link between faulty mitochondria and the memory loss seen in neurodegenerative diseases. The findings not only shed light on the early drivers of brain cell degeneration but also open possibilities for slowing or even preventing diseases like Alzheimer’s.
Related news Imaging combined with genetic screening of cells enhances genomic discoveries Although outbreaks of Ebola virus are rare, the disease is severe and often fatal, with few treatment options. The study’s approach could also be used to examine other pathogens and emerging infectious diseases and look for new ways to treat them.
2025 , 147 , 25 , 21512–21525 [link] Targeted protein degradation (TPD) has emerged as a promising therapeutic strategy for treating various diseases. Xiaoqiang He, Shihan Zeng, Yalei Wen, Tao Yang, Chaoming Huang, Yifang Li, Zhang Zhang, Ke Ding, Tongzheng Liu, Yi Tan, and Zhengqiu Li J.
Their work focuses on creating ‘digital twin generators’ – AI-driven models that predict how a patients disease may progress over time. AI-powered digital twins A key component of Unlearns work is its focus on digital twin technology, which uses AI to create personalised models of disease progression for individual patients.
The interaction of 14-3-3 with Tau, characterized by different phospho-site driven binding modes, forms a valuable, disease-relevant, 14-3-3 multivalent model PPI to explore this selectivity issue.
THURSDAY, July 24, 2025 — Insulin delivered by nasal spray might be a potential treatment for Alzheimer’s disease, a new study says. An insulin nasal spray effectively reached key memory regions in the brains of a small group of older.
The deal gives Lilly a potential new treatment for heart disease, The Wall Street Journal reported. WEDNESDAY, June 18, 2025 — Drugmaker Eli Lilly plans to buy Verve Therapeutics, a gene-editing startup, for about $1 billion upfront.
The results come from a open-label, proof-of-concept, Phase 2 study (NCT04520451) and highlight rilzabrutinib’s potential as a disease-changing treatment option for a condition that currently has limited and non-specific treatment options and involves substantial patient suffering due to its chronic and progressive course.
Imagine being able to create an in vitro replica of a diseased organ to study the molecular mechanism underlying the illness. Now take a step further: envision testing drugs in these organoids to identify the ones that can treat disease safely and effectively without needing to run expensive clinical trials first.
Placebo arms, in particular, create ethical and logistical hurdles, especially in areas like rare disease and oncology. They are patient-specific outcome predictions, generated using disease-specific machine-learning models trained on large, longitudinal clinical datasets. Digital twins offer a way forward.
Food and Drug Administration (FDA) plays a pivotal role in fostering the development of treatments for rare diseases through its Orphan Products Grants Program. Each year, FDA selects a limited number of clinical trials to fund to help sponsors pursue development of medical products for rare diseases and advance their field.
integrated their GWAS findings with functional genomics data from relevant tissues, identifying 700 genes with high confidence of being involved in osteoarthritis, and eight biological processes key to the disease development, including circadian clock and glial cell functions. GWAS credible sets from Hatzikotoulas et al. GCST90566795 ).
The search for effective treatments for neurodegenerative diseases like Parkinson’s disease has long been hindered by the brain’s complexity and the absence of adequate models for drug discovery. “For diseases like Parkinson’s, it’s more than sufficient,” he explains.
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