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Archive for the ‘genetics’ category: Page 5

Jan 12, 2024

Newly discovered Genetic Mutation Protects against Parkinson’s disease and offers hope for New Therapies

Posted by in categories: biotech/medical, genetics

A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease and offers a new direction for exploring potential treatments, according to a new USC Leonard Davis School of Gerontology study.

The variant, located in a mitochondrial microprotein dubbed SHLP2, was found to be highly protective against Parkinson’s disease; individuals with this mutation are half as likely to develop the disease as those who do not carry it. The variant form of the protein is relatively rare and is found primarily in people of European descent.

The findings appear in the journal Molecular Psychiatry.

Jan 12, 2024

Curing Disease With Genetics And AI

Posted by in categories: biotech/medical, blockchains, genetics, robotics/AI

Manolis Kellis, an accomplished Computer Science Professor at MIT and member of the Broad Institute, is a trailblazer in computational biology. Renowned for leading the MIT Computational Biology Group, his impactful research spans disease genetics, epigenomics, and gene circuitry. With numerous cited publications and leadership in transformative genomics projects, Kellis has garnered prestigious accolades, including the PECASE and Sloan Fellowship, shaping the field with his international perspective from Greece and France to the US.

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Jan 11, 2024

Scientists Discover Genetic Mutation That Seems to Protect Against Parkinson’s

Posted by in categories: biotech/medical, genetics, health

We don’t have a cure for Parkinson’s disease yet, but a recently discovered mutation in mitochondrial DNA that seems to protect the body against the condition could one day point the way to one. Discovered in a small protein called SHLP2, the genetic variant is relatively rare – found in just 1 percent of Europeans. Yet an analysis of the health records of 16,167 people led by researchers from the University of Southern California (USC) suggests…

Jan 11, 2024

Ichthyosis: Diagnosis, Treatment, and Steps to Take

Posted by in categories: biotech/medical, genetics, health

Ichthyosis refers to a group of skin disorders that lead to dry, itchy skin that appears scaly, rough, and red. Your health care provider may be able to diagnose ichthyosis with a genetic test that detects the mutated gene usually from a blood sample or a swab from the mouth. Find out more:


What is ichthyosis? It is a disorder that causes dry, thickened skin that may look similar to fish scales.

Jan 11, 2024

Large study supports use of whole genome sequencing in standard cancer care

Posted by in categories: biotech/medical, genetics, health

In the largest study of its kind, scientists report how combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients.

The research, published in Nature Medicine, shows that linking WGS data to real-world clinical data can identify changes in cancer DNA that may be relevant for an individual patient’s care, for example by helping identify what treatment might work best for them based on their cancer.

The study, led by Genomics England, NHS England, Queen Mary University of London, Guy’s and St Thomas’ NHS Foundation Trust and the University of Westminster, analyzed data covering over 30 types of solid tumors collected from more than 13,000 participants with cancer in the 100,000 Genomes Project. By looking at the alongside routine clinical data collected from participants over a 5-year period, such as hospital visits and the type of treatment they received, scientists were able to find specific genetic changes in the cancer associated with better or worse survival rates and improved patient outcomes.

Jan 10, 2024

Ancient human DNA helps explain why northern Europeans have higher multiple sclerosis risk

Posted by in categories: biotech/medical, genetics, neuroscience

Ancient DNA helps explain why northern Europeans have a higher risk of multiple sclerosis than other ancestries: It’s a genetic legacy of horseback-riding cattle herders who swept into the region about 5,000 years ago.

The findings come from a huge project to compare modern DNA with that culled from ancient humans’ teeth and bones — allowing scientists to trace both prehistoric migration and disease-linked genes that tagged along.

When a Bronze Age people called the Yamnaya moved from the steppes of what are now Ukraine and Russia into northwestern Europe, they carried gene variants that today are known to increase people’s risk of multiple sclerosis, researchers reported Wednesday.

Jan 10, 2024

Unexpected Genetic Discovery Opens New Opportunities for Human Health

Posted by in categories: bioengineering, biotech/medical, genetics, health

An unexpected genetic discovery in wheat has led to opportunities for the metabolic engineering of versatile compounds with the potential to improve its nutritional qualities and resilience to disease.

Researchers in the Osbourn group at the John Innes Centre have been investigating biosynthetic gene clusters in wheat – groups of genes that are co-localized on the genome and work together to produce specific molecules.

Jan 10, 2024

Breakthrough in gene editing: Enhanced virus-like particles promise new era in genetic disease treatment

Posted by in categories: bioengineering, biotech/medical, genetics, nanotechnology

Background: The Promise of Prime Editing

Prime editing is a promising technology for changing genomic deoxyribonucleic acid (DNA) that has the potential to be used to cure genetic diseases in individuals. Prime editors are proteins that can replace a specific deoxyribonucleic acid sequence with another. PE systems necessitate three distinct nucleic acid hybridizations and are not dependent on double-strand deoxyribonucleic acid breaks or donor deoxyribonucleic acid templates.

Researchers must devise efficient and safe techniques to deliver prime editors in tissues in the in vivo settings to fulfill PE’s objective. While viral delivery techniques such as adenoviruses and adeno-associated viruses (AAVs) can transport PE in vivo, non-viral delivery techniques like lipid nanoparticles can sidestep these concerns by packaging PEs as temporarily expressing messenger ribonucleic acids.

Jan 10, 2024

The 5th Industrial Revolution as an engine for human longevity

Posted by in categories: bioengineering, biotech/medical, blockchains, genetics, internet, nanotechnology, quantum physics, robotics/AI

Before delving into the prospects of the Fifth Industrial Revolution, let’s reflect on the legacy of its predecessor. The Fourth Industrial Revolution, characterised by the fusion of digital, physical, and biological systems, has already transformed the way we live and work. It brought us AI, blockchain, the Internet of Things, and more. However, it also raised concerns about automation’s impact on employment and privacy, leaving us with a mixed legacy.

The promise of the Fifth Industrial Revolution.

The Fifth Industrial Revolution represents a quantum leap forward. At its core, it combines AI, advanced biotechnology, nanotechnology, and quantum computing to usher in a new era of possibilities. One of its most compelling promises is the extension of human life. With breakthroughs in genetic engineering, regenerative medicine, and AI-driven healthcare, we are inching closer to not just treating diseases but preventing them altogether. It’s a vision where aging is not an inevitability, but a challenge to overcome.

Jan 9, 2024

Experimental Therapy Eases Alzheimer’s Signs, Symptoms in Mice

Posted by in categories: biotech/medical, genetics, neuroscience

The therapy—developed at the University of Nebraska Medical Center (UNMC)—relies on both the immune system to fight key aspects of Alzheimer’s, plus modified cells that zero in on the brain protein plaques that are a hallmark of the disease.

In patients with Alzheimer’s, amyloid-beta protein forms plaques that prevent nerve cells from signaling each other. One theory is that this might cause irreversible memory loss and behavior changes characteristic of Alzheimer’s disease.

The new study was recently published in the journal Molecular Neurodegeneration. Researchers used genetically modified immune-controlling cells called Tregs to target amyloid-beta.

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