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Researchers at the Francis Crick Institute, UCL, and MSD have identified a potential treatment target for a genetic type of epilepsy.

Developmental and epileptic encephalopathies are rare types of epilepsy that start in early childhood. One of the most common types of genetic epilepsy, CDKL5 deficiency disorder (CDD), causes seizures and impaired development. Children are currently treated with generic antiepileptic drugs, as there aren’t yet any disease-targeting medications for this disorder.

CDD involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function. Until now, researchers have not been sure how genetic mutations in CDKL5 cause CDD.

A new sickle cell disease therapy developed by CRISPR Therapeutics and Vertex Pharmaceuticals is now approved in the U.S. and U.K. This is the story of how it came to be.

Summary: Researchers created a revolutionary system that can non-invasively convert silent thoughts into text, offering new communication possibilities for people with speech impairments due to illnesses or injuries.

The technology uses a wearable EEG cap to record brain activity and an AI model named DeWave to decode these signals into language. This portable system surpasses previous methods that required invasive surgery or cumbersome MRI scanning, achieving state-of-the-art EEG translation performance.

Continue reading “AI and EEG Transform Silent Thoughts to Text” »

Study demonstrates that inhibiting stromal class I histone deacetylases (HDACs) can effectively slow down pancreatic cancer progression, shedding light on a new therapeutic approach targeting the tumor microenvironment.

Lymphatic fluid from surgical drains, which is usually tossed in the trash, is a treasure in the hands of University of Pittsburgh and Washington University School of Medicine in St. Louis researchers who found that this liquid could inform more precise treatments for patients with head and neck cancer caused by human papillomavirus (HPV).

The new study, published in Clinical Cancer Research, shows for the first time that HPV DNA in lymphatic fluid collected after surgery is a powerful biomarker that could predict risk of cancer recurrence and help clinicians decide whether to ramp up adjuvant therapies or safely de-escalate treatment for patients with HPV-positive head and neck cancer.

“Over the last decade, there has been emerging interest in liquid biopsy to pick up cancer recurrences after treatment,” said senior author José P. Zevallos, M.D., M.P.H., professor and Eugene N. Myers, chair of the Department of Otolaryngology at the Pitt School of Medicine and UPMC Hillman Cancer Center. “Our goal was to bring liquid biopsy into the curative pathway for head and neck cancer so that we can use it not just to find recurrences but also to help make treatment decisions.”

MIT researchers have used 3D printing to produce self-heating microfluidic devices, demonstrating a technique which could someday be used to rapidly create cheap, yet accurate, tools to detect a host of diseases.

Microfluidics, miniaturized machines that manipulate fluids and facilitate chemical reactions, can be used to detect disease in tiny samples of blood or fluids. At-home test kits for COVID-19, for example, incorporate a simple type of microfluidic.

But many microfluidic applications require chemical reactions that must be performed at specific temperatures. These more complex microfluidic devices, which are typically manufactured in a clean room, are outfitted with heating elements made from gold or platinum using a complicated and expensive fabrication process that is difficult to scale up.

In 2001, Gina Arata was in her final semester of college, planning to apply to law school, when she suffered a traumatic brain injury in a car accident. The injury so compromised her ability to focus she struggled in a job sorting mail.

“I couldn’t remember anything,” said Arata, who lives in Modesto with her parents. “My left foot dropped, so I’d trip over things all the time. I was always in car accidents. And I had no filter—I’d get pissed off really easily.”

Her parents learned about research being conducted at Stanford Medicine and reached out; Arata was accepted as a participant. In 2018, physicians surgically implanted a device deep inside her brain, then carefully calibrated the device’s electrical activity to stimulate the networks the injury had subdued. The results of the clinical trial were published Dec. 4 in Nature Medicine.

For the first time, scientists have begun to figure out why the disfiguring skin lesions caused by cutaneous leishmaniasis don’t hurt.

Researchers analyzed leishmaniasis lesions on mouse skin to detect metabolic signaling pathways that differed from uninfected mice. Results suggested the parasites that cause the disease change pain perception—presumably as a way to delay treatment and promote their own survival.

“No one knows why these lesions are painless—but it has been thought that the parasite somehow manipulates the host physiological system,” said Abhay Satoskar, senior author of the study and professor of pathology at The Ohio State University College of Medicine.

Introduction to spatial genomics The power of single-cell resolution Mapping the blueprint of health Case study: Bio-Techne Challenges and future prospects References Further reading

Spatial genomics is a cutting-edge field that combines genomics and spatial analysis to investigate the role of genomic features in disease at single-cell resolution.

Spatial genomics is a field of study that focuses on analyzing the spatial organization of genomic features within intact tissues. It involves the simultaneous analysis of various molecular components, including genomic DNA and RNA, through transcriptomic analysis and epigenetic modifications within their spatial context. These techniques aim to reveal the spatial relationships between the different genomic elements and provide insights into the organization and function of single cells within tissues, enabling the molecular connection of a particular genotype to its phenotype.