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The ways in which technology benefits healthcare
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Evolution is not as random as previously thought, finds new study

Evolution is not as random as previously thought, finds new study | healthcare technology | Scoop.it

A new study has found that the evolutionary trajectory of a genome may be influenced by its evolutionary history, rather than determined by numerous factors and historical accidents

 

This could allow scientists to explore which genes could be useful to tackle real-world issues such as antibiotic resistance, disease, and climate change.

 

We can use this approach to synthesize new kinds of genetic constructs that could be used to develop new drugs or vaccines.

 

The implications of the research are far-reaching and could lead to:

  • Novel Genome Design—allowing scientists to design synthetic genomes and providing a roadmap for the predictable manipulation of genetic material.
  • Combating Antibiotic Resistance—Understanding the dependencies between genes can help identify the 'supporting cast' of genes that make antibiotic resistance possible, paving the way for targeted treatments.
  • Climate Change Mitigation—Insights from the study could inform the design of microorganisms engineered to capture carbon or degrade pollutants, thereby contributing to efforts to combat climate change.
  • Medical Applications—The predictability of gene interactions could revolutionize personalized medicine by providing new metrics for disease risk and treatment efficacy

 

more at the original source  https://phys.org/news/2024-01-evolution-random-previously-thought.html

 

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Data Crunchers to the Rescue

Data Crunchers to the Rescue | healthcare technology | Scoop.it

Until recently, clinicians didn’t have good tools for personalized genetic analysis.

 

But that’s changing, thanks to quantitative biology. The discipline merges mathematical, statistical, and computational methods to study living organisms.

 

Quantitative biologists develop algorithms that chew through big datasets and try to make sense of them. In case of rare genetic disorders, that means analyzing loads of data from multiple patients to understand how their genes work in tandem with each other.

 

Researchers hope to give clinicians a peek at what their patients’ genes are doing, helping devise personalized therapies.

 

In recent years, DNA-sequencing technologies have matured to the point where a smart algorithm can parse genetic data from multiple patients and their families—and find tale-telling trends much faster than experiments on rodents can

 

read the entire post at https://nautil.us/issue/102/hidden-truths/data-crunchers-to-the-rescue

 

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Complicated medical mysteries of more than 130 patients with rare unidentified diseases solved

Complicated medical mysteries of more than 130 patients with rare unidentified diseases solved | healthcare technology | Scoop.it

A national network of “disease detectives” has cracked the complicated medical mysteries of more than 130 patients with rare, previously unidentified diseases, though the bulk of the cases that come to them remain unsolved, according to an analysis of the network released Wednesday.

 

The Undiagnosed Diseases Network — which now has 12 clinics nationwide, including one at Stanford — has a solve rate of about 35 percent, according to the analysis, published in the New England Journal of Medicine. Considering that all of the cases the network investigates involve patients with extremely complex conditions for which they’ve gone years — sometimes decades — without a diagnosis, that’s an impressive outcome, said the authors of the report.

 

Most patients were diagnosed after a thorough analysis of their genome revealed a rare genetic mutation. Some were diagnosed only after the network was able to find just one or two other patients in the world with similar symptoms who had gotten a diagnosis.

 

If doctors can access previous research that has connected certain symptoms with specific parts of the genome, that can at least give them a clue of where to look for a diagnosis. The Undiagnosed Diseases Network, which often relies on genome sequencing to diagnose patients, could be a major contributor to that greater understanding

 

the original unedited story : https://www.sfchronicle.com/health/article/Disease-detectives-crack-cases-of-130-13297547.php

 

 
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Using Biotechnology to Battle Extinction

Using Biotechnology to Battle Extinction | healthcare technology | Scoop.it

Researchers at the American Chestnut Research and Restoration Project, led by William Powell and Charles Maynard of New York University in Syracuse, have created a genetically modified version of the American chestnut that is completely fungus-resistant.


Known as “Darling4,” these homebrewed trees contain the wheat gene OxO, which produces an enzyme that blocks the acid the fungus uses to attack the trees. Even better, after long years of work, the trait appears heritable.


This is a huge step forward. It will hopefully move ecology beyond its too often far-Luddite position and put it in line with current thinking about agriculture—thinking UC Davis plant pathologist Pamela Ronald well-summarized in the Economist:


A premise basic to almost every agricultural system (conventional, organic, and everything in between) is that seed can only take us so far. The farming practices used to cultivate the seed are equally important. GE crops alone will not provide all the changes needed in agriculture. Ecologically based farming systems and other technological changes, as well as modified government policies, undoubtedly are also required. Yet. . . there is now a clear scientific consensus that GE crops and ecological farming practices can coexist, and if we are serious about building a future sustainable agriculture, they must.


This co-existence is critical to the future of the environment as well. And the chestnut is bringing this issue to the fore. Since 2006, scientists have been growing over 1000 of these GE-trees in contained plots, but now they are applying to the US government for permission to move them into the wild. No question about it, the approval process could be sticky.


Not only does the EPA and the Department of Agriculture have to approve this wild-release tree, but because the chestnuts are edible—and because there’s no way for wild chestnut trees to come with the kind of ‘Contains GMO’ labeling that states like Vermont now demand—the FDA will also get to weigh in as well.

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Epigenetics - A Timeline

Researchers are clarifying epigenetic intricacies such as missing heritability, disease markers, methylated proteins, and imprinted genes. But how did we get here? Learn about the history of epigenetics in this timeline spanning 130 years.


source: http://www.youtube.com/watch?v=tPZX6VxqtWo&feature=youtu.be&a

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Team finds 'footprint' of coronavirus outbreak from 20K years ago

Team finds 'footprint' of coronavirus outbreak from 20K years ago | healthcare technology | Scoop.it

A team of researchers analyzed the genomes of more than 2,500 modern humans from 26 worldwide populations, to better understand how humans have adapted to historical coronavirus outbreaks.

 

The team used computational methods to uncover genetic traces of adaptation to coronaviruses, the family of viruses responsible for three major outbreaks in the last 20 years, including the ongoing COVID-19 pandemic.

 

Traces of the outbreak are evident in the genetic makeup of people from that area, they’ve found.

 

A coronavirus epidemic broke out in the East Asia region more than 20,000 years ago, as per their findings.

 

The discovery of a coronavirus outbreak from 20,000 years ago is "like finding fossilized dinosaur footprints instead of finding fossilized bones directly.

 

The work shows that over the course of the epidemic, selection favored certain variants of human genes involved in the virus-cell interactions that could have led to a less severe disease. Studying the “tracks” left by ancient viruses can help researchers better understand how the genomes of different human populations adapted to viruses that have emerged as important drivers of human evolution.

 

The study’s authors say their research could help identify viruses that have caused epidemics in the distant past and may do so in the future. Studies like theirs help researchers compile a list of potentially dangerous viruses and then develop diagnostics, vaccines, and drugs for the event of their return.

 

read the paper at https://www.cell.com/current-biology/fulltext/S0960-9822(21)00794-6

 

 

more at https://www.futurity.org/coronavirus-epidemic-viruses-2597742/

 

nrip's insight:

The promise of evolutionary genetic analyses as a new tool in fighting the outbreaks of the future

nrip's curator insight, July 19, 2021 10:52 PM

The promise of evolutionary genetic analyses as a new tool in fighting the outbreaks of the future

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New tool activates deep brain neurons by combining ultrasound, genetics

New tool activates deep brain neurons by combining ultrasound, genetics | healthcare technology | Scoop.it

Neurological disorders such as Parkinson's disease and epilepsy have had some treatment success with deep brain stimulation, but those require surgical device implantation.

 

A multidisciplinary team at Washington University in St. Louis has developed a new brain stimulation technique using focused ultrasound that is able to turn specific types of neurons in the brain on and off and precisely control motor activity without surgical device implantation.

 

The team, led by Hong Chen, is the first to provide direct evidence showing noninvasive, cell-type-specific activation of neurons in the brain of mammal by combining ultrasound-induced heating effect and genetics, which they have named sonothermogenetics.

 

It is also the first work to show that the ultrasound- genetics combination can robustly control behavior by stimulating a specific target deep in the brain.

 

Results of the three years of research, which was funded in part by the National Institutes of Health's BRAIN Initiative, were published online in Brain Stimulation May 11, 2021.

 

"Our work provided evidence that sonothermogenetics evokes behavioral responses in freely moving mice while targeting a deep brain site," Chen said. "Sonothermogenetics has the potential to transform our approaches for neuroscience research and uncover new methods to understand and treat human brain disorders."

 

 

more at https://medicalxpress.com/news/2021-05-tool-deep-brain-neurons-combining.html

 

 

Nassima Chraibi's curator insight, January 9, 2023 12:07 PM
This article discusses a new non-invasive deep brain stimulation technique, called sonothermogenetics, which allows to precisely target certain types of neurons. This new technique could allow the development of new methods and research on brain disorders.
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Genetic researchers have a new tool in API-controlled lab robots

Genetic researchers have a new tool in API-controlled lab robots | healthcare technology | Scoop.it

A life-sciences-as-a-service startup called Transcriptic has opened its APIs to the general public, allowing researchers around the world offload tedious lab work to robots so researchers can spend more of their time analyzing the results.


Using a set of APIs, researchers can now command Transcriptic’s purpose-built robots to process, analyze, and store their genetic or biological samples, and receive results in days.


The high concept idea, says Founder and CEO Max Hodak, is cloud computing for life sciences — only with “robotic work cells” instead of servers on the other end. “We see the lab in terms of the devices that make it up,” he said, meaning stuff like incubators, freezers, liquid handlers and robotic arms to replace human arms.


And although Transcriptic’s technology is complex, the process for getting work done is actually pretty simple. Researchers write code to tell the robots exactly what to do with the samples (right now, the company focuses on molecular cloning, genotyping, bacteria-growing and bio-banking), and then they send their samples to the Transcriptic lab.


Alternatively, Transcriptic’s robotic infrastructure can also synthesize samples for users.


And although Transcriptic’s technology is complex, the process for getting work done is actually pretty simple.


Researchers write code to tell the robots exactly what to do with the samples (right now, the company focuses on molecular cloning, genotyping, bacteria-growing and bio-banking), and then they send their samples to the Transcriptic lab. Alternatively, Transcriptic’s robotic infrastructure can also synthesize samples for users.


When the job is done, researchers get their results. That process can take anywhere from a day to weeks, Hodak explained, in part because the company’s operation is still pretty small and in part because “cells only grow and divide so quickly.”


more at http://gigaom.com/2014/07/15/genetic-researchers-have-a-new-tool-in-api-controlled-lab-robots/


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DNA Sequencing Helped A Doctor Save This Teen's Life

DNA Sequencing Helped A Doctor Save This Teen's Life | healthcare technology | Scoop.it

Many recent headlines regarding DNA and genetic science have been complex and hard for the average person to relate to. When the technology saves a young person's life, such as what happened recently at the University of California, San Francisco, the science takes on human qualities, and as a public, we can truly grasp just how important and revolutionary this combination of biology and technology really is.


Dr. James Gern, a professor of pediatrics and medicine at the University of Wisconsin School of Medicine and Public Health in Madison, contacted Joseph DeRisi for help after his patient, a 14-year-old boy, was hospitalized with encephalitis. The prognosis was so severe that the young  man had been hospitalized for six weeks and put into a medically induced coma, according to a press release.


None of the tests and procedures run so far had managed to point out the cause of the boy’s illness. Gern contacted DeRisi, chair of biochemistry and biophysics at UCSF, due to his expertise in new genomic techniques. These techniques involved identifying pathogens that were previously unknown, such as that which caused the young man's illness. According to DeRisi, with this new technology, essentially any pathogen can now be detected with a single test. Once the cause was found, correct treatment could be administered.


The case study can be found published online in the New England Journal of Medicine.


Using SURPI, a tool used in “next generation-sequencing,” a team of researchers quickly and efficiently found the cause of the young man’s illness.

With the help of the technology, the team compared samples of the boy’s DNA to the GenBank databases maintained by the National Center for Biotechnology Information with awe-inspiring speed, doing in 96 minutes what before took at least a day.

Researchers determined that 475 distinct DNA sequences among the three million DNA sequences obtained in the patient’s cereospinal fluid came from a type of bacteria called Leptospira.


The team was even able to pinpoint the exact strain of Leptospira that they boy had been contaminated with: one native to the Caribbean and warmer climates.


Based on these findings, researchers decided to treat the boy using penicillin without having the diagnosis validated with a clinically approved test.


The antibiotics treatment was successful in ridding the boy’s body of infection, and he was discharged and sent home shortly afterward.


Validation by a clinically approved test could have taken upward of five months to confirm, and by this time the boy may not have survived. 


more at http://www.medicaldaily.com/dna-sequencing-test-saves-young-teens-life-technology-just-months-away-commercial-approval-286490


The case study can be read at http://www.nejm.org/doi/full/10.1056/NEJMoa1401268#t=article




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For Some Cancer Patients, Personalized Medicine Has Arrived

For Some Cancer Patients, Personalized Medicine Has Arrived | healthcare technology | Scoop.it

New tools for analyzing genes are allowing doctors to personalize treatment for some lung cancer patients.


Imagine your doctor being able to scan your DNA from a biopsy and pinpoint the medicine that will work best for you. This type of high-tech approach is a clinical reality for advanced lung cancer at The Ohio State Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).


The technology, known as next generation "multiplex" gene sequencing, analyzes 50-plus genes in DNA extracted from a tumor biopsy for particular genetic mutations.


Previous technology required pathologists to analyze one mutation per tube in a sequencing reaction, but next-generation genome sequencing assesses more than 2,500 mutations in a single reaction. 


Knowing which mutations are present in lung tumors can help doctors tailor a patient's treatment to the unique genetic features present in his or her cancer cells.


The knowledge can also help in the development of new drugs that target previously unrecognized gene mutations in lung tumors. I often compare these genes to the gas pedal in a car — when activated, these genes make the cancer grow. By breaking the linkage between the gas pedal and the motor (or interfering with these "driver" mutations) with specific targeted drugs, doctors can stop this growth and often make the cancer shrink.


That's especially important in lung cancer because the majority of patients with this disease are diagnosed in the later stages, meaning it's important to start effective therapies quickly.


For example, a patient could be given a standard chemotherapy and expect a 25- to 30- percent response rate/shrinkage of a tumor. But if the treatment team knows that a patient has a mutation in a gene called EGFR, we can offer him or her a pill (erlotinib and afatinib are approved for this use in the United States), which has a 75-percent response rate and fewer side effects.


Gene sequencing is now considered the standard of care for stage-4 lung cancer patients at The OSUCCC – James and a handful of other centers across the United States — and several clinical trials evaluating molecular targeted therapies for patients with stage-3 lung cancers will soon start at The OSUCCC – James.


Lung cancer remains the number one cause of cancer death in the United States, and in the world, among both men and women. More than 200,000 cases are diagnosed annually in the United States. Each year during the month of November, physicians and others observe lung cancer awareness month, which sheds light on this terrible disease.

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