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Category: genetics

A special focus on rogue proteins may hold future promise in stopping the progression of nerve cell destruction in people who have amyotrophic lateral sclerosis (ALS) or frontotemporal dementia.

ALS, a rare but devastating disorder that’s also known as Lou Gehrig’s disease, attacks the body’s , resulting in progressive muscle weakness as the neurons degenerate over time. There is no cure. People with ALS eventually lose their strength and the ability to move their arms, legs and body.

About a third of those with ALS also develop frontotemporal dementia (FTD), a destruction of neurons in the brain that causes profound personality changes and disability. The two diseases are similar in both pathology and genetics. FTD tends to affect people earlier than Alzheimer’s disease, the most common type of dementia.

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Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method is speeding answers to physicians caring for infants in intensive care and opening the door to increased use of genome sequencing as a first-line diagnostic test for babies with cryptic conditions.

“Some people call this , we call it augmented intelligence,” said Stephen Kingsmore, MD, DSc, President and CEO of RCIGM. “Patient care will always begin and end with the doctor. By harnessing the power of technology, we can quickly and accurately determine the root cause of genetic diseases. We rapidly provide this critical information to physicians so they can focus on personalizing care for babies who are struggling to survive.”

A new study documenting the process was published today in the journal Science Translational Medicine. The workflow and research were led by the RCIGM team in collaboration with leading technology and data-science developers —Alexion, Clinithink, Diploid, Fabric Genomics and Illumina.

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BYU electrical engineering students have stumbled upon a very unconventional method that could speed up lab-on-a-chip disease diagnosis.

When someone goes to the hospital for a serious illness, if a bacterial infection is suspected, it can take up to three days to get results from a bacteria culture test. By then, it is often too late to adequately treat the infection, especially if the bacteria are resistant to common antibiotics.

BYU students are working on a project to diagnose antibiotic resistant bacteria, or superbugs, in less than an hour. Their method relies on extracting bacteria from a blood sample and then pulling DNA from that . If specific genetic codes indicating antibiotic resistance are present in the DNA, fluorescent molecules can be attached to these sites. Laser light can then be shined on the DNA samples and the molecules will light up.

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Researchers are edging closer to a therapy for Angelman syndrome that involves injecting molecules that can edit genes into the fetal brain. They have already succeeded in mice and say the approach could eventually treat people with the syndrome.

The work is of high interest because a similar strategy could also work for other genetic conditions linked to autism.

But the prospect of injecting molecules into fetal brains poses ethical questions, experts caution.

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Researchers at Los Alamos National Laboratory have created the largest simulation to date of an entire gene of DNA, a feat that required one billion atoms to model and will help researchers to better understand and develop cures for diseases like cancer.

“It is important to understand DNA at this level of detail because we want to understand precisely how turn on and off,” said Karissa Sanbonmatsu, a structural biologist at Los Alamos. “Knowing how this happens could unlock the secrets to how many diseases occur.”

Modeling genes at the atomistic level is the first step toward creating a complete explanation of how DNA expands and contracts, which controls genetic on/off switching.

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In a proof-of-principle study in mice, scientists at Johns Hopkins Medicine report the creation of a specialized gel that acts like a lymph node to successfully activate and multiply cancer-fighting immune system T-cells. The work puts scientists a step closer, they say, to injecting such artificial lymph nodes into people and sparking T-cells to fight disease.

In the past few years, a wave of discoveries has advanced new techniques to use T-cells – a type of white blood cell – in cancer treatment. To be successful, the cells must be primed, or taught, to spot and react to molecular flags that dot the surfaces of cancer cells. The job of educating T-cells this way typically happens in lymph nodes, small, bean-shaped glands found all over the body that house T-cells. But in patients with cancer and immune system disorders, that learning process is faulty, or doesn’t happen.

To address such defects, current T-cell booster therapy requires physicians to remove T-cells from the blood of a patient with cancer and inject the cells back into the patient after either genetically engineering or activating the cells in a laboratory so they recognize cancer-linked molecular flags.

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A UC Berkeley geneticist who helped invent the gene-editing tool Crispr told Business Insider its most profound impacts will be on agriculture.

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Circulation and cellular activity were restored in a pig’s brain four hours after its death, a finding that challenges long-held assumptions about the timing and irreversible nature of the cessation of some brain functions after death, Yale scientists report April 18 in the journal Nature.

The of a postmortem pig obtained from a meatpacking plant was isolated and circulated with a specially designed chemical solution. Many basic cellular functions, once thought to cease seconds or minutes after oxygen and blood flow cease, were observed, the scientists report.

“The intact brain of a large mammal retains a previously underappreciated capacity for restoration of circulation and certain molecular and cellular activities multiple hours after circulatory arrest,” said senior author Nenad Sestan, professor of neuroscience, comparative medicine, genetics, and psychiatry.

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