Tag Archives: Research

In The Lab, Medicine, Research, Reviews, Videos

Dementia: What Are The Benefits of Genetic Tests?

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AlzheimersResearch UK (February 28, 2023) – In this video, Prof Nick Fox, Director of the Dementia Research Centre at UCL (and specialist in familial Alzheimer’s disease) answers frequently asked questions about getting a genetic test for dementia.

Video timeline: 0:00 Start 0:01 #1.What is the difference between dementia risk genes and rare familial genes? 1:05 #2.Which genes are tested for? 1:45 #3.What happens in families with directly inherit dementia? 3:20 #4.What are the common misconceptions? 4:14 #5.Do I need to know which gene runs in my family? 9:50 #6.How do I get a genetic test for dementia? 11:09 #7.What if my doctor won’t refer me for the test? 11:56 #8.Will getting my results affect my life insurance or mortgage?

Having a test to look for a faulty gene that causes dementia is only appropriate for a very small number of people. This is because only around one in 100 cases of dementia are directly inherited. In these cases, there is an obvious pattern of a parent passing it on to their child (or children) throughout every generation of a family, often developing symptoms in their 40s and 50s.

In The Lab, Medicine, Research

RESEARCH: ‘SINGLE DROP’ BLOOD TESTING ADVANCES

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“Even more importantly, we’ve shown you can collect the blood drop at home and mail it into the lab,” said Michael Snyder, PhD, director of the Center for Genomics and Personalized Medicine and senior author on the research, which was published in Nature Biomedical Engineering on Jan. 19.

Stanford Medicine (January 19, 2023) – Researchers at Stanford Medicine have shown they can measure thousands of molecules — some of which are signals of health — from a single drop of blood.

Unlike finger-prick testing for diabetes, which measures a single type of molecule (glucose), multi-omics microsampling gives data about thousands of different molecules at once.

finger prick
A single drop of blood can yield measurements for thousands of proteins, fats and other biomarkers, researchers at Stanford Medicine found.

The new approach combines a microsampling device — a tool used to self-administer a finger prick — with “multi-omics” technologies, which simultaneously analyze a vast array of proteins, fats, by-products of metabolism and inflammatory markers.

Aging, Medicine, Research, Reviews, Videos

EPIGENETICS & AGING: DNA BREAKAGE & REPAIR EFFECTS

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Harvard Medical School – A 13-year international study in mice demonstrates that loss of epigenetic information, which influences how DNA is organized and regulated, can drive aging independently of changes to the genetic code itself.

It also shows that restoring the integrity of the epigenome reverses age-related symptoms.

Learn more at https://hms.harvard.edu/news/loss-epi…

Research, Videos

Science: New Research Into Diseases Of The Brain

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Take an animated look inside the neuron, and learn how scientists are addressing brain disease. With approximately 86 billion neurons in the brain, humans contain the most complex communications network imaginable. To address diseases of brain development and degeneration, neuroscientists are investigating how and why this network breaks down, and what can be done to repair it.

One area of study is dendrites, which are the tree-like structures of neurons, that receive electrical impulses. Researchers are carefully mapping out brain circuits and uncovering how connectivity changes can result in defects of the visual system or behavioral problems. The core section of the neuron is the cell body. Genetic engineering tools are revealing how mutations impact brain development and contribute to autism spectrum disorder or rare, inherited forms of neurological disease.

The transmission of nerve impulses occurs along the axon, which is insulated, much like an electrical wire, by a fatty layer called the myelin sheath. Scientists have invented a medicine to stop the immune system from mistakenly attacking this layer, which occurs during multiple sclerosis. Other molecules currently in development instruct the body to regenerate the sheath and repair damage. The axon also transports valuable cellular cargo, such as neurotransmitters, along tracks from one end of the neuron to the other.

Researchers are testing drug candidates for their ability to remove molecular traffic jams when this transport system fails, as often occurs in Parkinson’s and Alzheimer’s disease. The axon terminals make connections called synapses with other cells, using neurotransmitters as signals. Some scientists are evaluating how finely tuning the receptors for these chemicals could ease depression and anxiety.

Others are finding ways to promote the regrowth of lost synapses, which could halt neurodegeneration. From genetics to behavior, neuroscience is accelerating new interventions for the most challenging disorders of the nervous system.

Learn more: https://www.scripps.edu/

Medicine, Research

MEDICINE: WHY LONG COVID IS STILL NOT UNDERSTOOD

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Even mild COVID-19 is at least correlated with a startlingly wide spectrum of seemingly every illness. We need a much better taxonomy to address people’s suffering.

Long Covid – Whole Body Symptoms

From The Atlantic, October 5, 2022:

The cases of long covid that turn up in news reports, the medical literature, and in the offices of doctors like me fall into a few rough (and sometimes overlapping) categories. The first seems most readily explainable: the combination of organ damage, often profound physical debilitation, and poor mental health inflicted by severe pneumonia and resultant critical illness.

This serious long-term COVID-19 complication gets relatively little media attention despite its severity. The coronavirus can cause acute respiratory distress syndrome, the gravest form of pneumonia, which can in turn provoke a spiral of inflammation and injury that can end up taking down virtually every organ. I have seen many such complications in the ICU: failing hearts, collapsed lungs, failed kidneys, brain hemorrhages, limbs cut off from blood flow, and more. More than 7 million COVID-19 hospitalizations occurred in the United States before the Omicron wave, suggesting that millions could be left with damaged lungs or complications of critical illness. Whether these patients’ needs for care and rehabilitation are being adequately (and equitably) met is unclear: Ensuring that they are is an urgent priority.

Read full article at The Atlantic

Medicine, Research, Studies

Studies: What Makes For Successful Recoveries

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Inflammation is the body’s first line of defense, occurring as droves of immune cells rush to the site of injury or acute illness to make repairs and stem further damage.

When successful, inflammation helps the body survive and heal after trauma. However, when recovery following an inflammatory response goes awry, it signals that damage is still occurring — and the inflammation itself can cause further injury, leading to more-severe illness or even death.

But what differentiates a good inflammatory recovery from a bad one?

A new study, led by researchers at Harvard Medical School and Massachusetts General Hospital, published Aug. 22 in Nature Communications, yields critical clues.

The scientists identified universal features of the inflammatory responses of patients who successfully recovered after surgery or acute illnesses such as COVID-19, heart attack, and sepsis. These features, they discovered, include precise paths that white blood cell and platelet counts follow as they return to normal.

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In The Lab, Medicine, Research, Videos

Research: The Search For A Universal Vaccine (2022)

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Vaccines are one of the greatest scientific discoveries in human history. They eradicated a disease, smallpox, that killed 300 million people in the 20th Century. They save countless lives every year, protecting against diseases caused by viruses like polio, measles and yellow fever. But some viruses are particularly difficult to target with vaccines.

We need a flu shot every year because the virus mutates so much previous vaccines may no longer be effective. Scientists are closer than ever before to developing what are known as universal vaccines. These vaccines would protect against many variants of a given virus, and potentially against entire virus families. Viruses are constantly mutating, but only some of those mutations are important.

For example, a change in the shape or chemical properties of the spike protein a virus uses to infect a cell could make the virus more transmissible. It could also mean antibodies developed from previous infection or vaccination wouldn’t be able protect against the current virus. But, there are some sites on viruses that don’t mutate as much, or at all. These sites are often vital to the virus’ survival. Scientists are using powerful technologies to identify antibodies that target these sites.

They’re called broadly neutralizing antibodies and are capable of protecting against multiple viral variants. Now, researchers are working to design shots that get our bodies to produce broadly neutralizing antibodies. Meaning someday soon, vaccines for HIV, flu and coronavirus might be enough to effectively ward off these viruses for the better part of a lifetime.

Medicine, Men's Health, Videos

Melanoma: Men Have Higher Mortality Rates

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Researchers say men are more likely to die from melanoma than women. And by the time a man is 50, the likelihood of developing melanoma increases every year, compared with women.

“The main risk factors for melanoma are sun exposure, amount of sun exposure, high-level sun exposure — meaning sunburns — but also light skin color,” says Aleksandar Sekulic, M.D., a Mayo Clinic dermatologist.

The most common places for melanoma to occur are body parts exposed to the sun, including the face, back, arms and legs. The first signs are often a change to an existing mole or an unusual-looking growth on the skin.

“The big problem with melanoma is not only that it starts in the skin, but that it can spread. And it can be deadly,” says Dr. Sekulic.

Avoid prolonged exposure to the sun, especially in the middle of the day to prevent sunburns. Wear protective gear outside, such as a broad-brimmed hat, tightly woven clothing that covers your arms and legs, and sunglasses to protect your eyes. And use sunscreen generously with a sun protection factor of 30 or higher on exposed areas of skin. Reapply at least every two hours. And if you’re swimming or sweating, use water- and sweat-resistant sunscreen.

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Dr. C's Journal, Medicine, Research

Cancer Treatments: CAR-T Cell “Smart” Therapy

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In war, we are familiar with “smart bombs” that home in on a laser-marked target, or a heat source. The same thing is happening in our battle with cancer. Everybody has had friends or relatives given chemotherapy, which affects all cells, but  cancer cells, since they are dividing more rapidly, suffer the most. However, the entire body is affected with weight loss, hair loss, anemia, leukopenia and other severe symptoms.

The two developments I would like to address here, are smart chemotherapy using ADCs, and smart immunotherapy using CAR-T cells.

In smart chemotherapy, a poisonous package is linked to an antibody which homes in on cancer cells having a specific membrane marker on their surface. For instance, many cancers, not just those of the breast, express HER-2 receptors. Antibodies specific for this receptor are attached to such drugs as doxorubicin, in a therapy called ADC. The coupled pair then home in on the cancer cell and kill it, sparing  the rest of the body most of the exposure to this toxic chemical. This is really a form of immunotherapy, since it uses antibodies.

Smart cell therapy with CAR-T cells, uses T lymphocytes which normally have surface ligands that attach to various cells marked for killing. These T-cells have their targets genetically modified, with antibody receptors, to be specific for such things as CD 19 and BCMA on the surface of cancer cells. When infused, the T-cells latch on to the specified cancer cells and punch holes in them. The treatment can have some side effects, but they are usually much less severe than  regular chemotherapy.

CAR-T cell therapy has been very successful for blood cancers like leukemia, Lymphoma, and multiple myeloma. It can produce flu-like symptoms from the recruitment of lymphokines, and occasionally neurologic symptoms. It is currently successful in about a third of the cases, used as a second line therapy, and is very expensive.

It used to be that a cancer was classified according to its anatomic location, e.g. breast cancer, colon cancer, skin cancer. With increased knowledge, it is now becoming more important to know the surface markers of the cancer than the organ of origin.

—Dr. C.

JAMA Oncology Article

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Medicine, Research, Videos

Sports Medicine: Tennis Wrist Injury Research

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Whether it’s the serve, forehand, backhand or volley, tennis puts a lot of stress on your wrist. Many of those injuries are caused by chronic overuse. How you grip the racket and hit the ball plays a major role, too, which is why Mayo researchers recently studied tennis players’ strokes in a motion analysis lab.