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The National Partnership to Improve Dementia Care in Nursing Homes is committed to improving the quality of care for individuals with dementia living in nursing homes. The National Partnership has …
Source: 40% decrease in use of anti-psychotic med in nursing homes in California
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The National Partnership to Improve Dementia Care in Nursing Homes is committed to improving the quality of care for individuals with dementia living in nursing homes. The National Partnership has a mission to deliver health care that is person-centered, comprehensive and interdisciplinary with a specific focus on protecting residents from being prescribed antipsychotic medications unless there is a valid, clinical indication and a systematic process to evaluate each individual’s need. The Centersfor Medicare & Medicaid Services (CMS) promotes a multidimensional approach that includes; research, partnerships and state-based coalitions, revised surveyor guidance, training for providers and surveyors and public reporting. CMS is tracking the progress of the National Partnership by reviewing publicly reported measures.
The official measure of the Partnership is the percentage of long-stay nursing home residents who are receiving an antipsychotic medication, excluding those residents diagnosed with schizophrenia, Huntington’s Disease or Tourette’s Syndrome. In 2011Q4, 23.9 percent of long-stay nursing home residents were receiving an antipsychotic medication; since then there has been a decrease of 31.8 percent to a national prevalence of 16.3 percent in 2016Q2. Success has varied by state and CMS region, with some states and regions having seen a reduction of greater than 30 percent.
A four-quarter average of this measure is posted to the Nursing Home Compare website at https://www.medicare.gov/ nursinghomecompare/.
Connie’s comments: Many caregivers in care homes are taking care of mentally challenged seniors. They have anxiety disorders and revert back to childlike behavior. In the company of others, they are less anxious while some of them have insomia, depression and panic attacks.
By Moheb Costandi Lucy Cheke and her colleagues at the University of Cambridge recently invited a few participants into her lab for a kind of ‘treasure hunt’. The participants navigated a virtual e…
Lucy Cheke and her colleagues at the University of Cambridge recently invited a few participants into her lab for a kind of ‘treasure hunt’.
The participants navigated a virtual environment on a computer screen, dropping off various objects along their way. They then answered a series of questions to test their memory of the task, such as where they had hidden a particular object.
When examining what might have influenced their performance, you might expect that Cheke would have been more concerned with the participant’s IQ – not their waistline. Yet she found a clear relationship between their Body Mass Index – a measure of your weight relative to your height – and apparent memory deficits: the higher a participant’s BMI, the worse they performed on the Treasure Hunt task.
In doing so, Cheke has contributed to a small but growing body of evidence showing that obesity is linked to brain shrinkage and memory deficits. This research suggests that obesity may contribute to the development of neurodegenerative conditions such as Alzheimer’s Disease.
Surprisingly, it also seems to show that the relationship between obesity and memory is a two-way street: being overweight or obese not only impacts on memory function, but may also affect future eating behaviour by altering our recollections of previous eating experiences.
Overeating may cause long-term changes to the brain, damaging our recall (Credit: Getty Images)
Cheke’s interest in the subject began unexpectedly. “At the time I was looking at the ability to imagine a future state, particularly in terms of making decisions about food,” says Cheke. “If you’re hungry, you’ll imagine your future self as being hungry, too, but obese people seem to make such decisions on fact-based judgements rather than imagining.”
One possibility was that the obesity might have been damaging their capacity for “mental time travel”. Scientific research has long shown that memory and imagination are intimately linked, as we piece together fragments of past recollections to predict how future events might pan out.
The link made sense, she says, with some signs that obesity affects areas of the brain known to be used in memory and imagination. In 2010, for instance, researchers at Boston University School of Medicine reported that healthy, middle-aged adults with increased abdominal fat tend to have slightly lower overall brain volume. In particular, the hippocampus, a deep brain structure sometimes called the brain’s printing press thanks to its role learning and memory, was significantly smaller in obese people compared to leaner individuals.
There were also some hints from animal studies. “In studies focusing on weight changes and eating behaviours in rodents, the animals were terrible at learning tasks such as the Morris water maze,” explains Cheke. “The more I looked into it, the more I expected to see memory deficits, but that question was still very much open.”
Hence her experiment with the treasure hunt. Sure enough the obese participants found it particularly difficult to remember the location of the different objects – adding some important evidence for her hypothesis, and supporting earlier findingsthat indirectly linked obesity to impairments of cognitive function.
Unhealthy eating can age the brain, accelerating the natural cognitive decline by 10 years (Credit: Getty Images)
More recently, a brain scanning study including more than 500 participants confirmed that being overweight or obese is associated with a greater degree of age-related brain degeneration. These effects were biggest in middle-aged people, in whom the obesity-related changes corresponded to an estimated increase in ‘brain age’ of 10 years.
Obesity is a complex condition with many contributing factors, however; so exactly how it might affect brain structure and function is still unclear.
“Body fat is the defining feature of obesity, but you’ve also got things like insulin resistance, hypertension, and high blood pressure,” says Cheke. “These can go hand in hand with behavioural factors [such as overeating and lack of exercise] and they can all potentially cause changes in the brain.”
“For example, insulin is an important neurotransmitter, and there’s a lot of evidence that diabetes is associated with changes in learning and memory,” she adds, “but there’s also evidence that high body fat on its own leads to inflammation in the brain, which can also cause problems.”
Inflammation is another potential culprit. Psychologists from the University of Arizona examined data from more than 20,000 participants in the English Longitudinal Ageing Study, in which measures of memory, BMI, and blood plasma levels of an inflammatory marker called C-reactive protein were collected every 2 years between 1998 and 2013.
They found that greater body mass was associated with a decline in memory function, and also with higher levels of the inflammatory protein. Although these links are indirect, the results suggest that brain inflammation is one plausible mechanism by which differences in body mass might influence cognitive function in otherwise healthy, aging adults.
Two-way street
This should be of particular concern, given recent evidence that the path between memory and obesity may go both ways, as attention and memory control our appetite and eating behaviour. In other words, a deficit in your memory could cause you to gain weight.
Early evidence that memory plays an important role in eating behaviour came from a 1998 study showing that patients with severe amnesia will readily eat multiple meals one after the other, because they could not remember that they had just eaten.
“This shows that when we’re deciding how much to eat we’re not just basing those decisions on physiological signals about how much food there is in our stomach, but also on cognitive processes like memory,” says experimental psychologist Eric Robinson of the University of Liverpool.
“If your memory’s impaired or just not very good then you might overeat,” he adds. “I wanted to know if this could be reversed. If you improve a person’s memory, could that be a useful way of getting them to eat less?”
People with amnesia tend to overeat, suggesting that a good memory of our last meal may curb hunger pangs (Credit: Getty Images)
Robinson and his colleagues recruited 48 overweight or obese people and invited them to eat lunch in the lab. The participants were randomly divided into two groups, and given audio recordings to listen to while they ate.
Those in one group listened to audio instructing them to pay attention to their food, while those in the other listened to an audio book with non-food related content.
The researchers then invited them back the following day, presented with some high-energy snacks, and measured how much they ate. They found that those who had been instructed to focus on their lunchtime meal the previous day ate nearly one third less of the snacks than those who had been distracted by the audio book.
A larger follow-up study confirmed these findings. This time, Robinson and his colleagues randomly assigned a total of 114 women to one of two groups, and tried to manipulate the extent to which they were aware of their eating behaviour.
Again, they gave all participants the same lunchtime meal, consisting of a ham sandwich, mini sausage rolls, a packet of crisps, rice cakes, chocolate chip cookies and seedless grapes.
Before sitting down to eat, the participants in one group were told that they were taking part in a study of eating behaviour, and that the amount of food they ate would be measured. The rest were told that they were taking part in a study of how their thought processes and moods change during the course of the day.
The researchers found no overall difference between how much participants in both groups ate. Those who had been told that they were taking part in a study of eating behaviour tended to eat fewer cookies than those in the other group, however, apparently because their awareness of their own food consumption was heightened.
Interventions that boost our attention to food may help us to lose weight (Credit: Getty Images)
Attention and memory are independent of each other, but they are closely linked – we cannot remember something that we did not pay attention to and, by the same token, our memories of something tend to be more vivid the more we attend to it.
It’s therefore possible that a vivid memory of lunch could reactivate the body’s physiological state, so that we do not feel so hungry, and consequently eat less at dinner. On the other hand, someone who was distracted during lunch would form weak memories of the meal, and so thinking about it at dinner might make them feel hungrier and eat more.
In one 2011 study, for instance, half the participants played Solitaire on a computer while eating their lunch. Sure enough, they had hazier memories of their lunch and went on to eat significantly more biscuits later on than those who did not.
This is particularly interesting, given the evidence that over-eating can impair your memory, with both the over-eating and the memory problems reinforcing each other, pushing you down a slippery slope. “Our research suggests that you might eat more if you have an impaired memory,” says Robinson, “so you end up in a vicious cycle where memory’s impaired by an unhealthy lifestyle, and then that impairment promotes over-consumption.”
He points out that we still have to be careful not to draw firm conclusions, though, until we have stronger proof that this vicious cycle exists and has a real effect on people’s health. “This idea makes sense intuitively, but there’s still no direct evidence for it.”
Staging an intervention
In the meantime, the finding that food memories and awareness can influence eating behaviour does at least suggest a novel approach to helping people lose weightand maintain a healthy BMI, and Robinson and his colleagues have developed a smartphone app that encourages people to eat more attentively.
“There’s now convincing evidence that attention and memory affect how much people eat, but this comes from laboratory studies,” says Robinson.“We’re trying to see if the lab findings translate to the real world. Our app encourages people to take photos of what they’re eating and answer questions about their meals, the idea being that creating vivid memories will make them less likely to overeat during the day.”
Cheke and her colleagues are now following up their initial findings by trying to pick apart the various factors that contribute to obesity, in order to try to determine which are likely to influence brain structure and function.
They are also using a smartphone app to collect information about people’s lifestyles and behaviour, and are recruiting volunteers in and around Cambridge to help them gather the data they need.
“One person may be obese because they don’t do any exercise and eat a lot of junk food,” says Cheke. “Another might be obese for genetic reasons but actually eat really well and do lots of exercise, and yet another may be obese because they have insulin problems.”
“We’re trying to get all these different variables to see the relative contribution, so we’ve got people out wearing activity monitors and filling food diaries for us. Doing studies like this is the only way we’ll be able to tease these things apart.”
Smoking leaves an “archaeological record” of the hundreds of DNA mutations it causes, scientists have discovered. Having sequenced thousands of tumour genomes, they found a 20-a-day smo…
Source: 150 mutations in each lung cell every year from smoking a pack a day
Smoking leaves an “archaeological record” of the hundreds of DNA mutations it causes, scientists have discovered.
Having sequenced thousands of tumour genomes, they found a 20-a-day smoker would rack up an average of 150 mutations in every lung cell each year.
The changes are permanent, and persist even if someone gives up smoking.
Researchers say analysing tumour DNA may help explain the underlying causes of other cancers.
Pamela Pugh, 69, was diagnosed with lung cancer in 2013. She started smoking aged 17 and quit in her early 50s.
But she said: “Even though I gave up many years ago, the effects of smoking caught up with me.
“Had I known as a teenager that smoking caused mutations which would stay with me for life then I would never had started”.
The study, in the journal Science, was carried out by an international group, including the Wellcome Trust Sanger Institute in Cambridgeshire and the Los Alamos National Laboratory in New Mexico.
The analysis shows a direct link between the number of cigarettes smoked in a lifetime and the number of mutations in tumour DNA.
The authors found that, on average, smoking a packet of cigarettes a day led to:
Joint lead author Prof Sir Mike Stratton, from the Wellcome Trust Sanger Institute, said: “The more mutations there are, the higher the chance that these will occur in the key genes that we call cancer genes, which convert a normal cell into a cancer cell.”
The researchers said that in tissues such as the lung, which are directly exposed to smoke, they could find the mutational signature of the chemicals in tobacco smoke, of which at least 60 are carcinogens.
However, they could not find this same pattern in tissues such as the bladder, which are not directly exposed.
Prof Stratton said in these organs smoking seemed to be accelerating a natural mutational process, but how it did this was “mysterious and complex”.
He said the same investigative approach could be used with other cancers where the underlying causes were less well understood.
“By looking in the genomes of the cancers, we will find the archaeological traces of past exposures which have been responsible for generating the cancers and that may potentially lead to prevention,” he said.
Dr David Gilligan, consultant oncologist at Papworth Hospital and Roy Castle Lung Foundation trustee, said: “For every 150 mutations in the cell each year, that is 150 opportunities for lung cancer to develop.
“Lung cancer has been at the bottom of the survival league for many years, but there are many exciting developments, including immunotherapy and genetically targeted drug treatments.”
Ms Pugh has received treatment at Papworth and Addenbrooke’s Hospitals in Cambridgeshire.
She has just spent six months on a trial of a drug that aims to disrupt the genes that drive the growth of lung cancer.
Participants in the Matrix trial have DNA from their tumours examined to check they have genes that may respond to the drug.
But a scan has shown the tumour in Ms Pugh’s right lung is growing, and she has had to leave the trial.
She will now undergo more chemotherapy and radiotherapy.
There are 35,000 deaths a year in the UK from lung cancer, and it is estimated that nine out of 10 cases are preventable.
Gene-based heart healthy recipe A personalized recipe recommendations to meet your dietary needs and preferences. Notes for Sunday and Saturday prep tips: Seek farmer’s market produce, cut fruits/v…
Source: Gene-based diet weekly schedule
Organic chicken or beef meat with bones, onions, garlic, carrots, celery, cilantro, yams, plantain banana, potatoes, wild salmon (broiled with rosemary and ginger), ginger, bell pepper, mushrooms,parsley,bay leaf,thyme
Make a broth from chicken or beef bones and divide into portion and store half of the liquid for future use in soups. Add more onions, carrots, celery and garlic and use a blender for easy digestion for seniors or babies. Be sure to throw bones before serving. Always start with sauteiing garlic and onions and meat before adding other ingredients and water for the soup. Broiled wild salmon with garlic, ginger, salt and onions, serve with brown rice and chicken or beef broth soup.
Saturday, Sunday and Wed
Omega 3, Vit E and D, Vit C, magnesium and calcium, potassium-rich, sulfur-rich
And more…..
Ingredient lists for shopping
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Health benefits of ingredients: Sulfur-rich foods, Vit C rich, zinc and Vitamin D, greens, rich in potassium, phosporous, omega 3 and greens
Ingredient lists for shopping
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Health benefits of ingredients: Ginger, onions and garlic, red and green colored whole foods, good fats (avocado and walnuts),
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Schedule tips: Served daily in small portions
Health benefits of ingredients: Lemon for cleansing, garlic, onions and sulfur rich (yellow) foods, more soups, less on raw foods (greens are half cooked), and all foods consumed between 11am to 8pm.
Ingredient lists for shopping
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Health benefits of ingredients: Yellow and red colored whole foods, pickled veggies, good protein (softer), whole foods (mostly cooked-not over cooked)
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Health benefits of ingredients: more on healthy carbs (yams), protein rich and equal amount of good fats (avocado, walnuts,others)
Please email any suggested recipes to motherhealth@gmail.com
Having a stroke can be a debilitating and life changing event for an individual and their family. Regardless of one’s age or family history, 90 percent of strokes are preventable. In honor of…
Having a stroke can be a debilitating and life changing event for an individual and their family. Regardless of one’s age or family history, 90 percent of strokes are preventable.
In honor of World Stroke Day on October 29, University of the Sciences Associate Professor of Physical Therapy Greg Thielman, PT, MSPT, EdD, is sharing tips for preventing stroke. Stroke is a disease that affects the arteries leading to and within the brain and is the fifth leading cause of death in the U.S., killing nearly 130,000 people a year.
“There are many things that you can do to modify your risk of a stroke,” said Dr. Thielman. “The effects of a stroke are so varied and can have great ramifications on a patient and their family that prevention is paramount.”
– Get moving: Being inactive, obese, or both can increase high blood pressure, diabetes, heart disease, and stroke. Getting out and active for a total of 30 minutes of exercise a day can reduce the risks. In patients who have already experienced a stroke, active circuit training may reduce the chance of another stroke, according to ongoing research conducted at USciences by Dr. Thielman.
– Be aware of Afib: Atrial Fibrulation (Afib) is an irregular or “racing” heartbeat that can cause blood to collect, thus forming a clot, which can travel to the brain and cause a stroke. Afib increases the risk of stroke by 500 percent, but nearly all Afib-related strokes are preventable. Check if you have Afib by doing a monthly pulse test. Checking each month will help you identify irregularities:
Step 1: Turn your left hand so your palm is facing up. Place the first two fingers of your right hand on the outer edge of your left wrist just below where you wrist and thumb meet
Step 2: Slide your fingers toward the center of your wrist and press your fingers down onto your wrist until you feel your pulse. Be careful not to press too hard. Your pulse should be easy to feel.
Step 3: Pay attention to the rhythm of your pulse for 60 seconds. Don’t count the beats. A regular pulse will feel even and consistent. An irregular pulse, a sign of Afib, will be erratic and unpredictable.
Afib is treatable with anti-coagulation treatments or blood thinners or other non-prescription treatments, such as electrical stimulation (cardioversion) to restore a regular heart rhythm.
– An apple a day: Eating a diet low in saturated fat, trans fat and cholesterol is important to heart and brain health. A diet that includes five or more servings of fruits and vegetables may reduce the risk of stroke.
–Quit smoking: Nicotine and carbon monoxide found in cigarettes produces several effects that damage the cerebrovascular system and can cause stroke. The risk of stroke is increased in women who smoke in combination with using oral contraceptives.
It is also important to know the signs of a stroke, said Dr. Thielman. The acronym FAST is an easy way to remember the sudden signs of stroke: Face drooping; arm weakness; speech difficulty; time to call 9-1-1.
“Taking the time to be aware of the risk factors of stroke is worth it in the long run for both you and your family,” he said.
University of the Sciences
Blueberries, and berries in general, are among foods labeled as “diabetes superfoods” by the American Association of Diabetes. Food science researchers at the University of Illinois hav…
Source: Alcohol-free berry wine could potentially reduce effects of Type 2 diabetes
Blueberries, and berries in general, are among foods labeled as “diabetes superfoods” by the American Association of Diabetes. Food science researchers at the University of Illinois have found that fermenting berries may improve their antidiabetic potential even more.
Recent research at the U of I includes the development of an alcohol-free blueberry-blackberry “wine” that those suffering from diabetes—who typically must avoid alcohol—can enjoy, while potentially reducing the effects of Type 2 diabetes.
“Unfortunately the number of people with diabetes is increasing astronomically around the world,” says Elvira de Mejia, a food chemist in the Department of Food Science and Human Nutrition at U of I. “There are 100 million people around the world who have diabetes and that is increasing, without counting the ones who may be pre-diabetic and not know it.”
Previous research has shown that dietary blueberries may play a role in reducing hyperglycemia in obese mice, therefore de Mejia and colleagues wanted to determine if a fermented, dealcoholized blueberry-blackberry beverage would enhance the potential of the phenolic compounds in the berries that are responsible for reducing diabetic markers.
A new study shows that the fermented berry beverage did reduce the development of obesity and blood glucose levels in mice on a high-fat diet.
The researchers had already determined that the berries, when fermented at low temperatures, resulted in an improved and higher concentration of anthocyanins. Anthocyanins, found in the pigments of fruits such as blueberries, grapes, and apples, have been shown to promote insulin sensitivity, decrease blood glucose levels in the blood, and enhance insulin secretion.
“We know that fruits, vegetables, cereals, legumes, and berries are good, but here we explain that after fermentation we improve and increase the concentration of these pigments [anthocyanins] and they are very high antioxidant components that benefit the body,” de Mejia says.
A previous cell culture study with the alcohol-free blueberry-blackberry wine, showed good results toward inhibiting enzymes related to glucose absorption
“In this in vivo study, as we increased the concentration of these anthocyanin-enriched extractions from blueberries and blackberries we saw an improvement in the uptake of glucose, meaning that the animals with the increased concentration were not as much in a state of hyperglycemia as the other animals.”
The beverage included a ratio of 70 percent fermented blackberries to 30 percent fermented blueberries. The berries were collected from varieties grown at U of I’s Dixon Springs Agricultural Research Station in southern Illinois. Alcohol was removed from the beverage by rotoevaporation and was replaced with water. Some of the sugars left over after fermentation were also removed in the process.
“We optimized the best ratio between blueberries and blackberries. Blackberries are very unique and I think that’s one of the reasons why we selected a high concentration of them in this study. Blackberries have a very specific profile of anthocyanins, and that was amazing at lowering the absorption of glucose in this case,” de Mejia says.
During the study, groups of mice with diet-induced obesity and hyperglycemia were given the fermented berry beverage or the beverage with higher or lower enriched concentrations of the anthocyanins (0.1x, 1x, or 2x). Another group was given sitagliptin, a commonly used medication for diabetes, and another group was given water only. All groups ate the same diet, calories, and amount of sugars otherwise.
While benefits were seen in all groups drinking the fermented beverage, de Mejia says the group on the highest concentration of anthocyanins (2x) showed the greatest results, comparable to what was observed in the group on sitagliptin. This included no increase in body weight, which de Mejia says was a surprise.
“That was not our objective really, we were just looking for markers of diabetes,” she says. “But it was very impressive to see.”
The researchers also observed that glucose was deposited into tissue more than absorbed by and present in the blood, as well. “You want to avoid high glucose in the blood stream, and you want uptake into muscle, liver, and organs, and to keep the level in plasma and blood normal. We saw a reduction of glucose in the blood with the beverage, even in the beverage before it was enhanced,” de Mejia says.
They also saw an effect on oxidative stress in the obese mice. “We saw that in the animals on 2x the enriched anthocyanins, the oxidative species went down, meaning they were kind of protected against oxidation. From that stand point, it was very positive looking at the oxidative stress of the animals because that can damage protein and DNA.”
Regarding the mechanism of action in reducing the diabetic effects, de Mejia says that the antioxidant power of the anthocyanins plays a very important role. “Markers of inflammation went down too. That’s very, very, important. They are correlated. With obesity, less fat means less inflammation, and less oxidative stress. I think it is more toward that pathway of lowering oxidative stress and inflammation and lowering fat. It was very surprising to us,” she adds.
Producing this berry wine, complete with the benefits of fermentation but without the alcohol, provides an opportunity for wine makers, de Mejia says.
“There are some bigger wineries/companies that are producing dealcoholized wine for diabetics, but from grapes. It is available in California, for example. I think the novelty of this work is mainly the combination of the blackberries and blueberries and the concentration of anthocyanins as part of the pigment. But it is perfectly doable and I hope that companies can see that there is a market. And it’s delicious,” she adds.
While the berry wine may not be able to replace medications for diabetics, de Mejia says it could help reduce the amount of medication needed; always under the doctor’s supervision and approval.
“There needs to be more studies to see how the anthocyanins work in the presence of medication, to see if they work synergistically, for example. Then, maybe, you could decrease the amount of the drug. All of these drugs for diabetes have adverse effects after so many years of use, even the safest ones.
“We need to consider diet, exercise, lowering body weight, and all the different strategies that the American Association of Diabetes recommends, and maybe in the long run, of course with approval of a physician, you could decrease the level of the drug to keep glucose under control.”
University of Illinois College of Agricultural, Consumer and Environmental Sciences (ACES)
Scientists from the Welcome Trust Sanger Institute and their collaborators have discovered 17 rare human genetic variations associated with risk factors for diseases such as heart disease and diabetes.
Reported today in Nature Genetics, the research shows how large scale genomic datasets can be used to help identify potential novel biological targets for studying cardiovascular and other diseases.
Genetics have been implicated in cardiovascular and blood diseases for some time, however as these are complex diseases, it is extremely difficult to find specific genetic causes. In this study, scientists studied the genomes of almost 36,000 healthy people with European ancestry, looking for rare genetic links to 20 known risk factors for disease, such as raised levels of cholesterol or haemoglobin in the blood.
Two previous large-scale projects provided the whole genome sequences needed: the UK10K project – a study of the genetic code of 10,000 people that aims to better understand links between rare genetic variations and disease; and the 1000 genome project. From this data, the scientists created a resource called a dense imputation panel, which is freely accessible to the scientific community. The panel holds so much detail that it can fill in the gaps or ‘impute’ data missing from lower resolution genetic studies.
The level of detail the imputation panel provides enabled the scientists to look at specific disease risk factors, and find 17 new genetic variants.
Of these, 16 would have been extremely difficult to find without the imputation panel data.
Professor Nicole Soranzo, joint senior author from the Sanger Institute, said: “The dense imputation panel used in this study allowed us to search for genetic variations that are much less frequent than ever before, but that individually explain a greater genetic risk. As efforts continue to characterise the genetic underpinnings of complex diseases, the methods we have developed in this study are expected to enable the next wave of discoveries of what causes these diseases, and how we might develop new treatments.”
Dr Valentina Iotchkova, first author from the Sanger Institute and the European Bioinformatics Institute said: “This is the first stage of a discovery process that is going to tell us more about the contribution genetics makes to complex human diseases. We looked at where in the genome these 17 new variants lie to see what that could tell us about biology; about the changes they make to the body and how that could make a person more or less susceptible to disease.”
The researchers then applied an analytical technique called fine-mapping to study hundreds of regions of the human genome that contain genetic risk factors for cardiometabolic disease. For 59 regions, they were able to narrow down the most likely genetic causes to small sets of genetic variants. Combining this fine mapping technique with biological data drilled it down even further and provided additional functional insight into the underlying biology.
Dr Paul Auer, joint senior author on the paper from the University of Wisconsin-Milwaukee: “Our study provides a refined method to use the panel alongside other analysis techniques to find rare variants that contribute to complex genetic conditions like heart disease or diabetes. We have also narrowed down the set of potentially causal variants to a small set of variants for further follow up. We focused on cardiometabolic traits but the panel covers the entire human genome so it could be used to glean a deeper understanding of genetic contributions to disease in any part of the human body.”
Wellcome Trust Sanger Institute
We put things into a container to keep them organized and safe. In cells, the nucleus has a similar role: keeping DNA protected and intact within an enveloping membrane. But a new study by Salk Ins…
Source: Problems with nuclear membrane play role in leukemia, heart disease and aging disorders
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