In order to use Medscape, your browser must be set to accept cookies delivered by the Medscape site.
Medscape uses cookies to customize the site based on the information we collect at registration. The cookies contain no personally identifiable information and have no effect once you leave the Medscape site.
See original here:
ACTRIMS Forum 2017 to Focus on Diet, Genetics, and the Microbiome in MS - Medscape
Self Regional Hall(Photo: Craig Mahaffey/Clemson University)
A new facility that will house the Clemson University Center for Human Genetics has opened at the Greenwood Genetic Center.
The 17,000-square-foot structure, named Self Regional Hall, will allowClemsons growing genetics program to collaborate closely withresearchers at the center and to focus on early diagnostic tools for autism, cognitive developmental disorders, cancer and rare metabolic disorders.
Opening Self Regional Hall means that we will be able to do even more to help children with genetic disordersand their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements, who has a child with special needs.
As you all know," he added, "an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.
The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty, officials said.
GCC director Dr. Steve Skinner said the facilityis the nextstep in a collaboration of more than 20 years.
"We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders, he said.
For more information about GGC, go towww.ggc.org.
Read or Share this story: http://grnol.co/2lcrenp
Read the original here:
New research facility opens at Greenwood Genetics Center - Greenville News
Mendels laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both mutations and the associated health condition. Bio 101.
In contrast to our bizarre new world of alternate facts, multiple interpretations, and both are true scenarios, science is both logical and rational. If an observation seems to counter dogma, then we investigate and get to the truth. Thats what happened for Millie and Hannah, whose stories illustrate two ways that genetic disease can seem to veer from the predictions of Mendels first law: that genes segregate, one copy from each parent into sperm and ova, and reunite at fertilization. (Ill get to embryo engineering at the end.)
Millies situation is increasingly common exome or genome sequencing of a child-parent trio reveals a new (de novo), dominant mutation in the child, causing a disease that is genetic but not inherited.
Hannahs situation is much rarer: inheriting a double dose of a mutation from one parent and no copies of the gene from the other.
MILLIE AND BAINBRIDGE-ROPERS SYNDROME
Millie McWilliams was born on September 2, 2005. At first she seemed healthy, lifting her head and rolling over when most babies do. But around 6 months, her head became shaky, like an infants. Then she stopped saying dada, recalled her mother Angela.
By Millies first birthday, her head shaking had become a strange, constant swaying. She couldnt crawl nor sit, had bouts of irritability and vomiting, and bit her hands and fingers.
In genetic diseases, odd habits and certain facial features can be clues, but none of the many tests, scans, and biopsies that Millie underwent lead to a diagnosis. Nor were her parents carriers of any known conditions that might explain her symptoms. Still, it was possible that Millie had an atypical presentation of a recessive condition so rare that it isnt included in test panels.
By age 6 Millie couldnt speak, was intellectually disabled, and was confined to a wheelchair, able to crawl only a few feet. Today she requires intensive home-based therapies. But Millie can communicate. She likes to look at what she wants, with an intense stare, said Angela. She loves country music and Beyonc, and every once in awhile something funny will happen and shell break into a big smile.
Millies pediatrician, Dr. Sarah Soden, suggested that trio genome sequencing, just beginning to be done at Childrens Mercy Kansas City(where the child already received care) as part of a long-term project, might help to assemble the clinical puzzle pieces to explain the worsening symptoms. So the little girl and her parents, Angela and Earl, had their genomes sequenced in December 2011. Analyzing the data took months, but Dr. Sodens team finally found a candidate mutation in the child but not her parents. However the gene, ASXL3, hadnt been linked to a childhood disease. Yet.
Its typically a matter of time for gene annotation to catch up to sequencing efforts and clinical clues. In February of 2013, a report in Genome Medicinedescribed four children with mutations in ASXL3 who had symptoms like Millies. Even her facial structures arched eyebrows, flared nostrils, and a high forehead matched those of the other children, as well as the hand-biting. They all haveBainbridge-Ropers syndrome.
One copy of Millies ASXL3 gene is missing two DNA bases, creating an inappropriate stop codon and shortening the encoded proteins. From this new glitch somehow arose the strange symptoms. Because neither Earl nor Angela has the mutation, it must have originated in either a sperm or an egg that went on to become Millie.
Since the paper about Bainbridge-Ropers syndrome was published three years ago, a few dozen individuals have been diagnosed and families have formed a support group and a Facebookpage. Thats huge. Even if a disease has no treatment, as is the case for Bainbridge-Ropers, families find comfort in reaching the end of the diagnostic odyssey and locating others. Said Angela, It was a relief to finally put a name on it and figure out what was actually going on with her, and then to understand that other families have this too. Ive been able to read about her diagnosis and what other kids are going through.
HANNAH AND GAN
Hannah Sames will be celebrating her 13th birthday next month, and is showing what may be early signs of strength in her muscles after receiving gene therapyinto her spinal cord last summer to treat giant axonal neuropathy (GAN).
When I first met Hannahs mom Lori in 2010, she told me that Hannah had inherited the exact same deletion mutation in the gigaxonin gene from her and her husband Matt. At that time, only a few dozen children were known to have the condition, and that number hasnt risen much. Because of the diseases rarity, I politely asked ifLori and Matt could be cousins but not know it. Shared ancestry seemed a more likely explanation for two identicalextremely rare gene variants occurring in the same child than the parents having the same length deletion just by chance. But no, Matt and Lori arent related.
The answer came just a few months ago: Hannah inherited both of her gigaxonin deletion mutations from Lori, and none from Matt. This is a very rare phenomenon called uniparental disomy (UPD), meaning two bodies from one parent. Like Millie, UPD seemingly defies Mendels law of segregation, with a pair of chromosomes (or their parts) coming solely from one parent, rather than one from each parent.
UPD happens during meiosis, the form of cell division that sculpts egg and sperm. And it requires two exceedingly rare events.
First, something goes wrong during the separation of one chromosome in which the DNA has replicated to form two chromatids, like two squiggly lines of DNA linked at the middle. Instead of those chromatids separating into different eggs, a pair went into the same egg, providing two copies of the chromosome 16 that bears the mutation, instead of the normal one. For a child with GAN to have resulted from Loris meiotic glitch, her double-dose egg must have met with a sperm cell that just happened to be missing chromosome 16 thats the second rare event. Or, more likely, the one-celled Hannah indeed had a chromosome 16 from her dad yet had two from her mom, an anomaly in chromosome assortment called nondisjunction. In fact an extra chromosome 16 is the most common trisomy(3 instead of 2 chromosomes) associated with miscarriage. But then Matts chromosome was lost, leaving two from Lori.
Neither Millies Bainbridge-Ropers syndrome nor Hannahs GAN actually counters Mendels law. Although Millie didnt inherit her mutation, if she were able to have children, she would pass it on with a probability of 1 in 2 to each child, just like the law predicts for dominant inheritance. Likewise, a child of Hannah would inherit one copy of the mutation that causes GAN when present in a double dose, just like the law predicts for recessive inheritance.
FORGET EDITING THE GERMLINE GENOME AND HELP SICK KIDS
As I was writing this post, the National Academy of Sciencesreleased its long-awaited tome on whats being called, among other things, embryonic engineering. Rather than banning editing of the human germline forever, the report foresees certain situations in which gene or genome editing, using CRISPR-Cas9 or some other variation on the theme, might be deployed to prevent disease.
WhileI think its great that the rare scenarios in which genome editing might be useful are finally being spelled out, instead of flaming fears of genetic enhancement spawning designer babies, my thinking aboutMillie and Hannah made me wonder why we would ever need to edit a genome to prevent disease in the first place. To quote the eminent mathematician from Jurassic Park, Ian Malcolm, Yeah, yeah, but your scientists were so preoccupied with whether or not they could that they didnt stop to think if they should.
Preventing illness in a future child of course isnt the same as designing theme park dinosaurs, but like Jurassic Parks technology, I cant imagine why genome editing at very early developmental stages is necessary.Even for an exceedingly rare family situation in which passing on an inherited disease is unavoidable, according to Mendels laws, there are alternatives, although they do not yield a biological child: replace, select, or adopt:
Instead of replacing errant genes early in prenatal development, or even before, I think we should focus instead on helping the Millies and Hannahs who are no longer fertilized ova or early embryos, but are kids. Thats already starting for Hannah, thanks to the gene therapy technology that has been gestating since 1990. Millies turn hasnt come yet.
So yes, lets set rules for editing the human germline but lets also consider whether this type of intervention will ever even be necessary in our overcrowded world.
See original here:
Defying Mendelian Genetics and Embryo Engineering - PLoS Blogs (blog)
Thursday February 16, 2017
As Canada's national opioid crisis continues, scientists at the University of British Columbia are trying to figure out why some people may be more susceptible to addiction at a genetic level.
"There have been a number of researchers who have taken patients or people who have drug abuse issues and compared their genes to people who do not have drug abuse issues," says Shernaz Bamji, a professor in the department of cellular and physiological sciences.
"And they have identified a number of mutations in many genes that actually help the brain communicate or cells within the brain communicate with one another. "
Her new research, published this week in thejournal Nature Neuroscience,suggests a stronger connection between genetics, biology andaddictionand may provide more clues on how to treat addiction in the future.
"The study adds to a growing body of work that suggests that addiction ... is not just a matter of being weak-willed,but really isa matter of genetics, biology and circumstances," says Bamji.
The UBC research involved injecting cocaine into genetically-modified mice to see if differences in their brains made them more susceptible to addictive behaviour than ordinary mice. The results surprised the whole team. (Darryl Dyck/Canadian Press)
Bamjitells The Current's guest host Laura Lynchhow this study could help with treating and even preventing addiction.
"[This study] explains to us differences in how we learn and different parts of the brain. And this has got impact down the line ... for humans because that might point to avenues of therapy," Bamji says
"Once we really, fully establish exactly how learning and synaptic plasticity in the area of the brain that's involved in addiction is different from learning in other areas of the brain."
As part of the research Bamji injected cocaine into genetically-modified mice to see if differences in their brains made them more susceptible to addictive behaviour than ordinary mice.
Bamji says the results were the exact opposite of what the team expected.
"Well it was, you know, completely counter-intuitive to what we thought was going to happen," says Bamji explaining that unlike the normal mice, the genetically-modified mice displayed less addictive behaviour even after multiple doses of cocaine over days.
According to Bamji, this reaction suggests that addiction may be more connected to genetics and biology than previously thought.
Bamji is excited about the potential practical uses of this research, but says clinical trials involving this research is years away.
"You have to be very cautious when you're only interpreting genetic data. You have to go back and do the experiments that we are doing to validate that these particular genes are indeed involved in whatever disease that you're talking about."
Listen to the full conversation at the top of this web post.
This segment was produced by The Current's Liz Hoath.
See more here:
New UBC research suggests stronger connection between addiction and genetics - CBC.ca
February 16, 2017 by Andy Fell Honey bees provide 'pollination services' worth billions of dollars to US agriculture. Understanding honey bee populations requires understanding their origins in the Middle East and Africa. New work from UC Davis and UC Berkeley clears up some of the confusion around honey bee origins. Image: Honey bees collecting pollen Credit: Kathy Keatley Garvey
Where do honey bees come from? A new study from researchers at the University of California, Davis and UC Berkeley clears some of the fog around honey bee origins. The work could be useful in breeding bees resistant to disease or pesticides.
UC Davis postdoctoral researcher Julie Cridland is working with Santiago Ramirez, assistant professor of evolution and ecology at UC Davis, and Neil Tsutsui, professor of environmental science, policy and management at UC Berkeley, to understand the population structure of honey bees (Apis mellifera) in California. Pollination by honey bees is essential to major California crops, such as almonds. Across the U.S., the value of "pollination services" from bees has been estimated as high as $14 billion.
"We're trying to understand how California honey bee populations have changed over time, which of course has implications for agriculture," Ramirez said.
To understand California bees, the researchers realized that they first needed to better understand honey bee populations in their native range in the Old World.
"We kind of fell into this project a little bit by accident," Cridland said. "Initially we were looking at the data as a preliminary to other analyses, and we noticed some patterns that weren't previously in the literature."
The new study combines two large existing databases to provide the most comprehensive sampling yet of honey bees in Africa, the Middle East and Europe.
Unrelated Bee Lineages in Close Proximity
Previously, researchers had assumed an origin for honey bees in north-east Africa or the Middle East. But the situation turns out to be more complicated than that, Cridland said.
"You might think that bees that are geographically close are also genetically related, but we found a number of divergent lineages across north-east Africa and the Middle East," she said.
There are two major lineages of honey bees in Europe - C, "Central European," including Italy and Austria and M, including Western European populations from Spain to Norway - which give rise to most of the honey bees used in apiculture worldwide. But although C and M lineage bees exist side by side in Europe and can easily hybridize, they are genetically distinct and arrived in different parts of the world at different times.
M lineage bees were the first to be brought to north America, in 1622. The more docile C lineage bees came later, and today many California bees are from the C lineage, but there is still a huge amount of genetic diversity, Ramirez said.
"You can't understand the relationships among bee populations in California without understanding the populations they come from," Cridland said.
In the Middle East, the O lineage hails from Turkey and Jordan, and Y from Saudia Arabia and Yemen. The main African lineage is designated A.
At this point, the researchers cannot identify a single point of origin for honey bees, but the new work does clear up some confusion from earlier studies, they said. In some cases, diverged lineages that happen to be close to each other have mixed again. Previous, more limited studies have sampled those secondarily mixed populations, giving confusing results.
"We're not making any strong claim about knowing the precise origin," Cridland said. "What we're trying to do is talk about a scientific problem, disentangling these relationships between lineages, the genetic relationships from the geography."
The study is published online in the journal Genome Biology and Evolution.
Explore further: Bee rescue mounted after hospital breaks out in hives
More information: Julie M. Cridland et al, The complex demographic history and evolutionary origin of the western honey bee, Apis mellifera, Genome Biology and Evolution (2017). DOI: 10.1093/gbe/evx009
It was a sticky situation.
Agricultural demand for pollination is growing more quickly than the supply of honey bees, the dominant species managed for crop pollination. Increasing the efficiency of pollination represents a way of increasing crop yield ...
In a new study published in the Journal of Apicultural Research, scientists have compared the ability of two strains of honey bees to defend themselves against the parasitic mite varroa by grooming the mites from their bodies.
Scientists from The University of Western Australia's Centre for Integrative Bee Research (CIBER) tagged 200 honey bee workers to find out how a highly-contagious fungal parasite (Nosema apis) impacts their ability to pollinate ...
A study conducted by biologists at UC San Diego has found that the Africanized honey beean aggressive hybrid of the European honey beeis continuing to expand its range northward since its introduction into Southern ...
For the last 30 years, Drummond, professor of insect ecology at the University of Maine, has studied the biology, ecology, disease susceptibility and pesticide exposure of Maine's 275 native species of bees, as well as the ...
Facial recognition is a biometricsystem that identifies or verifies a person from a digital image. It's used to find criminals, identify passport and driver's license fraud, and catch shoplifters. But can it be used to ...
A smart trap for mosquitoes? A new high-tech version is promising to catch the bloodsuckers while letting friendlier insects escapeand even record the exact weather conditions when different species emerge to bite.
Where do honey bees come from? A new study from researchers at the University of California, Davis and UC Berkeley clears some of the fog around honey bee origins. The work could be useful in breeding bees resistant to disease ...
Timothy Blake, a postdoctoral fellow in the Waymouth lab, was hard at work on a fantastical interdisciplinary experiment. He and his fellow researchers were refining compounds that would carry instructions for assembling ...
A new WCS study in India shows that three carnivorestigers, leopards, and dholes (Asian wild dog)seemingly in direct competition with one other, are living side by side with surprisingly little conflict. Usually, big ...
A University of Michigan biologist combined the techniques of "resurrection ecology" with the study of dated lake sediments to examine evolutionary responses to heavy-metal contamination over the past 75 years.
Please sign in to add a comment. Registration is free, and takes less than a minute. Read more
See the original post here:
Honey bee genetics sheds light on bee origins - Phys.Org
An Asian American born in Connecticut in 2009 could expect to live89.1 years. An African American, on the other hand, couldexpect to live 77.8 years. Its seldom surprising tosee large discrepancieswhen comparing life expectancies indeveloped and developing nations, considering the vast differences in availablehealth care. But how do we explain such a wide variance between two populations or ethnic groups living in the same region?
The complicated relationship between population, ethnicity and raceand how it impacts our health involves a complex equation offactors,includingmedicine,economics, psychology, anthropology, sociology andgeography. But it also seems clear that there are so-called race-related genetic factors in play .
Cultures and health behaviors
At this point in the history of medicine, there are a handful of behaviors withwell-established health impacts onour health. Among this is tobacco smoking,which has been linked unequivocallyto lung cancer and chronic obstructive pulmonary disease (COPD). Its also associated withcardiovascular and cerebrovascular conditions (leading to high blood pressure, atherosclerosis, heart disease, and strokes), and a host of non-pulmonary cancers. Yet different ethnic groups react differently to prolonged exposure.
Consider that therate of smoking among Native Americans is higher than for any other group in North America, at 26.1 percent, according toAmerican Lung Association. At the other end of the smoking spectrum areAsian Americans, at 9.6 percent, andHispanics at12.1 percent. In the middle areAfrican Americans, 18.3 percent, andCaucasians,19.4 percent.
Source: American Lung Association
Based on smoking rates alone, youd expect Asians and Latinos to have lower lung cancer rates, and they do. However, youd also expect Native Americans to have higher lung cancer rates. Yet their lung cancer rates are only slightly worse thanthose of Latinos. Strikingly, the ethnic group with the highest lung cancer rate is African Americans, according to the Center for Disease Control (CDC).
A similar phenomenon is seen inalcohol use. According to the National Institute of Alcohol Abuse and Alcoholism (NIAAA), the most common drinkers are white males, 74.27 percent, while Asian-American women were the least common, at 36.11 percent. In terms of daily heavy drinking, the highest rates were recorded among Hispanic males, at 40.48 percent, while Asian American men had the lowest rate, at 18.84 percent. Alcohol abuse relates to liver disease, nutritional disorders, and various cancers, but as with smoking the disease rates among ethnic groups do not correlate precisely with consumption.
Black men (25.81 percent)and women (19.02 percent), for example, reported lower rates of daily heavy drinking, when compared to white men and women. Yet, African Americans have a higher risk of developing alcohol-related liver disease, according to the National Institutes of Health.
Health genetics
With majorkillers like heart disease and stroke,there are a multitude of genetic factors, making forcomplex relationships between genetics and disease.For example, despite having a relatively high risk of developing cardiovascular disease, Latinos have alower risk of actually dying from the disease. Thus, studies are constantly underway to examine genetic risk factors and markers. African Americans have a notoriously high rate of high blood pressure compared with other ethnic groups, and for decades there has been a debate regarding whether genetic factors or environmental factors are more important.
What about discrimination?
A potentially troubling possibility has emerged from a University of Florida study that was published in December 2016in thejournal PLOS ONE. By interviewing 157 African American subjects in creative ways, researchers were able to show a relationship between the feeling of discrimination and high blood pressure. The study pointed toeight genetic variants of five genespreviously known to be associated with cardiovascular disease. The cause ofhigh blood pressure iscomplex, given that its related both to physical phenomena such as factors controlling how tightly blood vessels squeeze, as well as psychological factors, since blood pressure rises in nearly everyone when they become anxious or stressed.
Putting all of these factors into a coherent picture of how diseases are generated appears to be a daunting task. Year by year, month by month, the science community is inundated with new data, especiallyfrom genomic studies. Various new instruments are in use too, and yet, when the goal is to assess anything related toethnicity or race, the task grows progressively more difficult.
David Warmflash is an astrobiologist, physician and science writer. Follow @CosmicEvolution to read what he is saying on Twitter.
View original post here:
Race, genetics and health: Our ancestry both limits and exacerbates ... - Genetic Literacy Project
Illustration: Angelica Alzona/Gizmodo
Recently, Vitaliy Husar received results from a DNA screening that changed his life. It wasnt a gene that suggested a high likelihood of cancer or a shocking revelation about his family tree. It was his diet. It was all wrong.
That was, at least, according to DNA Lifestyle Coach, a startup that offers consumers advice on diet, exercise and other aspects of daily life based on genetics alone. Husar, a 38-year-old telecom salesman, had spent most of his life eating the sort of Eastern European fare typical of his native Ukraine: lots of meat, potatoes, salt and saturated fats. DNA Lifestyle Coach suggested his body might appreciate a more Mediterranean diet instead.
They show you which genes are linked to what traits, and link you to the research, Husar told Gizmodo. There is science behind it.
DNA Lifestyle Coach isnt the only company hoping to turn our genetics into a lifestyle product. In the past decade, DNA sequencing has gotten really, really cheap, positioning genetics to become the next big consumer health craze. The sales pitcha roadmap for life encoded in your very own DNAcan be hard to resist. But scientists are skeptical that weve decrypted enough about the human genome to turn strings of As, Ts, Cs and Gs into useful personalized lifestyle advice.
Indeed, that lifestyle advice has a tendency to sound more like it was divined from a health-conscious oracle than from actual science. Take, for instance, DNA Lifestyle Coachs recommendation that one client drink 750ml of cloudy apple juice everyday to lose body fat.
Millions of people have had genotyping done, but few people have had their whole genome sequenced, Eric Topol, a geneticist at Scripps in San Diego, told Gizmodo. Most consumer DNA testing companies, like 23andMe, offer genotyping, which examines small snippets of DNA for well-studied variations. Genome sequencing, on the other hand, decodes a persons entire genetic makeup. In many cases, there just isnt enough science concerning the genes in question to accurately predict, say, whether you should steer clear of carbs.
We need billions of people to get their genome sequenced to be able to give people information like what kind of diet to follow, Topol said.
Husar stumbled upon the Kickstarter page for DNA Lifestyle Coach after getting his DNA tested via 23andMe a few years earlier. He wondered whether there was more information to be gleaned from his results. So six months ago, he downloaded his 23andMe data and uploaded it to DNA Lifestyle Coach. Each test costs between $60 and $70.
Im always looking for some ways to learn about my health, myself, my body, said Husar, who contributed to the companys Kickstarter back in 2015.
The advice he got back was incredibly specific. According to DNA Lifestyle Coach, he needed to start taking supplements of vitamins B12, D and E. He needed more iodine in his diet, and a lot less sodium. DNA Lifestyle Coach recommended that 55 percent of his fat consumption come from monounsaturated fats like olive oil, rather than the sunflower oil popular in Ukraine. Oh, and he needed to change his workout to focus more on endurance and less on speed and power.
He switched up his workout and his diet, and added vitamin supplements to his daily routine. The results, he found, were hard to dispute: He lost six pounds, and for the first time in memory didnt spend Kievs long harsh winter stuck with a bad case of the winter blues.
For now, DNA Lifestyle Coachs interpretation engine only offers consumers advice on diet and exercise, but in the coming months it plans to roll out genetics-based guidance on skin care, dental care and stress management. The company wants to tell you what SPF of sunscreen to use to decrease your risk of cancer, and which beauty products to use to delay the visible effects of aging. Its founders told Gizmodo that eventually they envision being able to offer their customers recipes for specific meals to whip up for dinner, optimized for their genetic makeup.
DNA Lifestyle Coach joins a growing list of technology companies attempting to spin DNA testing results into a must-have product. The DNA sequencing company Helix plans to launch an app store for genetics later this year. One of its partners is Vinome, a wine club that for $149 a quarter sends you wine selected based on your DNA. Orig3n offers genetics-based assessments of fitness, mental health, skin, nutrition and evenobviously unscientificwhich superpower you are most likely to have. The CEO of the health-focused Veritas Genetics told Gizmodo that the company hopes to create a Netflix for genetics, where consumers pay for a subscription to receive updated information on their genome for the rest of their life.
Its not going to happen overnight, but we believe that DNA will become an integrated part of everyday life, Helix co-founder Justin Kao told Gizmodo. The same way people use data to determine which movie to see or which restaurant to eat at, people will one day use their own DNA data to help guide everyday experiences.
Few would debate that our capability to decipher information from our genetic code is getting a lot more sophisticated. Just a decade ago, a bargain-basement deal on whole genome sequencing would run you $300,000. Recently, DNA sequencing company Illumina announced plans do it for just $100 within the next decade. Every day, researchers discover new links between our health, our environment, and our genetics.
But much of this research is still preliminary, and many of the studies are small. DNA Lifestyle Coachs advice to drink 750ml of cloudy apple juice for fat loss, for instance, stemmed from a study of just 68 non-smoking men. Those results, while promising, still require much larger studies to confirm. Suggesting that the same regiment might work for consumers is a little like reading the leaves at the bottom of a tea cupextracting meaning from patterns that arent necessarily there.
Not to mention that the information our genes offer up is probabilistic, not deterministic. You may have run into this if youve done an ancestry DNA test and received results indicating that your parents are only very likely your parents. More often than not, many genes contribute to a specific traitlike tasteand how those genes all interact is complex and poorly understood web. To complicate matters further, the expression of genes is often impacted by our behavior and the environment. If you have a gene that raises the risk for skin cancer, but live in overcast Seattle and dont ever go outside, your chances of getting cancer are probably slimmer than someone who lives in Los Angeles and spends every day in the sun without slapping on some sunblock.
DNA Lifestyle Coach, though, wants to offer its customers simple, actionable advice, and so omits all this confusing gray area from its results. Instead, the recommendations are clear and specific, from how much Vitamin A to take to how many cups of coffee a day are most beneficial. Its a bit reminiscent of a long-term weather forecast spitting out predictions for sunshine or rain 30 days in advanceyes, such predictions can be made, but most meteorologists will tell you theyre borderline useless.
We use a series of algorithms which rank studies by reliability of results, the company website explains. Studies are then analyzed for their relation to real-world dietary and nutritional needs, and the user is given straightforward recommendations.
Pressed on the questionable nature of that apple juice study, DNA Lifestyle Coachs founders responded that the data is not as strong as the the other studies it pulls from. But it is a harmless recommendation, the company said.
When asked whether it was possible that DNA Lifestyle Coachs claims might have any validity, Topol laughed.
One day, he said, its likely well have some genomic insight into what types of diets are better suited for certain people. But, he added, its unlikely that we will ever accurately predict the sort of granular details DNA Lifestyle Coach hopes to, like exactly what SPF of sunscreen you should be using on your skin.
There are limits, he said.
DNA Lifestyle Coach was founded by a chemist and a business consultant who met over an interest in the biohacker scene, a subculture focused on ideas like DIY life extension. The company that runs DNA Lifestyle Coach, Titanovo, actually started as a blog. The name is meant to invoke superhumans. Its like the rise of the titans, said Corey McCarren, the business side of the duo, when Gizmodo met with him at a health moonshots conference last month.
Their first foray into genetics was a home telomere length test, which launched in 2015 with help of $10,000 raised on Indiegogo. Telomeres are little bits of DNA at the end of chromosomes. Each time a cell divides, its telomeres get shorter, and so they provide some insight into our biological age. Titanovo wanted to develop an easy test to tell consumers how long or short their telomeres were. The company initially pitched the test as a way to measure both longevity and health, but eventually was forced to clarify for customers that it is not at present possible to discern biological age from telomeres alone, after receiving emails from customers panicked about their own short telomeres.
Instead, they suggest, the $150 telomere testing kit is a way to discern information about health. One finding from their data: vegetarians and vegans who use the service have, on average, longer telomeres. The company recommends going veg if you find your telomeres are in need of a boost. Even this, however, seems like a stretch: data on telomere length, like genomics, is not quite ready for public consumption. For every paper that finds a potential cause of telomere shorting, theres one that finds the opposite effect.
Undaunted by the rocky rollout of its telomere testing kit, Titanovo is now pressing forward into genomics. The Kickstarter campaign for DNA Lifestyle Coach wound up raising more than $30,000. The company says it now has more than 1,000 customers who either pay $215 for the full DNA testing kit along with one panel, or the $60 to $70 to run panels with data from services like 23andMe.
While it might seem harmless to take part in a little science-based superstition and find out whether youre more Batman or Superman, such indulgence can have serious side effects. For years, weve been sold on DNA as the answer to almost everything. Decode the human genome, and decode the mysteries of the human spirit. This gives companies like DNA Lifestyle Coach dangerous authority. If your DNA testing results say youre prone to obesity, why spend time exercising and eating right when your health seems beyond your control?
Joshua Knowles, a Stanford Cardiologist who studies applied genetics, told Gizmodo that he recently had a patient who was unwilling to try a certain class of drug based on their genotyping, even though they had a high risk of heart disease that might be drastically reduced by use of those medications.
Were doing a poor job of educating patients on risk-benefit analysis, Knowles said. In some cases, when it comes to genetics, were placing a lot of weight on some things that have very small overall effects.
In 2008, an European Journal of Human Geneticsarticleargued for better regulatory control of direct-to-consumer genetic testing, asking whether in the end, tests ran the risk of being little better than horoscopes that told people information they were already predisposed to believe.
It was these kinds of concerns that moved the Food and Drug Administration to crack down on 23andMe in 2013, ordering the company to cease providing analyses of peoples risk factors for disease until the tests accuracy could be validated. The company now provides assessments on a small fraction of 254 diseases and conditions it once scanned forit still processes the same information, but is restricted in what it can tell consumers. Where it once reported health risks alongside specific tips and guidance on how to reduce them, it now reports on your carrier status, framing the results in terms of whether you might pass down a specific genetic variant to your offspring rather that whether you might develop the condition yourself.
Companies like DNA Lifestyle Coach have moved in offer the sort of tips 23andMe no longer can.
We have much too many companies doing nutrigenomics and other unproven things like that, said Topol. That can give consumer genomics a really bad name. Thats unfortunate.
Kao, of Helix, said that educating consumers on what these results really mean alongside actionable information will be the industrys greatest challengeand what distinguishes it from just another pseudoscientific health fad.
Its typically been very hard to interpret DNA information, Kao said. DNA is most valuable with context, rather than as the only piece of the puzzle.
The industry, he argues, is young, but will get more accurate the more consumers use DNA-testing products. Just as Netflix improves the more you rate shows you watch, so would many DNA-based products, he said.
Husar told Gizmodo that he got blood work done to confirm what he could about his DNA Lifestyle Coach results. The tests indeed confirmed that he was low on vitamins B12, D and E, as DNA Lifestyle Coach had suggested. Of course, Hussar still cant be sure his genes are responsible. It could be that hes simply not eating enough meat or cheese. Still, the blood work was enough to convince Husar that DNA Lifestyle Coachs analysis was worth taking seriously. And, for the most part, the results felt rightit made sense that a boost of vitamin B12 might counteract the emotional toll of winter, and that cutting out potatoes and saturated fats might be benefical.
The testss fitness results though, he did find a tad shocking.
I was really surprised to learn that Im not fast or powerful, but I have a high endurance, he said. I can do Iron Man. This is what my genetics say. Im trying to change my workout to see if thats true.
Husar may never be sure whether the advice divined from his genetics was really helpful. He can only hope it doesnt hurt.
The rest is here:
The Next Pseudoscience Health Craze Is All About Genetics - Gizmodo
Women who have a strong family history of breast or ovarian cancer are more likely to be affected by cancer of the ovaries, fallopian tube, or peritoneal cavity. This is thought to be due to a mutation in one of the genes that are involved in the regulation of cell growth and replication in these areas, which can be inherited from the parents.
It is estimated the 10-15% of ovarian, fallopian tube, or peritoneal cancers are associated with an inherited genetic mutation. The remaining majority of cases of cancer are linked to a genetic mutation that is acquired by the individual in their lifetime.
The BReast CAncer 1 (BRCA1) and BReast CAncer 2 (BRCA2) genes have been identified as genes that are linked to an increased risk of the development of both breast cancer and ovarian cancer. Everybody possesses these genes in their body because they play an important role in the regulation of cell growth in the breasts and ovaries, but a mutation in one or both of these genes increases the likelihood that an individual will be affected by breast or ovarian cancer.
A woman with a mutation in the BRCA2 gene has a lifetime risk of 10-20% of developing ovarian cancer. This is approximately ten times higher that the risk of an average woman, which is 1-2%.
Other genes that have been linked to an increased risk of ovarian cancer include:
There are various genetic conditions that are linked to an increased risk of ovarian cancer development. These include:
For women who have a raised risk of ovarian cancer due to the inheritance of a gene that is linked to causing the condition, there are several steps that can be taken to reduce their risk.
For example, some women may choose to have their ovaries and fallopian tubes to be removed. This helps to reduce the risk of cancer in these areas, as well as the risk of some types of breast cancer due to decreased production of estrogen, which usually occurs in the ovaries. The risk of ovarian cancer can be reduced by 70-96% and the risk of breast cancer by 40-70%.
However, this surgical procedure should not be considered unless a woman is certain that she does not wish to bear any children in the future because the removal of the ovaries will render her infertile.
Genetic testing is available for women with a strong family history of breast or ovarian cancer to detect mutations in the genes that are known to raise the risk of cancer. It is important for patients to be aware of the benefits and negative aspects of being tested before they undergo the examination.
Reviewed by Susha Cheriyedath, MSc
PHOENIX Genetics may hold the key to treating heart disease, according to a University of Arizona professor.
Scientists have identified genetic markers that can predict if a person is likely to be diagnosed with heart disease, which is the No. 1 killer for both men and women nationwide.
University of Arizona professorDr. Robert Roberts said since genetic markers do not change throughout a persons life, this new discovery is so far the most accurate method ofpredicting heart disease.
Whileheart disease has been proven to be preventable by decreasing conventional risk factors, such as quitting smoking,about 50 percent of heart disease risk is in a persons genes.
Scientists are developing a genetic test that can find these markers using either blood or saliva, Roberts said, adding in the next few years, they will be able to treat people without symptoms who have genetic risks.
Genetic testing will tell us if you are at risk, he said. If you are at risk [then] we can start treatment immediately.
Go here to see the original:
University of Arizona professor: Genetics could help treat heart disease - KTAR.com
GREENWOOD Self Regional Hall, a new 17,000-square-foot, state-of-the art facility that will house the Clemson University Center for Human Genetics, has opened on the campus of the Greenwood Genetic Center.
Self Regional Hall, a new 17,000-square-foot, state-of-the art facility that will house the Clemson University Center for Human Genetics. Image Credit: Craig Mahaffey / Clemson University
The facility will enable Clemsons growing genetics program to collaborate closely with the long tradition of clinical and research excellence at the Greenwood Genetic Center, combining basic science and clinical care. The center will initially focus on discovering and developing early diagnostic tools and therapies for autism, cognitive developmental disorders, oncology and lysosomal disorders.
Opening Self Regional Hall means that we will be able to do even more to help children with genetic disorders, and their families, and to educate graduate students who will go out into the world and make their own impact, said Clemson University President James P. Clements.
As the parent of a child with special needs the kind of research that you are doing here is especially meaningful and important to me and my family, Clements said during the event. As you all know, an early diagnosis can make a huge difference for a child and their family because the earlier you can figure out what a child needs the earlier you can intervene and begin treatment.
Jim Pfeiffer (left), president and CEO of Regional Healthcare, and Clemson President James P. Clements unveil a commemorative plaque. Image Credit: Craig Mahaffey / Clemson University
According to the Centers for Disease Control and Prevention, one in six children between the ages of 3 and 17, roughly 15 percent, suffers from a developmental disorder.
Self Regional Hall is a state-of-the-art facility that provides the resources our scientists need to understand the genetic underpinnings of disorders, said Mark Leising, interim dean of the College of Science at Clemson. This facility, and its proximity to the Greenwood Genetic Center, elevates our ability to attract the brightest scientific talent to South Carolina and enhances our efforts to tackle genetic disorders.
The building will house eight laboratories and several classrooms, conference rooms and offices for graduate students and faculty.
The facilitys name recognizes the ongoing support from Self Regional Healthcare, a healthcare system in Upstate South Carolina that has grown from the philanthropy of the late James P. Self, a textile magnate who founded Self Memorial Hospital in 1951.
The ribbon-cutting ceremony was originally scheduled for September 2016, but was delayed because of the death of state Sen. John Drummond, an ardent supporter of the Greenwood Genetic Center who helped bring Self Regional Hall to fruition.
Image Credit: Craig Mahaffey / Clemson University
Self Regional Healthcares vision is to provide superior care, experience and value. This vision includes affording our patients with access to cutting-edge technology and the latest in healthcare innovation and genomic medicine, without a doubt, is the future of healthcare, said Jim Pfeiffer, president and CEO of Self Regional Healthcare. The research and discoveries that will originate from this center will provide new options for those individuals facing intellectual and developmental disabilities, and will provide our organization with innovative capabilities and treatment options for our patients.
We are pleased to welcome Clemson University to Greenwood as the first academic partner on our Partnership Campus, added Dr. Steve Skinner, director of the Greenwood Genetic Center. This is the next great step in a collaboration that has been developing over the past 20-plus years. We look forward to our joint efforts with both Clemson and Self Regional Healthcare to advance the research and discoveries that will increase our understanding and treatment of human genetic disorders.
END
Greenwood Genetic CenterThe Greenwood Genetic Center (GGC), founded in 1974, is a nonprofit organization advancing the field of medical genetics and caring for families impacted by genetic disease and birth defects. At its home campus in Greenwood, South Carolina, a talented team of physicians and scientists provides clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.GGCs faculty and staff are committed to the goal of developing preventive and curative therapies for the individuals and families they serve.GGC extends its reach as a resource to all residents of South Carolina with satellite offices in Charleston, Columbia, Florence and Greenville. For more information about GGC, please visitwww.ggc.org.
Original post:
Clemson Center for Human Genetics unveils new facility on Greenwood Genetic Center campus - Clemson Newsstand