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Autism genetics, explained | Spectrum | Autism Research News – Spectrum

Posted: July 1, 2017 at 6:43 pm

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Researchers have known that genes contribute to autism since the 1970s, when a team found that identical twins often share the condition. Since then, scientists have been racking up potential genetic culprits in autism, a process that DNA-decoding technologies have accelerated in the past decade.

As this work has progressed, scientists have unearthed a variety of types of genetic changes that can underlie autism. The more scientists dig into DNA, the more intricate its contribution to autism seems to be.

Since the first autism twin study in 1977, several teams have compared autism rates in twins and shown that autism is highly heritable. When one identical twin has autism, there is about an 80 percent chance that the other twin has it too. The corresponding rate for fraternal twins is around 40 percent.

However, genetics clearly does not account for all autism risk. Environmental factors also contribute to the condition although researchers disagree on the relative contributions of genes and environment. Some environmental risk factors for autism, such as exposure to a maternal immune response in the womb or complications during birth, may work with genetic factors to produce autism or intensify its features.

Genetics in motion: The secret to understanding autism lies largely in our DNA.

Not really. There are several conditions associated with autism that stem from mutations in a single gene, including fragile X and Rett syndromes. But less than 1 percent of non-syndromic cases of autism stem from mutations in any single gene. So far, at least, there is no such thing as an autism gene meaning that no gene is consistently mutated in every person with autism. There also does not seem to be any gene that causes autism every time it is mutated.

Still, the list of genes implicated in autism is growing. Researchers have tallied 65 genes they consider strongly linked to autism, and more than 200 others that have weaker ties. Many of these genes are important for communication between neurons or control the expression of other genes.

Changes, or mutations, in the DNA of these genes can lead to autism. Some mutations affect a single DNA base pair, or letter. In fact, everyone has thousands of these genetic variants. A variant that is found in 1 percent or more of the population is considered common and is called a single nucleotide polymorphism, or SNP.

Common variants typically have subtle effects and may work together to contribute to autism. Rare variants, which are found in less than 1 percent of people, tend to have stronger effects. Many of the mutations linked to autism so far have been rare. It is significantly more difficult to find common variants for autism risk, although some studies are underway.

Other changes, known as copy number variations (CNVs), show up as deletions or duplications of long stretches of DNA and often include many genes.

But mutations that contribute to autism are probably not all in genes, which make up less than 2 percent of the genome. Researchers are trying to wade into the remaining 98 percent of the genome to look for irregularities associated with autism. So far, these regions are poorly understood.

No. At the molecular level, the effects of mutations may differ, even among SNPs. Mutations can be either harmful or benign, depending on how much they alter the corresponding proteins function. A missense mutation, for example, swaps one amino acid in the protein for another. If the substitution doesnt significantly change the protein, it is likely to be benign. A nonsense mutation, on the other hand, inserts a stop sign within a gene, causing protein production to halt prematurely. The resulting protein is too short and functions poorly, if at all.

Most mutations are inherited from parents, and they can be common or rare. Mutations can also arise spontaneously in an egg or sperm, and so are found only in the child and not in her parents. Researchers can find these rare de novo mutations by comparing the DNA sequences of people who have autism with those of their unaffected family members. Spontaneous mutations that arise after conception are usually mosaic, meaning they affect only some of the cells in the body.

Perhaps. Girls with autism seem to have more mutations than do boys with the condition. And boys with autism sometimes inherit their mutations from unaffected mothers. Together, these results suggest that girls may be somehow resistant to mutations that contribute to autism and need a bigger genetic hit to have the condition.

Clinicians routinely screen the chromosomes of a developing baby to identify large chromosomal abnormalities, including CNVs. There are prenatal genetic tests for some syndromes associated with autism, such as fragile X syndrome. But even if a developing baby has these rare mutations, there is no way to know for sure whether he will later be diagnosed with autism.

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After vote, Accelerated Genetics slated to merge – La Crosse Tribune

Posted: July 1, 2017 at 6:43 pm

Accelerated Genetics and Select Sires Inc. will be a merged cooperative.

According to a news release, the merger follows a June 22 vote by Accelerate Genetics officials. The vote green-lights an agreement recommended by both companies boards of directors. The smaller Accelerated Genetics has reported financial difficulty in the past. The larger Ohio-based Select Sires will acquire Accelerated Genetics assets, including a bull farm in Westby.

Both companies specialize in artificial insemination of cattle. The companies have an established working relationship that started in 2001 when the companies allied in international markets.

Accelerated Genetics has been searching for a partner who could enhance the business and move it forward, said Scott Dahlk, Accelerated Genetics Board chairman. Joining forces with Select Sires is a positive move for both the member-owners and producers worldwide.

The company said Accelerated Genetics assets, employees and sales representatives will be integrated into the organization. Both companies operate under the cooperative-business model and share similar structures, according to the company.

By working together we will be stronger, said David Thorbahn, Select Sires president and chief executive officer. The value and expertise gained by joining the people from both organizations allow us to offer our customers a broader genetics program in addition to an outstanding animal health product line. Its very exciting to work together, enabling our organizations the ability to expand genetic research, technical support, service, and programs with people who are passionate about the dairy and beef industries.

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How culture, passion and genetics are fueling a Nigerian takeover of US sports – CBS sports.com (blog)

Posted: July 1, 2017 at 6:43 pm

It wasn't just coincidence to Bobby Burton. The 47-year-old Houston native had been covering college football recruiting for more than 20 years. With increased frequency, the best players he saw were more Americanized than American.

Burton lives in a Houston recruiting hotbed, but what he increasingly saw created a recruiting quandary. Who were these kids with the strange names? They were polite, dedicated and often studs.

They absolutely were Nigerian, or the second-generation offspring of Nigerians, playing the hell out of American football.

"You're always looking for the next thing in recruiting," said Burton, a writer for 247Sports.

This one hit him between the eyes.

All of it made sense when Burton did the math. Nigeria is the seventh most populous nation in the world (190 million). There are more Nigerian immigrants in the United States (376,000) than anywhere in the world. The Houston metro area is home to most Nigerians in the country (about 150,000).

Somehow their culture, their drive, their family structure and, oh yes, their bodies seemed to fit football.

With some meticulous research, Burton determined that in the 2016 NFL Draft there were as many players taken from Lagos, Nigeria, as from the city of Chicago (three).

"Unbelievable, unbelievable," said Hakeem Olajuwon, the acknowledged pied piper for Nigerian athletes after coming out the University of Houston in 1984 and becoming a member of the Naismith Memorial Basketball Hall of Fame.

"You can see the talents coming out."

It turns out, this phenomenon was bound to happen.

"I think it was kind of that moment in time," Burton said. "It's gone past the point of coincidence It's no longer just [an] anomaly. It's part of the fabric of football and football recruiting in this country."

Their story goes beyond college football -- or even college athletics. Forget any athletic stereotype, Nigerians have a fierce family pride and dogged belief in education -- particularly higher education -- that allows them to succeed in this country.

These noble West African natives and their descendants are the American Dream.

"There is an honor about them," Southern California Trojans coach Clay Helton said.

Helton counts at least five first- or second-generation Nigerians on his roster.

"They're such a regal people," said Chris Plonsky, the women's athletic director at Texas Longhorns .

Oh, and they can play. In the space of four picks at the end of the first round and beginning of the second of that 2016 NFL Draft, three were of Nigerian descent ( Ole Miss Rebels ' Robert Nkemdiche , Texas A&M's Germain Ifedi and Oklahoma State Cowboys 's Emmanuel Ogbah ).

While the NCAA doesn't keep statistics on nationality (only race), Nigerian influence on college sports is obvious. Among the Power Five, only the SEC didn't have at least one player of Nigerian heritage on its all-conference first or second teams in 2016.

The past three seasons, at least one player of Nigerian heritage has finished in the top 25 nationally in tackles.

At least 80 players of Nigerian ancestry have populated professional football, soccer, basketball and even car racing in recent years. In 1987, Christian Okoye ("The Nigerian Nightmare") became the first Nigerian-born NFL player.

Before Okoye, Olajuwon was the inspiration.

"You're totally right," said Emmanuel Acho , a Nigerian-American who played linebacker at Texas and in the NFL. "If you want to start with Hakeem Olajuwon or you want to start with Christian Okoye, [it doesn't matter]."

Hakeem's background in soccer and handball helped his footwork in basketball. Those Phi Slama Jama teams in the mid-1980s changed the game.

But what about the scores of second-generation Nigerians -- those born into a family with at least one Nigerian-born parent? In the 2016 NFL Draft alone, there were three times as many Nigerian players with hereditary ties to the country's dominant tribe -- the Igbo -- (six) than draftees from Florida State Seminoles (two).

Oluwole Betiku might be the next Nigerian phenom in the NFL. The sophomore linebacker is already the talk of Southern California, where they affectionately they call him "Wole" (woe-lay).

Betiku was discovered at a basketball camp in Nigeria. At age 15, he rode 11 hours in a bus to that camp in hopes of finding a better life for his impoverished family.

Desperation doesn't begin to describe it. Seventy percent of the Nigerian population is below the poverty line. Forty percent of the population is illiterate. The AIDS rate there is the highest in the world.

"We have oil everywhere," Sonny Acho said of his native land.

Acho is father of Sam and another Texas/NFL linebacker, Emmanuel. Sonny has become an icon not only in his Dallas community but also for his Nigerian outreach.

"We have a corrupt culture: Get all you can!" he said of Nigeria. "Only a few politicians live large. Millions live in poverty. These are the people that we are trying to go help."

Sam and Emmanuel have been on an estimated 15-20 mission trips back to their parents' homeland. They have recruited friends and teammates to provide basic needs to villages.

"People talk about modern-day miracles," Sam explained. "I saw a lady that was blind, and she received her sight through prayer."

That required some reconfirmation. The mission trip did include some doctors who were removing cataracts. Wasn't that what Sam witnessed?

"She starts praying, praying, praying," Sam said. "The next thing she says is, 'Amen.' I'm standing around the way just kind of seeing what's going on. The lady starts freaking out. They hold up this card and ask her what color it is.

"She says, 'Yellow.'"

A more conventional miracle: Out of that Nigerian camp, Betiku eventually got referred to former Penn State Nittany Lions star LaVar Arrington, who became his legal guardian and brought him to the U.S. Betiku didn't take up football until he was a sophomore at Serra High School in Los Angeles.

At that point, he was so nave to the sport, Wole shed his shoulder pads as an annoyance. Just getting on the field for the Trojans for five games as a freshman was a win.

"I'll never forget him absolutely breaking down into tears one day in our defensive team meeting," Helton said. "They had showed some tape on him and a little bit of praise. He said, 'Coach, if you could imagine where I was a couple of years ago to where I'm sitting right now. I just thank God for this opportunity.'"

If you want to secure one of these talents, you might want to place a call to Lou Ayeni. He is as plugged in to the Nigerian recruiting scene as anyone. Both parents of Iowa State Cyclones 's running backs coach are from Lagos, Nigeria's capital.

Babs and Flora have PhDs. Dad is a statistical engineer. Mom is a biomedical statistician. One sister, Tina, is a nationally noted oncologist who treated the mother of Iowa State coach Matt Campbell.

"She's trying to find a cure for ovarian cancer," Lou said. "My mom makes fun of me. You went to Northwestern Wildcats to coach football? I don't understand it."

That was after playing tailback and safety for the Wildcats under Randy Walker and surviving eight surgeries in his career. That was after his mother all but hand-picked the elite school for her son.

"My mom says, 'You're going to the best academic school you can go to,'" Lou recalled. "I was high school player of the year in Minnesota. I was enamored with Wisconsin Badgers . My first Big Ten visit was Iowa Hawkeyes . They were really intriguing schools to me."

Flora then interjected: Nothing is happening until you visit Northwestern.

"We go through the academic piece. First thing she says is, 'You're coming here,'" Lou said. "Some Nigerian families are like that."

As an Ayeni, Lou did take the road less traveled. He knows those Dallas and Houston hotbeds.

Running back Kene Nwangwu was the state high jump champion out of Dallas, not the kind of player who come to Ames, Iowa. He was offered by every Big 12 school. Iowa State got him.

"It was an easy sell for me," Ayeni said. "His family is very similar to my family -- 4.0 GPA, yes sir, no sir."

Ayeni says he can see Nigerian talent just by watching tape.

"Some of them," he said. "If I hear the name and watch them, I'll know if they're Nigerian."

Their names are often lyrical, peaceful and meant to convey both their faith and future -- Blessing, Sunday, Passionate, Peace, Promise, Princess.

Former Iowa State offensive lineman Oni Omoile was part of a royal bloodline in Nigeria. His nickname on the team quickly became "Prince."

"We know each other by our last names," Sonny Acho said. "You give me somebody's last name, not only will I know that person is from Nigeria, I will even tell you where the person is from. It tells you the tribe and the language the person speaks."

"Acho" means "I have found what I'm looking for," according to Sonny. Burton says he knows Nigerians by another definition.

"I've been doing this a long time," he said. "I can't remember a Nigerian kid ever having grade problems. It's not the physical nature of their ability. It's the maximization of what they have."

There are other cultures that stress education and family. Why are Nigerians different to be the subject of this talent/recruiting boom?

The Immigration and Nationality Act of 1965 was a direct result of the growing civil rights movement. It relaxed immigration quotas. The Refugee Act of 1980 made it easier for African immigrants to come here. That was important for those fleeing conflict-impacted areas, such as Nigeria.

That Nigerian U.S. population of 376,000 is roughly the size of New Orleans. That sample size has produced an athletic revolution.

WNBA players Chiney and Nneke Ogwumike -- from the Houston suburb of Tomball -- were the only other siblings besides the Mannings to be drafted No. 1 overall in a U.S. professional sports league (2012, '14).

They are part of the fabric of a metro area. Half of all African immigrants in Houston are from Nigeria

"Why is there such a concentration in Houston?" asked Stephen Klineberg, a sociology professor at Rice. "It's the classic story of immigration. You go where you know people. You go there because your cousin is there."

And the climate is roughly the same. The humidity and warmth of Houston is similar to Lagos. That gives rise to the some of the first families of Nigerian-American sports -- the Achos, the Orakpos, the Okafors.

All-American linebacker Brian Orakpo came out of Houston to win a national championship at Texas. He has been selected for the Pro Bowl in half of his eight pro seasons.

Emeka Okafor was the first member of his Nigerian family born in the United States. The former UConn basketball star and No. 2 overall draft pick played 10 NBA seasons. Distant cousin Jahlil Okafor was the No. 3 pick overall in 2015 out of Duke.

The Nigerian surge in athletics is best described another way: Half of all Nigerians have arrived in the country since 2000. Twenty-nine percent of those immigrants age 25 or older hold a master's degree. That's compared to 11 percent of the overall U.S. population. Eight percent of those Nigerians hold doctorate degrees compared to 1 percent of the U.S. population. This 2008 story calls them the most educated ethnicity in the U.S.

The NCAA's antiquated bylaws constantly remind us a degree doesn't necessarily equal an education. But in the Nigerian culture, education is the foundation for life.

Sam Acho could have played anywhere. His athletic talent was evident. But he was also being recruited by elite schools including several in the Ivy League. Sonny had to be convinced Texas was worthy of his son.

"Sam got into Texas' McCombs School of Business," Sonny said. "That solved the problem. Mack Brown basically knew we were strong people. Anything outside of that was going to cause a problem. They allowed us to be involved in the boy's lives. It's all about academics first and football second."

In 2010, Sam won the Campbell Trophy, the so-called "Academic Heisman" for the nation's top football scholar-athlete. Sam has a master's in international business. Emmanuel has a master's in psychology.

As kids, they led somewhat of a cloistered life. Such is the influence of parents. Sonny said former USC coach Pete Carroll once pulled Sam from a group of 300 and tried to get him to commit.

So you can sort of understand a natural skepticism.

"My kids couldn't do sleepovers," Sonny said. "I don't know what you have going on in your house. I'm not willing to let my son go over there and something goes wrong and then they accuse my son of raping many African parents will be like that."

A large part of this story is simple math and demographics. Nearly 16 percent of the United States' population has ties to Africa, and nearly five percent of its immigrant population is from Nigeria. The only countries in the world larger than Nigeria are Pakistan, Brazil, Indonesia, the United States, India and China. According to a new United Nations report, Nigeria will be the third-most populous country in the world by 2050, overtaking the United States.

There are more native Nigerians in the U.S. than from any other African nation. In 1980, that number was 25,000. As the refugee laws began to loosen, in every decade from the 1980s through the 2000s, at least 10 million immigrants came to the U.S.

Eighty-eight percent of those were of Asian, Latin American, Caribbean or African descent, Klineberg said.

"It's a new immigration stream that has never existed before in American history," he added.

Nigerian families tend to be large, accomplished and -- as mentioned -- extremely close. Florida State All-ACC defensive tackle Derrick Nnadi says he talks to each of his six siblings daily via social media.

"Every day we have a whole group chat," he said.

A brother, Bradley, is an actor in Southern California. A sister, Ashley, got into the nursing program at Old Dominion. Derrick somehow ended up the kid with his hand in the dirt -- although one with a 3.12 grade-point average last semester.

"I have four jobs," Derrick said. "Go to class, study, get conditioned, play football. That really boils down to two jobs."

You shouldn't even have to ask. Consider his father, Fred Nnadi. He came to the U.S. with his brother decades ago determined to carve out a life as an engineer.

But like a lot of immigrants, he was hindered by his nationality and the language barrier.

"I went to a job interview one time. I had three degrees going in," Fred said. "I applied to be a meter reader. The supervisor doesn't have the degree I have.

"He hired me and didn't say a word. When I left, he started tell me he wished he had the education I had. I had to feed my family. That's why we emphasize education."

But perhaps the only reason Derrick is at Florida State in the first place is that Fred survived the brutal Nigerian civil war from 1967-70.

Up to two million might have died in the bloody conflict. It evolved as Nigeria was finding its identity as an independent nation after separating from the United Kingdom in 1960.

As a teenager, Fred voluntarily joined what he said were the equivalent of U.S. Army Rangers, fighting behind enemy lines. This was in the days of governmental conscription.

"It was a war of genocide It was a terrible war," Fred said. "That war, they have not recovered. I'm not kidding you. I don't care what anybody says."

Those who survived at least had the chance to pass on their genes in the United States. Fred's father had been a tribal chief back in the homeland with "many wives" who "when he walked on land, the ground shook."

"I have so many brothers and sisters," Fred said. "We were in the hundreds. He was a very great man. I have to tell you, when you look at Derrick, he's black and big. You're looking at my father."

That memory of Chief Ezeoha explains some of the why the 6-foot-1, 312-pound Derrick became one of three "Seminole Warriors" on the team by throwing up 525 pounds on the bench.

"I have a video if you want to see it," Derrick said proudly. "I will never shy from showing the video."

After that civil war, a series of oppressive dictators emerged. Lately, the ISIS-affiliated Boko Haram has terrorized Nigerians.

Like all Nigerian athletes spoken to for this story, they seem to be Americans first. Some have been back to the homeland. All of them can't forget it.

"Killing this goat right in front of us and slicing it's neck," USC tight end Daniel Imatorbhebhe said while recalling a visit from his childhood. "[I remember] it running it around. We ate it later in the day. It was spicy."

In one sense, Imatorbhebhe is as American as the corner McDonald's. He was born in Nigeria but grew up in suburban Atlanta before signing with Florida Gators and immediately transferring to USC.

Imatorbhebhe's mother is a biomedical consultant. His father worked for a mortgage company before the financial crash. His brother, Josh, is a Trojans receiver.

"It's tough because it's like we're not really seen as in the some mold as an African-American kid," Daniel said. "Teammates have always said, 'Y'all are just built different. What do you attribute that to? Is it what you eat?'"

Yes, if you consider Nigerian staples oxtail, coconut rice and fufu the diet of champions. The family is also Yoruba, another common tribe in Nigeria.

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Hampton Creek to enter clean meat market in 2018: ‘We are building a multi-species, multi-product platform’ – FoodNavigator-USA.com

Posted: June 30, 2017 at 12:46 pm

The first commercial product from Hampton Creeks new clean meat production platform will likely be in the avian family, director of cellular agriculture Eitan Fischer told FoodNavigator-USA as the company best known for its work on plant-based proteins unveiled ambitious plans to explore the animal variety.

Fischer was speaking to us after Hampton Creek founder Josh Tetrick posted anarticle on linkedin explaining that producing 'clean' or 'cultured' meat (by culturing cells without raising or slaughtering animals) and plant-based meat/eggs, both stemmed from a desire to find kinder and more sustainable alternatives to industrial animal farming.

His comments came as Dr Eric Schulze, senior scientist at Memphis Meats probably the best-known clean meat company told delegates at the IFT show this week that his company aims to launch premium-priced clean meat products in high-end restaurants in 2019, and more mass market products in grocery stores in 2021.

Poultry will likely be first to market in late 2018, Fischer told us: We believe the first product released commercially will likely be in the avian family.

Longer term, however, the plan is to build a multi-species, multi-product platform spanning the entire range of meat and seafood, he said.

We haven't solved the meat and seafood problem until we are able to make all of these products.

Asked how long Hampton Creek had been working on the technology, and what kinds of scientists were working on the project, he said: We have been working on this for over a year. Many members of our 59-person R&D team are involved, between our molecular team, our analytical chemistry team, our process team, and our product development team.

We also supplemented the significant in-house expertise we had previously with additional, more specific specialists such as scientists with stem cell biology, medicine, and tissue engineering backgrounds.

"We believe that clean meat can be evaluated and regulated within existing regulatory frameworks... Clean meat is a food, not a drug, not a new animal drug or a food additive..." [read more on this at FoodNavigator-USA next week..]

Rebecca Cross, counsel,Davis Wright Tremaine LLP

We think its unlikely that families in Alabama (or anywhere in the world) will consistently choose plant-based alternatives over chicken, beef, pork, and seafood Over the past year, weve started the early work of expanding our platform to solve the technical challenges of scalable clean meat.

With plants providing nutrients for animal cells to grow, we believe we can produce meat and seafood that is over 10x more efficient than the worlds highest volume slaughterhouse.

Imagine choosing between a similarly priced pound of clean high-grade bluefin tuna belly or conventional tilapia from underwater traps. Or clean A5 Kobe beef versus conventional sirloin (corn-fed and confined). Our approach will be transparent and unquestionably safe, free of antibiotics and have a much lower risk of foodborne illness. The right choice will be obvious.

Weve started the process of licensing our discoveries to the worlds largest food manufacturers and, in the years ahead, well do the same with the worlds largest meat and seafood companies.

Josh Tetrick, founder and CEO, Hampton Creek

Fischer would not say what kind of stem cells the company is using, or whether the plan is to first proliferate cells in a stir tank bioreactor and then transfer them to a larger perfusion type bioreactor where they will mature and differentiate in to the different cell types (fat, muscle, connective tissue).

However, he confirmed that, We are building a platform that enables us to produce cells of different types including muscle, fat, and others, in a bioreactor-based process.

As for the go-to-market strategy, he said: We are exploring various options for the initial release but are most focused on how to get the costs down to parity or below current meat prices. We haven't truly solved the meat and seafood problem until we've done so.

The company has not said what it is using as a growth medium (the nutrient-rich bath the cells need to grow) but said its expertise in plant-based products had enabled it to develop a viable vegan alternative to animal serum.

"The entry of a billion-dollar company into the clean meat market sector is a vote of confidence in the technology, and we hope that Hampton Creek will be the first of many major food companies to dive into this incrediblypromisingfield."

Bruce Friedrich, executive director, The Good Food Institute

In a mapping document penned by the Good Food Institute earlier this month, the authors predicted that clean meat would likely come to market in phases, with the first products perhaps hybrids combining clean meat and plant-based meat; followed by ground meat products (nuggets, burgers); and finally those mimicking steaks or chicken breasts, which present significantly greater technical challenges.

The first products that come to market may be hybrid products wherein clean meat is included as a part of plant-based products that essentially require only cell lines, media, and proliferative bioreactors to come to fruition.

They add: The next commercial products will likely be ground meat mimics, where scaffolding can be minimal; more complex structures requiring vascularization or perfusion bioreactors are not necessarily required.

Finally, more structured tissues like those mimicking steaks or chicken breasts will require research and development in all of the areas outlined above. Thus, a consideration of target product(s) should drive the R&D focus.

Speaking at a webinar hosted by the GFI on June 8, Dr Specht added: "I think there's a lot of evidence to suggest that consumers would be interested in hybrid products," citing the success of products already on the market that feature combinations of regular meat and plant-based ingredients, such as mushroom blend burgers and sausages with 40% meat, which are marketing on a health and sustainability platform, and can also be more affordable.

"The phrase 'clean meat' is similar to 'clean energy' in that it immediately communicates important aspects of the technologyboth the environmental benefits and the decrease in food-borne pathogens and drug residues."

Bruce Friedrich, executive director, The Good Food Institute

This Good Food Institute schematic illustrates one conception of the clean meat production process at scale. The first stage is proliferation of the cells, followed by a differentiation and maturation stage where cells are seeded onto scaffolds and allowed to mature into the cell types required for meat.

Clean meat production begins with obtaining cell lines for the desired animal species (eg. chicken, pork, beef) that behave in a predictable way through many generations, while maintaining an unlimited capacity to reproduce/divide (ie. immortalized cell lines).

Next you have to proliferate cells, perhaps in a stir tank bioreactor where you might suspend your cells in the growth medium (both Hampton Creek and Memphis Meats claim to have found viable alternatives to animal serum read more about that HERE ) and stir them and keep them warm.

As for the next stage, where you want to encourage the creation of an organized pattern of muscle, fat, and connective tissue cells, this would probably require seeding onto scaffolding and then differentiating into the various cell types, the stage at which you get real fat cells forming and the muscle cells forming into fibers to give that authentic meaty texture, said Dr Specht.

Here, the scaffolding would need to be something that is subsumed within the final meat product so it would have to be made out of something that is degradable over time, or something edible that would not impact the taste or safety of the final product such as cellulose or collagen, she said.

To accommodate three-dimensional growth, the scaffolds must exhibit porosity for perfusing nutrient media [the nutrients have to be able to reach the cells], she added. Alternatively, they must support vascularization of the tissue itself, i.e., the formation of a network of vessels to allow nutrients to permeate the tissue. Several production methods, including 3D printing and spun-fiber platforms, allow fine-tuning of pore size and microstructures within the scaffold.

"Once you get to the scaffold stage, that area is less explored and has not yet been demonstrated at scale."

Interested in clean meat?

GFI senior scientist Dr Liz Specht will give delegates at FOOD VISION USA 2017 the lowdown on clean meat, while Alex Lorestani will explain how Geltor is producing gelatin without animals. See the latest speaker list HERE .

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Value A Biotech Company Against Risk – Seeking Alpha

Posted: June 30, 2017 at 12:45 pm

Is there an easy way to assess the value of a biotech or pharmaceutical company based on its potential, cash, and asset position while adjusting for potential risk?

Are there any easy ways to enter an investment at a stage in which a company has passed a key FDA approval level for one of its drugs?

Biotech investors must recognize these issues. Weighing up the risk, and whether or not the company stock is over or undervalued, is a basic investment concern but one that can be hard to navigate in the Biotech industry. Various websites do provide information which makes the task easier, though.

Historical and Current Sector P/E

As reported in Forbes.com, biotech company values can achieve an extraordinary high P/E ratio when they're successful, and sentiment favors this sector. In 2015, on the most recent biotech stock 'highs', Zero Hedge reported that about 75% of biotech companies were not creating any profit despite high valuations. Perhaps this led many investors to assume the biotech industry was in a bubble. Investing in biotech isn't comparable with any other form of technology. Biotech companies acquire significant levels of venture capital to fund very long-term and extremely expensive new drugs and rely on high share price valuations to achieve this.

According to Investopedia:

Pharmaceutical stocks typically trade at a large discount to biotech stocks. The historical mean forward P/E multiple is 16x from 1976 through March 2013 for pharmaceuticals as compared to the high 20x to 30x or more for biotech.

Market Realist.com summarizes valuation factors:

A biotechnology company's (NASDAQ:IBB) value is comprised of two main factors: assets in place and growth assets. Assets in place, or drugs currently being sold in the market, are indicators of the present cash generation capacity of the biotechnology company. Growth assets involve drugs in a company's research and development (or R&D) pipeline as well as future licenses and collaborations with other pharmaceutical and biotechnology companies.

Many biotechnology companies carry substantial debt on their balance sheets. EV-to-EBITDA value can be used to determine the attractiveness of a mature biotechnology company. Low EV-to-EBITDA ratios may signal that the market is undervaluing the stock.

Since a large portion of a biotechnology company's value is derived from its R&D assets, discounted cash flow valuation (or DCF) proves to be a more effective valuation technique. However, this method is extremely sensitive to inputs related to future riskiness and returns of the company. So, wrong inputs can lead DCF in returning erroneous company values.

The problem is, of course, discounting for risk.

It can take 10 years or more to take basic experiments to a commercially viable product, and each stage requires extensive funding. There's a lot of risk involved, especially at the early stages, but investors in those companies which succeed are often generously rewarded. Weighing up risk is as crucial as buying at the right price; the two go together.

'Techinvest Daily' has a valuation suggestion. Here are some additional ideas, too, on where to source useful info, how to buy into a company which has just reached an FDA approval, reducing at least one level of risk.

FDA Approval Is A Lengthy, Costly, and Risky Business

Unlike P/E valuations (which are based on earnings, so exclude many small biotech companies) and 'DCF' (which is based on a cash flow measurement, a biotech valuation needs to account for reduced risk, as well as a product which is becoming increasingly viable as it successfully clears each of the three main hurdles needed for approval of each drug.

Assessing The Value Of The Pipeline and Third Party Resources

For example, a company has four products developing in its pipeline. We can assess a top value for each drug by multiplying its projected market share by its potential value, "assuming approval".

We can then risk adjust, the possibility of not passing regulations, by multiplying the value of each drug by the likelihood of its approval (the three hurdle assessment). This delivers a 'Risk Adjusted Value' or RAV which can be added together for the total company pipeline.

It would be difficult for investors to decide on the likelihood of approval in advance. There are websites which specialize in biotech company information like Biospace. The BioMedTracker Drug Intelligence Platform tracks company pipelines and drug catalysts, but otherwise, risk has to be assessed based on what's happened to other products trying to achieve similar results. Information is available from the FDA itself. Some sites which flag which products are waiting on approval include Biopharmcatalyst.com.

The Value of The Market Opportunity

Potential revenue numbers are usually provided by specialist biotech market intelligence companies, anticipating the potential for a company to acquire a share of a particular drug market. It doesn't account for potential profit. 30% of revenue or more can be lost to a drug distribution channel and profit influenced by costs like:

Other substantial costs can include sales and marketing (which can be significant to create national cover), as well as patent, office, and administration fees.

Risk Valuation Example

E.g. Company X

Maximum potential of $1 billion. RAV value, $500m (after adjusting for market share and the one-third level risk and likelihood of achieving that, the pipeline is worth $500m at the particular stage the products are at, plus cash, less debt).

Share value is (RAV + cash - debt/shares outstanding)

So, if company X were to have $50m in cash and $30m in debt, the calculation would look like:

$500m + $50m - $30m/50 million outstanding shares

or $520m/50 million shares means the stock is a good buy, trading under $10.20 relative to its risk.

Risk adjusted Value (RAV) = product valuation * market share * likelihood of approval

Risk Avoidance Measures

It's possible to avoid the individual company risk issues (while sacrificing some of the stock appreciation performance) by investing in one of the ETFs which track the biotech industry, like IBB. Service fees can accumulate for regular trading, though.

Armed with some specialist advise and having compared other companies developing similar products and their outcomes, an investor is able to make an improved risk judgement using the methods suggested. An investor can then decide whether buying into the stock is worth the risk involved in the pipeline. Further risk is reduced on buying a stock immediately following FDA approval of individual products, and potentially most advantageous following stage three approval.

Disclosure: I/we have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours.

I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

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Biotechnology Separation Systems Market 2017 Industry Analysis, Size and Share – World Of WallStreet

Posted: June 30, 2017 at 12:45 pm

Biotechnology Separation Systems Market

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Scientists manipulate ‘signaling’ molecules to control cell migration – Phys.Org

Posted: June 30, 2017 at 12:45 pm

June 30, 2017 Researchers have found a way to tweak cells' movement patterns to resemble those of other cell types. Credit: Tim Phelps/Johns Hopkins University

Johns Hopkins researchers report they have uncovered a mechanism in amoebae that rapidly changes the way cells migrate by resetting their sensitivity to the naturally occurring internal signaling events that drive such movement. The finding, described in a report published online March 28 in Nature Cell Biology, demonstrates that the migratory behavior of cells may be less "hard-wired" than previously thought, the researchers say, and advances the future possibility of finding ways to manipulate and control some deadly forms of cell migration, including cancer metastasis.

"In different tissues inside the body, cells adopt different ways to migrate, based on their genetic profile and environment," says Yuchuan Miao, a graduate student at the Johns Hopkins University School of Medicine and lead author of the study. "This gives them better efficiency to perform specific tasks." For example, white blood cells rhythmically extend small protrusions that allow them to squeeze through blood vessels, whereas skin cells glide, like moving "fans," to close wounds.

On the other hand, Miao notes, uncontrolled cell migration contributes to diseases, including cancer and atherosclerosis, the two leading causes of death in the United States. The migration of tumor cells to distant sites in the body, or metastasis, is what kills most cancer patients, and defective white blood cell migration causes atherosclerosis and inflammatory diseases, such as arthritis, which affects 54 million Americans and costs more than $125 billion annually in medical expenditures and lost earnings.

Because cells migrate in different ways, many drugs already designed to prevent migration work only narrowly and are rarely more than mildly effective, fueling the search for new strategies to control migratory switches and treat migration-related diseases, according to senior author Peter Devreotes, Ph.D., a professor and director of the Department of Cell Biology at the Johns Hopkins University School of Medicine's Institute for Basic Biomedical Research.

"People have thought that cells are typed by the way they look and migrate; our work shows that we can change the cell's migrating mode within minutes," adds Devreotes.

For the new study, Devreotes and his team focused on how chemical signaling molecules activate the motility machinery to generate protrusions, cellular "feet" that are a first step in migration. To do this, they engineered a strain of Dictyostelium discoideum, an amoeba that can move itself around in a manner similar to white blood cells. The engineered amoebae responded to the chemical rapamycin by rapidly moving the enzyme Inp54p to the cell surface, where it disrupted the signaling network. The cells also contained fluorescent proteins, or "markers," that lit up and showed researchers when and where signaling molecules were at work.

Experiments showed that the engineered cells changed their migration behavior within minutes of Inp54p recruitment. Some cells, which the researchers termed "oscillators," first extended protrusions all around the cell margins and then suddenly pulled them back again, moving in short spurts before repeating the cycle. Fluorescent markers showed that these cycles corresponded to alternating periods of total activation and inactivation, in contrast to the small bursts of activity seen in normal cells.

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Other cells began to glide as "fans," with a broad zone of protrusions marked by persistent signaling activity.

Devreotes describes the signaling behavior at the cell surface as a series of waves of activated signaling molecules that switch on the cellular motility machinery as they spread. In their normal state, cells spontaneously initiated signaling events to form short-lived waves that made small protrusions.

In contrast, oscillators had faster signaling waves that reached the entire cell boundary to generate protrusions before dying out. Fans also showed expanded waves that continually activated the cell front without ever reaching the cell rear, resulting in wide, persistent protrusions.

The scientists say their experiments show that the cell movement changes they saw resulted from lowering the threshold level of signaling activity required to form a wave. That is, cells with a lower threshold are more likely to generate waves and, once initiated, the activation signals spread farther with each step.

Devreotes says the team's experimental results offer what appears to be the first direct evidence that waves of signaling molecules drive migratory behavior. Previously, his laboratory showed a link between signaling and migration, but had not specifically examined waves.

In further experiments, Devreotes and his team found that they could recruit different proteins to shift cell motility, suggesting, he says, that altering threshold is a general cell property that can change behaviorno matter how cells migrate. His team was also able to restore normal motility to fans and oscillators by blocking various signaling activities, suggesting new targets for drugs that could be designed to control migration.

Devreotes cautions that what happens in an amoeba may not have an exact counterpart in a human cell, but studies in his lab suggest that something like the wave-signaling mechanism they uncovered operates in human cells as well.

The bottom line, says Miao, is that "we now know we can change signaling wave behavior to control the types of protrusions cells make. When cells have different protrusions, they have different migratory modes. When we come to understand the essential differences between cells' migratory modes, we should have better ways to control them during disease conditions."

Explore further: How cells communicate to move together as a group

More information: Yuchuan Miao et al. Altering the threshold of an excitable signal transduction network changes cell migratory modes, Nature Cell Biology (2017). DOI: 10.1038/ncb3495

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TissueGene Awarded $750000 Maryland Stem Cell Grant for Invossa Clinical Study – PR Newswire (press release)

Posted: June 30, 2017 at 12:44 pm

TissueGene has been awarded a $750,000 clinical grant from the Maryland Technology Development Corporation (TEDCO) via the MSCRF. The clinical grant is to be used for conducting clinical trials in Maryland using cell therapy. This money is part of Accelerating Cure, a new TEDCO initiative to support regenerative medicine and cell therapy technologies in Maryland.

The grant award will be used by TissueGene to fund a component of a clinical study at a Maryland location for its US Phase III clinical trial for Invossa. The ultimate outcome of this study is the verification that Invossa exerts its therapeutic effect not only by tissue regeneration but on other inflammatory aspects of the disease such as synovitis.

The title of the grant is "Assessment of the Efficacy of TG-C in Treating Synovitis Using Contrast Enhanced MRI in a Clinical Study of Knee Osteoarthritis." The Principal Investigator (PI) for the study will be Dr. Gurdyal Kalsi, Chief Medical Officer of TissueGene.

"We are excited to support this important clinical trial and the growth of TissueGene in Maryland," said Dr. Dan Gincel, TEDCO's VP University Partnerships, and MSCRF's Executive Director. "We look forward to see many more patients treated and cured from this and other devastating diseases."

Woosok Lee, CEO of TissueGene stated, "As a Maryland-based company, TissueGene is honored by the grant award from the State of Maryland which has consistently demonstrated its commitment to supporting innovative therapies such as Invossa, which could potentially be the world's first disease-modifying drug for treating osteoarthritis."

Invossa is a first-in-class osteoarthritis drug designed to conveniently and effectively treat osteoarthritis of the knee through a single intra-articular injection. Clinical trials completed in Korea and on-going trials in the US have demonstrated pain relief, increased mobility, and improvements in joint structure offering substantial convenience for the nearly 33 million Americans with osteoarthritis who would otherwise be in need of surgery.

TissueGene, Inc. TissueGene, Inc., is a Maryland-based regenerative medicine company specializing in cell and gene therapy. TissueGene's lead product is Invossa, an allogeneic, cell and gene therapy for osteoarthritis of the knee that has completed Phase II clinical trials in the US. TissueGene has recently reached an agreement with the U.S. Food and Drug Administration regarding a Special Protocol Assessment (SPA) for a Phase 3 clinical trial for Invossa. Information can be found at the NIH registry, ww.clinicaltrials.gov. For additional information about TissueGene, Inc., please visit http://www.tissuegene.com.

The Maryland Stem Cell Research Fund (MSCRF) was established by the State of Maryland under the Maryland Stem Cell Research Act of 2006 to promote State-funded stem cell research and cures through grants and loans to public and private entities in the State. Administered by The Maryland Technology Development Corporation (TEDCO), the MSCRF is overseen by an independent Commission that sets policy and develops criteria, standards and requirements for applications to the Fund. For more information about the Maryland Stem Cell Research Fund, please visit http://www.mscrf.org.

The Maryland Technology Development Corporation (TEDCO) is the go-to source for entrepreneurial support and guidance for technology start-ups and early-stage companies engaged in bringing innovative ideas to market. For over nineteen years, the organization has provided funding, mentoring and networking opportunities to support Maryland's innovation ecosystem. It is frequently ranked as one of the most active seed/early-stage investors in the nation. The organization plays a key role in bringing research created in Maryland's educational institutions and federal laboratories into the commercial marketplace. For more information on TEDCO and its programs and resources, visit http://www.TEDCO.md.

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/tissuegene-awarded-750000-maryland-stem-cell-grant-for-invossa-clinical-study-300482506.html

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Like it or not, broccoli is good for you – Baltimore Sun

Posted: June 30, 2017 at 12:44 pm

Turns out our mothers may have been onto something when they told us to eat our vegetables especially our broccoli.

A compound found naturally in broccoli and other cruciferous vegetables may reduce some of the harmful effects of Type II diabetes in overweight adults, according to new research by Jed Fahey, a nutritional biochemist and an associate professor at the Johns Hopkins University School of Medicine, and a team of researchers in Europe and the United States.

An article on the findings appeared in the journal Science Translational Medicine in June.

Fahey, who is director of the Cullman Chemoprotection Center at the medical school, served as an author of the study along with colleagues based in Sweden, Switzerland and elsewhere in the United States.

It isn't the first time Hopkins researchers have illuminated the healthful powers of broccoli.

Fahey's predecessor as director of the research center, the renowned pharmacology professor and experimental generalist Paul Talalay, isolated the compound sulforaphane as a phytochemical (a chemical produced by plants) in the early 1990s.

Two years later, Talalay made international headlines and sparked broccoli sales around the world by demonstrating the compound's effectiveness in boosting the body's ability to resist cancer.

He and Fahey also showed that broccoli sprouts three- to four-day-old broccoli plants have 50 to 100 times the cancer-fighting power as the mature stalks typically sold in grocery stores.

Popular Science called the findings among the top 100 scientific discoveries of the 20th century, and researchers at Hopkins and elsewhere have since tested the chemical's effectiveness in helping the body fend off pathologies from autism and osteoarthritis to Parkinson's and Alzheimer's disease.

This study was the first to test it against Type II diabetes, a chronic and increasingly widespread metabolic disorder that affects more than 29 million Americans and 420 million people around the world, according to the World Health Organization.

The world's most common form of diabetes, Type II arises when the body can no longer properly use insulin, a hormone that regulates blood sugar. As a result, blood sugar levels soar.

The disorder increases a patient's likelihood of developing heart disease, eyesight problems, kidney failure and stroke.

Though the study was comparatively small and short-term, the results are tentatively promising for the treatment of diabetes.

"This shows that sulforaphane is useful not only for cancer prevention but it also demonstrates anti-diabetes and many other activities," said Fahey, who spent 15 years in the biotechnology industry before joining the Hopkins faculty at Talalay's invitation in 1993.

It was four years ago that Anders Rosengren and Annika Axelsson, research endocrinologists at the Lund University Diabetes Center in Sweden, reached out to Fahey for his help in getting the study under way.

He and several colleagues had come across several papers suggesting that sulforaphane a compound that broccoli, cabbage, kale, bok choy and other vegetables in the pungent cruciferous category developed to protect themselves against unfavorable and stressful conditions might help human beings resist diabetes.

The Swedes' thinking, in scientific terms, was simple.

Research has shown that sulforaphane, by its very molecular makeup, has an unusual effect: it accelerates the body's production of a common but important protein known as Nrf2.

The job of Nrf2, in essence, is to regulate the creation of antioxidants that repair stressed, damaged or decaying cells.

A shot of sulforaphane kicks the creation of those antioxidants into overdrive, bolstering at the cellular level the body's capacity to resist a wide range of malfunctions.

"This molecule [Nrf2] is responsible for shouting out to cells, 'You're in trouble; you're being attacked by sunlight, by ultraviolet light, by toxins. You've got to up your game, you've got to enhance your protective strategy,'" Fahey said. "Nrf2 is a crucial regulator, and sulforaphane is one of the most potent inducers of that regulator."

While the liver of a normal person creates energy by producing glucose, a type of sugar, and releasing it in regulated amounts into the bloodstream, individuals with Type II diabetes can produce as much as three times the needed amount.

If that malfunction occurs because a patient's cells have been weakened by exposure to stressful conditions, the Swedes theorized, perhaps sulforaphane would help.

Their research proceeded in three phases.

First, they chose more than 3,800 drugs whose gene signatures they saw as likely to match up well against the pattern of gene expression associated with Type II diabetes.

They found through a complex form of mathematical cross-referencing that sulforaphane overlapped most closely with the diabetic expression pattern.

The group then began working with Fahey, who is known for the highly potent freeze-dried form of broccoli sprout extract he creates at Hopkins.

A series of experiments using the extract showed that sulforaphane reduced the overproduction of glucose in liver cells the scientists had grown in a lab and that it did the same in the livers of rats with diabetes.

The final step was to test sulforaphane in humans. The team conducted a 12-week randomized study involving 97 adults with Type II diabetes. About a third of them had a form of the disease that the widely used drug metformin and recommended lifestyle changes had failed to control.

The researchers gave about half of the group a dose of the extract each day, the rest a placebo.

Those who received the extract saw a decrease by an average of 10 percent in their glucose levels enough, the team says, to reduce complications in the eyes, kidney and blood.

Those with the least controlled cases of diabetes and subjects who were obese saw the greatest drops. Subjects who were not obese experienced no appreciable change.

Emily Ho, a nutritional biochemist at Oregon State University, also has studied the health effects of sulforaphane.

The results of the study are "definitely promising" even though "a more comprehensive study with a larger study group is needed, especially to tease out long-term safety and the sustainability of effects in patients," said Ho, the director of Moore Family Center for Whole Grain Foods, Nutrition and Preventive Health at Oregon State.

Fahey agreed that the study calls for follow-up.

"You want to see other people replicate your results or go them one better," he says.

But they are more than enough to support the belief Fahey and his Hopkins colleagues have long promoted that science has shown people don't have to wait until they develop full-blown illness to fortify their health.

A balanced diet that contains plenty of well chosen whole foods, he said including broccoli sprouts, the cruciferous vegetable with the most sulforaphane can provide a range of nutrients that work with the body to forestall illness and extend our "healthspan" in life.

Normally a patient man, Fahey struggles to hide his frustration when he talks about Americans and their eating habits. Science clearly shows that a diet centered on fresh, whole foods can ward off disease.

He can't fathom why so many people still have an appetite for junk food.

"It has been an uphill slog to convince people to eat a healthy overall diet," he says. "We'll keep trying to get the word out."

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Turning risk association to biological insight in type 2 diabetes – Medical Xpress

Posted: June 30, 2017 at 12:44 pm

June 30, 2017 by Veronica Meade-Kelly Credit: Susanna Hamilton, Broad Communications, from material provided by Leslie Gaffney and Lauren Solomon

Following up on findings from a an earlier genome-wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced an association detected in that study to variants in a specific gene, SLC16A11, and uncovered two distinct mechanisms by which those variants disrupt the gene's function in liver cells, possibly contributing to the pathogenesis of T2D. The findings, which appear this week in Cell, offer insights into the biology underlying T2D and suggest new leads in the search for therapeutics.

T2D is a chronic metabolic disease that affects how the body handles glucose, a type of sugar that serves as cells' basic unit of fuel. While environmental factors play a role in developing T2D, it is also highly heritableand the genetics involved are complex, with many genes contributing to disease risk. Though progress has been made in defining the genetic architecture of T2D, much remains unknown about how different types of genetic variation may lead to the disorder.

T2D afflicts over 400 million people worldwide, but has a disproportionate impact on certain populations, including those of Latin American descent (who are twice as likely as those of European ancestry to develop the disease). Suspecting that this disparity might help shed light on the condition's genetic underpinnings, researchers at the Broad's Diabetes Research Group, as part of the Slim Initiative in Genomic Medicine for the Americas (SIGMA) T2D Consortium, teamed with partnering institutions for the earlier GWAS study to discover genetic determinants of T2D from DNA samples from over 9,000 Hispanic individuals from Mexico and the United States. Previous studies had focused on populations of European descent.

Among the team's findings was variation in a specific part of the genome that was associated with a roughly 30 percent increase in diabetes risk. That variant is absent in Africa and rare in Europe but common in the Americas and it explains as much as 20 percent of the increased prevalence of T2D among Latinos. But discovering an association is only a first step in understanding the role genetics plays in the development of the disease.

"Drilling down to the pathogenesis of disease is a very laborious road to travel. It's relatively straightforward to discover genetic associations, but it's another matter to then go from association to function," explains the study's co-senior author Jose Florez, co-director of Broad's Metabolism Program, associate professor at Harvard Medical School, and chief of the Diabetes Unit at MGH.

Even focusing on a specific gene posed a challenge. Each locus found in GWAS spans a number of genes. The 2013 study, which was led by David Altshuler (now chief scientific officer at Vertex Pharmaceuticals), had shown that one gene in that region, SLC16A11, harbored several suspicious mutations, and more detailed genetic mapping of the region strengthened the case for focusing on it. Yet the role that gene might be playing in T2D remained a mystery.

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"One of the challenges with this study was that the genetic hits pointed to a gene that had not been characterized, so we were really starting from scratch in terms of grasping the biology," says Suzanne Jacobs, the associate scientific director of the Broad's Diabetes Research Group and a co-senior author of the paper.

The team had yet to figure out what SLC16A11 did, and where. SLC16A11 belongs to a family of genes known to transport molecules across cell membranes, but the proteins that genes produce can perform many different roles in the body, and they can be active in some tissue types but not others. The researchers not only had to figure out how SLC16A11 performed in normal circumstances, but also then determine how mutations in the gene disrupted that function. Specifically, they needed to determine the "direction of effect": Did gene activity go up or down? Understanding that function would provide vital clues about the gene's potential role in T2D.

"When we set about answering all these questions, there wasn't a single go-to experiment that we could do. We needed to use an array of tools at our disposalmolecular, biochemical, cellular, and physiologicalto figure out how the gene might contribute to type 2 diabetes risk," explains Eitan Hoch, a postdoctoral associate at the Broad and co-first author of the paper.

Through a series of tests, the team found that mutations were altering gene activity through two distinct mechanismsboth in the same "direction," by disrupting the gene. Some genetic variations in SLC16A11 simply decrease its expression in the liver (an organ that helps regulate blood sugar levels, and is therefore implicated in T2D). Other variants disrupt an interaction with another protein. The disruption changes the location of SLC16A11 within the cell and prevents the protein from doing its job as a transporter, influencing how fats are handled by the liver.

"To then determine how disrupting the gene might play out in the context of disease, we chemically knocked out the activity of SLC16A11 in human liver cells," explains co-first author Victor Rusu, a former Harvard graduate student at Broad now at Jnana Therapeutics. "We found that knocking this gene down resulted in changes in fatty acid and lipid metabolism that are reminiscent of what we see in insulin resistance and T2D."

The findings suggest that reviving SLC16A11 function may be beneficial for treating T2D, opening new avenues in the search for therapeutics. Such treatments, if discovered, could counter not only the effects of mutations in SLC16A11, but also potentially any T2D-associated variants that may trigger the disease through similar mechanisms.

"There is a lot more that needs to be done to determine where these findings fit within the T2D picture, but this study opens up a new direction in T2D research, identifying a potential new pathway that we don't yet fully understand," says Eric Lander, president and founding director of the Broad and a co-senior author of the study. "It's a great example of how genetic discoveries lead to biological insights and ultimately inform the search for much-needed treatments."

Explore further: SLC16A11 linked to type 2 diabetes in american indians

More information: Victor Rusu et al. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms, Cell (2017). DOI: 10.1016/j.cell.2017.06.011

(HealthDay)SLC16A11 A allele is modestly associated with type 2 diabetes in North American Indians, according to a study published online Oct. 20 in Diabetes.

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Following up on findings from a an earlier genome-wide association study (GWAS) of type 2 diabetes (T2D) in Latinos, researchers from the Broad Institute of MIT and Harvard and Massachusetts General Hospital (MGH) traced ...

Although the basic outlines of human hearing have been known for years - sensory cells in the inner ear turn sound waves into the electrical signals that the brain understands as sound - the molecular details have remained ...

(Medical Xpress)Via genetic analysis, a large international team of researchers has found rare, damaging gene variants that they believe contribute to the risk of a person developing schizophrenia. In their paper published ...

Using a new skin cell model, researchers have overcome a barrier that previously prevented the study of living tissue from people at risk for early heart disease and stroke. This research could lead to a new understanding ...

The first results from a functional genetic catalogue of the laboratory mouse has been shared with the biomedical research community, revealing new insights into a range of rare diseases and the possibility of accelerating ...

Whole genome sequencing involves the analysis of all three billion pairs of letters in an individual's DNA and has been hailed as a technology that will usher in a new era of predicting and preventing disease. However, the ...

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Turning risk association to biological insight in type 2 diabetes - Medical Xpress

Posted in Diabetes | Comments Off on Turning risk association to biological insight in type 2 diabetes – Medical Xpress

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