Report shows a 30% increase in number of Dell Medical School residents working in Travis County – Community Impact Newspaper

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The number of medical residents working in Austin-area clinics and hospitals has grown by more than 30 percent since voters approved the creation of Dell Medical School in 2012, according to the programs Community Benefit Report.

The annual report, which was jointly created by Dell Medical School and Travis Countys health district, Central Health, found an increasing presence of Central Texas medical students and residents in clinics and hospitals serving low-income communities.

Here are some ways Dell Medical residents have affected the community:

Dell Medical School said these improvements in community health care are a result of the tax increase Travis County voters approved in 2012, which funded the creation of Dell Medical School.

This communitys vote really was visionary, Dell Medical School Dean Dr. Clay Johnston said in a news release. Its exciting to see that vision becoming a reality, and its thrilling that so many people across our community are part of that process.

Although Travis County voters approved the tax increase that led to the annual $35 million investment from the Community Care Collaborativethe nonprofit partnership between the two entitiesthere have been a few vocal critics of the investment.

At a public forum hosted by Germane Solutions, an independent consultancy forum conducting a performance review of Travis County Health District, residents said Central Health incorrectly uses taxpayer money.

Attorney Fred Lewis said state law dictates that Central Healthwhich he says has a mission to provide health care to poor peopleis not allowed to spend taxpayer money on medical education.

But Greg Hartman, Seton Healthcares chief of External and Academic Affairs, said the investment actually does fund a better quality of life for all Central Texans.

Our partnership with Dell Med and Central Health is based on innovationnot just innovative health care breakthroughs, but also novel ways to collaborate and bring community resources together to improve the quality of life in Central Texas, he said.

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Report shows a 30% increase in number of Dell Medical School residents working in Travis County - Community Impact Newspaper

Liberty Tunnel overnight closures to continue through Thursday – Tribune-Review

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Liberty Tunnel overnight closures to continue through Thursday - Tribune-Review

Liberty County joins together for Peace Initiative – WSAV-TV

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HINESVILLE, Ga. (WSAV) The Liberty County branch of the NAACP and the Liberty County Minority Chamber held a Peace Initiative on Tuesday Aug. 15 in Hinesville.

The event was held in response to the deadly rally in Charlottesville. In a letter to community leaders, the NAACP said the prayer vigil was to let the people of Liberty County know they stand for peace and unity. The letter went on to say while the event wont completely stop the nations issues, it does show willingness to come together.

Graylan Quarterman, president of the Liberty County NAACP said, They did not ask for the tragedy or the folks that came to their community to divide their community. They could easily get on a plane on a train or a bus and come to our community and try to divide us. But as long as we continue to have the conversation that unity is important and sympathizing with those who are less fortunate than us we will stay strong in Liberty County.

The Liberty County NAACP will also hold a mass community meeting to discuss race, religion and politics. That meeting will take place next Sunday, Aug. 27 at 6 p.m. at Mount Zion Missionary Baptist Church.

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Liberty County joins together for Peace Initiative - WSAV-TV

Liberty Center fiscal officer retires – Defiance Crescent News (subscription)

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LIBERTY CENTER Tuesdays Liberty Center Village Council meeting marked the end of an era for fiscal officer Sally McEwen. It was the last council meeting in her 33-year career, and Friday is her last day in office.

The office of clerk-treasurer was an elected position when McEwen began with the village. In 2002, a new state law gave municipalities the option of appointing a fiscal officer rather than have the elected office. Liberty Center made the switch, and McEwen was hired. Her retirement plans include spending more time with her grandchildren.

Kris Carico, current water clerk, has been chosen to follow McEwen in the fiscal officer position.

Marissa Dooley was approved at Tuesdays meeting as the new water clerk. Caricos position is effective Friday, Dooleys will begin tomorrow.

Moving on, council approved an increase in appropriations of $2,500 for the cemetery fund. Mayor Max Fetterman said the increase reflects the amount of work being done there.

Fetterman also announced that Mosquito Dunks have been made available for distribution at the village offices. Placed in standing water, the dunks are said to kill mosquito larvae for 30 days or more.

He also advised that village residents may notice replacement work on some radio read water meters. Meters marked with either blue flags or blue paint have been damaged, allowing standing water in the pits, and are being replaced at no cost to the village.

In village projects, Fetterman said the application process for the Issue II funding for improvements on Young Street, Edison Lane, and West Cherry Street is moving forward. He also discussed the need for a sewer vac, which is considered by village workers to be more useful than a backhoe. It is costly, with used units at $50,000 and a new unit at $300,000 or more.

Henry County CIC has requested a meeting Aug. 23 at 3 p.m. with all township and village officials.

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Liberty Center fiscal officer retires - Defiance Crescent News (subscription)

Libertarian Party to White nationalists: Get out – Central Florida News 13

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By Christie Zizo, Digital Media Producer Last Updated: Tuesday, August 15, 2017, 7:28 PM EDT ORLANDO --

The National Libertarian Party says it stands for freedom for all, but it won't stand for white nationalists.

The party, considered the fastest growing third party in the country, issued a statement Tuesday asking any white nationalists who belong to the party to leave.

"There is no room for racists and bigots in the Libertarian Party," said Libertarian National Committee executive director Wes Benedict. "If there are white nationalists who inappropriately are members of the Libertarian Party, I ask them to submit their resignations today. We dont want them to associate with the Libertarian Party, and we dont want their money. Im not expecting many resignations, because our membership already knows this well."

Benedict says the Libertarian Party supports civil liberties, regardless of ethnicity, religion, gender or sexual orientation. The party also believes in open borders, racial diversity and free trade -- things he says white nationalists abhor.

The statement comes in the wake of a white nationalist rally in Charlottesville that turned violent as protesters engaged with some counterprotesters and one suspected white nationalist drove his car into a crowd of counterprotesters, killing one and injuring 19.

Among the headliners of that "Unite the Right" Rally was Augustus Invictus, who ran for U.S. Senate as a Libertarian in 2016.

At the time his candidacy caused a stir. Florida Libertarian Party Chairman Adrian Wyllie resigned his post because he believed Invictus was a white nationalist who believed in eugenics wanted to start a civil war. Invictus denied the charge.

On Invictus' Twitter account, he describes himself as "the Most Dangerous Libertarian in America."

Invictus announced he was leaving the Libertarians in July for the Republican Party. He announced Tuesday he is running as a Republican candidate for Senate in Florida in 2018, though his name does not yet show up in the listing on the Florida Division of Elections website.

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Libertarian Party to White nationalists: Get out - Central Florida News 13

George Smith: Life on Maine islands is inspiring – Kennebec Journal & Morning Sentinel

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Maine islands are very special but challenging places to live year-round. In the last 100 years weve gone from 300 to just 15 year-round island communities.

So were especially fortunate to have the Island Institute, which focuses much of its attention on island issues and challenges. I love the institutes regular Working Waterfront newspaper, which I receive online, and I learned a lot from their interesting stories in the new edition of their magazine, Island Journal.

In the new edition, I particularly enjoyed Howie Montenkos astonishing photos, using a technique known as light painting. He assembles a crew of islanders at dusk to shine handheld flashlights that paint the scene with light while Monteko creates a long-exposure photo. They are absolutely stunning.

The list of island challenges is lengthy, from no broadband and extremely high energy costs to rising tides and warming oceans to maintaining schools and year-round jobs. Thankfully, the Island Institute is working on all of these challenges.

Ive been intrigued by some of their initiatives to bring efficient energy to the islands. Their Energy Planning for Island Communities Initiative is providing technical resources and tools to communities to help achieve their clean energy goals.

In July of last year experts from the National Renewable Energy Laboratory met with energy leaders and community members on Isle au Haut and Monhegan islands to learn about their priorities and identify cost-effective ways for those islands to transition to clean energy systems. Island Institute also crated the Spark! Fund, a competitive grant program providing awards of up to $2,000 for island and coastal energy projects.

The institutes Aquaculture Business Development Program is helping aspiring seaweed and shellfish farmers get started. Nine new businesses were launched in the first year of this program. In the next five years they expect this project to have an $8.3 million impact on Maines economy.

And I have a friend working in Frenchboro on Long Island as an Island Fellow. The institute has many fellows working on our islands in a variety of jobs and projects, including schools, energy efficiency, town management, fire and safety, elder care, and more.

Their educational programs are very important, including Outer Islands Teaching and Learning Collaborative, scholarships and Island Scholars Network, and Distance Learning Technology. In the latter program, they partnered with tech company EPlus in 2009 and again in 2014 to secure significant USDA-Rural Development grant funds to install cutting-edge teleconferencing and video recording equipment at 24 sites, including Maines island and remote coastal schools and other rural coastal community schools in Alaska and St. John, Virgin Islands. The equipment allows for highly interactive networking among students and connects them to resources at universities and other educational organizations. Wonderful!

Maines islands are life-changing places for many. If you read the Travelin Maine(rs) columns that Linda and I write, you know we love Monhegan island. In the new edition of the Island Journal, theres a great interview with Mott Feibusch, a young man who first visited Monhegan in the summer of 1990 and moved there to live year-round in 2015. When asked if he had a favorite story or memory of Maine, this is what Mott said.

I visited Monhegan for the first time in winter about 10 years ago. I made frames and painted with the artist Ted Tihansky for a couple of weeks. During that time, there was a blizzard on the island, and we ate fresh shrimp from a five-gallon bucket. We also had a Valentines dinner for 12 people, hiked out to Burnt Head and painted the moon rising on found pieces of tile, made bracelets of discarded copper pipe, and torched sculptures and frames chasing an aesthetic unique to Ted. It was a great introduction to the community I had known from only one perspective. Without that experience, I wouldnt be the person I am today.

Today, Mott is the islands third assessor and assistant fire chief. He works for the power company, pours beer at the islands wonderful brewery, and owns a woodworking business. With his partner, Carley Mayhew, Monhegans postmaster, Mott is now roasting coffee, hoping to turn that into a year-round business. Yup, year-round residency on our islands requires lots of jobs.

You can learn more about the Island Institute at http://www.islandinstitute.org. Prepare to be inspired.

George Smith is a writer and TV talk show host. He can be reached at 34 Blake Hill Road, Mount Vernon 04352, or [emailprotected] Read more of Smiths writings at http://www.georgesmithmaine.com.

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George Smith: Life on Maine islands is inspiring - Kennebec Journal & Morning Sentinel

Trust’s solution to Orkney islands abandoned houses – BBC News

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BBC News
Trust's solution to Orkney islands abandoned houses
BBC News
The housing charity Shelter Scotland says Orkney has one of the highest proportions of empty homes in Scotland, taking population into account. Orkney Islands Council has just become the first Scots island authority to appoint an Empty Homes Officer.

and more »

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Trust's solution to Orkney islands abandoned houses - BBC News

Loved wife and mother dies in Cook Islands – Stuff.co.nz

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Last updated22:30, August 16 2017

Sunday Star-Times

The Ministry of Foreign Affairs and Trade is aware of the death of a New Zealander in the Cook Islands.

A much loved Waikato wife and mother has died in the Cook Islands.

Michelle Robertson, aged 37, died while in Rarotonga on Saturday, August 5.

The Ministry of Foreign Affairs and Trade is aware of the death of a New Zealander in the Cook Islands.

"The Ministry is unable to provide information about the matter due to privacy considerations," a MFAT spokesperson said.

READ MORE:Auckland woman dies after horse-riding accident while on honeymoon in Vanuatu

"Goodbyes hurt the most, when the story was not finished," a funeral notice printed in the Waikato Times said.

Robertson was farewelled in a funeral service held at St Peter's Catholic Church in Cambridge on Wednesday, August 16, followed by a private cremation.

-Stuff

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Loved wife and mother dies in Cook Islands - Stuff.co.nz

Tree ‘islands’ nixed in latest Water Street plan – Port Townsend Leader

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Yellow brick roads, arched entranceways and parking garages were among the ideas that members of the public suggested during an open forum for the Water Street Enhancement Project, which is to be built next year.

Dozens of people showed up at the Aug. 10 forum, hosted by the City of Port Townsend, during which members of the public wrote their ideas for the project on Post-it notes and then stuck the notes on a 30-foot-long map. The forum took place at the Cotton Building.

Paul Schutt was one of those who attended. He attached a few Post-it notes himself.

I live right on Water Street where the projects going to be, he said as he pointed to the location of his home on the map.

Its going to be a good thing. Its an extension of what we did at the other end of the street, he said.

Schutt said he liked what he called the pocket park at the beach end of Tyler Street. The plans right now call for removable bollards to be installed there to block vehicles and make the area more pedestrian-friendly.

Schutt suggested that a water fountain also be built in the pocket park.

Lack of parking is a perpetual complaint, and Schutt suggested that one or two multistory parking garages could be built one of them in the lot behind The Rose Theatre.

The posted comments are to be typed into a spreadsheet and discussed by city personnel, said city engineer Laura Parsons, who was at the event to answer questions. If the person who made the suggestion also left contact information, the city is to contact that person with a response.

The $2.65 million project spans from Taylor Street to the ferry terminal. It is to feature improved sidewalks that comply with the Americans with Disabilities Act, remove an old buried concrete road, replace an old water main and add a new asphalt street, among other actions. Construction is planned to begin January 2018 and be completed by June 2018.

Earlier plans for the Water Street project included a island of trees to be installed in the center of Water Street near the ferry turnoff road, but updated plans shown Aug. 10 do not include that island.

Parsons said eliminating the island from the design would make it easier for vehicles to make turns.

The street is to be designed with 12-foot-wide sidewalks on each side of it. There are to be two 7-foot-wide areas of the street for parallel parking, and two 17-foot-wide traffic lanes are to be located in the center of the street.

The existing center turn lane is to be removed so that the wider traffic lanes can provide more shared use space for bicyclists and cars.

Im a big biker myself. Its totally on my radar screen, Parsons said of bicyclists concerns.

The design also includes an approximately 4-foot-wide dooring zone so that bicyclists dont have to worry as much about having the door of a parked car fly open in front of them.

Parsons said angled parking had been considered, but the idea was rejected in favor of parallel parking.

Lighting at intersections would be provided by two kitty-corner lamps. There is also to be additional lights placed at the midpoint of each block.

This stage of the design is what is called the 30 percent design stage pretty basic, Parsons said. But the 60-90 percent design stage is to include street striping, signage and elevation information, she said.

Were doing some finer tuning at this point, Parsons said.

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Tree 'islands' nixed in latest Water Street plan - Port Townsend Leader

The Boom Piers: How Berlin, NH’s Islands in the Stream Came To Be – New Hampshire Public Radio

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If you find yourself in downtown Berlin, New Hampshire, take a glance at the Androscoggin River. There, in the middle of the water, youll notice a long, straight line of small rocky islands poking through the surface.

Its almost like the Androscoggin, which was the backbone of the citys once-massive paper industry, has its own literal spine.

In this installment of NHPRsseries Surrounded: Stories from New Hampshires Islands, we dig into what these man-made structures were used for.

Listen to the broadcast version of this story.

(Editors note: We recommend listening to this story)

Barry Kelly is driving around a field of waist-high grass in Berlin, like hes a safari guide stalking a rhino.

We can go through this field, and there is a spot down there where we should be able to see some piers.

Hes hunting just east of the Androscoggin River, on the property of his family business, White Mountain Lumber Company. (Were in a red pickup truck; its vanity plate reads LOG.)

Thats one right there covered with trees. And there is another one, he says, pulling up to a clearing on the riverbank.

Kelly is pointing to one of 90 or so small rocky outposts that run up the center of the Androscoggin River: the Boom Piers.

How these islands came to be requires some explanation.

The way to get their product here was to put the wood in the water and float it down, explains Paul Poof Tardiff, a historian and columnist for the Berlin Daily Sun.

To set the scene, Tardiff says picture the banks of the Androscoggin lined with mills. Wood harvested north of Berlin would be dumped into the river, and then, during the annual spring river drive, sent down the waterway.

Each year, hundreds of thousands of cords were shipped this way.

As a matter of fact, there were so many logs in the river, you couldnt throw a line in to fish, says Tardiff.

All that wood, however, had different owners. Big players like the Brown Company and International Paper needed to access what was theirs. So they came up with a plan.

They had to divide the river cause they both had the right to use it, says Kelly. So they built these islands of rock out of hemlock framing, and divided the river.

In the 1890s, these companies started building piers: rectangles of different sizes, but generally around 10 feet wide, made of hemlock timber. They were then filled in with rocks.

It took years to complete, but when finished, these piers stood like a row of traffic cones, spaced a few hundred feet apart, depending on the depth of the river, stretching north for eight miles, where the wood was sorted in Milan.

And when they were built, they had chains hooked to big long logs from one pier to another, and those logs were called booms, explains Tardiff. So thats where we get the name Boom Piers.

Once the Boom Piers were in place, one company could now send its wood down the left lane, the other down the right lane. Other mills, like Barry Kellys own family sawmill, could also use these lanes. It was an organized highway.

But by the early 1960s, the economics of sending wood down the water shifted. Bigger trucks and better roads made autotransport more economical.

According to Poof Tardiff, the last still-floating log was pulled from the Androscoggin in November of 1964. The Boom Piers, since then, have been left to the elements--most of the hemlock surrounding them has disappeared. But the rocky centers still poke up through the water.

We got one up here that has as a nice American flag on it, makes it look good, says Tardiff.

Like vertebrae on the river, the Boom Piers still help give this city its shape.

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The Boom Piers: How Berlin, NH's Islands in the Stream Came To Be - New Hampshire Public Radio

Genetic disorder gets name change, but patient’s father still not happy – Retraction Watch (blog)

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Credit: Online Mendelian Inheritance in Man

The leading genetic disease database has chosen a new name for a genetic condition, following complaints from a man whose son has the condition.

On Aug. 11, 2017, two days after our coverage of the situation, the Online Mendelian Inheritance in Man (OMIM) database changed the primary name of the phenotype associated with mutations in the RPS23 gene. The new name describes a set of features: Brachycephaly, Trichomegaly, and Developmental Delay, or BTDD.

Brachycephaly describes a condition where the back of the head is abnormally flat and trichomegaly refers to extra length, curling, pigmentation, or thickness of the eyelashes.

Marc Pieterse, of the Netherlands, has a son with the rare RPS23 mutation, one of two known patients in the world. The mutation affects ribosomes, cell components involved in protein production. On Aug. 9, we reported on Pieterses crusade against OMIMs original name for the condition, which dubbed it a syndrome. He has feared that calling it a syndrome would stigmatize his sons condition and tried to get the paper underpinning the OMIM entry retracted. The American Journal of Human Genetics has said it will not retract the paper.

Pieterse told us hes only partially pleased the name has been changed hes still unhappy that the original title, MacInnes Syndrome, remains listed as an alternate one.

Initially, OMIM had named the phenotype associated with RPS23 mutations after Alyson MacInnes, a researcher at the University of Amsterdams Academic Medical Center. The name had been selected by OMIM, following a standard procedure of using the last name of the last author of the scientific paper that described the link between the mutation and the set of features.

Pieterse told Retraction Watch that he doesnt think BTDD is a great name, but he likes it much better than the previous one:

I think in the long term, its not describing well what is going on. As an intermediate solution for this naming game, I can live with it. If they want to describe it in this way, I wont be upset about it.

However, OMIM lists MacInnes Syndrome as an alternative title, which Pieterse says he will not endure:

Take out the alternative name. You dont need an alternative name anymore now

I dont think its a big deal for OMIM to leave it out.

OMIM Director Ada Hamosh, a professor at Johns Hopkins University, is on vacation, her assistant told us. When we spoke to Hamosh for our original story, she told us that the names of phenotypes can change, but the database entry is likely to continue displaying past names:

[OMIM] is a complete record of everything that happened.

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Genetic disorder gets name change, but patient's father still not happy - Retraction Watch (blog)

Beating the Odds for Lucky Mutations – Quanta Magazine

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In 1944, a Columbia University doctoral student in genetics named Evelyn Witkin made a fortuitous mistake. During her first experiment in a laboratory at Cold Spring Harbor, in New York, she accidentally irradiated millions of E. coli with a lethal dose of ultraviolet light. When she returned the following day to check on the samples, they were all dead except for one, in which four bacterial cells had survived and continued to grow. Somehow, those cells were resistant to UV radiation. To Witkin, it seemed like a remarkably lucky coincidence that any cells in the culture had emerged with precisely the mutation they needed to survive so much so that she questioned whether it was a coincidence at all.

For the next two decades, Witkin sought to understand how and why these mutants had emerged. Her research led her to what is now known as the SOS response, a DNA repair mechanism that bacteria employ when their genomes are damaged, during which dozens of genes become active and the rate of mutation goes up. Those extra mutations are more often detrimental than beneficial, but they enable adaptations, such as the development of resistance to UV or antibiotics.

The question that has tormented some evolutionary biologists ever since is whether nature favored this arrangement. Is the upsurge in mutations merely a secondary consequence of a repair process inherently prone to error? Or, as some researchers claim, is the increase in the mutation rate itself an evolved adaptation, one that helps bacteria evolve advantageous traits more quickly in stressful environments?

The scientific challenge has not just been to demonstrate convincingly that harsh environments cause nonrandom mutations. It has also been to find a plausible mechanism consistent with the rest of molecular biology that could make lucky mutations more likely. Waves of studies in bacteria and more complex organisms have sought those answers for decades.

The latest and perhaps best answer for explaining some kinds of mutations, anyway has emerged from studies of yeast, as reported in June in PLOS Biology. A team led by Jonathan Houseley, a specialist in molecular biology and genetics at the Babraham Institute in Cambridge, proposed a mechanism that drives more mutation specifically in regions of the yeast genome where it could be most adaptive.

Its a totally new way that the environment can have an impact on the genome to allow adaptation in response to need. It is one of the most directed processes weve seen yet, said Philip Hastings, professor of molecular and human genetics at Baylor College of Medicine, who was not involved in the Houseley groups experiments. Other scientists contacted for this story also praised the work, though most cautioned that much about the controversial idea was still speculative and needed more support.

Rather than asking very broad questions like are mutations always random? I wanted to take a more mechanistic approach, Houseley said. He and his colleagues directed their attention to a specific kind of mutation called copy number variation. DNA often contains multiple copies of extended sequences of base pairs or even whole genes. The exact number can vary among individuals because, when cells are duplicating their DNA before cell division, certain mistakes can insert or delete copies of gene sequences. In humans, for instance, 5 to 10 percent of the genome shows copy number variation from person to person and some of these variations have been linked to cancer, diabetes, autism and a host of genetic disorders. Houseley suspected that in at least some cases, this variation in the number of gene copies might be a response to stresses or hazards in the environment.

In 2015, Houseley and his colleagues described a mechanism by which yeast cells seemed to be driving extra copy number variation in genes associated with ribosomes, the parts of a cell that synthesize proteins. However, they did not prove that this increase was a purposefully adaptive response to a change or constraint in the cellular environment. Nevertheless, to them it seemed that the yeast was making more copies of the ribosomal genes when nutrients were abundant and the demand for making protein might be higher.

Houseley therefore decided to test whether similar mechanisms might act on genes more directly activated by hazardous changes in the environment. In their 2017 paper, he and his team focused on CUP1, a gene that helps yeast resist the toxic effects of environmental copper. They found that when yeast was exposed to copper, the variation in the number of copies of CUP1 in the cells increased. On average, most cells had fewer copies of the gene, but the yeast cells that gained more copies about 10 percent of the total population became more resistant to copper and flourished. The small number of cells that did the right thing, Houseley said, were at such an advantage that they were able to outcompete everything else.

But that change did not in itself mean much: If the environmental copper was causing mutations, then the change in CUP1 copy number variation might have been no more than a meaningless consequence of the higher mutation rate. To rule out that possibility, the researchers cleverly re-engineered the CUP1 gene so that it would respond to a harmless, nonmutagenic sugar, galactose, instead of copper. When these altered yeast cells were exposed to galactose, the variation in their number of copies of the gene changed, too.

The cells seemed to be directing greater variation to the exact place in their genome where it would be useful. After more work, the researchers identified elements of the biological mechanism behind this phenomenon. It was already known that when cells replicatetheir DNA, the replication mechanism sometimes stalls. Usually the mechanism can restart and pick up where it left off. When it cant, the cell can go back to the beginning of the replication process, but in doing so, it sometimes accidentally deletes a gene sequence or makes extra copies of it. That is what causes normal copy number variation. But Houseley and his team made the case that a combination of factors makes these copying errors especially likely to hit genes that are actively responding to environmental stresses, which means that they are more likely to show copy number variation.

The key point is that these effects center on genes responding to the environment, and that they could give natural selection extra opportunities to fine-tune which levels of gene expression might be optimal against certain challenges. The results seem to present experimental evidence that a challenging environment could galvanize cells into controlling those genetic changes that would best improve their fitness. They may also seem reminiscent of the outmoded, pre-Darwinian ideas of the French naturalist Jean-Baptiste Lamarck, who believed that organisms evolved by passing their environmentally acquired characteristics along to their offspring. Houseley maintains, however, that this similarity is only superficial.

What we have defined is a mechanism that has arisen entirely through Darwinian selection of random mutations to give a process that stimulates nonrandom mutations at useful sites, Houseley said. It is not Lamarckian adaptation. It just achieves some of the same ends without the problems involved with Lamarckian adaptation.

Ever since 1943, when the microbiologist Salvador Luria and the biophysicist Max Delbrck showed with Nobel prize-winning experiments that mutations in E. coli occur randomly, observations like the bacterial SOS response have made some biologists wonder whether there might be important loopholes to that rule. For example, in a controversial paper published in Nature in 1988, John Cairns of Harvard and his team found that when they placed bacteria that could not digest the milk sugar lactose in an environment where that sugar was the sole food source, the cells soonevolved the ability to convert the lactose into energy. Cairns argued that this result showed that cells had mechanisms to make certain mutations preferentially when they would be beneficial.

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Beating the Odds for Lucky Mutations - Quanta Magazine

Why we should all embrace gene editing in human embryos – The Hill (blog)

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The first report of gene editing in viable human embryos performed in the United States was published. The landmark study demonstrates that gene editing technology can successfully repair faulty genes in the human germline a scientific term that refers to sperm or egg cells, zygotes, and embryos.

Correcting gene mutations in the germline is powerful because any such modifications are inherited by subsequent generations in a fixed, self-perpetuating configuration. To many, this represents the Holy Grail of modern medicine.

The ability to edit genes at the germline level brings immense prospects for human health and welfare. Clinical applications that have only ever existed in science fiction are now within the realm of reality. Scientists have developed basic tools that may soon be used to prevent a myriad of debilitating and fatal genetic diseases including Cystic Fibrosis, Tay-Sachs, certain types of cancer, and hereditary forms of Parkinson's Disease, Amyotrophic Lateral Sclerosis (ALS), and Alzheimer's Disease.

Despite the vast potential for good, gene editing for clinical purposes is controversial. Jennifer Doudna, a gene editing pioneer, stated she is "uncomfortable" with the clinical applications of the technology. She and others have previously argued for a moratorium on germline editing citing unknown risks, safety, and efficacy concerns.

However, the latest germline editing report suggests that many of the concerns against future use of gene editing technologies for gene repair in human embryos may be premature and overstated. The study sought to correct a mutated version of the MYBPC3 gene, which causes hypertrophic cardiomyopathy, a heritable disease that leads to sudden cardiac failure, often in young athletes.

The study revealed that co-injecting the CRISPRCas9 system and sperm carrying the faulty MYBPC3 into healthy donor eggs corrected the pathogenic mutation. Importantly, the researchers overcame many of the problems associated with editing of human embryos that Chinese teams have experienced since 2015.

By injecting the gene editing system before the first cell division, the researchers discovered that mosaicism a characteristic of embryos that have a mix of edited and unedited cellscould be avoided. This strategy led to highly precise and accurate editing, as evidenced by the lack of unintended off-target mutations in the embryos' genomes.

Progress aside, germline editing is not yet ready for primetime. Further research and considerable technology optimization are essential prerequisites for clinical use. Laws that prohibit clinical trials may be reconsidered, in due course, as the technology develops. That all takes time.

Researchers know this. Unfortunately, scientific progress is frequently susceptible to sensationalism.

Unjustified debates concerning germline editing often conjure up eugenics. Alluring and frivolous claims that reproductive technologies will inevitably be used to create tall, beautiful, superhuman geniuses with superb athletic abilities circulate ad nauseam. The myth of "designer babies" has become an emblem of misinformation.

Never mind that the quest to uncover specific intelligence gene(s) has proven to be an exercise in futility. Research shows that, while heritable, highly polygenic traits those determined by multiple genesare often determined by the collective contribution of hundreds of genes. For instance, hundreds of genetic variants in at least 180 genetic loci have been reported to influence height in humans.

Knowledge concerning the genetics of complex polygenic traits is vastly incomplete. The notion that scientists can tinker with a few genes let alone hundreds of them simultaneously, and know precisely how such manipulation will affect an individual is simply preposterous at this time. And it will likely remain so during our lifetimes.

That scientific fact favors gradual and thoughtful measures including legislation and policymakingto address actual concerns raised by germline editing. Entertaining dubious hypotheticals is a dangerous endeavor. And seeking to ban a technology over far-fetched contingencies is bad policy.

So be skeptical when encountering views that aver humans are entering a Brave New World. Be skeptical when scientific progress is reduced to a Frankenstein-like fable engineered to pollute thoughtful debate. The designer baby canard must be confronted.

We are indeed entering a new exciting world. One in which human ingenuity can and will be used to eradicate disease and suffering by pushing the boundaries of knowledge.

We should all embrace this momentous time in human history.

Paul Enrquez is a lawyer and scientist. His work focuses on the intersection of science and law and has been featured in legal and scientific journals. He explores gene editing as it relates to eugenics and the genetics of human intelligence in his recently published article "Genome Editing and the Jurisprudence of Scientific Empiricism."

The views expressed by contributors are their own and not the views of The Hill.

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A Start-Up Suggests a Fix to the Health Care Morass – New York Times

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But perhaps the most interesting and potentially groundbreaking company created in connection with the Affordable Care Act is Aledade, a start-up founded in 2014 by Farzad Mostashari, a doctor and technologist who was the national coordinator for health information technology at the Department of Health and Human Services in the Obama administration.

Aledade, which has raised about $75 million from investors, has an agenda so ambitious it sounds all but impossible: Dr. Mostashari wants to reduce the cost of health care while improving how patients are treated. He also wants to save the independent primary care doctor, whose practices have been battered by the perverse incentives of the American health care system.

And here is the most interesting part: His plan is working.

A few weeks ago, I visited two primary care practices in southeast Kansas that have worked with Aledade for more than a year. Their operations had been thoroughly remade by the company. Thanks to Aledade, the practices finances had improved and their patients were healthier. On every significant measure of health care costs, the Aledade method appeared to have reduced wasteful spending.

The whole idea is to align incentives between society and doctors and patients, Dr. Mostashari said, adding that Aledade has helped reduce hospital readmissions and decrease visits to specialists in many of its markets. Were reducing unnecessary and harmful utilization and improving quality of care.

Of course, such promises are not new at the intersection of health and technology. Many companies have made big bets and blown up among them Theranos, the lab testing start-up, which turned out to have been more puffery than product. Aledade faces its own share of hurdles, including whether its investors can ride out a long and costly expansion before it starts to realize any big paydays.

Still, its plan which mainly involves using software to achieve its goals looks promising.

The American health care system is a fragmented archipelago, with patients moving through doctors offices and hospitals that are often disconnected from one another. As a result, many primary care physicians who often see themselves as a kind of quarterback who calls the shots on a patients care have no easy way to monitor a patients meandering path through the health care system.

Aledades software addresses that by collecting patient data from a variety of sources, creating a helicopter view. Doctors can see which specialists a patient has visited, which tests have been ordered, and, crucially, how much the overall care might be costing the health care system.

More important, the software uses the data to assemble a battery of daily checklists for physicians practices. These are a set of easy steps for the practice to take call this patient, order this vaccine to keep on top of patients care, and, in time, to reduce its cost.

For example, say youre a doctor at a small practice in rural Kansas and one of your patients, a 67-year-old man with heart disease, has just gone to the emergency room.

In the past, wed only find out our patients were at the hospital maybe weeks afterward, said Dr. Bryan Dennett, who runs the Family Care Center in Winfield, Kan., with medical partner, Dr. Bryan Davis. With Aledade, Dr. Dennett is now alerted immediately, so we can call them when theyre at the emergency room and say, Hey, what are you doing there? Come back here, we can take care of you!

It is not just emergency room visits. Aledade tells doctors which of their patients is eligible for preventive care like vaccines or an annual wellness visit. The doctors said that during such visits they have discovered several conditions that would have ballooned into much bigger problems without treatment. The software lets doctors know when their patients have been discharged from the hospital, allowing them to schedule transitional care management visits.

Such visits are a gimme for the health care system they have been proved to reduce hospital readmissions (which are extremely costly), and patients say they find them valuable in navigating the health care system. And because these visits are so effective at lowering overall health care costs, Medicare pays doctors a higher rate to provide such care meaning that primary care doctors can make money by following Aledades alerts.

Yet even though Aledade thinks of itself as a technology company, its doctors said its software is the least interesting thing it does. Independent primary care doctors tend to be cautious about technology, especially if it seeks to thoroughly alter how they work. So the real battle Aledade faces is to integrate technology into doctors practices and to do so in an nonintrusive and pleasing way. The softwares instructions must also prove financially rewarding for clinics, while still somehow saving money for the overall health care system.

To do all this, Aledade which now operates in 15 states and has relationships with more than 1,200 doctors has had to become more than a software company. It has hired a battalion of field coordinators who visit practices and offer in-depth training and advice.

The company has also taken advantage of several health care ideas that were introduced or accelerated by the Affordable Care Act. One of these is known as the accountable care organization, or A.C.O., which lets groups of health care providers unite to coordinate care for a patient. Studies have shown that such a structure lowers overall medical costs; under the Affordable Care Act, Medicare encouraged the formation of these organizations by promising to share any savings it realizes with doctors. Aledade took the accountable care organization idea and made it its primary business model. (The structure was reaffirmed by a 2015 law passed overwhelmingly by Congress, so a repeal of the Affordable Care Act would not have affected its structure.)

For Aledade, the upshot is that it will only make a lot of money if it actually succeeds in reducing health care costs.

Say Medicare thinks that its going to spend $100 million next year on our patients in Kansas, Dr. Mostashari said. A lot of this is from bad stuff hospitalization, complications, you know, bad stuff. So we come in and say, if we can work with the primary care doctors to reduce bad things from happening while increasing quality, then we can save money for Medicare. Medicare says we thought we were going to spend $100 million on those patients, and we only spent $90 million. So, Medicare keeps half of the savings, and the other half of it goes to Aledade which we split with the doctors.

In addition to Medicare, Aledade has begun signing up several commercial health insurance companies under similar cost-savings plans. But given that the company gets paid only when it cuts health care costs (while improving health outcomes), Aledade and its investors are making a gamble.

In its first year of operation, for instance, Aledade managed to cut many costly procedures, yet its savings did not meet Medicares benchmark meaning it realized virtually no revenue from the savings program.

The results for its second year are due in October. This time, because Aledade said its savings grow over time, the company is likely to begin making money. Were very confident in our model, Dr. Mostashari said.

Email: farhad.manjoo@nytimes.com; Twitter: @fmanjoo

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Health care: Without subsidies, premiums will soar – The Business Journals

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Health Care in New York – New York Times

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Photo A man in Miami in 2015 directed passers-by to an insurance company where they could sign up for health coverage under the Affordable Care Act. Credit Joe Raedle/Getty Images

To the Editor:

Re How to Repair the Health Law (Its Tricky but Not Impossible) (front page, July 30):

The basic flaw in the Affordable Care Act is that it leaves us in the hands of insurance companies. That means rising premiums and deductibles, restricted provider networks and high out-of-network charges; huge multiple administrative bureaucracies and profits; and the costs that doctors and hospitals incur for dealing with them.

We should start with a basic principle: No American should be denied health care or suffer financially trying to pay for it. What makes that tricky and forces health policy into contortions is insisting on taking care of insurance companies and their hefty costs and finances.

The one way to provide all of us with health care and financial security that is most practical and least expensive is to take insurance companies out of the picture and enact improved Medicare for all.

Washington seems a long way from doing that. But progressive states like New York can create state universal public health coverage.

RICHARD N. GOTTFRIED, NEW YORK

The writer is chairman of the New York State Assembly Health Committee and the sponsor of the New York Health Act (A. 4738) to establish a single-payer system in New York.

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Health Care in New York - New York Times

Pearce recounts health care bill process, praises HMS – Silver City Daily Press and Independent

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U.S. Congressman Steve Pearce, of New Mexicos 2nd District, visited Hidalgo Medical Services on Monday to celebrate National Health Center Week and to explain Republican attempts to repeal and replace the Affordable Care Act Obamacare and his role therein.

The Republicans attempt to replace the health care act this summer was largely secretive, long foreseen and eventually unsuccessful. But it had eyes glued to screens across the world. And, according to Pearce, was as tumultuous as it seemed from afar.

Pearce explained to a group of HMS higher-ups, and local and state dignitaries what steps he took during Congress part in the process and why. He was especially vocal about why he held out against the House Republicans original bill.

If you were watching carefully, you would know that I was one of the 34, shrinking down to 25, to 24 votes of Republicans standing against the Republican bill, he said. I did that because I feel the Affordable Care Act is in the process of turning inward, and you never know if its going to collapse or not.

Pearce claimed that high costs and low penalties have led many young healthy people to bail out of the Affordable Care Act, which in turn has driven costs even higher. He also said that most health care exchanges, established on the taxpayers dime, had gone bankrupt, and lost many large insurers like Anthem and Blue Cross Blue Shield.

Even so, he said the original Republican bill was even worse. So, he refused to vote in its favor, earning the ire of President Donald Trump.

There are definitely problems, but the first bill was going to be worse off, Pearce said. So I got sent to the principals office, with the principal. You know from TV, hes powerful and you dont want to be close to him in opposition.

There, too, Pearce claimed he did not fold.

So, I am sitting there and hes saying, I need your vote, the congressman began in a play-by-play. It wasnt a question of whether the bill was good or bad, it was just I need your vote. I said, Sir, Im not going to give it to you. He [Trump] said, You didnt hear me. I want your vote. I said, I have 700,000 voting for me. I represent them, not New York. You dont vote for New Mexico. He was pretty gracious right then, but then Tweeted that he was going to get someone to run against me in the primary, so he can be pretty mercurial.

He said, though, that he believes certain Republicans determination eventually taught the president humility, or at least tempered his hubris.

Hes come to the realization, I think, that he cannot give orders and it occur, Pearce said.

Pearce said this is the second time his refusal to play along with his party has gotten him the cold shoulder. He said former Republican House Speaker John Boehner told him he was not a good team player.

So, if youve ever been placed in the outer darkness of the political sphere, I can describe in detail what it looks like, Pearce said. Thats OK, because Im still there. Mr. Boehner is not.

Southern New Mexicos congressman said that the House Republicans next attempt was only modestly better than the first, but that he had trusted in the system to get the right bill once all was said and done. So, he voted with the Republican majority to pass it on to the Senate.

There, he said on Monday, he hoped that the Senate would make changes and send the bill to a committee of both houses to come up with a final, and better, version he would be happy with. But, in an 11th-hour vote, Sens. Susan Collins (R-ME) and Lisa Murkowski (R-AK) preceded Arizona Sen. John McCain in defeating the bill. Pearce criticized McCains actions as obstructing progress for personal reasons.

So, the vote that Mr. McCain made hes the one that later said, Lets see if he makes America great again now it appeared to be a personal vote, Pearce said. What it did was, it shut the process down. We dont have 60 votes to get it to the floor. And we have one bill a year we can take to the floor with 51 votes, its called reconciliation. It has to fit within very specific categories and this was the one bill. So when he cast the vote to stop the bill, he shut it down. You can talk about the bill for the rest of the year, you can not vote on it, but once you vote, it shuts down.

Pearce said he could not predict the repeals future.

Democrats will quietly agree in Congress that there are problems, he said. But now the process has shut down and theres no other vehicle to carry it. I dont know what will happen to it. Its just how the process works. The Founding Fathers wanted something where it was hard to pass legislation and they succeeded.

But, he attempted to calm any concerns HMS personnel had about the health center allocations he and the states other, Democratic, caucus members in Washington, D.C., have secured over the past decades.

Of all the sausage making, appropriations are the messiest, so I wont describe in detail how those are made, he said. But, know that your funding is going to be OK.

Democratic Sens. Martin Heinrich and Tom Udall could not make it to the celebration of Health Center Week on Monday, but sent along reps and videos praising the work HMS does and promising their support.

Pearce was on a break from the campaign trail for governor of New Mexico on Monday. He said that, so far, his team has focused on sowing name recognition in the two congressional districts he does not represent in the state, north of U.S. 40, which requires much travel and at least six hours on the phone per day.

Benjamin Fisher may be reached at ben@scdailypress.com.

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What can genetic testing really tell you? – Popular Science

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Once difficult and expensive even for the most technologically advanced labs, genetic testing is fast becoming a cheap and easy consumer product. With a little spit and 200 dollars, you can find out your risk for everything from cystic fibrosis to lactose intolerance.

But its important to remember that not all genetic tests are created equal. And even the best clinical genetic test, carried out in a medical lab under a doctor's supervision, isn't perfectgenes are important, but they don't seal your fate.

Genetic tests are diagnostic, so anyone who is curious about their health can get one done. But they're more informative if you think you might be at risk for a genetic disorder.

Heavy-duty genetic tests have been used as a clinical tool for almost half a centurylong before 23andMe and Ancestry.com began offering direct-to-consumer tests. Lets say that many women in your family have had breast cancer. You can get a genetic test to see if you may have inherited an abnormal version of the BRCA gene, known to increase your risk for breast cancer.

Heidi Rehm, associate professor of pathology at Harvard Medical School, is the director of the Laboratory for Molecular Medicine, where patients get tested for diseases that can be traced to specific genetic roots. She says it is most common for people to get tested when they either suspect or know that they have a genetic disease; it may have affected multiple people in their family or they could show symptoms of something widely known to be genetic, like sickle cell anemia. For these people, genetic tests can provide a much-needed explanation for an illness and help doctors determine the best course of treatment. Babies are often tested for genetic diseases, either while they are still fetuses or shortly after birth.

Others get genetic tests if they and their partner both have family histories of an inherited diseaseeven if they dont have the disease themselves. For example, cystic fibrosis is linked to one particular gene, but you have to inherit the abnormal version of the gene from both your parents to get the disease. If you only inherit one copy, you may never knowyou wont display any of the symptoms. But if you and your partner both carry one copy of the faulty gene, your child could still inherit two copies. Genetic tests can forewarn you of that possibility.

But Rehm says there has been a recent trend of healthy people getting tested to predict whether theyll get certain diseases. I do think there are settings where predictive genetic testing is incredibly important and useful, Rehm says; for example, knowing that youre at risk for breast cancer gives you the opportunity for early intervention (remember when Angelina Jolie got a double mastectomy upon finding out she had a mutated BRCA gene?)

But Rehm also points out that genetic tests may not be as straightforward as they seem. For example, some genes are thought to increase risk of getting a certain disease, but it might only happen if you have specific family history, or you might be able to reduce your risk with lifestyle changes. So remember that a genetic test isnt the final verdictthere are other factors at play too.

Not entirelyits scope is limited. For starters, not all diseases are caused by genes. Plenty of conditions stem from environmental and lifestyle factors; they may interact with your genes, but the external factors are the real trigger.

But even if a disease is caused solely by faulty instructions written in your genes, you wont necessarily be able to test for it. Thats because genetic tests are mainly used for diseases that are penetrant, a term that scientists use to describe a strong connection between having a certain gene (or multiple genes) and getting a disease.

Genetic tests are surprisingly simple on the surface. All thats required of you is a small sample of cells, like a blood sample or saliva (which doesnt have DNA itself, but picks up cheek cells during its journey out of your mouth). It get sent to a lab where sequencing machines match up small pieces of synthetic DNA with your DNA to figure out the overall sequence.

Once they have your sequence, geneticists can compare it with "normal" or disease-causing sequences. In the end, they might give you a yes or no answer, or sometimes youll get a probabilitya measure of how much your genes increase your risk of developing the disease. Then, its up to your doctor to figure out what these genes (in combination with your lifestyle, family history and other risk factors) mean for your health.

With penetrant diseases, theres a very, very high ability to explain the disease, Rehm says. For example, the breast cancer-related gene BRCA1 can give you a 60 percent chance of getting breast cancer (in Jolies case, with her family history, the risk was 87 percent.)

This makes genetic tests better at detecting so-called rare diseases, says Steven Schrodi, associate research scientist at the Marshfield Clinic Research Institutes Center for Human Genetics, but theyre less useful when it comes to more common diseases, like heart disease or diabetes. Genetics can increase your likelihood of getting these disease, but scientists still dont know quite how much. Part of the problem is that there may be dozens or hundreds of genes responsible for these diseases, Schrodi says.

We have an incomplete understanding of why people get diseases, Schrodi says. A large part of it hinges on how we define diseases. Perhaps physicians have inadvertently combined multiple diseases together into a single entity.

Consumer genetic teststhe ones where you send in samples from homesometimes claim to test for these more complex traits, but be careful: Their results might not be very medically relevant, Rehm says. If they tell you that your genes make you twice as likely to develop diabetes, for example, that's a marginal increase that doesn't significantly affect your risk, especially when you take into account lifestyle factors.

Genes do seem to play a role in determining lifespan. After all, some family reunions stretch from great-great-grandparents all the way down to infants. Scientists have studied centenarianspeople who lived to be 100 years oldand found that people with certain versions of genes involved in repairing DNA tend to live longer.

This makes sense because aging leaves its mark on your DNA. Environmental factors can damage DNA, and even the routine chore of replicating cells can introduce errors as the three billion units of your DNA are copied over and over. Long-lived individuals have different sequences that seem to make their cells better at keeping DNA in mint condition.

But figuring out your expiration date is more complex than just testing for a few genes, says Jan Vijg, professor of genetics at Albert Einstein College of Medicine. In theory, you could design a test that looks at specific genes that might measure your risk for developing Alzheimers Disease or other age-related diseases, or your risk for aging quickly. To some extent, yes: Biomarkers will tell you something about your chances of living a long life, Vijg says. Still, that will only work if you live a careful life. And that means no accidents, infections, or cancers.

Aging also affects the exposed ends of your DNA, called "telomeres." DNA is stored as chromosomes, those X-like structures that you may have seen in biology textbooks. The most vulnerable parts of the chromosome are the chromosomes tips, which get shorter as you age because they arent properly replicated. But while telomere length might let you compare your DNA now with your DNA from a decade ago, you cant compare your own telomeres with other peoples telomeres. Theres a lot of variation between individuals, Vijg says. Some of us are just old souls (on the genomic level, that is.)

The methylation test, which looks at how the presence of small chemical groups attached to your DNA changes as you age, might be a better bet. A study at UCLA showed that changes were slower in longer-lived people. But Vijg is hesitant: I would not put my hopes on that as a marker to predict when exactly youre going to die.

For now, just enjoy your life, because you cant predict death. And if you decide to unlock the secrets of your DNA with an at-home test, don't take those results for more than their worth.

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Active non-coding DNA might help pinpoint genetic risk for psychiatric disorders – Medical Xpress

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August 16, 2017 by Anna Williams Northwestern Medicine scientists used induced-human neurons (pictured here in green) derived from patient stem cells. The synaptic proteins, or connections, are marked in cyan and red. Credit: Northwestern University

Northwestern Medicine scientists have demonstrated a new method of analyzing non-coding regions of DNA in neurons, which may help to pinpoint which genetic variants are most important to the development of schizophrenia and related disorders.

Peter Penzes, PhD, the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral Sciences, was a lead author of the study, published in the journal Cell Stem Cell. Marc Forrest, PhD, a post-doctoral fellow in Penzes' laboratory, was the first author.

Over the last decade, large genetic studies have identified thousands of genetic variants associated with mental disorders. Most of these risk variants, however, are found within non-coding regionsparts of DNA that do not encode for proteinswhose function in disease development has been poorly understood.

"Ten years ago, there was very little known about the genetic basis of mental disorders like schizophrenia. Now the problem is the opposite: we have too many genes," Penzes said. "Studying each variation one by oneand how it contributes to actual diseaseis difficult, so methods to reduce that number can be very useful. And that's what this study did."

The scientists demonstrated that by mapping out open chromatin regions in neurons derived from human stem cells, they could identify active non-coding DNA that contain a key subset of psychiatric risk variants that are most relevant to disease.

While the model was demonstrated in schizophrenia, the same method could be applied to other mental disorders as well, such as autism spectrum disorders or bipolar disorder.

Developing such a technique is critical to help scientists in the field concentrate their efforts on investigating the most important variants.

The findings also deepen the overall understanding of how such non-coding regions affect disease.

As a case study, the scientists used the new model to analyze thousands of risk variants that have been associated with schizophrenia and narrowed it down to a small list of key variants, of which they chose one to investigate.

They then used the gene-editing tool CRISPR to alter that risk variant into a variant not associated with disease, and demonstrated that the change had an effect on the connectivity of the cell, suggesting it played a role in neurodevelopment.

"In the past, these non-coding regions have been called 'junk DNA' because there was this misconception that they had no function," Forrest said. "With this kind of technique, we're starting to understand how non-coding regions can affect disease risk, even if they have more indirect roles than the actual protein-coding regions."

In the future, the model using human neurons from induced stem cells could also serve as a valuable tool to screen potential drugs for such disorders, and discover which ones result in changes in the neuronal phenotype, Penzes said.

Explore further: Defect in non-coding DNA might trigger brain disorders such as severe language impairment

More information: Marc P. Forrest et al. Open Chromatin Profiling in hiPSC-Derived Neurons Prioritizes Functional Noncoding Psychiatric Risk Variants and Highlights Neurodevelopmental Loci, Cell Stem Cell (2017). DOI: 10.1016/j.stem.2017.07.008

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On Aug. 3, the scientific article in Nature finally gave us some facts about the much-hyped experiments that involved editing the genomes of human embryos at the Center for Embryonic Cell and Gene Therapy at Oregon Health and Science University. The story had broken in late July in Technology Review, spurring profuse hand-wringing and discussion. But until we saw the scientific paper, it was not clear what cells and methods were used, what genes were edited, or what the results were.

Now we know more, and while the paper demonstrates the possibility of genome editing of human embryos, it raises more questions than it answers. It is a useful demonstration of technical promise, though not an immediate prelude to the birth of a genome-edited baby. But the process by which the news emerged is also an ominous harbinger of the discombobulated way the debate about genetically altering human embryos is likely to unfold. We need open, vigorous debate that captures the many, often contradictory, moral views of Americans. Yet what we are likely to get is piecemeal, fragmented stories of breakthroughs with incomplete details, more sober publication in science journals that appear later, news commentary that lasts a few days, and very little systematic effort to think through what policy should be.

The science underlying this news cycle about human genome editing builds on a technique first developed six years ago by studying how bacteria alter DNA. CRISPR genome editing is the most recent, and most promising, way to introduce changes into DNA. It is faster, easier, and cheaper than previous methods and should eventually be more precise and controllablewhich is why it may one day be available for clinical use in people.

Though headlines about the study discussed designer babies, researchers prefer to emphasize how these techniques could help stop devastating genetic disorders. The Oregon experiments with human embryo cells corrected disease-associated DNA variants associated with heart muscle wasting that can cause heart failure. The treated embryos were alive for only a few days and were never intended to become a human baby. They were, however, human embryos deliberately created for the research.

U.S. guidance in this area is sparse and reflects the lack of societal consensus. In 1994, when the federal government was contemplating funding for research involving human embryos, the NIH Embryo Research Panel concluded that just this kind of experiment was ethically appropriate. But within hours of that reports release, then-President Bill Clinton announced he did not agree with creating embryos in order to do research on them.

The United States currently has just two policies relevant to genomic editing of human embryos. The first blocks federal funding: On April 28, 2015, Francis Collins, director of the National Institutes of Health, stated, NIH will not fund any use of gene-editing technologies in human embryos. This is not embedded in statute or formal executive order, but members of Congress are fully aware of it and it is, in effect, a federal policy. NIH can (and does) fund genome editing of nonembryonic cells that might be used to treat cancer and for other possible therapeutic purposes, but not embryonic cells that would have their effect by creating humans with germline alterations.

Second, Congress has prohibited the Food and Drug Administration from reviewing research in which a human embryo is intentionally created or modified to include a heritable genetic modification. This language comes from a rider to FDAs annual appropriations. Yet use of human embryonic cells for treatment should be subject to FDA regulation. So this language in effect means alterations of embryonic cells cannot be done in the United States if there is any intent to treat a human being, including implantation of an altered embryo into a womans uterus. This will remain true so long as the rider is included in FDAs annual appropriations. The federal government thus has two relevant policies, both of which take federal agencies out of the action: One removes NIH funding, and the other precludes FDA oversight of genome-edited human embryos.

This leaves privately funded research that has no direct therapeutic purpose, such as with the Oregon experiments. The funding came from OHSU itself; South Korean Basic Research Funds; the municipal government of Shenzhen, China; and several private philanthropies (Chapman, Mathers, Helmsley, and Moxie). The research complies with recommendations to study the basic cellular processes of genome editing, keeping an eye on possible future clinical use but only so long as the work does not attempt to create a human pregnancy.

By coincidence, on the same day the Nature paper came out, the American Journal of Human Genetics also published a thoughtful 10-page position statement about germline genome editing from the American Society for Human Genetics endorsed by many other genetic and reproductive medicine organizations from all over the world. It reviews recommendations of the National Academies of Sciences, Engineering, and Medicine, several international and U.S.-based organizations and commissions, and makes several recommendations of its own, concluding it is inappropriate to perform germline gene editing that culminates in human pregnancy, but also there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications. Indeed, the statement argues for public funding. Finally, it urges research to proceed only with compelling medical rationale, strong oversight, and a transparent public process to solicit and incorporate stakeholder input.

So is there a problem here? It is truly wonderful that medical and scientific organizations have addressed genome editing. It is, however, far from sufficient. Reports and scientific consensus statements inform the policy debate but cannot resolve it. All of the reports on genome editing call for robust public debate, but the simple fact is that embryo research has proven highly divisive and resistant to consensus, and it is far from clear how to know when there is enough thoughtful deliberation to make policy choices. Its significant that none of the reports have emerged from a process that embodied such engagement. The Catholic Church, evangelical Christians, and concerned civic action groups who view embryo research as immoral are not likely to turn to the National Academies of Sciences, Engineering and Medicine, the American Society for Human Genetics, the Hinxton Group, the Nuffield Council on Bioetics, or other scientific and medical organizations for their primary counsel. They may well listen to scientists, but religious and moral doctrine will get greater weight. Yet religious groups highly critical of embryo research are part of the political systemand whether we embrace this sort of genome editing in the United States is a political question, not a purely technical one.

Reports and scientific consensus statements inform the policy debate but cannot resolveit.

Addressing the political questions will be extremely difficult. The U.S. government is poorly positioned to mediate the policy debate in a way that recognizes and addresses our complex moral pluralism. NIH and FDA are two of the most crucial agencies, but current policies remove them from line authority, and with good reason, given that engaging in this debate could actually endanger the agencies other vital missions. International consensus about genome editing of human embryos remains no more likely than about embryo research in general: Some countries ban it while others actively promote and fund it. Private foundations dont have the mandate or incentive to mediate political debate about a controversial technology that rouses the politics of abortion. What private philanthropic organization would willingly take on such a thankless and politically perilous task, and what organization would be credible to the full range of constituencies?

So who can carry out the public engagement that everyone seems to agree we need? The likely answer is no one. This problem occurs with all debate about fraught scientific and technical innovations, but its particularly acute when it touches on highly ossified abortion politics.

The debate about genomic editing of human embryos is unlikely to follow the recommendations for systematic forethought proposed by illustrious research bodies and reports. Given the reactions weve seen to human embryonic stem-cell research in the past two decades, we have ample reason for pessimism. Rather, debate is more likely to progress by reaction to events as researchers make newsoften with the same lack of information we lived with for the last week of July, based on incomplete media accounts and quotes from disparate experts who lacked access to the details. Most of the debate will be quote-to-quote combat in the public media, leavened by news and analysis in scientific and medical journals, but surrounded by controversy in religious and political media. It is not what anyone designing a system would want. But the recommendations for robust public engagement and debate feel a bit vacuous and vague, aspirations untethered to a concrete framework.

Our divisive political system seems fated to make decisions about genomic editing of human embryos mainly amidst conflict, with experts dueling in the public media rather than through a thoughtful and well-informed debate conducted in a credible framework. As the furor over the Oregon experiments begins to dissipate, we await the event that will cause the next flare-up. And so it will continue, skipping from news cycle to news cycle.

History shows that sometimes technical advances settle the issues, at least for most people and in defined contexts. Furor about in vitro fertilization after Louise Brown, the first test tube baby, was born in 1978 gave way to acceptance as grateful parents gave birth to more and more healthy babies and welcomed them into their families. Initial revulsion at heart transplants gave way in the face of success. Anger about prospects for human embryonic stem-cell research might similarly attenuate if practical applications emerge.

Such historical examples show precisely why reflective deliberation remains essential, despite its unlikely success. Momentum tends to carry the research forward. Yet at times we should stop, learn more, and decide actively rather than passively whether to proceed, when, how, and with what outcomes in mind. In the case of genome editing of human embryos, however, it seems likely that technology will make the next move.

This article is part of Future Tense, a collaboration among Arizona State University, New America, and Slate. Future Tense explores the ways emerging technologies affect society, policy, and culture. To read more, follow us on Twitter and sign up for our weekly newsletter.

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Listening for the Public Voice - Slate Magazine