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My son died of cancer: Why I’m celebrating his birthday with stem cell awareness – DailyO

Grief is a personal matter.Each of us has our own mechanisms to copethere is no format set in stone, there are no boundaries. For me, the week leading up to my son Arjan Vir’s birthday has always been the most difficult to deal with.

I am overwhelmed by a well of emotions: On the one hand, there are all those happy memories, so much excitement building up to planning those wonderful birthday parties themes to be decided, lists to be made, cards to be distributed, menus, games and oh, the return gifts one mustn’t forget and then this sudden feeling of hollowness, the sinking depths of which words cannot describe.

Beyond words

I lost my 26-year-old son Arjan Vir to Leukaemia in 2012. Arjan was one of those hugely social people with an enviable optimism about him he loved to have people around him and had the enormous ability to attract people, make friends and share his life with them. His friendships were deeply honest and truly meaningful, there was nothing hollow about them. Those around Arjan loved his happy-go-lucky nature and his laidback attitude towards life.

Losing Arjan did not just leave us his family and friends with an irrevocable sense of vacuum, it was felt by the many lives he had touched in some way or the other. Photo:Simi Singh

My son never lost his ability to make friends despite the battle he was fighting with cancer. Arjan had a battalion of friends in the hospital: ward boys, nurses, lab technicians and resident doctors could be seen about his room whenever they had spare time; some asking for advice on which phone to buy, to have the odd computer issue sorted, if nothing else, just to watch him play computer games.

Losing Arjan did not just leave us his family and friends with an irrevocable sense of vacuum, it was felt by the many lives he had touched in some way or the other.

An intensely sensitive child, Arjan worried more about others than himself he was an avid reader, wrote beautiful poetry and had an imagination that went beyond words.

His passion for computer games had pre-determined his career options, he had decided to study computer graphics and 3D computer animation. Even at the hospital, as he underwent treacherous rounds of chemotherapy, cycle after cycle, his imagination worked overtime planning some game or the other based on his treatment.

Knowing BMT

A Leukaemia patient, Arjan needed a bone marrow transplant (BMT). In a layperson’s terms, BMT means that the unhealthy bone marrow is killed under highly sanitised conditions by giving the patient very high doses of chemotherapy and radiation and replaced by a healthy bone marrow. That sounds perfectly simple, but bone marrow transplant remains a complicated and dangerous procedure.

What consequences does that come with?

For the uninitiated, bone marrow is the soft tissue where all our vital blood components RBCs, WBCs, platelets, plasma and stem cells are formed. Killing one’s bone marrow essentially means there is no immunity left to take care of our body.

Where does the healthy bone marrow come from if we are to attempt to rid the body of cancer?

There are two broad types of BMT: Autologous where the unhealthy bone marrow from our body is removed, worked upon or mutated and replaced, and the allogenic transplant in which another person’s healthy bone marrow replaces our own.

With the second type of transplant come incredible complications and the daunting task of finding the donor bone marrow that must replace ours: one needs to find another person whose DNA is identical to ours. The first and most obvious choice, of course, would be a sibling.

However, the chances of finding the identical DNA HLA typing that matches your siblings’ is only 1:4, and if such a match isn’t possible, where do we go?

In Arjan’s case, our younger son’s HLA typing did not match, and the chances of finding an unrelated donor match were one in a million.

This was the worst possible news we could get, worse than the news of Arjan being diagnosed with Leukaemia.

How does one find an identical HLA typing match in this whole world where do you start, whom do you turn to?

[Photo: Weill Cornell Medecine]

Discovering stem cell registry

In 2012, there were no substantial HLA typing registries in India unlike in developed countries, which maintain nationwide registries that are linked to the worldwide bone marrow registry.

The doctors guided us to approach All India Institute of Medical Sciences (AIIMS) while AIIMS did not have a significant registry of its own, it had a membership with the World Marrow Donors Association (WMDA), and hence could do a worldwide search to find an HLA match for Arjan.

However, institutes likeAIIMS have become desensitised to the urgency that such cases demand and we got no response from them.

At the time, Datri in Chennai was the sole functioning stem cell registry it had about 12,000 donors in its data bank, but we did not get a quick response from them either.

Our son’s doctors here told us that we were sitting on a “time bomb” we needed to act swiftly, we could lose no time and that’s when we decided to take Arjan to the US for his further treatment and then, hopefully, a BMT.

Arjan was distressed to discover the situation in India; when he heard about the lack of registries, his first thought was that once he had recovered, he would set up a meaningful registry at home. His biggest concern was: What do the poor do, where do they go?

And so, five years on, the Arjan Vir Foundation was set up in the memory of our very dear son. Our aim is to run a widespread registry that addresses all blood disorders.

We hope to provide assistance at all stages of treatment, recovery, after care, and the rehabilitation and resettlement of patients.

Registering as a donor is easy: any individual over age 18 can become a donor and be a part of the registry till the age of 60, provided they are healthy.

All that one needs is a simple mouth swab test and the consent to donate stem cells when the need arises. The swabs are sent to a highly-specialised laboratory in the US for HLA typing and the results shared with the worldwide registry maintained by WMDA.

Upon finding a match for a patient, the registry contacts the concerned donor.

The process is not complicated, it is exactly like platelet donation, only a few hours longer: avolunteer must undergo a complete medical check-up prior to donating stem cells and is put on stem cell boosting therapy for about four days before the procedure. No incision is involved and the donor does not require hospitalisation.

It just takes one day of your life and busy schedule to save a life.

***

Today, as I sat down to write this article, I also planned another kind of a celebration for Arjan’s birthday on September 6: this year, we are holding a camp to bring about awareness about stem cells and register donors at a university in Noida.

Once again there is excitement, albeit of a different kind one held together with a sense of pathos.

Also read: Memories of my mother that Alzheimer’s can’t wipe clean

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My son died of cancer: Why I’m celebrating his birthday with stem cell awareness – DailyO

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Convoy from Children’s Hospital to La Caada carries precious cargo a 2-year-old bone marrow recipient – Los Angeles Times

On Saturday morning, a convoy of vintage Ford Broncos carrying some very precious cargo made a stop at La Caadas Descanso Gardens.

En route from Childrens Hospital Los Angeles, the motorcade was led by a golden 1971 Bronco with Thousand Oaks resident Tyler Kelly at the helm. Tucked safely into a car seat in the back was 2-year-old Pierce Kelly, known by family and friends as Fierce Pierce, still recovering from a July 21 bone marrow transplant.

At the La Caada home of relatives Donna and Dave McLaughlin, Pierce will recuperate under the watchful eye of mom Aubrey. For 100 days following the procedure, he must reside within a 30-minute drive of Childrens Hospital for monitoring.

Saturdays 13-mile drive was just one portion of a tumultuous journey the Kellys have been on since April 7, when Pierce was diagnosed with acute myeloid leukemia. His chance of surviving the devastating illness with treatment alone was only 50%, according to mom Aubrey. But there was one hope if the Kellys could find a bone marrow donor, Pierces odds would improve by at least another 15%.

We were at the mercy of whoever had registered, Aubrey Kelly recalled.

Among the nearly 13.5 million Americans already listed as donors on the Be the Match Marrow Registry, there were no donors close enough to be a match with Pierce.

Raquel Edpao, a community outreach specialist for Be the Match, said on any given day there are 14,000 people like the Kellys, searching registries for a bone marrow match. Its her job to help educate people how simple it is to join the registry and to donate if called.

Potential donors register online at bethematch.org, then receive and turn in a cheek swab. After that, theyre contacted if they are a potential match for someone. Edpao estimates about one out of every 430 registrants will be asked to donate.

There are so many misconceptions about donating, she said, invoking myths about spinal drilling, painful extractions and missed days at work. Its usually as simple as donating blood.

In about 20% of cases donors are asked to undergo a marrow extraction, a 45-minute outpatient procedure involving a general anesthetic.

Luckily for the Kellys, a search of donors worldwide returned a single donor in France whose human leukocyte antigen (HLA) protein was a 10-out-of-10 match with Pierces. While the marrow was shipped, the 2-year-old underwent chemotherapy to destroy most of his damaged stem cells in preparation for the donation.

Its a fine balance of leaving him with enough cells to receive the new ones, but not so many that the new cells dont have enough room to grow, Aubrey Kelly said, explaining how her sons blood type switched from A positive, his own type, to the donors O negative.

Pierces recovery from the transplant requires a sterile environment that means he cannot stay with siblings Sierra, 4, and 6-month-old Harper. Donna McLaughlin, a cousin of Aubrey Kellys dad, said she and husband Dave were happy to offer their home in La Caadas Paradise Valley neighborhood for his recovery.

Ive worked for the past week cleaning my house its never been so clean, she said of her preparation for Pierce and Aubreys 57-day visit. Im being paranoid, I know, but he is going to be OK on my watch.

Knowing he would have to return to Thousand Oaks to take care of Pierces sisters, Tyler Kelly wanted to ensure his sons trip from the hospital would be a special one. The Bronco the same vehicle his mother drove to the hospital in 1981 so he could be delivered, and the same one he and Aubrey have used to get to the delivery room in time for the birth of their own three children seemed a fitting conveyance.

We wanted to continue the tradition, he said.

Hoping to assemble a retinue for the drive, Tyler Kelly reached out to enthusiast club SoCal Broncos and classicbroncos.com. Several people responded, including Agoura Hills Bronco owner Dan Bennett, for whom the cause was personal. About 10 years ago he saved a life by donating his own bone marrow.

To be able to go in and help play an intrinsic role in saving someones life is a really special thing, Bennett said. I think everybody should do it.

sara.cardine@latimes.com

Twitter: @SaraCardine

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Convoy from Children’s Hospital to La Caada carries precious cargo a 2-year-old bone marrow recipient – Los Angeles Times

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Appeal to help firefighter battling cancer caused by clinical trial for Crohn’s disease – Deadline News

A VETERAN firefighter is battling blood cancer caused by taking part in a trial of a new treatment for his Crohns disease.Gary Dall, who has spent almost 30 years saving lives, has an aggressive form of myelodysplasia (MDS) a type of cancer where the bone marrow fails to make enough healthy blood cells.The 49-year-old from Kirkcaldy, Fife, agreed to take part in a clinical trial to cure his Crohns disease seven years ago.Gary says he was advised there was a low risk of developing cancer as a result of the treatment, which involved a transplant of his own stem cells, taking medication and undergoing chemotherapy.Last year, doctors discovered the father-of-fours blood count was low and bone marrow tests showed that he had MDS.The only cure for Gary is for him is to have a second stem cell transplant which he can only have when he finds a suitable donor.Now, the Scottish Fire and Rescue Service and blood cancer charity, The Anthony Nolen Trust are holding a public donor event at Kirkcaldy fire station next weekend to find a donor.Gary, a group manager at Kirkcaldy station, was on medication for Crohns, a long-term condition which causes inflammation of the digestive system and currently affects 115,000 people in the UK.Seven years ago, his medication for the disease stopped working.

Gary said today (thu): I was offered a clinical trial and took it. The trial involved taking medication to increase my blood cells and then chemotherapy.They would have told me about the risks involved but with the state I was in, I cant remember much.The risks for something like this are low.Speaking about the appeal for a second stem cell donor he added: Ive been told theres a 60% chance I will find a match because Im white and British so match a lot of people on the register but the more people that donate, the more will help save others lives too.Gary told his local paper this week: It was just one of those things that a treatment for one disease led to me getting another. Its not nice, but Im just taking things as they come and hoping that a match can be found.When we first found out my family were shocked, and it has taken a bit of getting used to.After hearing that fan Gary was in need of a transplant, members from Raith Rovers Football team signed up to a national bone marrow register.Kirkcaldy fire station will be holding a drive on September 16 to encourage members of the public to join a register to potentially become a bone marrow donor.Healthy people, aged between 16 and 30 are eligible to register to become stem cell donors.They will have to fill out a form and provide a saliva sample on the day but are advised not to eat or drink anything half an hour before attending.There is currently no cure for Crohns disease but medics provide treatment to stop the inflammatory process, relieve symptoms and avoid surgery wherever possible.Past research has shown that patients with Crohns disease of the small and/or large intestine have an increased risk of developing cancer at these areas.Gary, who was diagnosed with Crohns disease 13 years ago, today revealed that the treatment puts 95% of patients into remission. Tragically, he has been left with bith Crohns and cancer.He said the trial was offered via NHS Fife. Called Autologous Stem cell Transplantation International Crohns (ASTIC), the treatment has been undergone by crohns sufferers worldwide.

Today Gary said: The medication I was given wasnt working at all so I was told about about the ASTIC trial instead of having to get my bowels removed.It was an attempt to cure it. 95% of people over the world that have had it go into remission. Unfortunately I was one of the five percent that didnt.Gary said his blood cancer is only curable if he gets a matching donor.He added: The drive isnt just about me though, its about everyone else who could be saved by people getting registered as donors.Treatment would involve destroying Garys own bone marrow cells with chemotherapy before having stem cells from a donor fed into his bloodstream via a drip.Amy Bartlett, Register Development Manager for Scotland at the Anthony Nolan Trust, said: We were deeply saddened to learn about Garys diagnosis, and we will support him in every step of his search for a lifesaving donor.Im looking forward to working with our close partners in the SFRS in Kirkcaldy to recruit even more potential lifesavers to the Anthony Nolan register every person who signs up has the potential to help someone like Gary whos in need of a stem cell transplant.We know from the amazing response to Ava Starks appeal for a lifesaving donor how brilliant the people of Fife, and Scotland, are in rallying behind someone in desperate need.

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Appeal to help firefighter battling cancer caused by clinical trial for Crohn’s disease – Deadline News

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South Bend man a ‘walking miracle’ after cancer treatment breakthrough – South Bend Tribune

Scott McIntyre calls himself a walking miracle, and he wants to tell the world about it.

I was given three to six months to survive and Im 16 months in remission, said the 53-year-old South Bend man. I would love to get the story out and let people have hope. Dont give up. You never know.

On Friday, a University of Chicago Medicine marketing team shot video and still images of Scott at Shamrock Truck Sales, the semi-truck sales and service business he co-owns near LaPaz. His face will adorn billboards, digital and print ads in Chicagoland and northwest Indiana as soon as the U.S. Food and Drug Administration approves what UCM is calling a revolutionary breakthrough in cancer treatment.

If that FDA approval comes and UCM is preparing for it to come very soon UCM will have one of the only facilities in the Midwest certified to administer chimeric antigen receptor T-cell infusion, or CAR T-cell, a newer form of immunotherapy.

Video: CAR T treatment gives hope in cancer fight

In CAR T-cell therapy, a type of white blood cell called T-cells are extracted from the patients blood and modified in the lab to recognize specific cancer cells. These supercharged T-cells are then infused back into the patient, where they search out and destroy cancer cells.

The therapy, often described as a living drug because it is customized with each patients T-cells, will be marketed as Kymriah by Swiss pharmaceutical maker Novartis.

Scott was excited to hear news Wednesday that the FDA approved the same treatment for a form of childhood leukemia, meaning, he hopes, that it won’t be long before it’s approved for his form of cancer, diffuse large B-cell lymphoma. The FDA called the approval “historic” because it marks the first cell-based gene therapy approved in the United States.

Scott is one of 130 patients nationally in the clinical trial for his form of lymphoma, and he was the first to receive the treatment at UCM. That happened in May 2016, when he had exhausted all other options.

Scott has been feeling good for just less than a year. Chemotherapy has taken his hair three times but he has a full head of it once again. He can play an entire round of golf with his son. An avid Notre Dame football fan and season ticket holder, he had to miss each game in 2015, but plans to attend every game this season.

In May 2013, Scott noticed a painful growth in his groin area. His family doctor, Dr. Joseph Caruso, said he had developed a swollen lymph node, which could have resulted from his body trying to fight off an infection. Caruso asked him if he had recently had an infection, and Scott recounted recently stepping on a rusty nail while the roof on his home was being replaced. Caruso prescribed an antibiotic and the swelling seemed to go away.

But four months later, while in the shower, Scott noticed another lump under his arm. He went back to Caruso, who referred him to South Bend-based Beacon Health System oncologist Dr. Thomas Reid. After some scans, Reid diagnosed Stage 3 lymphoma.

Reid administered the standard treatment, four cycles of a chemotherapy regimen known as R-CHOP, an effective but highly toxic blend of drugs causing severe side effects. The fourth cycle had to be delayed because he developed appendicitis, and it was tougher than the first three.

After all of that, the cancer started growing again just two months later.

Reid referred him to Dr. Sonali Smith, professor of medicine and director of UCMs lymphoma program. Smith and her team knew the CAR T-cell therapy was being investigated in a few select centers. Their short-term goal was to keep him alive until they could be cleared to administer the clinical trial.

In February 2015, Scott received a stem-cell transplant, which went smoothly. But three months later, the cancer again started growing. Participation in two more clinical trials and some precisely targeted radiation therapy bought a little more time, but by late 2015, his lymphoma was gaining on him.

Then, in early February 2016, the UCM team received the go-ahead for the CAR T-cell treatment and began harvesting his T cells, a process that resembles dialysis. Scott said another patient had been slated to receive the treatment first, but that patient died.

It was during an appointment in May 2016, just a week before the treatment, that Scott first grasped how close he was to dying. Smith told him the treatment could cause severe side effects, including death. Five people in the trial had died.

I said, I understand. What other options do I have? Scott recalled. She says, Oh youve already surpassed all expectations. I said, What do you mean by that? And thats when she said, after the stem cell, if it comes back, life expectancy is six months. It was a rough day. On the way home I was pretty shaken up.

A little after 9:30 a.m. on May 18, 2016, Scott, sporting a Notre Dame baseball cap, was prepared for the treatment. Carefully observing was Dr. Michael Bishop, professor of medicine and director of the Hematopoietic Cellular Therapy Program at UCM, and about a dozen members of his team. A technician brought in his modified T-cells, thawed them out and infused them into Scott intravenously.

Ten minutes later, the treatment was finished. Afterward, he and his wife Cindy spent 28 days in the hospital and then were required to live in an apartment within 10 minutes of the university hospital. They were allowed to move back home to South Bend in July, about two months after the treatment.

Its incredible, Cindy said of Scotts recovery thus far. We did not realize what we were getting into, all of the risks, until days before. She (Dr. Smith) may have mentioned it but it didnt sink in. We both realized that win, lose or draw, theyre going to learn so much, just from how he responds to it.

Cindy praised how well Drs. Reid and Smith worked together between South Bend and Chicago, and how they told them just enough to be informed without telling them so much that they panicked.

She said, theres this trial, Cindy said. This is for you. You were designed for this trial and it was designed for you. We just have to keep you going until we can give it to you.

The treatment was on a Wednesday. By Friday night, his first fever came and it wasnt a surprise. Once they enter the body, each T cell multiplies rapidly, producing thousands of offspring. Then they launch a vigorous assault. All of that warfare occurring inside the body can cause severe flu-like symptoms: fever, swelling, low blood pressure.

On Sunday his fever spiked to 104 degrees. They packed him in ice around his neck and under his arms, and managed to break the fever without sending him into intensive care.

He also experienced some neurological effects, including tremors, cognitive delays and blurred vision.

Now, more than a year later, Smith still wants to see Scott every three months, and he remains very susceptible to infections because his immunity will always be compromised not from the CAR T-cell but from all of the chemotherapy. He still has some swelling because the scar tissue from three surgeries restricts the flow of lymphotic fluids.

I feel it all the time and I have very limited range of movements but it doesnt stop me, he said.

Unless the lawn needs to be mowed, then it really bothers him, she said. Some things will never change.

She said she never imagined she had married a pioneer.

I knew I had married somebody very unique, very special, but definitely not a pioneer, she said. He was the last person you ever thought would be sick. Doesnt drink. Doesnt smoke. Never had ventured on the wild side. This wasnt supposed to happen.

So far the FDA has only approved T-cell treatments for blood cancers, such as lymphoma and leukemia, but not solid tumor cancers, such as breast and colon cancer, which kill many more people. But Bishop of UCM said that day is coming. He expects those clinical trials to begin within a year or two, and receive FDA approval within about five years.

Its very exciting, Bishop said. The technology is a little more complicated but it has the potential to treat a broad spectrum of cancers. Ive been doing this for 25 years and this is one of the most significant advances Ive seen in my career.

Meanwhile, Scott will keep telling his story of hope to everyone he can, including himself. Bishop said Scott’s cancer has a 10- to 20-percent chance to recur.

Youre still thinking that the other shoe can drop, Scott said. The mantra I use when negative thoughts enter my head is, Alright Scott, are you giving up? No. Are you quitting? No. Then shut up. I dont know if that will ever go away.

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South Bend man a ‘walking miracle’ after cancer treatment breakthrough – South Bend Tribune

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Existing drugs may shield women from infertility after cancer – Futurity: Research News

An existing drug may one day protect pre-menopausal women from the infertility that commonly follows cancer treatments.

Women who are treated for cancer with radiation or certain chemotherapy drugs are often unable to have a baby later. A 2006 study showed that nearly 40 percent of all female breast cancer survivors experience premature ovarian failure, in which they lose normal function of their ovaries and often become infertile.

Women are born with a lifetime reserve of oocytes, or immature eggs, but those oocytes are among the most sensitive cells in the body and may be wiped out by cancer treatments.

The new study, published in Genetics, builds on earlier research that identified a so-called checkpoint protein (CHK2) that becomes activated when oocytes are damaged by radiation.

CHK2 functions in a pathway that eliminates oocytes with DNA damage, a natural function to protect against giving birth to offspring bearing new mutations. When the researchers irradiated mice lacking the CHK2 gene, the oocytes survived, eventually repaired the DNA damage, and the mice gave birth to healthy pups.

The new study explored whether the checkpoint 2 pathway could be chemically inhibited.

It turns out there were pre-existing CHK2 inhibitor drugs that were developed, ironically enough, for cancer treatment, but they turned out not to be very useful for treating cancer, says senior author John Schimenti, professor of biomedical sciences and molecular biology and genetics at Cornell University.

The one major concern is thatits conceivable that they harbor mutations that will become manifested in a generation or two

By giving mice the inhibitor drug, a small molecule, it essentially mimicked the knockout of the checkpoint gene, says graduate student Vera Rinaldi, the papers first author.

By inhibiting the checkpoint pathway, the oocytes were not killed by radiation and remained fertile, enabling birth of normal pups.

The one major concern, Schimenti says, is that even though these irradiated oocytes led to the birth of healthy mouse pups, its conceivable that they harbor mutations that will become manifested in a generation or two, because we are circumventing an evolutionarily important mechanism of genetic quality control. This needs to be investigated by genome sequencing.

When doctors recognize the need for oocyte-damaging cancer treatments, women may have their oocytes or even ovarian tissue removed and frozen, but this practice delays treatment. Also, when women run out of oocytes, their bodies naturally undergo menopause, as their hormonal systems shift.

That is a serious dilemma and emotional issue, Schimenti says, when you layer a cancer diagnosis on top of the prospect of having permanent life-altering effects as a result of chemotherapy, and must face the urgent decision of delaying treatment to freeze oocytes at the risk of ones own life.

The study sets a precedent for co-administering this or related drugs and starting cancer therapy simultaneously, though such interventions would first require lengthy human trials.

While humans and mice have different physiologies, and there is much work to be done to determine safe and effective dosages for people, it is clear that we have the proof of principle for this approach, Schimenti says.

The National Institutes of Health funded the work.

Source: Cornell University

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Existing drugs may shield women from infertility after cancer – Futurity: Research News

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Women Are Key To History Of Human Migration, Bones Show – International Business Times

Women were the adventurers of the early Bronze Age, moving around Europe and spreading culture as they went.

Thats the finding of a new study in the Proceedings of the National Academy of Sciences that used DNA to trace the origins of people who died in an area called the Lechtal, a valley in southern Germany and western Austria. Researchers analyzed the remains of 84 people buried there between 2500 and 1650 BCE, finding that most of the women had originally come from other places but migrated to the Lechtal as adults and were integrated into the society.

The scientists looked at both the womens genetics and the chemical makeup of their bones different geographical areas leave behind different signatures in their inhabitants.

With the genetic analysis, we see a great diversity of different female lineages, which would occur if over time many women relocated to the Lech Valley from somewhere else, researcher Alissa Mittnik said in a statement from the Max Planck Institute for the Science of Human History.

The isotope analysis, done on their molars, showed levels of the element strontium that also indicate the women were not from the area.

This woman was not born in the Lechtal but she was integrated into the society and buried there. Photo: Stadtarchologie Augsburg

Even though they were newcomers to the Lechtal, probably migrating from central Germany or from Bohemia, the western part of Czechia, the women were fully integrated, establishing families and later being buried in local cemeteries, which were linked to individual homes, in the same way the native people were. Over the generations, there could have been dozens of people buried in these cemeteries.

The men, on the other hand, usually stayed in the same area where they were born. This type of immigration pattern is known as patrilocal.

According to the researchers, the pattern of men staying put and women migrating into the Lechtal continued for hundreds of years in the villages along this fertile valley, as the Europeans were moving from the Stone Age to the Bronze Age.

The movement of the females may have played a significant role in the exchange of cultural objects and ideas, which increased considerably in the Bronze Age, in turn promoting the development of new technologies, the institute said. From an archaeological point of view, the new insights prove the importance of female mobility for cultural exchange in the Bronze Age.

The findings also tell scientists a little more about how humans moved around the continent during those prehistoric times.

Most of the women buried in prehistoric cemeteries in the Lechtal were foreigners to the community who were integrated into the society. Photo: Stadtarchologie Augsburg

Clues about those migrations are cropping up all the time, in more than just skeletons. Another study recently showed how people settled across Eurasia when they analyzed a wooden chest found in the Swiss Alps dating back to the early Bronze Age and found it contained the remnants of grains, including wheat. It helps to fill a gap in understanding about the beginning of agriculture and the diets of ancient people moving across the continents.

The genetic and isotope analysis performed on the bones of the women buried in the Lechtal are also helping to close a gap in information.

Individual mobility was a major feature characterizing the lives of people in Central Europe even in the third and early second millennium, lead researcher Philipp Stockhammer said in the statement. It appears that at least part of what was previously believed to be migration by groups is based on an institutionalized form of individual mobility.

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Eddie Izzard planning more marathons – Divine.ca

Eddie Izzard will be running more marathons.The 55-year-old comedian and actor who ran 27 marathons in 27 days last year has revealed he will be donning his running shoes again in the future as he admitted the challenge he underwent in 2016 was very tough going.Speaking exclusively to BANG Showbiz at the UK premiere of Victoria and Abdul at the Odeon in Leicester Square, he said: Well I am doing more marathons but cannot say anything as of yet. There will be more marathons, there will be more languages, there will be more films I am going to make. It was very tough.The double marathon on the last day, 11 hours and 5 minutes running, that was not easy but I got the picture on my watch. I got about 6500 calories burned in that one day and ran at 7.6km an hour. It is a long way to run it. But I got it done. It is a salute to Nelson Mandela as well. The generosity of the UK public; in the end, we got about 2.6 million.Meanwhile, Eddie previously revealed he cant bear it when people refer to him as a transvestite a person who dresses in clothes appropriate to the opposite sex because he has female genetics.He explained: Im not a transvestite. I have some of the same genetics as women, so Im transgender. When I see a pair of nice heels, I think, Yeah that could work. That could be kind of fun, kind of sexy. Anyone can feel that. Were obsessed with the differences between someone with a penis and someone with a vagina. Everyone should calm down and take a chill pill.

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Eddie Izzard planning more marathons – Divine.ca

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Unwanted Facial Hair? Here’s How To Get Rid Of It – Huffington Post Australia

When it comes to female facial hair, there are awesome women like Harnaam Kaur who wear their hair with pride, and there are others want it removed ASAP.

Neither approach is wrong, but it’s safe to say the latter is the more common.

But what actually causes female facial hair, and what are the best ways to safely remove it?

Getty

There are many different factors that can contribute to a woman experiencing some facial hair growth, and they range from hormonal imbalances (which can be quite severe) to genetics.

“It’s actually very common, and most of the time people don’t see it as a medical problem,” Dr Adrian Lim, a spokesperson for the Australasian College of Dermatologists, told HuffPost Australia. “And the causes are simply racial and genetics.

“There are certain races which are more prone to facial hair, for example, Chinese and Japanese people might be more hairless and then you have southern Indians who might be more susceptible.

“But many social and cultural groups where is considered normal don’t see it as problem at all.”

Harnaam Kaur is a body confidence activist who wears her beard with pride.

“It is one of those things that does become more common around menopause, where sometimes a woman will develop coarse dark hairs on her top lip or chin or neck,” CPCA spokesperson Dr Mary Dingley told HuffPost Australia.

“With younger people it’s more of a genetic thing, and race can have an impact. Mediterraneans, so Greeks and Italians, and some Spanish people, and certainly Indian ladies tend to suffer from this a lot more than people from northern European climates.”

Another contributing factor could be polycystic ovaries, which can result not only in facial hair but other problems such as acne.

This really depends on what sort of hair you have, how much there is and the reason as to why you have it.

“For someone with polycystic ovaries, there are other things to consider, such as trying to lose some weight if that’s an issue,” Dingley said. “You’d also look at the skin to see what was going on in terms of acne and oil control.

“For some people, even the contraceptive pill can be a useful thing, but that’s something to be discussed with your doctor.

“For most people, they just have hair and that’s their genetic make up or time of life.”

Sebastien_B via Getty Images In some cases, the contraceptive pill can help.

The simplest methods, which are appropriate if you don’t have much hair, can be DIY jobs you can do in the comfort and privacy of your own bathroom without too much worry.

“I mean obviously if it’s just one hair or two, pluck them out,” Dingley said. “Though this can be a bit difficult if your eyesight isn’t so good.

“For ladies getting older this can be more difficult as time passes, though you can get good magnifying mirrors these days.”

Other obvious options include bleaching and waxing, though those with sensitive skin may run into problems.

“For some people the bleaching and waxing irritates their skin too much, and threading can cause ingrown hairs, meaning you end up with this lumpy pustular thing as well as the hair,” Dingley said.”Then of course the hair is still coming through.

“While these methods are simple to perform, they still have possible side effects and they certainly don’t offer long-term solutions. [The area of concern] will need constant maintenance.”

Getty Images/iStockphoto Waxing is one short-term option, but it is painful and can cause irritation or ingrown hairs.

Still, for many people it’s enough to get by. Where things become more complicated is if the above methods aren’t working for some reason, or the hair growth is too much for an individual to handle.

“For some of the ladies who have almost a full on beard, it’s not really something they can deal with themselves,” Dingley said. “We also see transgender ladies who are looking to remove their facial hair permanently.”

This is where something like a laser treatment steps in, but Dingley is keen to stress it’s not for everybody.

“It needs to be done properly and well with the skin type and hair type in mind,” she said. “Lasers work on the colour [of your skin] so darker skin types need to be careful.

“And the lighter and finer the hair, less likely it is for the treatment to be successful. For those who have light hair or colourless peachfuzz hair, it’s not going to work.

Getty Images Spending time in the sun? Hold off on your laser treatment.

“The ideal person for laser treatment has paper white skin and coarse black hair. Which is actually pretty rare.”

It’s not a one-stop fix, either, with patients having to return for subsequent treatments, though Dingley says in most cases they should start seeing results after three to four sessions.

“We can target specific hairs or we can do the full on beard. Obviously it will be a bigger treatment if you have more hairs there, and obviously the times for each person vary,” she said.

Dingley also cautions against side effects and says anyone with a suntan needs to hold off on their laser treatments for a couple of days until the tan “settles down”.

“I think it’s important to warn people there can be side effects and complications, the most common one being a burn,” she said. “That’s why we really try to encourage people to go to someone who knows what they are doing and who understands skin types and hair.

“Not some backyard operator flashing lightbeams around who doesn’t understand the potential consequences.

“It’s also important to keep the sun off the area, protect yourself from the sun, and don’t go and get a treatment if you have a tan.

“It really is that important.”

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Unwanted Facial Hair? Here’s How To Get Rid Of It – Huffington Post Australia

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China-based Grand Fan Group acquires leading French skincare brand – Markets Insider

GUANGZHOU, China, Sept. 5, 2017 /PRNewswire/ — Chinese Grand Fan Group formally signed the agreement to acquire the French CICABEL brand on September 4th. Grand Fan Group is openly optimistic about CICABEL’s technology and development prospects, while the investment into the French brand represents the first step in the execution of the strategy behind the group’s entry into the skin care market. The signing ceremony took place in France.

Santinov is a 130-year-old French traditional pharmaceutical manufacturer founded in 1887. Santinov created and launched the CICABEL Mask, a three-step revitalizing and hydration face mask set using stem cells as the principal component, following years of research and development on the back of strong technological competence. At variance with traditional skin care products, the set is expected to become a disruptor and transform the public’s expectations from the beauty industry.

A Grand Fan Group executive said “By adopting the management and operations model commonly deployed by international brands, we put in place partnerships with several leading international beauty and health brands based on our own brand, achieving a diversified brand scenario as well as access to advanced technology R&D. These moves will serve to offer more and better choices to consumers.”

With the enhancement of the general public’s awareness of skin care, traditional skin care products no longer meet the basic expectations and needs of consumers. Brands with an ill-defined image or a hodge-podge of seemingly unrelated products, uneven quality, inadequate supervision and other issues have led the industry to be subject to a high level of criticism. To add insult to injury, most traditional skin care products actually do little for the skin. In line with accepted biotechnology and medical standards, the CICABEL Mask is expected to reverse the perception.

Through the activation of skin stem cells, the mask provides nutrition that penetrates deep into the dermis and promotes the regeneration of new cells, delivering an in-depthreplenishment effect. Put in another way, CICABEL uses the body’s own multifunctional cells to achieve a new level of skin beauty. The CICABEL Mask from France is expectedto become the “Terminator” of traditional masks available in the market.

CICABEL will formally go on sale in China soon, with plans for roll outs in several global markets shortly thereafter.

Contact: +86-400-639-1958, rel=”nofollow”>hantao@1958difo.com

View original content with multimedia:http://www.prnewswire.com/news-releases/china-based-grand-fan-group-acquires-leading-french-skincare-brand-300513684.html

SOURCE CICABEL

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China-based Grand Fan Group acquires leading French skincare brand – Markets Insider

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This New, Cutting-Edge Treatment Could Be the End of Baldness – Reader’s Digest

docent/ShutterstockWhether or not theres a scientific benefit to being baldwell let the follically challenged among us be the judge of thatscientists continue to search for a balding cure. According to UCLA researchers, that isnt completely out of the question. A team, led by Heather Christofk, PhD, and William Lowry, PhD, found a new way to activate the stem cells in the hair follicle to make hair grow. Their findings, published in the journal Nature Cell Biology, may lead to new drugs to promote hair growth or work as a cure for baldness or alopecia (hair loss linked to factors like hormonal imbalance, stress, aging or chemotherapy).

Working at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, the researchers discovered that the metabolism of the stem cells embedded in hair follicles is different from the metabolism of other cells of the skin. When they altered that metabolic pathway in mice, they discovered they could either stop hair growth, or make hair grow rapidly. They did this by first blocking, then increasing, the production of a metabolitelactategenetically.

Before this, no one knew that increasing or decreasing the lactate would have an effect on hair follicle stem cells, says Dr. Lowry, a professor of molecular, cell and developmental biology, as reported on ScienceDaily. Once we saw how altering lactate production in the mice influenced hair growth, it led us to look for potential drugs that could be applied to the skin and have the same effect.

Two drugs in particularknown by the generic designations of RCGD423 and UK5099influenced hair follicle stem cells in distinct ways to promote lactate production. The use of both drugs to promote hair growth are covered by provisional patent applications. However, they are experimental drugs and have been used in preclinical tests only. They wont be ready for prime time until theyve been tested in humans and approved by the Food and Drug Administration as safe and effective. (While youre waiting for a male pattern baldness cure, check out these natural remedies for hair loss.)

So while it may be some time before these drugs are availableif everto treat baldless or alopecia, researchers are optimistic about the future. Through this study, we gained a lot of interesting insight into new ways to activate stem cells, says Aimee Flores, a predoctoral trainee in Lowrys lab and first author of the study. The idea of using drugs to stimulate hair growth through hair follicle stem cells is very promising given how many millions of people, both men and women, deal with hair loss. I think weve only just begun to understand the critical role metabolism plays in hair growth and stem cells in general; Im looking forward to the potential application of these new findings for hair loss and beyond.

This 7-year-old girl living with alopecia will inspire you.

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This New, Cutting-Edge Treatment Could Be the End of Baldness – Reader’s Digest

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What is microneedling and why is the skin treatment so popular? – Miami Herald

Microneedling has quickly become one of the most popular skin rejuvenation treatments. If youre considering trying it, here is what you need to know.

Microneedling, also called collagen-induction therapy, uses small needles that pierce the outermost layer of skin to create tiny microchannels. These microchannels help stimulate the production of collagen and elastin within the skin. They also promote new capillaries.

This can lead to an improved skin texture, reduction of acne or other scarring and help with discoloration, such as brown spots caused by sun damage. Microneedling may be combined with platelet-rich plasma, stem cells, or pure hyaluronic acid to enhance results further.

Microneedling can also be used on the scalp to help stimulate hair rejuvenation.

Prior to your first microneedling session, you will be asked to avoid sun exposure for at least 24 hours. Some doctors will tell you to avoid blood-thinning medications and herbal supplements like aspirin, ibuprofen and St. Johns wort to reduce bruising.

Each microneedling session takes about 20 to 30 minutes. First, your face will be cleansed and a numbing cream will be applied. Multiple treatment sessions, spaced a few weeks apart, are recommended. Most doctors recommend three to six treatments but many will notice an improvement in the tone and texture of their skin after just one treatment.

Immediately after your microneedling session, you will likely notice some redness that can last for several days. In my practice, we recommend that patients do not touch their face for at least four hours after treatment and do not apply anything to the face for 24 hours. It is crucial to avoid sun exposure for three days after the procedure.

You should avoid strenuous activity and exercise for the first 12 hours after treatment to prevent redness and bruising. For the first three days after treatment, you should use a gentle non-foaming cleanser, a barrier repair moisturizer, and a physical SPF. If swelling or bruising are a concern, you can take arnica supplements both before and after treatment to help minimize these side effects.

Once any redness or swelling diminishes, you should notice an immediate improvement in the way your skin looks and feels. Over the next several weeks, your skins appearance should continue to improve.

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What is microneedling and why is the skin treatment so popular? – Miami Herald

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Want To Live Longer? Life Extension Drugs On Horizon; How They Work – Medical Daily

Imagine taking a pill that couldextend your lifespan. This plotline exists in the pages of science fiction novels, but a class of drugthat supports healthy aging, known as a senolytic drug, is currentlybeing tested, and if proven safe, could do more than add years to your life.A new studywhich showed the drugs preventedage-related bone loss in micehas important implications in treating a host of other diseases related to aging, researchers said.

Cells constantly divide, a process that allows us to grow and heal, but as we age, some cellsstop dividingand become senescent. These cellsalsoemit toxins that contribute to a number of health conditions such as cancer, dementia, and arthritis. The older we are, the more of these senescent cells we accumulate. Enter senolytic drugs.

These drugs are designed toclearaway senescentcells while leaving adjacentcells unharmed. According to the research,published online in Nature Medicine, these drugssupported healthy aging in mice and prevented bone loss. Considering that clearing senescent cells improves cardiovascular function and reduces frailty and other issues, this treatment could have important implications for treating not only osteoporosis, but other age-related problems, the authors wrote.

In a related article, the authors alsodescribea new screening platform to better identifyother potential senolytic drugs, which would help us address age-related conditions as a group, instead of one at a time.

“The emerging repertoire of senolytic drugs shows that they are having an impact on a huge range of diseases,” said study researcher Dr. James Kirkland in a recent statement. “Our goal is to achieve the same success in humans as we have in preclinical animal models in efforts to prevent or delay the conditions associated with aging.”

Moving forward, the researchers would like to further explore the potential of these drugs and figure out optimal drugcombinations forthe best results. Though”median lifespan” or “healthspan” aredifficult endpoints to determine in research,animal trials have given us a good idea of the drugs’ potential therapeutic benefits.

This week has been exciting for the study of human aging and lifespan, as a recent Dutch article claimed to have found the maximum human lifespan:115.7 for women, and 114.1 for men, IFL Science reported. This number is based off a study of 75,000 now-deceased Dutch people, and while the researchers admit that people on average are living longer than before, this ceiling age still remains unchanged.

The research is controversial, with some researchers arguing thatit is possible to live beyond these ages, although rare.

The evidence points towards no looming limit. At present the balance of the evidence suggests that if there is a limit it is above 120, perhaps much above and perhaps there is not a limit at all,Jim Vaupel, a specialist in aging at the Max Planck Institute for Demographic Research in Germany, who wrote a paper criticizing these results, told The Guardian.

Regardless of what the ultimate age may be (or if it even exists), its still exciting that something as simple as a pill mayhelp us reach it. The senolytic drugs still need to be tested in human clinical trials, but according to CNN, it may be time to take that leap.

Source: Farr JN, Xu M, Weivoda MM, et al. Targeting cellular senescence prevents age-related bone loss in mice. Nature Medicine . 2017

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Want To Live Longer? Life Extension Drugs On Horizon; How They Work – Medical Daily

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Want to Age Better? Look to Your Cells – The Good Men Project (blog)

This is paid content as part of a partnership between The Good Men Project and ChromaDex.

Do you feel yourself slowing down recently? Over time, sun exposure, excessive food and alcohol consumption, and jetting between time zones are just a few factors that can depress your metabolism and cellular health.

There is a clinically-studied vitamin that can help reduce the effects of aging and help your cells function like they did when they were younger. Is your metabolism missing this crucial component?

Men and women in their 40s and beyond are turning to a form of vitamin B3 called nicotinamide riboside (NR) to defend against the adverse effects of slowing metabolism.

Dr. Charles Brenner, the Roy J. Carver Chair of Biochemistry at the University of Iowa and the founding co-director of the University of Iowa Obesity Initiative, is responsible for discovering the link between NR and a co-enzyme called NAD+, which is a crucial key to human health.

Dr. Brenner is also the Chief Scientific Advisor behind TRU NIAGEN, the only NR supplement directly from the ingredients patent-holder.

We invite you to read our Q&A with Dr. Brenner to learn more about his discovery, cellular health and why NR should be part of your morning routine.

GMP: What is NR and why do people take it?

CB: NR is a vitamin that maintains and boosts the central regulator of metabolism: NAD+.

NAD+ is required for us to convert our fuels (fats, proteins, and carbohydrates) into the energy we need to move, think and stay in optimal health. NAD+ is also required to protect our DNA and maintain nerve and muscle function.

Levels of NAD+ naturally decline with age. In addition, our levels of NAD+ are challenged by many metabolic stresses including sun and alcohol exposure, toxins, overeating and jetting between time zones. People take NR to maintain their youthful metabolism and resilience as we age and experience stress.

What kind of results can one expect to see from taking NR and in what time period?

People who have started taking TRU NIAGEN report subtle changes in their overall feelings of well-being including improved sleep, consistent energy, improved mental clarity and alertness, and improved skin and digestive health within 2 to 4 weeks of taking their first dose.

Can you describe the best candidates for NR supplementation?

NR is not intended to treat any disease or condition. NR is for adults, and given a reduction of NAD+ with age, will likely benefit those age 40 and above more than younger people. NR is not a substitute for a bad diet or poor sleep and hygiene, but it helps to optimize health and smooth out some of the stressors in life.

Is there anyone who shouldnt consider taking NR?

NR is not contraindicated for any conditions. However, we recommend that you talk to your about NR if you have a disease or any concerns at all.

Does NR have common side effects?

Based on clinical studies, there are no known side effects of NR. This is very different from another, commonly known form of vitamin B3 called niacin, which notoriously causes the uncomfortable side effect called flushing (reddening of the skin, often accompanied by a burning or itching sensation).

What kind of studies have been done with NR to prove its efficacy?

In people, weve shown that NR safely boosts NAD+ levels in a dose-dependent manner. Many more human studies are in process with some nearing publication.

Without getting too technical, how does NR impact longevity?

Well start by taking a deep breath and assure you we will not make human longevity claims. We have no plans specifically to test NR as a life extension supplement in people, but rather, a health extension supplement. Its reasonable to consider that by boosting NAD+, NR can help people age better, increasing many functional metrics of living that are collectively termed healthspan.

What is the number one reason someone would consider supplementing with TRU NIAGEN?

It is nutritional support for healthy aging. Of course, you should also eat right, and stay physically and mentally active.

Learn more about TRU NIAGEN today.

ChromaDex, the worldwide patent-holder of NIAGEN (nicotinamide riboside), previously only sold NR to third-party brands, but recently made NR available directly to consumers under the brand name TRU NIAGEN. With TRU NIAGEN from ChromaDex, you can be sure that you are getting patented, extensively researched and rigorously tested NIAGEN straight from the company that pioneered it. Every bottle of TRU NIAGEN has to meet the highest standards for safety, potency, and purity.

NOTE: These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure, or prevent any disease.

Photos/StockSnap.io/Author

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Want to Age Better? Look to Your Cells – The Good Men Project (blog)

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Biologists beat back death in fruit flies. Humans next? – New Atlas

Researchers at the University of California, Los Angeles (UCLA) have figured out a way to extend the life of female fruit flies by 20 percent by manipulating what the school has called a “cellular time machine.” The biologists who carried out the work are hopeful that their findings will have implications for human aging and help fight off age-related diseases like Alzheimer’s and Parkinson’s.

The researchers focused on mitochondria, tiny structures that act a bit like digestive organs inside our cells. These “cellular power plants” take the chemicals and oxygen in our systems provided through food and respiration, and convert them into a molecule known as ATP, which the cell can then use as food. When mitochondria age however, they can become damaged and build up in the body, creating a toxic environment conducive to disease formation.

In the research, UCLA biologists studied the mitochondria in fruit flies and figured out that as the insects reach middle age which, for a fruit fly, is about one month old their mitochondria change shape, making it tough for their cells to clear them out when the organelles are no longer functioning properly.

“We think the fact that the mitochondria become larger and elongated impairs the cell’s ability to clear the damaged mitochondria,” said David Walker, a UCLA professor of integrative biology and physiology, and the study’s senior author. “And our research suggests dysfunctional mitochondria accumulate with age, rather than being discarded.”

So the scientists gave the flies a hand by increasing a protein called Drp1 for one week when they reached 30 days of age. The result was that the damaged mitochondria was broken up into smaller pieces that the flies were able to expel from their cells. This not only led female flies to live about 20 percent longer and male flies to live about 12 percent longer than their typical two-month lifespans, but the researchers also found that the flies had increased energy levels and endurance.

What’s more, the boost in Drp1 also held off a condition in which the flies get leaky intestines about a week before they die. The condition is not only a precursor to death in fruit flies but it has also been implicated in the death of monkeys, worms and mice.

“It’s like we took middle-aged muscle tissue and rejuvenated it to youthful muscle,” said Walker. “We actually delayed age-related health decline. And seven days of intervention was sufficient to prolong their lives and enhance their health.”

The biologists also further experimented with a protein called Mfn, which keeps mitochondria from clumping together and getting too big for cells to deal with. When they turned its production off in the flies, they saw similar benefits in terms of health and life extension.

“You can either break up the mitochondria with Drp1 or prevent them from fusing by inactivating Mfn,” said Anil Rana, a UCLA project scientist and the study’s lead author. “Both have the same effect: making the mitochondria smaller and extending lifespan.”

The team hopes that it may eventually be possible to create a drug that would work in the same way as the proteins to not only extend and improve the lives of humans, but to help stave off age-related diseases. Walker points to the fact that the treatment worked so fast as a major plus, considering that it could lessen the negative effects often associated with the long-term use of pharmaceuticals.

The findings have been reported in the journal Nature Communications.

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Biologists beat back death in fruit flies. Humans next? – New Atlas

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Genetic Panel Test May Help ID Optimal Opioid Dose Needs – Monthly Prescribing Reference (registration)

September 06, 2017

Some pain patients may require higher doses for pain control due to genetic variations found in their pain receptors

According to results of a study presented at PAINWeek 2017, a high percentage of severe chronic pain patients had genetic variations in dopamine receptors and a low variation in opioid receptors, possibly explaining why some patients may require increased doses of opioids for pain control.

The study performed genetic testing on 70 patients with severe chronic pain that were unresponsive to standard medical therapy and required >100mg/day of morphine equivalence for pain control. Buccal swab was used to obtain test samples and 16 single nucleotide polymorphisms (SNP) were analyzed. The 4 categories of genetic markers included in the panel were receptor binding and activity (including dopamine, opioid, serotonin, and galanin receptors), neurotransmitter transporters, central nervous system (CNS) enzymes, and cytochrome P450 enzymes.

Results of the study found that genetic variations in the 3 dopamine receptors tested (DRD1, DRD4, DOR) were observed in 97 to 100% of patients included in the analysis. The study authors also reported that only 17 to 30% of patients were found to have genetic variations in the opioid receptors tested (OPRK1, OPRM1, and MUOR). Additionally, it was found that only the dopamine receptor makers had >90% genetic variation, suggesting that potent stimulation of the opioid receptors was required to obtain pain relief for these patients.

These results suggest that since the dopaminergic pathway was defective, these pain patients relied on potent stimulation of their opioid receptors to obtain adequate pain relief, the study authors add.

Based on the results of this study, some severe chronic pain patients may require higher doses of opioids for pain control due to genetic variations found in pain receptors. The study authors add, These findings need to be investigated in other groups of pain patients who require high dose opioids to determine if dopaminergic defects are an underlying, genetic cause of high dose opioid requirements in some chronic pain patients.

Read more ofMPR’s coverage of PAINWeek 2017 by visiting theconference page.

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Genetic Panel Test May Help ID Optimal Opioid Dose Needs – Monthly Prescribing Reference (registration)

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Pregnancy and the issue of genetic tests – 06-Sep-2017 – NZ … – NZCity

Increasingly sophisticated genetic testing available to would-be parents is likely to raise thorny ethical issues, according to a New Zealand Law Foundation report.

Lead author and Otago University bioethicist Dr Jeanne Snelling, says pregnant women now face a bewildering world of genetic testing.

She says expanded screening and testing is likely to affect not only reproductive outcomes, but also women’s experiences of conception and pregnancy in the future.

“Genetic testing in the reproductive context is a particularly high-stakes endeavour,” she said.

“It directly affects a woman’s experience of pregnancy, and may contribute to a decision not to transfer an embryo or to terminate an established pregnancy.”

The report looks at a number of rapidly-evolving genetic technologies.

They include prenatal genetic testing as early as 10 weeks into a pregnancy and preimplantation genetic testing of IVF embryos.

Dr Snelling said a common feature of all the tests was that they enabled an increasing amount of information to be gleaned, compared with traditional prenatal tests.

“All are associated with particular technical, ethical and legal challenges,” she said.

The report examines the implications of new technology for women.

It considers the potential for expanded screening and testing programmes becoming more routine, and the implications for informed consent.

It also looks at concerns over the effects of extended reproductive genetic testing on people with disabilities.

Dr Snelling says there is a “common assumption” that more information is always better.

“That is not always borne out in the empirical studies of women’s experiences,” she said.

“One recurring theme is the pressing need to ensure women and their partners have a genuine choice to accept or decline expanded screening or testing.”

NZN

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Pregnancy and the issue of genetic tests – 06-Sep-2017 – NZ … – NZCity

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Global Updated Gene Therapy Technologies, Markets and Companies Report 2017-2026 – Research and Markets – Business Wire (press release)

DUBLIN–(BUSINESS WIRE)–The “Gene Therapy – Technologies, Markets and Companies” report from Jain PharmaBiotech has been added to Research and Markets’ offering.

The markets for gene therapy are difficult to estimate as there is only one approved gene therapy product and it is marketed in China since 2004. Gene therapy markets are estimated for the years 2016-2026.

The estimates are based on epidemiology of diseases to be treated with gene therapy, the portion of those who will be eligible for these treatments, competing technologies and the technical developments anticipated in the next decades. In spite of some setbacks, the future for gene therapy is bright.The markets for DNA vaccines are calculated separately as only genetically modified vaccines and those using viral vectors are included in the gene therapy markets

The voluminous literature on gene therapy was reviewed and selected 750 references are appended in the bibliography.The references are constantly updated. The text is supplemented with 76 tables and 22 figures.

Profiles of 189 companies involved in developing gene therapy are presented along with 240 collaborations. There were only 44 companies involved in this area in 1995. In spite of some failures and mergers, the number of companies has increased more than 4-fold within a decade.

These companies have been followed up since they were the topic of a book on gene therapy companies by the author of this report. John Wiley & Sons published the book in 2000 and from 2001 to 2003, updated versions of these companies (approximately 160 at mid-2003) were available on Wiley’s web site. Since that free service was discontinued and the rights reverted to the author, this report remains the only authorized continuously updated version on gene therapy companies.

Key Topics Covered:

Part I: Technologies & Markets

Executive Summary

1. Introduction

2. Gene Therapy Technologies

3. Clinical Applications of Gene Therapy

4. Gene Therapy of Genetic Disorders

5. Gene Therapy of Cancer

6. Gene Therapy of Neurological Disorders

7. Gene Therapy of Cardiovascular Disorders

8. Gene therapy of viral infections

9. Research, Development and Future of Gene Therapy

10. Regulatory, Safety, Ethical Patent Issues of Gene Therapy

11. Markets for Gene Therapy

12. References

Part II: Companies

13. Companies involved in Gene Therapy

For more information about this report visit https://www.researchandmarkets.com/research/q99xbz/gene_therapy

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Global Updated Gene Therapy Technologies, Markets and Companies Report 2017-2026 – Research and Markets – Business Wire (press release)

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Families raise money for research into rare diseases – KARE

University of Minnesota groundbreaking gene therapy research

Lindsey Seavert, KARE 6:54 PM. CDT September 06, 2017

Andrea and RyanShaughnessy, from the Traverse City, Michigan area, have been at the University of Minnesota Masonic Childrens Hospital for nine months, as their son, Anderson, 2, underwent two blood stem cell transplants for Hurler Syndrome. (Photo: KARE 11)

MINNEAPOLIS – The FDA just recently approved the first gene therapy available in the United States for childhood leukemia, ushering in a new frontier in medicine to reprogram a patient’s own cells to attack a deadly cancer.

The breakthrough is also bringing a long-awaited promise at the University of Minnesota for children undergoing treatment for rare, life-threatening diseases.

An estimated 20 families whose children have undergone blood stem cell transplants for rare metabolic diseases, have joined together to launch a crowdfunding campaign to help U of M doctors research safer, more effective therapies, including new gene therapy that could bring life-saving impact for their children.

Andrea and Ryan Shaughnessy, from the Traverse City, Michigan area, have been at the University of Minnesota Masonic Childrens Hospital for nine months, as their son, Anderson, 2, underwent two blood stem cell transplants for Hurler Syndrome.

The rare genetic disease, affecting 1 in every 100,000 children, occurs when the body has a defective gene and as a result, cannot make an important enzyme. Children with Hurlers Syndrome have a life expectancy of 5 to 10 years old.

Time is not on our side, the more we can do earlier on, the better off it is for his long-term survival and development, said Andrea Shaughnessy. If we could help keep anybody else from living in our shoes because it is so hard, you know it might not be able to directly impact the help Anderson needs today, but it doesnt mean that we cant help others so they can have a better outcome and life expectancy tomorrow.

The Shaughnessy family made the second donation to the crowdfunding campaign, called the Pediatric BMT Metabolic Program Research Fund.

I think its really inspiring they are doing this, said Dr. Weston Miller, a U of M pediatric blood and marrow physician overseeing many blood stem cell transplants. Research is expensive and really driving novel therapies and improving on existing therapies takes time and money.

Dr. Miller noted the lack of research and development for rare diseases, and said the gene therapy reduces the health risks associated with undergoing and surviving blood stem cell transplants.

Really the unifying theme of all these novel therapies is going to be make it safer and more effective, said Dr. Miller. So, what we of course wish and hope for is we can find a way to have effective therapies and look Mom and Dad in the eye, and say there is closer to 100 percent they will be walking out of here.

The families from across the country and world have a goal to raise $1 million to fund research projects that might otherwise never make it to the laboratory.

We are pretty proud of this team and we know they can do it, its amazing the tenacity they bring, said Andrea Shaughnessy.

The crowdfunding page details their plea for support.

They have helped countless families from all around the world navigate the uncertainty of a life-threatening diagnosis and make heart-wrenching decisions. They go above and beyond, whether it is Google translating an email to correspond with parents in other countries or wearing a Minions shirt. They have revolutionized the way the diseases are treated, drastically improved the quality of life for many of their patients, and given families hope.

2017 KARE-TV

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Families raise money for research into rare diseases – KARE

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Opinion: How investors should play gene-therapy stocks – MarketWatch

For a few thousand people around the world, reaching the age of 20 is a landmark to dread, not to celebrate.

Coping since birth with Leber Congenital Amaurosis (LCA), anyone with this genetic eye disorder who hasnt already lost their sight can expect to be legally blind before they reach 21 years of age.

Characterized by deep-set eyes that are prone to involuntarily, jerky movements, LCA is caused by a fault in one or more of about 14 genes so far identified. There is no proven treatment, although that may soon change.

In late August, biotech company Spark Therapeutics Inc. ONCE, +1.70% was granted a priority review of a treatment for LCA that may make it the first gene therapy approved for use in the U.S. by the Food and Drug Administration (FDA).

Read: Novartis CAR-T therapy was the first to be approved in the U.S.

The Philadelphia-based company will by Jan. 12 discover whether the FDA will issue a biologics license for Luxturna, which can replace the faulty RPE65 gene that causes LCA with a properly functioning copy. Should it be approved, victims of this disease will soon be able to receive a single injection that may permanently restore functional eyesight.

Gene therapys payoffs

While traditional research is usually focused on unlocking a way to treat one condition, gene therapies such as Luxturna may be game changers because they are based on platforms that can be adapted and used to tackle multiple inherited disorders.

Using similar techniques, Spark is also working on a functional cure for hemophilia, a disease that afflicts about 20,000 people in the U.S. and around 400,000 globally for which the market is worth about $8.5 billion in the U.S. and European Union.

In-human trials of SPK-8011 recently showed that Sparks therapy has the potential to lift the Factor VIII protein necessary for normal blood clotting to functional and sustained levels. In short, as with the Luxturna, the therapy has the potential to offer a one-shot cure.

That would be seismic for hemophiliacs, whose main option today is regular infusions of Factor VIII protein. Unfortunately, within a few days almost none of the protein remains in the body and the hemophiliacs blood is again unable to clot normally. Spark is also developing a treatment for hemophilia B, a much smaller market.

A new dawn

Biotech companies have reached this point because research has advanced to the stage where weve figured out how to identify the genetic causes of disease and how to apply that knowledge to develop therapies that will replace defective genes to provide a lasting cure.

Voyager Therapeutics Inc. VYGR, +24.70% is focused on gene therapies for neurological disorders such as Parkinsons, Huntingtons, Lou Gehrigs disease or ALS, Friedreichs ataxia (which damages the nervous system), Alzheimers and chronic pain.

In addition to cancer immunotherapy and the more controversial gene editing, bluebird bio Inc. BLUE, +0.84% has eight gene therapy programs, including research into adrenoleukodystrophy, or ALD, a deadly brain disorder that mostly affects boys and men; beta thalassemia; and sickle cell, none of which have a cure.

Should Spark, or another company such as BioMarin Pharmaceutical Inc. BMRN, -0.72% or Sangamo Therapeutics Inc. SGMO, -4.43% which are also working on hemophilia, succeed with its gene therapy, it could adversely impact suppliers of traditional Factor VIII protein infusions, such as Shire PLC SHP, +0.89% which had revenue from hemophilia treatments of $870.9 million in the first quarter of 2017.

Cost problems

Cost has been a headwind for the two gene therapies so far approved. In April, Fierce Pharma reported that uniQure NV QURE, +4.42% would not ask the European Medicines Agency to renew its marketing authorization for Glybera, the worlds most expensive drug at $1 million, when it expires in October, because in the four years after it gained approval in 2012 it was used commercially and paid for once, according to the MIT Technology Review.

Europes other approved gene therapy has fared no better. GlaxoSmithKline Plc GSK, +0.28% said in July it is seeking a buyer for Strimvelis, a treatment for a rare inherited immune deficiency, which took a year after approval to gain its first patient.

Perhaps the solution is a new payments system for ultra-expensive and long-lasting gene therapies, based on annuities for each additional time period of a treatments effectiveness.

But how do you measure cost? In December, Biogen Inc. BIIB, +0.48% gained FDA approval for Spinraza, a treatment for spinal muscular atrophy, the leading genetic cause of infant death in the U.S. Spinraza is priced at $375,000 a year for life (after $750,000 in the first year of therapy), while a one-shot gene therapy being developed by AveXis Inc. AVXS, +1.89% for SMA may provide a cure to someone who could go on to live 80 or more years. What sort of a premium for AveXis approach is justified?

Pricing is not dissuading biotech companies. There are about 7,000 genetic diseases, and the whole pharmaceutical and biotech industry is now working to solve each of those problems.

Investors seeking to benefit from a potential medical moonshot should consider allocating capital on a long-term basis to well-managed gene therapy companies with transformative assets that give them a competitive advantage.

Ethan Lovell is co-portfolio manager of the Janus Henderson Investors Global Life Sciences strategy.

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Opinion: How investors should play gene-therapy stocks – MarketWatch

Recommendation and review posted by Bethany Smith

Has the Era of Gene Therapy Finally Arrived? – Scientific American (blog)

In 1990, geneticist William French Anderson injectedcells with altered genes into a four-year-old girl with severe immunodeficiency disorder. This was the first sanctioned test of gene therapy, in which genetic material is used to treat or prevent disease.

If were lucky, Anderson told The Chicago Tribune, with this little girl weve opened the door for genetic engineering to attack major killers and cripplers, particularly AIDS, cancer and heart disease.

Gene therapy has never fulfilled these grand hopes. In the decades since Andersons experiment, thousands of clinical trials of gene therapies have been carried out. But the first gene therapy was only approved for sale in the U.S. this week. The Food and Drug Administration announced its approval of Kymriah, a gene therapy produced by Novartis for a form of childhood leukemia. A few gene therapies have previously become available in China and Europe.

An FDA press release emphasizes the historic nature of the approval. Were entering a new frontier in medical innovation with the ability to reprogram a patients own cells to attack a deadly cancer, FDA Commissioner Scott Gottlieb says.

As I have noted in previousposts (see Further Reading), the hype provoked by genetic research has always outrun the reality. Gene-therapy proponents have long predicted that it will eliminate diseases such as cystic fibrosis and early-onset breast cancer, which are traceable to a defective gene, as well as disorders with more complex genetic causes.Enthusiasts also envisioned genetically engineered “designer babies” who would grow up to be smarter than Nobel laureates and more athletic than Olympians.

Gene therapy turned out to be extremely difficult, because it can trigger unpredictable, fatal responses from the body’s immune system.The National Institutes of Health warnsthat gene therapy can have very serious health risks, such as toxicity, inflammation, and cancer.

Kymriah is a case in point. The FDA press release warns that Kymriah can cause life-threatening immune reactions and neurological events, as well as serious infections, low blood pressure (hypotension), acute kidney injury, fever, and decreased oxygen (hypoxia). According to The New York Times, the FDA is requiring that hospitals and doctors be specially trained and certified to administer [Kymriah], and that they stock a certain drug needed to quell severe reactions.

Kymriah illustrates another problem with gene therapy: high cost. Novartis is charging $475,000 for Kymriah. As a recent Reuters article notes, over the past five years two gene therapies have been approved for sale in Europe, one for a rare blood disease and the other for the bubble-boy immunodeficiency disorder. The therapies cost $1 million and $700,000, respectively. So far, the companies that make the therapies have achieved a total of three sales.

As journalist Horace Freeland Judson points out in this excellent 2006 overview, The Glimmering Promise of Gene Therapy, biology and economics have conspired against gene therapy. Judsonnotes that most individual diseases caused by single-gene defectsthe kind that seem most likely to be cured by gene therapyare rare. (Sickle-cell anemia and some other hemoglobin disorders are among the few exceptions.)

Judson adds that because different diseases have different genetic mechanisms and affect different types of tissue, each presents a new set of research problems to be solved almost from scratch. As the millions burned away, it became clear that even with success, the cost per patient cured would continue to be enormous. And success had shown itself to be always glimmering and shifting just beyond reach.

The advent of CRISPR, a powerful gene-editing technique, has inspired hopes that gene therapy might finally fulfillexpectations. Researchers recently employed CRISPRin human embryos to counteract a mutation that causes heart disease. Potentially, The New York Times reported last month, the method could apply to any of more than 10,000 conditions caused by specific inherited mutations.

CRISPR has also renewed concerns about the ethics of engineering people with enhanced physical and mental traits. These concerns are grossly premature. As Science noted recently, CRISPR poses some of the same risks as other gene therapies. The methodstill has a long way to go before it can be used safely and effectively to repairnot just disruptgenes in people.And in fact questions have now been raised about the CRISPR research on embryos mentioned above.

Some day, applied genetics might live up to its hype, but that day is far from arriving.

Further Reading:

Could Olympians Be Tweaking Their Genes?

Have researchers really discovered any genes for behavior?

My Problem with Taboo Behavioral Genetics? The Research Stinks!

Hype of Feel-Good Gene Makes Me Feel Bad.

New York TimesHypes “Infidelity Gene.”

Quest for Intelligence Genes Churns out More Dubious Results.

Warrior Gene Makes Me Mad.

Should Research on Race and IQ Be Banned?

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Has the Era of Gene Therapy Finally Arrived? – Scientific American (blog)

Recommendation and review posted by sam

Upcoming Duchenne Gene Therapy Trial to Be Focus of PPMD-hosted Webinar on Wednesday, Sept. 6 – Muscular Dystrophy News

Parent Project Muscular Dystrophy (PPMD) will host a one-hourwebinarat 2 p.m. Eastern Time on Wednesday, Sept. 6, that will focus on an upcoming clinical trial exploring gene therapy for Duchenne muscular dystrophy.

The webinar will be led by Dr. Jerry Mendell, who, together with fellow researcher Dr. Louise Rodino-Klapac, received a $2.2 million grant from PPMD in January 2017 for their gene therapy research project at the Nationwide Childrens Hospital in Columbus, Ohio.

The project is now approaching its first human trial, expected to begin in the next few months. Mendell will talk about how the trial is designed, including inclusion and exclusion criteria for participation. He will also share planned timelines.

Those wishing to participate are asked to register and submit questions in advance. Follow this link for more information about registering and submitting questions.

The grant was the first in the nonprofits Gene Transfer Initiative, which intends to support research into gene-therapy-based solutions. The webinar is part of a series that intends to present researchers and companies that focus on gene therapy for Duchenne.

Such therapies include gene transfer techniques, in which a small but functional version of the dystrophin gene, referred to as micro-dystrophin, is delivered with the help of a non-infectious virus. Other approaches use gene editing with the help of the CRISPR-Cas9 system (a naturally occurring bacterial defense system that has been adapted into a gene-editing tool).

The Nationwide Childrens Hospital trial will focus on the delivery of micro-dystrophin.

But while the webinar series will present research projects in various stages of progress, it spent the first parton Aug. 15 discussing what these approaches really mean, allowing patients and families to better understandthe complex science behind the therapeutic approaches. By understanding the science, PPMD hopes that families can make better choices once these therapies reach clinical trials.

PPMD also felt prompted to bring gene therapies to Duchenne patients with the recent FDA approval of Kymriah, the first gene therapy to be approved in the U.S.

While Kymriah is a cancer immunotherapy using a different approach than that likely to be used in Duchenne, the approval constitutes another piece of evidence showing the tremendous strides this technology has made since the 1990s and its early days of research, PPMDs Abby Bronson wrote in a blog post.

[The Kymriah] approval means that there are regulatory and commercial pathways for cell and gene based therapy. It means that you can put living DNA into a human and it can do its job, Bronson wrote in her blog. And it means that years of scientists making seemingly incremental advances can all come together and result into a giant step forward. A step forward that we believe will move this technology in a direction that will eventually benefit our community, our children.

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Upcoming Duchenne Gene Therapy Trial to Be Focus of PPMD-hosted Webinar on Wednesday, Sept. 6 – Muscular Dystrophy News

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Renova Therapeutics co-founder awarded highest research honor … – PR Newswire (press release)

SAN DIEGO, Sept. 6, 2017 /PRNewswire/ — Renova Therapeutics, a biotechnology company developing gene and peptide-based treatments for cardiovascular and metabolic diseases, today announced that the company’s co-founder Dr. H. Kirk Hammond is the recipient of the 2017 William S. Middleton Award, the highest biomedical laboratory research award in the U.S. Department of Veterans Affairs (VA).

The Middleton Award is given annually to recognize outstanding achievements in biomedical research. Dr. Hammond, a Professor of Medicine at UC San Diego and a cardiologist with the VA San Diego Healthcare System, received the award for his contributions to the understanding of mechanisms of cardiovascular disease and novel gene transfer treatments for angina and heart failure. Dr. Hammond is also investigating gene transfer for type 2 diabetes.

Dr. Hammond has authored more than 100 peer-reviewed publications related to cardiovascular disease and is an inventor on nine patents. He devised and led the Phase 2 clinical trial of AC6 gene transfer for the treatment of patients with heart failure and reduced ejection fraction. Results of the trial indicated that, through a one-time administration, AC6 gene transfer safely increased heart function beyond optimal heart failure therapy (JAMA Cardiology). This study was funded by the National Institutes of Health (NIH), the Gene Therapy Resource Program and Renova Therapeutics, via an NIH public-private partnership.

“If successful, these trials could lead to the first registration of a gene therapy product for treating heart disease,” said Dr. Rachel Ramoni, VA’s Chief Research and Development Officer. “Dr. Hammond is clearly a pioneer of intracoronary gene therapy and novel patient delivery mechanisms that will have a broad impact on the health care of veterans.”

AC6 gene transfer is being developed by Renova Therapeutics as RT-100, its lead gene therapy candidate advancing to a Phase 3 clinical trial known as FLOURISH.

About heart failureHeart failure is a chronic disease characterized by the inability of the heart to pump sufficient blood to meet the body’s demands. It is a progressive and fatal chronic condition, and symptoms worsen over time. Heart failure afflicts more than 28 million people globally and is the only cardiovascular disease that is increasing in prevalence. In the United States, it is the most common cause for emergency hospital admissions in patients 65 and older.

About Renova Therapeutics Renova Therapeutics is developing definitive, one-time gene therapies and peptide infusion treatments to restore the health of people suffering from chronic diseases. The first indications the company is pursuing are gene therapy treatments for heart failure and type 2 diabetes, two of the most common and devastating chronic diseases in the world. The company’s lead product, RT-100, is a treatment that delivers a therapeutic gene directly to the heart during a routine outpatient procedure and has the potential to increase heart function in millions of patients with heart failure. The company’s product pipeline also includes a groundbreaking gene therapy in preclinical stage for sufferers of type 2 diabetes, as well as a peptide infusion therapy for the treatment of acute decompensated heart failure. Renova Therapeutics was founded in 2009 and is led by an experienced management team in biopharmaceuticals and gene therapy. For additional information about the company, please visit http://www.renovatherapeutics.com.

References

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Lasker Awards honor Planned Parenthood and research on preventing and fighting cancer – Los Angeles Times

Planned Parenthood, the embattled nonprofit health provider that specializes in reproductive health, has won the 2017 Lasker Award for public service.

The Albert and Mary Lasker Foundation also honored Dr. Douglas Lowy and John Schiller of the National Cancer Institute with its clinical research award for work that led to the development of a vaccine against human papillomavirus, which causes cervical cancer. Molecular biologist Michael N. Hall received the foundations basic medical research award for laying the scientific groundwork for advances in the treatment of cancer, diabetes, neurodegenerative disorders and diseases of aging.

The Lasker Awards, announced Wednesday, are given annually to recognize advancements in the prevention and treatment of disease. Each award carries an honorarium of $250,000. Dozens of past winners have gone on to win the Nobel Prize.

The Lasker-Bloomberg Public Service Award to Planned Parenthood comes at a time when the international organizations global mission has come under budgetary assault on Capitol Hill. The healthcare provider offers cancer screenings, testing for sexually transmitted diseases, birth control services and general care to millions of people each year. But the organization also provides abortion services, which makes it a frequent target of some lawmakers and others with antiabortion views.

Approximately one in five women in the U.S. have received its assistance at some point during their lives, the Lasker Foundation said in its award citation. Without Planned Parenthood, many individuals would not have access to high-quality and affordable health care.

Lowy and Schillers research on infection-fighting antibodies led to the development of a vaccine against human papillomavirus. The virus, also known as HPV, causes the worlds second-most common cause of malignancy in women, cervical cancer. In 2014, that work led President Obama to award Lowy and Schiller the National Medal of Technology and Innovation.

All of this years honorees acknowledged the changed political environment in which they conduct their activities. All warned that their work and other work like it would be squelched if the Trump administrations proposed restrictions on womens healthcare and cuts to basic biomedical research funding are adopted by Congress.

Planned Parenthood President Cecile Richards noted that her organizations founders, Dr. Margaret Sanger and Dr. Bessie Moses, were the first women to be awarded the Lasker prize for medicine for their contributions to contraception at a time when it was illegal in the United States. She marveled that more than 65 years later, the U.S. government has reprised its hostility to the policies that the work of Sanger and Moses made possible.

Were at a moment in the U.S. where there are major political efforts to get a rollback of reproductive care and reproductive rights, Richards said.

The scientists honored by the Lasker Awards offered more indirect criticism. They suggested that amid deep budget cuts in federal funding for biomedical research, scientists will not have the latitude to pursue research on subjects whose significance in not yet understood.

Basic science is the engine that drives important breakthroughs in public health, said Schiller, whose work led to the development of the first vaccine to prevent a cancer.

Its not clear which basic discoveries are going to lead to public health breakthroughs, he added. Its an example where we cant be too top-down in our research enterprise. You cant dictate which discoveries will be made.

Evan Vucci / Associated Press

National Cancer Institute researchers Douglas Lowy, left, and John Schiller, shown here with President Obama, have been awarded the Lasker Award for clinical research.

National Cancer Institute researchers Douglas Lowy, left, and John Schiller, shown here with President Obama, have been awarded the Lasker Award for clinical research. (Evan Vucci / Associated Press)

That was certainly the case for Hall, an American and Swiss scientist based at the University of Basel in Switzerland whose work has been translated into therapies for a variety of diseases.

He won his Lasker Award for his discovery of a protein called TOR (short for target of rapamycin) that tells cells when to grow, divide and survive. The gene that expresses TOR is found in organisms ranging in complexity from yeast to humans, and it often mutates in cancer cells. In mammals, who have a version called mTOR, its also a key player in activation of the immune system.

Halls elucidation of how TOR works has led to the use of a class of targeted cancer drugs called mTOR inhibitors, including rapamycin and mimics such as the drug everolimus (marketed as Afinitor), in the treatment of certain aggressive cancers of the kidney, breast or brain.

Faulty signaling in the mTOR network is implicated not only in cancer, but in a range of other diseases linked to aging, such as diabetes and brain diseases. That has led many to believe that understanding how TOR works will lead to insights that could extend the human lifespan.

Among the insights already gleaned: that in mice, at least, calorie restriction lengthens lifespan by inhibiting the activity of mTOR.

The basic research honored by this years Lasker Award was part of an international race among scientists to unravel a mystery: why (and how) did the drug rapamycin, an antifungal medication that emerged from soil harvested on Easter Island, also have the ability to suppress the proliferation of both cancer cells and immune cells in mammals?

Hall and his colleagues identified and sequenced the TOR1 and TOR2 genes in yeast, and published the result in the journal Cell in 1993.

melissa.healy@latimes.com

@LATMelissaHealy

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Lasker Awards honor Planned Parenthood and research on preventing and fighting cancer – Los Angeles Times

Recommendation and review posted by Bethany Smith

Scientists use CRISPR technology to change flower colour – Phys.org – Phys.Org

Morning Glory. Credit: University of Tsukuba

In a world-first, Japanese scientists have used the revolutionary CRISPR, or CRISPR/Cas9, genome- editing tool to change flower colour in an ornamental plant. Researchers from the University of Tsukuba, the National Agriculture and Food Research Organization (NARO) and Yokohama City University, Japan, altered the flower colour of the traditional Japanese garden plant, Japanese morning glory (Ipomoea nil or Pharbitis nil), from violet to white, by disrupting a single gene. This research highlights the huge potential of the CRISPR/Cas9 system to the study and manipulation of genes in horticultural plants.

Japanese morning glory, or Asagao, was chosen for this study as it is one of two traditional horticultural model plants in the National BioResource Project in Japan (NBRP). Extensive genetic studies of this plant have already been performed, its genome sequenced and DNA transfer methods established. In addition, as public concern with genetic technologies such as CRISPR/Cas9 is currently a social issue in Japan, studies using this popular and widely-grown plant may help to educate the public on this topic.

The research team targeted a single gene, dihydroflavonol-4-reductase-B (DFR-B), encoding an anthocyanin biosynthesis enzyme, that is responsible for the colour of the plant’s stems, leaves and flowers. Two other, very closely related genes (DFR-A and DRF-C) sit side-by-side, next to DFR-B. Therefore, the challenge was to specifically and accurately target the DFR-B gene without altering the other genes. The CRISPR/Cas9 system was used as it is currently the most precise method of gene editing.

The CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats)/Cas9 system is based on a bacterial defense mechanism. It is composed of two molecules that alter the DNA sequence. Cas9, an enzyme, cuts the two strands of DNA in a precise location so that DNA can be added or removed. Cas9 is guided to the correct location by gRNA, or guide RNA, a small piece of RNA that has been designed to be complementary to the target DNA sequence. Cas9 cuts the two strands of DNA at the target location, allowing DNA to be removed and/or added.

As reported on 30 August 2017 in Scientific Reports, a short DNA sequence in the Japanese morning glory DFR-B gene was selected as the target for the CRISPR/Cas9 system. This sequence contains the active site of the enzyme produced by the DFR-B gene. Disruption of this sequence should therefore de-activate the enzyme, resulting in an absence of the colour pigment, anthocyanin. The CRISPR/Cas9 system was inserted into tissue-cultured embryos of Japanese morning glory plants using the DNA-transferring capabilities of the plant bacterium Rhizobium. As expected, the DFR-B enzyme was successfully inactivated, resulting in approximately 75%of the transgenic plants with green stems and white flowers. Non-transformed plants with an active enzyme had violet stems and flowers. These changes in stem colour were observed very early in the tissue culture process. A series of genetic analyses confirmed that the DNA target sequence had been altered in the transgenic plants, with either DNA insertions or deletions in both copies of the DFR-B gene (so-called bi-allellic mutants). The other related genes, DFR-A and DFR-C, were examined and no mutations were found, confirming the high specificity of the CRISPR/Cas9 system.

Next, the researchers examined the inheritance of the CRISPR/Cas9-induced mutations by analyzing plants from the next generation. These plants looked exactly like their parents. Among these plants were some without any sign of the introduced DNA. This raises some interesting questions in terms

of the regulation of genetically modified organisms (GMOs), as these next-generation plants are considered transgenic, based on process-based definitions (how they were made), and non- transgenic, based on product-based definitions (the presence of foreign DNA in the final product).

This technology is also extremely useful in confirming the function of genes. Experiments in the 1930s and 1990s used ‘forward’ genetic screening techniques to find the genes responsible for flower colour production in the Japanese morning glory. The CRISPR/Cas9 system described here is the ‘reverse’ genetic approach, used to find out what an organism looks like after a known gene is disrupted, and confirms that the DFR-B gene is the main gene responsible for colour in Japanese morning glory plants.

Currently, CRISPR/Cas9 technology is not 100% efficient, that is, not all targeted plants will be transgenic. The mutation rate in this study, 75%, however, was relatively high. This is one of the reasons this research will greatly facilitate those interested in the modification of flower colours and shapes using the CRISPR/Cas9 system in ornamental flowers or vegetables.

The story of the Japanese morning glory started in the 8th century AD, with the introduction of wild blue-flowered plants into Japan from China. In 1631, the first white-flowered Japanese morning glory was painted in Japan. What took nature nearly 850years to achieve has taken less than one using the CRISPR/Cas9 system, indicating both its power and its potential.

Explore further: Modifying fat content in soybean oil with the molecular scissors Cpf1

More information: Kenta Watanabe et al. CRISPR/Cas9-mediated mutagenesis of the dihydroflavonol-4-reductase-B (DFR-B) locus in the Japanese morning glory Ipomoea (Pharbitis) nil, Scientific Reports (2017). DOI: 10.1038/s41598-017-10715-1

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Scientists use CRISPR technology to change flower colour – Phys.org – Phys.Org

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Eterna Citizen Science Game Turns Its Attention To CRISPR – HuffPost

I’ve written a number of times about the tremendous rise in citizen science game platforms that allow players to contribute to scientific research. Arguably the most well known of these games is Stanford based Eterna.

Last year a paperhighlighted how players of the game were playing an ever increasing role in scientific research.

We see that in particular researchers in the natural sciences have collected and classified data with the help of interested volunteers. In the social sciences, there has been a focus on inviting select parts of the public to find out the effects of science on peoples everyday lives. This may for example concern environment problems and risks,the authors say.

The game began life by asking players to help scientists understand RNA, but it has recently branched out into new fields. For instance, last year they developed a version that aimed to further understanding of TB.

The latest version sees players tasked with designing a CRISPR-controlling molecule. The design of the challenge is to develop an RNA molecule that’s capable of acting as an on/off switch for CRISPR. The resulting molecules will then be tested by molecular biologists.

The ability to turn off CRISPR is crucial as the editor is incredibly powerful and may have unexpected effects on the cells, so being able to turn it off is key to its safe usage. The researchers also believe the functionality could allow CRISPR to be deployed on a kind of timer so that it can be activated and deactivated according to a schedule.

“Great ideas can come from anywhere, so this is also an experiment in the democratization of science,” the team say. “A lot of people have hidden talents that they don’t even know about. This could be their calling. Maybe there’s somebody out there who is a security guard and a fantastic RNA biochemist, and they don’t even know it.”

The aim is to get up to 100,000 players to contribute, with each player contributing around 10 solutions each. Should that number of players participate, it gives the team a good amount of data to work with, and their initial tests will then go into refining the game further to guide future players in their designs.

In addition to producing some invaluable inputs into scientific research, the team also hope to enhance interest in science among the wider population.

“The Eterna game is a powerful way to engage lots and lots of people,” they say. “They’re not just passive users of information but actually involved in the process.”

As with other computer games, Eterna aims to incentivize players by allowing them to earn points, build expertise and advance to higher levels. The best players then gain the chance to have their designs implemented in a lab environment.

Citizen science games like Eterna have proven incredibly popular. For instance, I wrote recently about the Sea Hero Quest game developed by Deutsche Telekom to promote research into dementia. The original mobile game has been downloaded over 3 million times, providing data equivalent to 12,000 years of lab research.

As such, the Eterna team believe that the game is as much about the sociology of science as it is about the hard science itself.

“There is a misconception of science as something that happens in an ivory tower by someone in a white coat with a long beard. And they are saying things and drawing things that nobody understands. But it’s not like that! It’s really like a puzzle that anybody can get engaged with,” they say.

You can play the game for free by clicking here, or alternatively watch the video below to learn more about it.

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Eterna Citizen Science Game Turns Its Attention To CRISPR – HuffPost

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