StemCell Therapy

By: Lifestyle Desk | New Delhi | Updated: June 27, 2020 12:09:31 pm Heres everything to know about the blood disorder. (Source: Getty Images/Thinkstock)

Sickle cell disease (SCD) is an inherited group of blood disorder which is genetic in nature. It is usually transferred from parents to the child during birth i.e. both the parents can be carries of SCD. Healthy RBCs are round in shape, which moves through small blood vessels and carries oxygen to all parts of the body. In someone who has SCD, the RBC becomes sticky and hard and start to look like C- shaped similar to that of a farm tool sickle. The sickle cells die early, which causes a constant shortage of RBC, which leads to low oxygen carriers in the body, mentioned Dr Rahul Bhargava, director and head, haematology and bone marrow transplant, Fortis Memorial Research Institute, Gurugram. Also, when sickle cells travels they tend to get stuck in small blood vessels and restrict the blood flow. This can cause pain in the joints, chest and other serious problems such as stroke, acute chest syndrome and infections.

Anaemia

SCD can lead to shortage of RBC which makes the patient anaemic. It can lead to less oxygen supply in the body causing fatigue.

Episodes of pain. SCD patients suffer from episodes of periodic pain. Sickle-shaped blood cells can block the flow of blood which in tiny vessels of abdomen, chest and joints, thus leading to pain.

Feet and hands swelling

Sickle-shaped RBC can block then flow of blood which can cause swelling in the hands and feet.

Frequent infections

Sickle cells can damage the spleen and make the person vulnerable to diseases and infections. Vaccination is usually prescribed in childhood to keep infections at bay.

Delayed growth or puberty

RBC is the carrier of oxygen and other nutrients. With low RBC, there is no enough oxygen in the body which can slow the growth in infants and children which leads to delayed puberty in children.

Vision problems

Vision is affected when the flow of blood is affected.

SCD can lead to a lot of complication, including Stroke, acute chest syndrome, pulmonary hypertension, organ damage, blindness, leg ulcers and more such complications.

SCD can be diagnosed with a simple blood test. Parents are advised to get the screening done before conceiving as it is transmitted from parents. For newborns, the test is done in the hospitals as a routine screening. There is no single treatment for SCD patients and it varies from patient to patient on the basis the symptoms. Before starting any medication, consult a haematologist who specialises in blood disorders.

The only cure for SCD is getting a bone marrow transplant (BMT), which is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Stem cells are easily taken from the donor and planted in the recipient. After the BMT procedure, the patient can lead a healthy and normal life.

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Nick Cordero is still recovering from COVID-19 complications and wife Amanda Kloots is asking fans for more of their prayers.

On Tuesday (June 30), the Broadway stars wife, 38, shared a photo of herself smiling with the actor. "Heres hoping for a good week," the fitness trainer captioned the shot. "Prayer warriors please pray that his body gets stronger. Please pray that his Ph levels normalize. Please pray that he can get off blood pressure medicines. I believe in the power of prayer. 'Whatever you ask for in prayer you will receive if you have faith.' - Matthew 21:22."

Fans have remained patient as Kloots shared updates on her husband, who has been been hospitalized at Cedars-Sinai Medical Center in Los Angeles for three months. Not only has Cordero had his leg amputated due to complications from the respiratory virus, but he was placed in a medically-induced coma after surgery and started stem cell treatment to help his recovery. Kloots recently revealed that the star lost 65 pounds due to the condition.

Kloots recently shared another update on Cordero, admitting that he's in a "vicious ICU dance circle." "Nick is doing okay. It's just that he's in this vicious ICU dance circle, where one thing goes right and another thing goes wrong, and the thing that was wrong goes right but the thing that goes right then goes wrong," she said on her Instagram Story. "To me, right now, it's just like, 'How do we get out of this vicious circle this circle of the ICU?'"

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Nick Cordero's Wife Asks Fans To 'Pray That His Body Gets Stronger' - iHeartRadio

Myelofibrosis or osteomyelofibrosis is a myeloproliferative disorder which is characterized by proliferation of abnormal clone of hematopoietic stem cells. Myelofibrosis is a rare type of chronic leukemia which affects the blood forming function of the bone marrow tissue. National Institute of Health (NIH) has listed it as a rare disease as the prevalence of myelofibrosis in UK is as low as 0.5 cases per 100,000 population. The cause of myelofibrosis is the genetic mutation in bone marrow stem cells. The disorder is found to occur mainly in the people of age 50 or more and shows no symptoms at an early stage. The common symptoms associated with myelofibrosis include weakness, fatigue, anemia, splenomegaly (spleen enlargement) and gout. However, the disease progresses very slowly and 10% of the patients eventually develop acute myeloid leukemia. Treatment options for myelofibrosis are mainly to prevent the complications associated with low blood count and splenomegaly.

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The global market for myelofibrosis treatment is expected to grow moderately due to low incidence of a disease. However, increasing incidence of genetic disorders, lifestyle up-gradation and rise in smoking population are the factors which can boost the growth of global myelofibrosis treatment market. The high cost of therapy will the growth of global myelofibrosis treatment market.

The global market for myelofibrosis treatment is segmented on basis of treatment type, end user and geography:

As myelofibrosis is considered as non-curable disease treatment options mainly depend on visible symptoms of a disease. Primary stages of the myelofibrosis are treated with supportive therapies such as chemotherapy and radiation therapy. However, there are serious unmet needs in myelofibrosis treatment market due to lack of disease modifying agents. Approval of JAK1/JAK2 inhibitor Ruxolitinib in 2011 is considered as a breakthrough in myelofibrosis treatment. Stem cell transplantation for the treatment of myelofibrosis also holds tremendous potential for market growth but high cost of therapy is foreseen to limits the growth of the segment.

On the basis of treatment type, the global myelofibrosis treatment market has been segmented into blood transfusion, chemotherapy, androgen therapy and stem cell or bone marrow transplantation. Chemotherapy segment is expected to contribute major share due to easy availability of chemotherapeutic agents. Ruxolitinib is the only chemotherapeutic agent approved by the USFDA specifically for the treatment of myelofibrosis, which will drive the global myelofibrosis treatment market over the forecast period.

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Geographically, global myelofibrosis treatment market is segmented into five regions viz. North America, Latin America, Europe, Asia Pacific and Middle East & Africa. Northe America is anticipated to lead the global myelofibrosis treatment market due to comparatively high prevalence of the disease in the region.

Some of the key market players in the global myelofibrosis treatment market are Incyte Corporation, Novartis AG, Celgene Corporation, Mylan Pharmaceuticals Ulc., Bristol-Myers Squibb Company, Eli Lilly and Company, Taro Pharmaceuticals Inc., AllCells LLC, Lonza Group Ltd., ATCC Inc. and others.

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COVID 19 to Lead the Sales of Myelofibrosis Treatment to Register Stellar Growth in the Next 10 Years - The Canton Independent Sentinel

Michael Schumacher is still surviving as he continues to battle complications from the near-fatal head injury he sustained while skiing in 2013. It was reported that the F1 legend is set to undergo another round of stem cell procedure that will help regenerate his nervous system.

Facts about the reported new operation on Schumi

With this surgery, his family and doctors are hoping that he will be able to recover functions in parts of his body. This is because it is aimed at his sensory system that was affected by his injuries.

The Daily Mail reported that currently, Michael Schumacher is being treated and cared for by French cardiologist Dr. Philippe Menasche, a medical expert specializing in stem cell research. It was revealed that a series of surgeries are needed for this treatment, so this is just one of the racing champs operations for his recovery.

In an article that appeared in an Italian publication Le Dauphine, it was reported that Dr. Menasche will do seminal heart surgery on Schumi in his next surgery schedule. It was added that this will take place soon, but the exact date was not revealed.

It is also believed that this will be the second time that the said doctor is operating on Michael Schumacher. The first procedure was said to have been done in September 2019, and Schumi was in the hospital for about three days. At any rate, in this operation, his damaged cells will be replaced with healthy ones that will be taken from his bone marrow.

An experimental stem-cell surgery?

Michael Schumacher has not recovered from his accident that happened more than six years ago. He is currently being treated in his own home in Switzerland, but his exact condition is still a mystery since his family continues to keep everything related to his health a secret.

Dr. Nicola Acciari, a leading neurosurgeon, previously claimed that Michael Schumacher has osteoporosis and suffering from muscle atrophy since he is unable to move for years. The goal is to regenerate Michaels nervous system, The Sun quoted him as saying in connection to the stem cell therapy.

However, Jean-Michel Dcugis, a French journalist, shared to British daily national newspaper, The Times, that the procedure is experimental at this point since Dr. Menasche is actually a cardiologist.

"Our sources say that Michael Schumacher is receiving stem cell perfusions that produce a systemic anti-inflammatory effect, The Sun quoted Dcugis as saying. "It's quite mysterious as Menasch works only on the heart. He is carrying out experiments with secretome that is made by a laboratory from new stem cells and injected into veins, until now only on animals.

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Michael Schumacher is reportedly getting another stem-cell surgery; Journalist alleged it will be an experimental procedure - EconoTimes

Washington, July 2 : Anthony Fauci, the top US expert in infectious diseases, has expressed his concern over the sudden spike of COVID-19 cases in the country, warning of the risk of a greater outbreak if the latest surge is not controlled.

We got hit very badly, worse than any country, with regard to the number of cases and the number of deaths, Fauci told the BBC on Wednesday.

The problem were facing now is that in an attempt to so-called reopen or open the government and get it back to some form of normality, were seeing very disturbing spikes in different individual states in the US.

Weve got to get that under control or we risk an even greater outbreak in the US, he added.

As of Thursday, the US accounted for the worlds highest number of infections and fatalities with 2,685,806 and 128,061, respectively, according to the Johns Hopkins University.

Comparing the situation in the US to how some European countries controlled the spread of the virus, Fauci told the BBC: They closed down to the tune of about 97 per cent lockdown. In the US, even in the most strict lockdown, only about 50 per cent of the country locked down. That allowed the perpetuation of the outbreak.

We need to engender some societal responsibility in people, particularly the younger people, he said, adding that young people were less likely to be seriously affected by COVID-19 but could still spread the disease.

Faucis remarks on Wednesday came a day after he told the US Senate that he would not be surprised if new virus cases in the country reach 100,000 per day, the BBC reported.

Clearly we are not in control right now, Fauci testified, warning that not enough Americans are wearing masks or social distancing.

On Tuesday, cases rose by more than 40,000 in one day for the fourth time in the past five days.

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WHO says living with COVID-19 to be new normal as global cases top 10 mln - WeForNews

New York, July 1 : A team of US scientists, led by an Indian-origin researcher revealed that SARS-CoV-2 (coronavirus), the virus behind Covid-19, can infect heart cells in a lab dish.

This suggests it may be possible for heart cells in Covid-19 patients to be directly infected by the virus.

The discovery, published today in the journal Cell Reports Medicine, was made using heart muscle cells that were produced by stem cell technology.

We not only uncovered that these stem cell-derived heart cells are susceptible to infection by a novel coronavirus, but that the virus can also quickly divide within the heart muscle cells, said study researcher Arun Sharma from the Cedars-Sinai Board of Governors Regenerative Medicine Institute in the US.

Even more significant, the infected heart cells showed changes in their ability to beat after 72 hours of infection, Sharma added.Although many COVID-19 patients experience heart problems, the reasons remain unclear. Pre-existing cardiac conditions or inflammation and oxygen deprivation resulting from the infection have all been implicated.

But there has until now been only limited evidence the SARS-CoV-2 virus directly infects the individual muscle cells of the heart.The study also demonstrated human stem cell-derived heart cells infected by SARS-CoV-2 change their gene expression profile.This offers further confirmation the cells can be actively infected by the virus and activate innate cellular defence mechanisms in an effort to help clear-out the virus.

This viral pandemic is predominately defined by respiratory symptoms, but there are also cardiac complications, including arrhythmia, heart failure and viral myocarditis, said study co-author Clive Svendsen.

While this could be the result of massive inflammation in response to the virus, our data suggest that the heart could also be directly affected by the virus in Covid-19, Svendsen added.

Researchers also found that treatment with an ACE2 antibody was able to blunt viral replication on stem cell-derived heart cells, suggesting that the ACE2 receptor could be used by SARS-CoV-2 to enter human heart muscle cells.

By blocking the ACE2 protein with an antibody, the virus is not as easily able to bind to the ACE2 protein, and thus cannot easily enter the cell, said Sharma. This not only helps us understand the mechanisms of how this virus functions, but also suggests therapeutic approaches that could be used as a potential treatment for SARS-CoV-2 infection, he explained.

The study used human induced pluripotent stem cells (iPSCs), a type of stem cell that is created in the lab from a persons blood or skin cells. IPSCs can make any cell type found in the body, each one carrying the DNA of the individual. This work illustrates the power of being able to study human tissue in a dish, the authors wrote.

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Organoids are paving the way to understanding the effects of Covid-19 on the human body

These are lab-grown mini-organs like kidneys, lungs, livers and brains

This method is considered more ethical than testing on animals, but has its limitations

And no, this isnt like the human cloning you see in movies like The Island.

They are grown from human embryonic stem cells, programmed to organise themselves into whichever organ the scientist needs to experiment with.

They resemble tiny grey blobs, but are an important tool in replicating the pathology of viruses like Covid-19 in order to understand and discover treatments to help fight them.

Three methods of investigation

Various coronavirus studies have been done on lung, kidney, liver and cardiovascular system organoids.

According to a review published in Cell Press, the use of organoids is one of three methods of investigating the effects of a disease on the human body in a lab. The others are using human airway epithelial cells and animal testing.

See how they grow brain organoids below:

Some of the research so far has found invaluable data on Covid-19. Research published in Science on small intestinal organoids found that not only was it a target for the virus, it also was a hot spot for its replication.

Another study from China published in bioRxiv also analysed how receptive lung organoids are to the virus, and tested drugs like imatinib and mycophenolic acid to see if it inhibited the viruss effects. They concluded that organoids would be a powerful tool in faster screening of more treatments not yet ready for human trials.

While organoids better represent human cells, animal testing is sometimes considered more effective as it shows the effect of a virus and treatment across the whole biological system.

Organoids only show how a single organ is affected, and the human body is a system with many parts interacting with each other and not in isolation.

Animals used in Covid-19 studies include transgenic mice, Syrian hamsters, cats, ferrets and macaques. The virus, however, does not seem to replicate itself in ducks, pigs and chickens.

By-product of immune response

Experts, however, told Nature that organoids are much cheaper, produce faster results, and have far fewer ethical complications than testing on animals.

But they also note that its too early to tell if the findings from organoid studies are yet relevant enough, as theres a need for more complex organoids for better results.

It would also be difficult to ascertain whether Covid-19 is causing the damage in these organs, or if the damage is a byproduct of the bodys immune response, like the deadly cytokine storm.

Image credit: Pixabay

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Lab-grown mini-organs reveal the damage inflicted by Covid-19 - Health24

SOUTH SAN FRANCISCO, Calif., July 1, 2020 /PRNewswire/ --Genome Medical, a leading telegenomics technology and services company democratizing access to genomic-based medicine, today announced that it has raised $14 million to expand its clinical genetics care and operations. The funds will specifically support the accelerated development of the Genome Care DeliveryTM technology platform to address the rapid growth in virtual care needs and the shortage of genomic health care experts. Genome Medical will initially expand its patient engagement and care navigation platform for cancer, reproductive health and pharmacogenomics to bring the benefits of genomic medicine to a wider U.S. population.

This Series B extension financing was led by Samsung Catalyst Fund, which invests in the tech leaders of tomorrow to build a safer, smarter and more sustainable world. Existing investors, founders and additional growth partners also participated in this financing, bringing the total capital raised since Genome Medical was founded in 2016 to $60 million.

"The global COVID-19 pandemic and its health care impact are creating an unprecedented need for telehealth solutions. As a nationwide telehealth medical practice, Genome Medical is able to meet this need by expanding access to standard-of-care genetics and genomics through virtual health services -- reaching people everywhere in a timely and safe manner," said Lisa Alderson, CEO and Co-founder of Genome Medical. "We are pleased to partner with Samsung Catalyst Fund to forge consumer digital health technology together with genomic data and clinical genetics expertise to transform health care."

Advancements in genetic technology and testing have made preventive and personalized care more effective and affordable than ever, accelerating the adoption of precision medicine into routine clinical care for cancer, chronic diseases, reproductive health and genetic disorders. Importantly, these advancements also create new ways to monitor and treat infectious diseases and global outbreaks.

"Personalized medicine is the future of care, but too many health systems are not able to provide these critical services," said Francis Ho, Senior Vice President and Managing Director, Samsung Catalyst Fund. "When more patients and providers have access to cutting-edge genomic health technologies and expertise, we can save lives and improve health outcomes. The data and knowledge base built by Genome Medical will spur more innovation and help us focus on preventive methods for treating illnesses and new diseases. Samsung is excited to be a part of this journey."

Genome Medical's solutions are utilized by health systems, hospitals, payors, providers and employers to expand access to genetic health services. Genome Medical also services patients directly and accepts self-referrals. Approximately 17 percent of the population carries disease-related genetic mutations for which there are treatment or preventive options. By increasing access to genetics care, Genome Medical can directly improve outcomes for these individuals.

Genome Medical's growing network of genetic specialists provides on-demand, virtual care nationwide in the United States, with deep expertise across six major clinical areas: cancer, cardiovascular disease, reproductive health, pediatric genetics, pharmacogenomics and proactive health management. The Genome Care Delivery platform delivers education, engagement and provider-to-provider e-consults, as well as genetic wellness assessments and screening for population health management. The outcomes from this platform will make genomic medicine more affordable and accessible by providing the most up-to-date research and data-driven expertise. This includes a proprietary database to securely collect data on genomic profiles, electronic medical records, family health history and clinical insights.

Genome Medical's existing investors, founders and additional growth partners also participating in this financing included Chairman and Co-founder Randy Scott, Canaan Partners, Illumina Ventures, Echo Health Ventures, Perceptive Advisors, LRVHealth, Kaiser Permanente Ventures, Avestria Ventures, Casdin Capital, HealthInvest Equity Partners, Revelation Partners, Dreamers Fund, Flywheel Ventures and Manatt Ventures.

About Genome Medical Genome Medical is a national telegenomics technology, services and strategy company bringing genomic medicine to everyday care. Through our nationwide network of genetic specialists and efficient Genome Care DeliveryTM technology platform, we provide expert virtual genetic care for individuals and their families to improve health and well-being. We also help health care providers and their patients navigate the rapidly expanding field of genetics and utilize test results to understand the risk for disease, accelerate disease diagnosis, make informed treatment decisions and lower the cost of care. We are shepherding in a new era of genomic medicine by creating easy, efficient access to top genetic experts. Genome Medical is headquartered in South San Francisco. To learn more, visit genomemedical.comand follow @GenomeMed.

About Samsung Catalyst Fund Samsung Catalyst Fund is Samsung Electronics' evergreen multi-stage venture capital fund that invests in the new data economy and strategic ideas for Samsung's device solutions, mobile, and consumer electronics groups. Investments span across Mobile & Cloud Services, DeepTech Infrastructure, Biology + Tech, and Safety & Security. Through Samsung Catalyst Fund, entrepreneurs are enabled by Samsung's global brand, manufacturing and distribution, domain expertise, recruiting network, and world-class Innovation Fellows for advice and mentorship. For the latest news, please visit samsungcatalyst.com.

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The last known members of the Indigenous Beothuk people of Newfoundland were thought to have died out 200 years ago. But genes from these people have been found in a man living in Tennessee today, researchers reported.

Shanawdithit, a Beothuk woman who died of tuberculosis in 1829, was the last known Beothuk. The group had thrived in Newfoundland with as many as 2,000 people there, until the Europeans arrived in the early 1500s, bringing disease and pushing the Beothuk inland, away from their traditional fishing and hunting grounds, which led to their starvation.

However, even though the Beothuk culture is extinct, their genes are not. The new genetic study found "identical" Beothuk genes from Shanawdithit's uncle in a Tennessee man. They also found fairly-well matched genetic sequences in members of the modern-day Ojibwe (also known as the Chippewa) people, said study researcher Steven Carr, a professor of biology at Memorial University in Newfoundland, with a cross-appointment in population genetics with the university's Faculty of Medicine.

Related: 10 things we learned about the first Americans in 2018

The idea that the Beothuk live on isn't surprising to other Indigenous groups from the Newfoundland region. For instance, the oral traditions of Mi'kmaq First Nation (also spelled Miawpukek First Nation), a group whose history and geography overlap with that of the Beothuk, hold that Beothuk descendants have survived through the ages.

Carr conducted the study, in part, because "everybody wonders what happened to the Beothuk," he said. "There are people that claim descent from the Beothuk Indians," even though they don't have evidence to support such family ties. For instance, in 2017, a woman in North Carolina claimed to be of Beothuk descent after a commercial ancestry company, using incomplete data, mistakenly suggested this ancestry, according to the Canadian Broadcasting Corporation.

In an earlier study, published in 2017 in the journal Current Biology, researchers reported no close genetic relationship among three First Nation groups in Newfoundland: the Maritime Archaic, who lived in Newfoundland from about 8,000 to 3,400 years ago before mysteriously disappearing; the Palaeoeskimo, who visited and then lived on Newfoundland from about 3,800 to 1,000 years ago, meaning that they overlapped with the Maritime Archaic and the Beothuk; and the Beothuk, who lived on Newfoundland from about 2,000 to 200 years ago.

In the new study, published April 13 in the journal Genome, Carr reanalyzed already published genetic data from the Beothuk. In a nutshell, he looked at mitochondrial DNA (genetic data passed down from mothers to children) taken from the archaeological remains of 18 Beothuk individuals and the skulls of Shanawdithit's aunt and uncle, Demasduit and Nonosabasut, respectively. (These skulls had been stolen in 1828 and sent to the University of Edinburgh, but were repatriated to Newfoundland in March after a long campaign by the Mi'kmaq and other Indigenous groups, according to The Guardian.)

Carr searched for matches to the Beothuk mitochondrial DNA in GenBank, a database run by the U.S. National Institutes of Health that is chock-full of DNA sequences from research projects done around the world, as well as from people who use commercial DNA testing.

The search showed that a Tennessee man had mitochondrial DNA matching Nonosabasut, Carr said. The man told Carr he had traced his mother's side of the family five generations back, and he was surprised about his link to the Beothuk, as he wasn't aware of any First Nation relations in his genealogy tree.

"He's now extremely intrigued and will continue looking for that [First Nations link]," Carr said.

Just like in the Current Biology study, Carr found that the Maritime Archaic were not closely related to the Beothuk. However, the two groups do share a very distant ancestor; the oldest known Maritime Archaic individual who died at about the age of 12 in southern Labrador about 8,000 years ago, according to an analysis of the burial has DNA that is similar to the historic Beothuk, said William Fitzhugh, director of the Arctic Studies Center at the Smithsonian Institution, who was not involved with either study.

That's likely because the common ancestor of Indigenous Northeastern North America (except for the Innu and Innuit) date to at least 15,000 years ago, and the different groups that spread across this region likely descended from this ancestor, Carr said. However, the relationship between the Maritime Archaic and the Beothuk is distant, unlike the extremely close relation Carr found between the Beothuk and the Tennessee man.

Related: In images: An ancient long-headed woman reconstructed

The GenBank search also showed that the Beothuk and the ancient Maritime Archaic peoples from Newfoundland "both share ancestry with modern Canadian Ojibwe, meaning their genes can be traced back to ancestral Indian peoples in more geographically central regions [of Canada]," Fitzhugh told Live Science in an email.

However, the new study is limited by its sample size, Fitzhugh noted.

"One of my reactions is how complicated these DNA studies are and how dependent they are on available samples; that the technology of genomic analysis is relatively new and evolving rapidly, perhaps leading to different results," Fitzhugh said.

In an earlier study, Carr and colleagues looked for genetic links between the Beothuk and Mi'kmaq. But this 2017 study, published in the journal Mitochondrial DNA Part A, was small and the results were largely inconclusive, Carr said.

Despite these results, the study put them on the radar of Chief Mi'sel Joe of the Mi'kmaq First Nation. "The chief was interested in just having it demonstrated what they believed to be true," Carr said that the Mi'kmaq and the Beothuk had pursued "family relations" with one another before the Beothuk went culturally extinct, Joe told Live Science.

There is only one Mi'kmaq in GenBank, so next Carr plans to work with Mi'kmaq First Nation to determine whether the Beothuk and Mi'kmaq are closely related, he said. This new study will include at least 200 or more registered Mi'kmaq (also spelled Mig'maw) people, so it will be larger than the 2017 study, he noted. (Carr added that he is serving as the study's principal investigator and advisor to the Mi'kmaq in a private capacity, through his company Terra Nova Genomics. This project is being funded through a National Geographic Explorer grant to Mi'kmaq First Nation.)

The results from this study may help detail the historic relationship between the Beothuk and Mi'kmaq people.

"We shared the same island [of Newfoundland] and the island really is not that big," Joe said. "Of course, from time to time, our people would encounter them and sometimes live with them," Joe said. "It wasn't always friendly," because of rivalries, but other times it was, he said.

Originally published on Live Science.

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Genes from 'culturally extinct' Indigenous group discovered in unsuspecting Tennessee man - Livescience.com

Finding vaccines or drugs against COVID-19 is certainly one of the main current objectives of medical research centers worldwide. At Childrens National Medical Center, researchers are deploying technology tools from Amazon Web Services Inc. to combine hundreds of data sets to identify genes that might be targeted to treat many diseases, including COVID-19.

We know that there are a lot of drugs that target different genes,and we are particularly interested in, for example, can we repurpose some of these drugs to treatdifferent types of viruses, including COVID-19? said Wei Li (pictured), principal investigator at the Center for Genetic Medicine Research & Center for Cancer and Immunology Research at Childrens National Medical Center.

Li spoke with Stu Miniman, host of theCUBE, SiliconANGLE Medias livestreaming studio, during the AWS Public Sector Summit event. They discussed how the genome project can help combat COVID-19, as well as the role of AWS technology tools in scientific research. (* Disclosure below.)

The Childrens National Medical Center has been using computational biology and gene editing approaches to understand humangenome and disease, and it is particularly interested in a gene-editingtechnology called CRISPR screening, according to Li, who has a research background in computer science.

This is a fascinating technology because it tells you whether one of the 20,000human genes are connected with some certain disease phenotype in one single experiment, he said. We are tryingto, for example, perform machine-learning and data-mining approaches to find new clues of human diseasefrom the original mix and screening big data.

CRISPR screening and other similar screening methods have been widely used in recent years by several research laboratories to study virus infections, such as those related to HIV, Ebola, influenza and now coronavirus, according to Li. Then, the team at the Childrens National Medical Center had an idea: to connect all the sets of screening data related to these viruses to try to extract new information that cannot be identified in a single study.

Can we identify new patterns or new human genes that are commonly responsible for many different virus types? Or can we find some genes that work only from some certain type of viruses? he asked.

Researchers use AWS technology to process and analyze huge amount of data sets, in addition to creating an integrated database in the cloud, so that research results can be freely accessed around the world. It is estimated that AWS technology can reduce the time to process screening data from months to days, according to Li.

Two major benefits are expected from the outcome of this research project.

The first thing is that we hope to find some genes thatcan be potentially drug targets. So, if there are existing drugs that target the genes, then that would be perfect, because we dont need to do anything about this, he explained. And,in the end, we hope that these drugs can have the broad antiviral activity; that means that these drugs can be potentially used to treat COVID-19 and in the future if theres a new virus coming out.

Watch the complete video interview below, and be sure to check out more of SiliconANGLEs and theCUBEs coverage of the AWS Public Sector Summit event. (* Disclosure: TheCUBE is a paid media partner for the AWS Public Sector Summit Online event. Neither Amazon Web Services Inc., the sponsor for theCUBEs event coverage, nor other sponsors have editorial control over content on theCUBE or SiliconANGLE.)

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Children's National Medical Center and AWS partner for genome project targeting COVID-19 - SiliconANGLE

Risk factors that contribute to inter-individual differences in the age-of-onset of allergic diseases are poorly understood. The aim of this study was to identify genetic risk variants associated with the age at which symptoms of allergic disease first develop, considering information from asthma, hay fever and eczema. Self-reported age-of-onset information was available for 117,130 genotyped individuals of European ancestry from the UK Biobank study. For each individual, we identified the earliest age at which asthma, hay fever and/or eczema was first diagnosed and performed a genome-wide association study (GWAS) of this combined age-of-onset phenotype. We identified 50 variants with a significant independent association (P<310-8) with age-of-onset. Forty-five variants had comparable effects on the onset of the three individual diseases and 38 were also associated with allergic disease case-control status in an independent study (n = 222,484). We observed a strong negative genetic correlation between age-of-onset and case-control status of allergic disease (rg = -0.63, P = 4.510-61), indicating that cases with early disease onset have a greater burden of allergy risk alleles than those with late disease onset. Subsequently, a multivariate GWAS of age-of-onset and case-control status identified a further 26 associations that were missed by the univariate analyses of age-of-onset or case-control status only. Collectively, of the 76 variants identified, 18 represent novel associations for allergic disease. We identified 81 likely target genes of the 76 associated variants based on information from expression quantitative trait loci (eQTL) and non-synonymous variants, of which we highlight ADAM15, FOSL2, TRIM8, BMPR2, CD200R1, PRKCQ, NOD2, SMAD4, ABCA7 and UBE2L3. Our results support the notion that early and late onset allergic disease have partly distinct genetic architectures, potentially explaining known differences in pathophysiology between individuals.

PubMed

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Age-of-onset information helps identify 76 genetic variants associated with allergic disease. - Physician's Weekly

CAMBRIDGE, Mass., June 30, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced the retirement of Sandy Mahatme, Sareptas executive vice president, chief financial officer and chief business officer, from the company effective July 10, 2020. The company has commenced a search process to identify the future chief financial officer. During the interim period, the finance and accounting functions will report directly to Sareptas Chief Executive Officer, Doug Ingram, and other departments reporting to Mr. Mahatme will be overseen by members of Sareptas executive committee.

The Sarepta from which Sandy retires is a very different one from the organization he joined as our chief financial officer some eight years ago. And the Sarepta of today a financially solid biotechnology organization with perhaps the industrys deepest and most valuable pipeline of genetic medicine candidates with the potential to extend and improve lives would not have been possible without Sandys business acumen and dedication, said Doug Ingram, president and chief executive officer, Sarepta Therapeutics. On behalf of our board of directors and the entire organization, I want to wish Sandy all the best in his next journey and thank him for his invaluable and numerous contributions to our success and for having built a strong team of finance leaders who will continue to perform as he departs.

Said Mr. Mahatme, It has been a privilege to serve as Sareptas CFO and CBO for almost eight years and to have participated in its remarkable transformation and extraordinary growth. Working with this leadership team and our talented colleagues, we have built a strong foundation for Sareptas ongoing success in achieving its goal of changing the lives of patients with rare diseases around the world. Having built a strong team of finance, IT, facilities, manufacturing and business development professionals, I feel confident that this is a good time to transition to other opportunities, knowing that Sarepta is well-positioned to continue to lead the industry.

Sandy will continue to serve on the Board of Directors for Flexion Therapeutics, Inc., Aeglea BioTherapeutics, Inc., and Idorsia Pharmaceuticals Ltd.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visitwww.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Forward-Looking StatementThis press release contains "forward-looking statements." Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements regarding the search process to identify the future chief financial officer, the reporting structure during the interim period and the performance of the finance team; Sareptas potential to extend and improve lives; Sareptas goal of changing the lives of patients with rare diseases around the world; and Sarepta being well-positioned to continue to lead the industry.

These forward-looking statements involve risks and uncertainties, many of which are beyond Sareptas control. Known risk factors include, among others: Sarepta may not be able to execute on its business plans and goals, including meeting its expected or planned regulatory milestones and timelines, clinical development plans, and bringing its product candidates to market, due to a variety of reasons, many of which may be outside of Sareptas control, including possible limitations of company financial and other resources, manufacturing limitations that may not be anticipated or resolved for in a timely manner, regulatory, court or agency decisions, such as decisions by the United States Patent and Trademark Office with respect to patents that cover Sareptas product candidates and the COVID-19 pandemic; and those risks identified under the heading Risk Factors in Sareptas most recent Annual Report on Form 10-K for the year ended December 31, 2019, and most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) as well as other SEC filings made by Sarepta which you are encouraged to review.

Any of the foregoing risks could materially and adversely affect Sareptas business, results of operations and the trading price of Sareptas common stock. For a detailed description of risks and uncertainties Sarepta faces, you are encouraged to review the SEC filings made by Sarepta. We caution investors not to place considerable reliance on the forward-looking statements contained in this press release. Sarepta does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.

Internet Posting of Information

We routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan, 617-274-4052iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

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Sarepta Therapeutics Announces Retirement of Sandy Mahatme, Chief Financial Officer and Chief Business Officer - GlobeNewswire

A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.

The project, the results of which were published in the journal Nature, offered whole-genome sequencing as a diagnostic test to patients with rare diseases across an integrated health system, a world first in clinical genomics.

Whole genome sequencing is the technology used by the 100,000 Genomes Project, a service set up by the government which aims to introduce routine genetic diagnostic testing in the NHS. The integration of genetic research with NHS diagnostic systems increases the likelihood that a patient will receive a diagnosis and the chance this will be provided within weeks rather than months.

The multi-centre study, led by researchers at the National Institute for Health Research (NIHR) BioResource together with Genomics England, demonstrates how sequencing the whole genomes of large numbers of individuals in a standardised way can improve the diagnosis and treatment of patients with rare diseases.

The researchers, including experts from the University of Bristol, studied the genomes of groups of patients with similar symptoms, affecting different tissues, such as the brain, eyes, kidney, blood, or the immune system. They identified a genetic diagnosis for 60 per cent of individuals in one group of patients with early loss of vision.

Principal investigators Andrew Mumford, Professor of Haematology, and Moin Saleem, Professor of Paediatric Renal Medicine, led the set-up of the programme and oversaw regional enrolment in the South West. Professor Mumford provided national oversight for blood related disorders, while Professor Saleem managed inherited kidney diseases.

Professor Mumford and researchers in the School of Cellular and Molecular Medicine collaborated with the Bristol NIHR Biomedical Research Centre and the University of Cambridge to develop ways to improve the genetic identification of blood disorders, contributing significantly to the breakthrough diagnostic potential.

Professor Mumford said: This pioneering study illustrates the power of whole genome sequencing for diagnosis of rare human diseases. The approach developed in this research has paved the way for the flagship 100,000 Genomes Project and the introduction of whole genome sequencing into standard NHS care.

Professor Saleem established the UK National Renal Rare Disease Registry, and the national and international NephroS (Nephrotic Syndrome) groups, based within the UK Renal Registry in Bristol. These provided recruitment, essential genetic data, and DNA collection for the study. Researchers in Bristol provided functional and clinical insights leading to the discovery of causative genes relating to kidney disorders.

Professor Saleem said: Rare diseases in their entirety are common, in that there are more than 7,000 different rare diseases in total affecting about 7 per cent of the population. Most have a genetic cause, so this research for the first time brings the most powerful genetic sequencing capabilities to apply across the whole health service, meaning all patients will now have the best possible chance of finding their individual genetic defect.

In the study, funded mainly by the National Institute for Health Research, the entire genomes of almost 10,000 NHS patients with rare diseases were sequenced and searched for genetic causes of their conditions. Previously unobserved genetic differences causing known rare diseases were identified, in addition to genetic differences causing completely new genetic diseases.

The team identified more than 172 million genetic differences in the genomes of the patients, many of which were previously unknown. Most of these genetic differences have no effect on human health, so the researchers used new statistical methods and powerful supercomputers to search for the differences which cause disease a few hundred needles in the haystack.

Using a new analysis method developed specifically for the project, the team identified 95 genes in which rare genetic differences are statistically very likely to be the cause of rare diseases. Genetic differences in at least 79 of these genes have been shown definitively to cause disease.

The team searched for rare genetic differences in almost all of the 3.2 billion DNA letters that make up the genome of each patient. This contrasts with current clinical genomics tests, which usually examine a small fraction of the letters, where genetic differences are thought most likely to cause disease. By searching the entire genome researchers were able to explore the switches and dimmers of the genome the regulatory elements in DNA that control the activity of the thousands of genes.

The team showed that rare differences in these switches and dimmers, rather than disrupting the gene itself, affect whether or not the gene can be switched on at the correct intensity. Identifying genetic changes in regulatory elements that cause rare disease is not possible with the clinical genomics tests currently used by health services worldwide. It is only possible if the whole of the genetic code is analysed for each patient.

Dr Ernest Turro, from the University of Cambridge and the NIHR BioResource, said: We have shown that sequencing the whole genomes of patients with rare diseases routinely within a health system provides a more rapid and sensitive diagnostic service to patients than the previous fragmentary approach, and, simultaneously, it enhances genetics research for the future benefit of patients still waiting for a diagnosis.

"Thanks to the contributions of hundreds of physicians and researchers across the UK and abroad, we were able to study patients in sufficient numbers to identify the causes of even very rare diseases."

Paper:

Whole-genome sequencing of patients with rare diseases in a national health system, by Ernest Turro et alin Nature.

There are thousands of rare diseases and, together, they affect more than three million people in the UK. To tackle this challenge, the NIHR BioResource created a network of 57 NHS hospitals which focus on the care of patients with rare diseases.

Based on the emerging data from the present NIHR BioResource study and other studies by Genomics England, the UK government previously announced that the NHS will offer whole-genome sequencing analysis for all seriously ill children with a suspected genetic disorder, including those with cancer. The sequencing of whole genomes will expand to one million genomes per year by 2024.

Whole-genome sequencing will be phased in nationally for the diagnosis of rare diseases as the standard of care, ensuring equivalent care across the country.

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July: Genome sequencing rare diseases | News and features - University of Bristol

Christine Stanley, Ph.D., Chief Director of Clinical Genomics at Variantyx

The answer to questions about human disease can be found in our genes. The difficulty in the past has been the testing process, a sort of trial and error approach of drilling down into the multitude of variants that can be found within the genes, variants that when analyzed in tandem with detailed clinical histories can actually tell the story and lead to a faster diagnosis.

Human beings carry around 20,000 genes and, of those, approximately 5,000 are somewhat understood, and those genes can be associated with several diseases and each disease can be associated with dozens of clinical symptoms or more. It was believed that five percent or less of the human population carry variants involved in genetic diseases. But a recent study in the Annals of Internal Medicine, now suggests the number of people with variants linked to genetic diseases is closer to 20 percent. Many other factors may determine whether an individual actually develops a disorder, but these numbers suggest the acceptance of a new approach that provides the most useful diagnostic data from a single test thats easier on the patients and families and provides the shortest time to a diagnosis and the best chance at implementing treatments.

Here is an important reason. Parents with children suspected of having a genetic disease routinely face a diagnostic odyssey that typically lasts five to seven years and entails seeing an average of seven different physicians. Its an odyssey that comes with an average cost of diagnosis reaching $21,099, more than seven times the cost of a single whole-genome sequencing test.

Historically, genetic testing has been really disjointed. Tests that were developed 10 to 15 years ago are still being run today by laboratories. These tests target extremely specific areas for an exceedingly small number of changes that cause a certain disease. It is like looking under a lamp post. And an individual, who is suspected of having the disease, will be tested for one particular variant or a small number of variants. It is an approach that is lacking in quick, definitive, and accurate results. Unless the tested area accounted for the majority of the disease-causing variants, it then forces the ordering of more tests to try to find other causes of the disease, either within that same gene or within other genes. This is happening sequentially, so the patient keeps receiving negative results, and then additional tests are ordered and the merry-go-round can continue for years. It cost families financially and emotionally. Delaying the time to diagnosis can also close the effective treatment window in cases where early treatment is important for a good prognosis.

Ordering a single whole-genome sequencing (WGS) test right off the bat replaces almost all of those long, cumbersome, and costly processes. It all but eliminates having to endure multiple genetic tests because a patient needs only one sample and one turnaround time for the greatest chance to arrive at the correct diagnosis. More importantly, if the test results were negative and then a new gene associated with the patients disease is reported the next day, and that patient has a variant in that gene, a clinician can make that connection by reanalyzing the data rather than by bringing the patient back in for a new sample. In that way, genomic testing has really revolutionized the entire genetic testing industry by providing a comprehensive analysis with the shortest time to diagnosis.

Whole-genome sequencing does not require the mechanical step of isolating genes first. It enables the identification of different types of variants that labs do not typically see when one isolates genes. It also enables the use of sophisticated algorithms applied via software to allow for the ranking of variants in a way that pulls variants that are known to cause the disease to the top of the list for examination. Variants can also be ranked by looking at the severity of the effect of the variant on genes that most closely match the patients clinical symptoms. Those results are parsed based on the known inheritance patterns of these genes. Patients can be looked at through both of those lenses at the same timethe severity of the changes that are identified, and the changes that match with the clinical symptoms of the patient.

Whole-genome testing will soon become the first line of defense, rather than a last resort for families or individuals seeking clarity on genetic diseases because of its ability to incorporate sophisticated bioinformatics and data interpretation. It is a faster route for the proper diagnosis and treatment for both early-onset diseases like epilepsy and intellectual disabilities, as well as late-onset disorders like ataxia and ALS. It can be used to diagnose almost any genetic disorder spanning such areas as neurology, endocrinology, nephrology, hearing and vision loss, blood disorders like thalassemia, muscular dystrophy, etc. While insurance reimbursement can be challenging today, the insurance payers will come around, as they have always done in the past, because this test saves time, money, and supports better outcomes for patients.

About Christine Stanley, Ph.D.

Christine Stanley, Ph.D., is the Chief Director of Clinical Genomics for Variantyx, a provider of highly specialized genetic testing to clinicians and their patients. Christine is responsible for overseeing clinical genomic interpretations and regulatory compliance for the clinical laboratory.

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Eliminating the Long, Cumbersome and Costly Diagnosis of Genetic Diseases - HIT Consultant

DUBLIN, July 1, 2020 /PRNewswire/ -- The "Rare Disease Diagnostics: Technologies and Global Markets" report has been added to ResearchAndMarkets.com's offering.

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019, rising at a CAGR of 9.5% over the forecast period.

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

The research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

The report includes:

Market Insights

Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.

There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.

Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time because patients, families and physicians may have limited awareness of certain diseases, and the symptoms may not be informative to healthcare workers who may not have encountered such diseases before.

Extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.

In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use. Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024. By 2024, orphan drugs may make up as much as one-fifth of global prescription sales. Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses. Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.

More than 70% of rare diseases are inherited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), next-generation sequencing (NGS) and Sanger sequencing.

Key Topics Covered

Chapter 1 Introduction

Chapter 2 Summary and Highlights

Chapter 3 Overview

Chapter 4 Technology Background

Chapter 5 Rare Disease Diagnostics Initiatives

Chapter 6 Rare Disease Diagnostic Industries

Chapter 7 Rare Disease Diagnostics Strategic Alliances and Acquisitions

Chapter 8 Rare Disease Diagnostics Markets

Chapter 9 Rare Disease Diagnostics Patents and Intellectual Property

Chapter 10 Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/rp6ok6

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

Media Contact:

Research and Markets Laura Wood, Senior Manager [emailprotected]

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Rare Disease Diagnostics Industry Anticipated to Reach $26.7 Billion by 2024 - Market Shares by Disease Class, Indication, Analysis Platform, Analysis...

Hearing loss and tinnitus can occur due to noise exposure and may be associated with adverse effects on overall well-being due to anxiety, depression, sleep disorders, and various comorbidities.1 Determining the exact cause, circumstances of onset, and contributing factors to hearing loss and/or tinnitus can be challenging. In some cases, hearing loss can be attributed to a singular medical cause such as a disease, genetic condition, autoimmune disorder, medical treatment, or head trauma. However, in many individuals who are diagnosed with bilateral sensorineural hearing loss, the root cause may be difficult to determine, especially when considering a lifetime of exposures to noise and other ototoxicants. Evidence from animal research suggests that noise exposure may result in delayed-onset auditory system damage, which means that traditional audiometric testing may not immediately reveal noise-related auditory damage.2 Additionally, tinnitus is an entirely subjective experience that cannot be measured directly, and time-consuming psychoacoustic testing for tinnitus is not feasible in many clinical situations.3 Lastly, it can be difficult to accurately and precisely assess how hearing loss and tinnitus may have impacted a patient's quality of life; such an assessment relies on subjective patient reports usually gathered in conversations during a clinical appointment.

Shutterstock/wavebreakmedia, audiology, noise, military.

As audiology clinicians, our responsibility includes educating patients about factors that may contribute to hearing loss, helping them understand what may have caused the loss, mitigating hearing loss progression to the extent possible, and developing plans for future management of hearing loss and/or tinnitus. However, clinical appointments do not always allow adequate time for thorough and accurate case history review. With limited information derived from a case history and audiologic assessment, it may be difficult to determine the cause, onset, and risk for progression of auditory decline. To accurately understand an individual's hearing history as it relates to noise exposure, detailed information is needed about types, extent, and frequency of exposures throughout the patient's life. It is challenging but important to consider the fullest possible range of potential noise exposure, such as musical concerts, sporting events, fireworks, lawn equipment, noisy restaurants and bars, firearms, and motorsports. Assessment is all the more difficult because there is no widely accepted and meaningful way to interpret and quantify all relevant exposures. Audiologists must primarily hypothesize how a patient's noise exposure history may contribute to the eventual onset of hearing loss and/or tinnitus, and exercise best clinical judgment based on experience to project future outcomes. Audiologists use Occupational Safety and Health Administration (OSHA) and National Institute for Occupational Safety and Health (NIOSH) exposure guidelines to counsel patients on the proper use of hearing protection to prevent auditory damage, but have few options when counseling to explain hearing damage that may have already occurred.

Epidemiologic research is needed to better understand longitudinal relationships between noise exposure, hearing loss, and tinnitus.4 To address these relationships, the Noise Outcomes in Service Members Epidemiology Study (NOISE Study) was developed as a joint effort by the Department of Veterans Affairs (VA) Rehabilitation Research & Development (RR&D) National Center for Rehabilitative and Auditory Research (NCRAR) in Portland, OR, and the Department of Defense (DoD) Hearing Center of Excellence (HCE) in San Antonio, TX.5 This article explains the importance of longitudinal epidemiologic research as it relates to hearing health care, describes the data collection methods of the ongoing NOISE Study, and discusses how some NOISE Study tools can be used in clinical practice to improve patient outcomes.

Active duty military service members and veterans may be more susceptible than the general public to hearing loss and tinnitus, likely due to risk factors associated with military service, including noise exposure, chemical and blast exposures, and traumatic brain injury (TBI).6 In 2018, tinnitus and hearing loss were the two most prevalent military service-connected disabilities, with over two million cases.7

In 2006, the Institute of Medicine (IOM) acted on a congressional mandate to address issues related to hearing loss and tinnitus in the military. The IOM published Noise and Military Service: Implications for Hearing Loss and Tinnitus, which encouraged researchers to collect longitudinal data from service members and veterans relating to military and nonmilitary risk factors, auditory function, presence and severity of tinnitus, and other potentially correlated variables.8 The objectives of the IOM's recommendations were to learn more about the onset of hearing loss and tinnitus and how they change over time. This type of research would help to identify cohorts at greatest risk for auditory injury, guide effective hearing conservation programs, inform the development of advanced treatments to mitigate the underlying causes of hearing loss, and determine whether delayed-onset hearing loss and/or tinnitus occurs in humans. The NOISE Study was initiated as a direct result of the IOM's recommendations.

The NOISE Study, which began recruitment in 2014, aims to determine the prevalence, etiology, and effects of early-onset tinnitus and hearing loss among military service members in active duty and those who have recently left (within the past two and a half years ).5 Ultimately, this will involve a cohort of at least 1,500 participants and longitudinal annual follow-up data. Data collected for the study include noise and ototoxicant exposures, audiometric measurements, pre-existing medical conditions, including a history of TBI and mental health conditions, and perceived effects on quality of life. Recently, separated service members are being recruited to participate in the NOISE Study at the NCRAR, and active duty service members are being recruited at the HCE. To date, over 1,000 participants have been enrolled.

Longitudinal and epidemiologic studies lend themselves to collecting an abundance of data. The NOISE Study captures comprehensive audiometric measures gathered through pure-tone air conduction (0.25-16 kHz) and bone conduction (0.5-4 kHz) audiometry, immittance testing (tympanometry and acoustic reflexes), speech audiometry (speech reception thresholds and word recognition), Speech Recognition in Noise Testing (SPRINT), dichotic digits testing, distortion product otoacoustic emissions (DPOAE), and, when applicable, tinnitus loudness match, pitch match, and maskability testing (minimum masking level). This thorough audiometric evaluation takes approximately 90-120 minutes conducted first at the time of enrollment and then repeated every five years.

The NOISE Study also administers multiple questionnaires (15 for all participants, 18 for those with tinnitus) upon enrollment into the study, prior to audiometric evaluation, and again annually over the life of the study. In the first five years of the study, questionnaires were administered as paper forms in packets of up to 70 single-sided pages. Many participants found it cumbersome to manage and return the bulky questionnaire packets every year. This led to frequent data collection and processing lags and the need for time-consuming reminder phone calls and e-mails. In late 2019, all NOISE Study questionnaires were converted to an electronic format and made accessible via a web-based, HIPAA-compliant data collection tool (Research Electronic Data Capture or REDCap).9,10 While the use of this platform is still relatively new to the NOISE Study, we have already seen faster and higher rates of return on the annual follow-up questionnaires and observed fewer data error incidents.

The NOISE Study's successful transition to an electronic data collection platform highlights the potential value of automated data collection for clinical purposes. Clinical appointment time is frequently limited, forcing clinicians to prioritize and manage their time carefully and to consider what can be done to make clinical encounters as effective and beneficial as possible for patients. While it is not possible to administer all available instruments and outcome measures that might be informative, some of the NOISE study questionnaires could be implemented practically in clinical settings. Instead of asking patients to spend an additional 60 minutes in the medical office to fill out questionnaires, they could be given the option to complete the questionnaires electronically at their convenience before or after their appointment and from the comfort of their own home. This may help clinicians develop a more comprehensive understanding of their patients, and, in turn, give patients more confidence in the thoroughness of their care and treatment plan. The following questionnaires used in the NOISE Study could be of interest to practicing clinicians.

Tinnitus Screener (TS). This six-item tool was designed to determine the presence of tinnitus and to categorize identified tinnitus as constant, intermittent, occasional, or temporary.11 It also determines whether tinnitus is acute (more than six months) or chronic (less than six months). The TS takes only two to three minutes to complete, and can be included as an initial tool if a patient has specific questions about tinnitus, part of a routine case history, or administered before or after audiologic assessment. It can be a helpful starting point for counseling to determine whether intervention for tinnitus may be necessary.

Tinnitus and Hearing Survey (THS). When determining the need for clinical intervention, it is essential to distinguish between tinnitus and hearing difficulties.12 The THS is a 10-item instrument that can be used to distinguish problems due to tinnitus from those due to hearing loss or decreased sound tolerance (hyperacusis).13 Patients often describe their hearing difficulties as tinnitus, or vice versa. For these cases, the THS, which was designed to assess subjective distress related to a specific issue, can be used to examine hearing and tinnitus complaints separately. Two survey items address hyperacusis since this is often reported by patients who have tinnitus.

Many patients with hearing loss are hesitant to proceed with hearing aids. They may be unaware that tinnitus and hearing loss can be related, so they don't consider amplification to be potentially therapeutic for tinnitus. The THS may help in developing a better understanding of the source of a patient's auditory complaints.

Lifetime Exposure to Noise and Solvents Questionnaire (LENS-Q). This is an in-depth, self-report questionnaire used to quantify a lifetime history of continuous and impulse noise exposures as well as exposure to potentially ototoxic chemicals/-solvents from military occupational, non-military occupational, and non-occupational/recreational sources.14 Respondents are asked yes or no exposure questions in each section. Those who answer yes are asked to provide information concerning exposure duration, frequency, and use of hearing protection or other safety equipment. These details are essential to the longitudinal epidemiologic identification of potential risk factors for hearing loss and tinnitus.

Although the LENS-Q is not yet available for clinical use because the normative data have not yet been published, this instrument could eventually provide a basis for standardized scoring that describes an individual's risk level for hearing loss due to noise or chemical exposures. On average, the questionnaire takes 30 minutes to complete. If made available for completion prior to an audiologic clinical appointment, its findings could be very helpful as a framework for counseling.

Determining the onset and cause of hearing loss can be difficult, especially for patients who present with a lengthy history of noise and/or solvent exposure. No universally accepted method exists to identify individuals who are at increased risk for hearing loss based on exposure history, and no tool can effectively predict the impact of noise exposure on auditory function later in life. The ongoing NOISE Study aims to evaluate such effects in military service members and veterans. Tools and methods that have been created and/or implemented for the NOISE Study can also benefit patient outcomes in the audiology clinic setting. These tools can be adapted to obtain standardized measures and provide helpful perspectives to guide management plans.

Editor's note: The U.S. Army Medical Research Acquisition Activity, 820 Chandler Street, Fort Detrick MD 21702-5014 is the awarding and administering acquisition office. This work was supported by the Office of the Assistant Secretary of Defense for Health Affairs, through the Joint Warfighter Medical Research Program under Award No. W81XWH-17-1-0020. Opinions, interpretations, conclusions, and recommendations are those of the authors and are not necessarily endorsed by the Department of Defense. The use of REDCap acknowledges support from grant No. UL1TR002369.

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NOISE Study: Examining Hearing Loss, Tinnitus in the U.S.... : The Hearing Journal - LWW Journals

The global Genetic Modification Therapies market is expected to exceed more than US$ 3.5 Billion by 2024 at a CAGR of 34% in the given forecast period.

FYI, You will get latest updated report as per the COVID-19 Impact on this industry. Our updated reports will now feature detailed analysis that will help you make critical decisions.

Browse Full Report: https://www.marketresearchengine.com/genetic-modification-therapies-market

The global Genetic Modification Therapies market report provides geographic analysis covering regions, such as North America, Europe, Asia-Pacific, and Rest of the World. The Genetic Modification Therapies market for each region is further segmented for major countries including the U.S., Canada, Germany, the U.K., France, Italy, China, India, Japan, Brazil, South Africa, and others.

Genetic modification therapies, significantly gene therapy and RNA therapy, have existed for many years, with very little clinical success. However, recent enhancements in these therapies, together with higher delivery systems, additional economical and sturdy gene expression constructs, precise polymer editing tools, have brought this industry to the forefront, and its currently poised for explosive growth within the coming back years.

Because of the potentially curative nature of those medicines theres monumental potential in several applications, starting from cancer to neurology to rare diseases. Genetic modification therapies represent consecutive wave of medicines with monumental potential for treating and curing draining and high diseases. As a result of its wide scope, genetic modification therapy can play a vital role within the future world medical economy.

Continuing advances in key technologies like DNA editing, viral design and production, and gene expression, further as a pressing medical want in several serious and enervating disorders, are driving the expansion of the marketplace for genetic modification therapies. Developments in these multidisciplinary fields promise to advance the genetic modification therapies trade and build distinctive market opportunities.

The overall market is anticipated to witness important growth in opportunities for a spread of stakeholders within the returning decade. its necessary to spotlight that many technology suppliers, reaching to develop and / or support the event of gene therapies, with improved effectiveness and safety, have designed and already introduced advanced platforms for the engineering of vectors. Innovation during this domain has additionally semiconductor diode to the invention of novel molecular targets and strong the analysis pipelines of corporations targeted during this house. the potential to focus on numerous therapeutic areas is taken into account to be amongst the foremost outstanding growth drivers of this market.

Market Insights

The global Genetic Modification Therapies market is segregated on the basis of Platform Technology as Gene editing, Gene Therapies, Genetically Modified Cell Therapies, and RNA Therapies. Based on Delivery Technologies the global Genetic Modification Therapies market is segmented in AAV, Adenovirus, Lentivirus, Retrovirus, Other Viral, and Nonviral Based on End-User Industry the global Genetic Modification Therapies market is segmented in Hospitals, Diagnostics and Testing Laboratories, Academic and Research Organizations, and Others.

Based on Disease, the global Genetic Modification Therapies market is segmented in Cardiology, Oncology, Ophthalmology, Hematology, Musculoskeletal, Neurology, Rare Diseases, Other Indications.

Competitive Rivalry

4D Molecular Therapeutics, Abeona Therapeutics, Beam Therapeutics, Casebia Therapeutics, Editas Medicine, Fate Therapeutics, GE Healthcare, Hitachi Chemical Advanced Therapeutics, Immunocore, Jivana Biotechnology, and others are among the major players in the global Genetic Modification Therapies market. The companies are involved in several growth and expansion strategies to gain a competitive advantage. Industry participants also follow value chain integration with business operations in multiple stages of the value chain.

The Genetic Modification Therapies Market has been segmented as below:

The Genetic Modification Therapies Market is segmented on the lines of Genetic Modification Therapies Market, By Platform Technology, Genetic Modification Therapies Market, By Delivery Technologies, Genetic Modification Therapies Market, By End-User Industry, Genetic Modification Therapies Market, By Disease, Genetic Modification Therapies Market, By Region and Genetic Modification Therapies Market, By Company.

Genetic Modification Therapies Market, By Platform Technology this market is segmented on the basis of Gene editing, Gene Therapies, Genetically Modified Cell Therapies and RNA Therapies. Genetic Modification Therapies Market, By Delivery Technologies this market is segmented on the basis of AAV, Adenovirus, Lentivirus, Retrovirus, Other Viral and Nonviral. Genetic Modification Therapies Market, By End-User Industry this market is segmented on the basis of Hospitals, Diagnostics and Testing Laboratories, Academic and Research Organizations and Others. Genetic Modification Therapies Market, By Disease this market is segmented on the basis of Cardiology, Oncology, Ophthalmology, Hematology, Musculoskeletal, Neurology, Rare Diseases and Other Indications. Genetic Modification Therapies Market, By Region this market is segmented on the basis of North America, Europe, Asia-Pacific and Rest of the World. Genetic Modification Therapies Market, By Company this market is segmented on the basis of 4D Molecular Therapeutics, Abeona Therapeutics, Beam Therapeutics, Casebia Therapeutics, Editas Medicine, Fate Therapeutics, GE Healthcare, Hitachi Chemical Advanced Therapeutics, Immunocore and Jivana Biotechnology.

The report covers:

Report Scope:

The global Genetic Modification Therapies market report scope includes detailed study covering underlying factors influencing the industry trends.

The report covers analysis on regional and country level market dynamics. The scope also covers competitive overview providing company market shares along with company profiles for major revenue contributing companies.

The report scope includes detailed competitive outlook covering market shares and profiles key participants in the global Genetic Modification Therapies market share. Major industry players with significant revenue share include 4D Molecular Therapeutics, Abeona Therapeutics, Beam Therapeutics, Casebia Therapeutics, Editas Medicine, Fate Therapeutics, GE Healthcare, Hitachi Chemical Advanced Therapeutics, Immunocore, Jivana Biotechnology, and others.

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Genetic Modification Therapies Market 2020: Challenges, Growth, Types, Applications, Revenue, Insights, Growth Analysis, Competitive Landscape,...

The National Institutes of Health (NIH) has announced it will provide $75 million to continue funding its Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Networkwith a new emphasis on expanding genetic diversity within its studies.

NIHs National Human Genome Research Institutes (NHGRI) first launched the eMERGE Network in 2007 to use electronic health records and large biorepositories for genomics research that could be applied to clinical care. Now, more recent research has highlighted the need to generate datasets from more diverse populations to better understand estimates of disease risk in the general population, according to Prabarna Ganguly, Ph.D., science writer and editor for NHGRI, in a July 1 announcement.

The funding will begin this year and continue over the next five years, Ganguly said, with $61 million going directly to four clinical sites, including the Mayo Clinic, Vanderbilt University Medical Center, Brigham and Womens Hospital and Northwestern University. NIH plans for these sites to collectively recruit some 10,000 patientswith 35 percent to come from diverse populations.

In addition, NIH will fund six new enhanced diversity clinical sites, to include: the University of Alabama, the Icahn School of Medicine at Mount Sinai, Cincinnati Childrens Hospital Medical Center, Columbia University, the Childrens Hospital of Philadelphia, and the University of Washington Medical Center. These sites will recruit about 15,000 patients, with 75 percent or more coming from diverse ancestries, Ganguly said.

The goal of the clinical sites is to recruit participants from diverse groups, such as racial or ethnic minority populations, underserved populations, or populations who experience poorer medical outcomes, Ganguly said. The sites will then conduct and validate genomic risk-assessment and management methods for a number of common diseases, including coronary heart disease, Alzheimers disease, and diabetes.

The need for expanding the diversity of NIHs genetic pool for research is driven by the lack of diversity in polygenic risk scores, a new approach for assessing disease risk based on DNA variants. Until recently, these scores have almost exclusively involved people of European ancestry, Ganguly said. It is not clear how well the findings from these initial studies can be used for risk assessment in non-European ancestry populations.

NIH will also focus on adding new research variables such as age, body-mass index, alcohol use and other clinical dataall of which can affect risks for contracting diseases, Ganguly said.

The newly funded eMERGE sites will also leverage the NHGRI Genomic Data Science Analysis, Visualization, Informatics Lab-space (AnVIL) cloud-based resource to develop tools and workflows for generating integrated risk scores to be shared with the biomedical research and clinical genomics communities, Ganguly said. In addition, the agency will inform clinical decision support platforms with the data it collects from the eMERGE electronic health records.

NIH has allotted $13.4 million of the funding to go to Vanderbilt University for an eMERGE Network coordinating center.

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NIH to Provide $75M to Increase Diversity in Its eMERGE Network - Clinical OMICs News

Newswise Massachusetts Eye and Ear, a member hospital of Mass General Brigham, is entering into an exclusive licensing agreement with Biogen to develop a potential treatment for inherited retinal degeneration due to mutations in the PRPF31 gene, which are among the most common causes for autosomal dominant retinitis pigmentosa.

Inherited retinal degenerations (IRDs), such as retinitis pigmentosa, are a group of blinding eye diseases caused by mutations in over 270 different genes. Mutations in the PRPF31 gene are the second most common cause of dominant IRD and lead to defects in the function of the retinal pigment epithelial (RPE) cells and photoreceptors of the retina. Previous lab-based research performed by members of the Ocular Genomics Institute at Harvard Ophthalmology, led by Eric A. Pierce, MD, PhD, demonstrated that adeno-associated virus (AAV)-mediated gene augmentation therapy for PRPF31 can restore normal function to PRPF31 mutant RPE cells.

Biogen (Nasdaq: BIIB), a biopharmaceutical company that discovers, develops, and delivers worldwide innovative therapies for people living with serious neurological and neurodegenerative diseases as well as related therapeutic adjacencies, will build upon this prior work, and conduct the studies needed for clinical development of PRPF31 gene therapy. This includes the pre-clinical studies needed to support progression to clinical trials of PRPF31 gene therapy. As part of the agreement, Biogen will receive an exclusive license to develop the product worldwide and will be responsible for all U.S. Food and Drug-Administration (FDA) required investigational new drug (IND) enabling studies, clinical development and commercialization.

The treatment of IRDs with highly effective AAV-based gene therapies is core to Biogens ophthalmology strategy, said Chris Henderson, Head of Research, Biogen. This agreement underscores our commitment to that strategy and builds off of our acquisition of Nightstar Therapeutics in 2019 and our active clinical trials of gene therapies for different genetic forms of IRD. We are excited to work with Massachusetts Eye and Ear and look forward to applying our preclinical and clinical experience to their leading PRPF31 program.

We are thrilled to work with Biogen, who will bring to this effort its deep experience with the clinical development process, as we work toward our goal of developing a gene therapy for people with PRPF31-related eye disease, added Dr. Pierce, who is the William F. Chatlos Professor of Ophthalmology at Harvard Medical School. My ultimate hope for patients with inherited retinal disorders due to mutations in PRPF31 is that a gene therapy will preserve and potentially restore some of their vision.

About the Ocular Genomics Institute

The Ocular Genomics Institute at Harvard Ophthalmology aims to translate genomic medicine into precision ophthalmic care for patients with inherited eye disorders. It is home to one of the leading centers for early-phase clinical trials of therapies for inherited retinal degenerations, with seven gene-based and one stem cell trial currently in progress. The group works in conjunction with other departments throughout Harvard Medical School and Mass. Eye and Ear, including the Bioinformatics Center and Grousbeck Gene Therapy Center.

Dr. Pierces lab, established in 2011, is dedicated to research in an effort to improve the understanding of the molecular bases of IRDs so that rational therapies can be developed for these diseases.

In 2018, Mass. Eye and Ear surgeons performed the first post-FDA approval gene therapy for patients with a form of inherited retinal blindness caused by mutations in the gene RPE65 by injecting an AAV-based drug treatment into a patients eye, which restored vision in a 13-year-old boy. This therapy, called Luxturna, is now being used to treat patients with RPE65-associated retinal degeneration around the world.

One of the exciting aspects of our collaboration with Biogen is that mutations in the PRPF31 gene affect approximately 10 to 20 times more people than mutations in the RPE65 gene, said Dr. Pierce. Success with PRPF31 gene therapy could provide visual benefit to more patients, which is our ultimate goal.

Mass. Eye and Ear was one of the first centers to offer life-changing gene therapies to patients with inherited retinal disease, and we are thrilled with this new opportunity to develop a translational retinal therapy that could help even more patients, said Joan W. Miller, MD, Chief of Ophthalmology at Mass. Eye and Ear, Massachusetts General Hospital, and Brigham and Womens Hospital, and Chair of Ophthalmology and the David Glendenning Cogan Professor of Ophthalmology at Harvard Medical School.

According to Chris Coburn, Chief Innovation Officer, Mass General Brigham, the collaboration with Biogen illustrates the importance of academia and industry teaming to solve problems for patients worldwide. We are eager to see this progress reach patients who are challenged by blinding, degenerative eye disease, said Coburn. We look forward to working with Biogen to advance this break-through innovation.

Patients with an inherited retinal disease require genetic testing prior to being considered for any gene therapy treatment.

About Massachusetts Eye and Ear

Massachusetts Eye and Ear, founded in 1824, is an international center for treatment and research and a teaching hospital of Harvard Medical School. A member of Mass General Brigham, Mass. Eye and Ear specializes in ophthalmology (eye care) and otolaryngologyhead and neck surgery (ear, nose and throat care). Mass. Eye and Ear clinicians provide care ranging from the routine to the very complex. Also home to the world's largest community of hearing and vision researchers, Mass. Eye and Ear scientists are driven by a mission to discover the basic biology underlying conditions affecting the eyes, ears, nose, throat, head and neck and to develop new treatments and cures. In the 20192020 Best Hospitals Survey,U.S. News & World Reportranked Mass. Eye and Ear #4 in the nation for eye care and #2 for ear, nose and throat care.For more information about life-changing care and research at Mass. Eye and Ear, visit our blog,Focus, and follow us onInstagram,TwitterandFacebook.

About Harvard Medical School Department of Ophthalmology

The Harvard Medical SchoolDepartment of Ophthalmologyis one of the leading and largest academic departments of ophthalmology in the nation. Composed of nine affiliates (Massachusetts Eye and Ear, which is home to Schepens Eye Research Institute; Massachusetts General Hospital; Brigham and Womens Hospital; Boston Childrens Hospital; Beth Israel Deaconess Medical Center; Joslin Diabetes Center/Beetham Eye Institute; Veterans Affairs Boston Healthcare System; Veterans Affairs Maine Healthcare System; and Cambridge Health Alliance) and several international partners, the department draws upon the resources of a global team to pursue a singular goaleradicate blinding diseases so that all children born today will see throughout their lifetimes. Formally established in 1871, the department is committed to its three-fold mission of providing premier clinical care, conducting transformational research, and providing world-class training for tomorrows leaders in ophthalmology.

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Massachusetts Eye and Ear Enters Licensing Agreement with Biogen to Develop Treatment for Inherited Retinal Disorder - Newswise

Several new genes linked to an exceptionally long life have been discovered, according to a new study that examined the genomes of people living into their 100s, known as centenarians.

Using a new method, the researchers found four genes linked with a very long life: A gene called ABO, which is involved in determining blood type; a gene called CDKN2B, which regulates cell division; a gene called APOE, which is linked with Alzheimer's disease; and a gene called SH2B3, which was previously found to extend life in fruit flies.

The researchers hope that future studies will uncover even more genes linked with longevity, and figure out how these genes may affect the aging process.

"There's a reasonably strong genetic component to becoming a centenarian, and we want to find out what that is," said study researcher Stuart Kim, a professor in the Department of Developmental Biology and Genetics at Sanford University. "We're beginning to unravel the mystery" of why some people age so successfully compared to the normal population, Kim said. [Extending Life: 7 Ways to Live Past 100]

Previous studies have attempted to find variations in genes that are more common in the very old compared with younger people, but haven't had much luck. These studies looked through millions of variations in the human genome, but they might have missed some important associations.

The new study aimed to narrow the search for genes linked with long life by focusing on ones that are known to strongly affect a person's risk of age-related disease, like heart disease and Alzheimer's. The thinking is that these diseases increase a person's risk of dying early, and so genetic variants that increase the risk of these diseases would also decrease the chances of a long life, the researchers said.

The researchers first searched for longevity-linked genes in a population of about 800 people over age 100 and 5,400 people over age 90.

They found eight genes that were linked with a long life span, and were able to confirm four of these genes in a follow-up analysis of about 1,000 people ages 100 or over.

The study found that certain variants in the ABO, CDKN2B, APOE and SH2B3 genes were more common in centenarians than in people with a typical life span. (Adults in the United States have an average life expectancy of about 79 years, according to the Centers for Disease Control and Prevention.)

For example, the study found that the a genetic variation associated with type O blood was more common in centenarians than in the study's control group, meaning that there were slightly more centenarians with type O blood, compared to people with a typical life span. Previous studies have found that people with type O blood have a lower risk of coronary heart disease and cancer, and have lower cholesterol levels than people with other blood types.

Another genetic variant in the CDKN2B gene seems to play a role in whether cells continue to divide, or stop dividing. Given that the stoppage of cell division, called senescence, is thought to contribute to aging, having a gene variation that reduces cell senescence could be a factor that contributes to successful aging, Kim said.

Kim suspects that there are still more genes linked with a longer life span.

"I hope our paper inspires other people to continue searching for" genes linked with longevity, Kim said.

The study was published yesterday (Dec. 17) in the journal PLOS Genetics.

Follow Rachael Rettner @RachaelRettner. FollowLive Science @livescience, Facebook& Google+. Original article on Live Science.

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Living to 100: New Genes for Longevity Found | Live Science