Driven by specialised analytics systems and software, big data analytics has decreased the time required to double medical knowledge by half, thus compressing healthcare innovation cycle period, shows the much discussed Mary Meeker study titled Internet Trends 2017.

The presentation of the study isseen as an evidence of the proverbial big data-enabled revolution, that was predicted by experts like McKinsey and Company. "A big data revolution is under way in health care. Over the last decade pharmaceutical companies have been aggregating years of research and development data into medical data bases, while payors and providers have digitised their patient records, the McKinsey report had said four years ago.

Representational image. Reuters

The Mary Meeker study shows that in the 1980s it took seven years to double medical knowledge which has been decreased to only 3.5 years after 2010, on account of massive use of big data analytics in healthcare. Though most of the samples used in the study were US based, the global trends revealed in it are well visible in India too.

"Medicine and underlying biology is now becoming a data-driven science where large amounts of structured and unstructured data relating to biological systems and human health is being generated," says Dr Rohit Gupta of MedGenome, a genomics driven research and diagnostics company based in Bengaluru.

Dr Gupta told Firstpost that big data analytics has made it possible for MedGenome, which focuses on improving global health by decoding genetic information contained in an individual genome, to dive deeper into genetics research.

While any individual's genome information is useful for detecting the known mutations for diseases, underlying new patterns of complicated diseases and their progression requires genomics data from many individuals across populations sometimes several thousands to even few millions amounting to exabytes of information, he said.

All of which would have been a cumbersome process without the latest data analytics tools that big data analytics has brought forth.

The company that started work on building India-specific baseline data to develop more accurate gene-based diagnostic testing kits in the year 2015 now conducts 400 genetic tests across all key disease areas.

What is Big Data

According to Mitali Mukerji, senior principal scientist, Council of Scientific and Industrial Research when a large number of people and institutions digitally record health data either in health apps or in digitised clinics, these information become big data about health. The data acquired from these sources can be analysed to search for patterns or trends enabling a deeper insight into the health conditions for early actionable interventions.

Big data is growing bigger But big data analytics require big data. And proliferation of Information technology in the health sector has enhanced flow of big data exponentially from various sources like dedicated wearable health gadgets like fitness trackers and hospital data base. Big data collection in the health sector has also been made possible because of the proliferation of smartphones and health apps.

The Meeker study shows that the download of health apps have increased worldwide in 2016 to nearly 1,200 million from nearly 1,150 million in the last year and 36 percent of these apps belong to the fitness and 24 percent to the diseases and treatment ones.

Health apps help the users monitor their health. From watching calorie intake to fitness training the apps have every assistance required to maintain one's health. 7 minute workout, a health app with three million users helps one get that flat tummy, lose weight and strengthen the core with 12 different exercises. Fooducate, another app, helps keep track of what one eats. This app not only counts the calories one is consuming, but also shows the user a detailed breakdown of the nutrition present in a packaged food.

For Indian users, there's Healthifyme, which comes with a comprehensive database of more than 20,000 Indian foods. It also offers an on-demand fitness trainer, yoga instructor and dietician. With this app, one can set goals to lose weight and track their food and activity. There are also companies like GOQii, which provide Indian customers with subscription-based health and fitness services on their smartphones using fitness trackers that come free.

Dr Gupta of MedGenome explains that data accumulated in wearable devices can either be sent directly to the healthcare provider for any possible intervention or even predict possible hospitalisation in the next few days.

The Meeker study shows that global shipment of wearable gadgets grew from 26 million in 2014 to 102 million in 2016.

Another area that's shown growth is electronic health records. In the US, electronic health records in office-based physicians in United States have soared from 21 percent in 2004 to 87 percent in 2015. In fact, every hospital with 500 beds (in the US) generate 50 petabytes of health data.

Back home, the Ministry of Electronics and Information Technology, Government of India, runs Aadhar-based Online Registration System, a platform to help patients book appointments in major government hospitals. The portal has the potential to emerge into a source if big data offering insights on diseases, age groups, shortcomings in hospitals and areas to improve. The website claims to have already been used to make 8,77,054 appointments till date in 118 hospitals.

On account of permeation of digital technology in health care, data growth has recorded 48% growth year on year, the Meeker study says. The accumulated mass of data, according to it, has provided deeper insights in health conditions. The study shows drastic increase of citations from 5 million in 1977 to 27 million in 2017. Easy access to big data has ensured that scientists can now direct their investigations following patterns analysed from such information and less time is required to arrive at conclusion.

If a researcher has huge sets of data at his disposal, he/she can also find out patterns and simulate it through machine learning tools, which decreases the time required to arrive at a conclusion. Machine learning methods become more robust when they are fed with results analysed from big data, says Mukerji.

She further adds, These data simulation models, rely on primary information generated from a study to build predictive models that can help assess how human body would respond to a given perturbation, says Mukerji.

The Meeker also study shows that Archimedes data simulation models can conduct clinical trials from data related to 50,000 patients collected over a period of 30 years, in just a span of two months. In absence of this model it took seven years to conduct clinical trials on data related to 2,838 patients collected over a period of seven years.

As per this report in 2016 results of 25,400 number of clinical trial was publically available against 1,900 in 2009.

The study also shows that data simulation models used by laboratories have drastically decreased time required for clinical trials. Due to emergence of big data, rise in number of publically available clinical trials have also increased, it adds.

Big data in scientific research

The developments grown around big-data in healthcare has broken the silos in scientific research. For example, the field of genomics has taken a giant stride in evolving personalised and genetic medicine with the help of big data.

A good example of how big data analytics can help modern medicine is the Human Genome Project and the innumerous researches on genetics, which paved way for personalised medicine, would have been difficult without the democratisation of data, which is another boon of big data analytics. The study shows that in the year 2008 there were only 5 personalised medicines available and it has increased to 132 in the year 2016.

In India, a Bangalore-based integrated biotech company recently launched 'Avestagenome', a project to build a complete genetic, genealogical and medical database of the Parsi community. Avestha Gengraine Technologies (Avesthagen), which launched the project believes that the results from the Parsi genome project could result in disease prediction and accelerate the development of new therapies and diagnostics both within the community as well as outside.

MedGenome has also been working on the same direction. "We collaborate with leading hospitals and research institutions to collect samples with research consent, generate sequencing data in our labs and analyse it along with clinical data to discover new mutations and disease causing perturbations in genes or functional pathways. The resultant disease models and their predictions will become more accurate as and when more data becomes available.

Mukerji says that democratisation of data fuelled by proliferation of technology and big data has also democratised scientific research across geographical boundaries. Since data has been made easily accessible, any laboratory can now proceed with research, says Mukerji.

We only need to ensure that our efforts and resources are put in the right direction, she adds.

Challenges with big data

But Dr Gupta warns that big-data in itself does not guarantee reliability for collecting quality data is a difficult task.

Moreover, he said, In medicine and clinical genomics, domain knowledge often helps and is almost essential to not only understand but also finding ways to effectively use the knowledge derived from the data and bring meaningful insights from it.

Besides, big data gathering is heavily dependent on adaptation of digital health solutions, which further restricts the data to certain age groups. As per the Meeker report, 40 percent of millennial respondents covered in the study owned a wearable. On the other hand 26 percent and 10 percent of the Generation X and baby boomers, respectively, owned wearables.

Similarly, 48 percent millennials, 38 percent Generation X and 23 percent baby boomers go online to find a physician. The report also shows that 10 percent of the people using telemedicine and wearable proved themselves super adopters of the new healthcare technology in 2016 as compared to 2 percent in 2015. Collection of big data.

Every technology brings its own challenges, with big data analytics secure storage and collection of data without violating the privacy of research subjects, is an added challenge. Something, even the Meeker study does not answer.

Digital world is really scary, says Mukerji.

Though we try to secure our data with passwords in our devices, but someone somewhere has always access to it, she says.

The health apps which are downloaded in mobile phones often become the source of big-data not only for the company that has produced it but also to the other agencies which are hunting for data in the internet. "We often click various options while browsing internet and thus knowingly or unknowingly give a third party access to some data stored in the device or in the health app, she adds.

Dimiter V Dimitrov a health expert makes similar assertions in his report, 'Medical Internet of Things and Big Data in Healthcare'. He reports that even wearables often have a server which they interact to in a different language providing it with required information.

Although many devices now have sensors to collect data, they often talk with the server in their own language, he said in his report.

Even though the industry is still at a nascent stage, and privacy remains a concern, Mukerji says that agencies possessing health data can certainly share them with laboratories without disclosing patient identity.

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Big data analytics in healthcare: Fuelled by wearables and apps, medical research takes giant leap forward - Firstpost

Like many of you I find myself watching with a breaking heart as a young British couple faces the likely prospects that their young child, Charlie Gard, is going to die.

Charlie has mitochondrial DNA depletion syndrome which causes muscle weakness as well as the loss of functions including eating, talking, breathing and walking. He remains on life support as he has for the last eight months as medical professionals sought to care for the rare genetic condition.

Time is apparently up as far as the European health care and court system is concerned. The Great Ormond Street Hospital where little Charlie has been cared for recently received permission to turn off the life support, against the parent's wishes, as the child's condition continues to worsen. And people wonder what's wrong with socialized medicine. When fighting for a life becomes a dollars and cents decision, the individual's ability to battle is weighed against the government's purse. I guess the one thing you will find out with socialized medicine is exactly how much you're worth down to the last penny, at least in the government's eyes,

But what puzzles me is why there is such resistance against the child receiving medical care offered in America. Apparently the U.S. has one of two hospitals which have stepped up and offered to use an experimental treatment on young Charlie which they feel might offer him a slight chance of survival. Although the chance is slight, the parents Chris Gard and Connie Yates, are desperate to try anything at this point to give Charlie a fighting change.

Pope Francis and President Trump are both offering support of prayers and care for the young man as opposed to just writing him off. If there's a chance, even the slightest, for this child to survive and for those parents not to have to bury their son, then it should be explored.

So the question remains, if Charlie can be safely transported and there are entities interested in making it happen, why is the English medical community so opposed. Is it stubbornness? Is it a statement that impacts their system? Is it ego? Or is it just the culture of death we live in today sees so little value in human life that it's just not worth the time, effort and monetary investment? Is there a price tag on a life? And if so what determines that price tag?

Charlie deserves every opportunity to live. To fight. To receive care. His parents have the right to try and save their son.

If you disagree, I guess you just need ask yourself, if Christ was standing before you and you had to explain your feelings about the fate of this child, how would he feel about the justification behind your feelings?

Until the young boy passes I will continue to pray for his life and healing and every bit as important, that his life be regarded as something worth fighting for until the last resource is exhausted. But ultimately, it's in God's hands.

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Perplexed by English medical professionals desire to prevent care - Spencer Daily Reporter

MedCity News

Konica Minolta establishing itself as precision medicine player with $1B Ambry Genetics deal MedCity News Together with Ambry, we will have the most comprehensive set of diagnostic technologies for mapping an individual's genetic and biochemical makeup, as well as the capabilities to translate that knowledge into information the medical community can use ... Konica Minolta acquires Orange County firm Ambry Genetics in deal valued at up to $1 billionLos Angeles Times Konica Minolta to buy Ambry Genetics, deal worth up to $1 billionReuters Konica Minolta To Buy US Genetic Testing Firm Ambry Genetics For $1 BlnNasdaq all 34 news articles »

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Konica Minolta establishing itself as precision medicine player with $1B Ambry Genetics deal - MedCity News

The Congress of Future Medical Leaders recently took place in Lowell, Massachusetts.

I attended as an observer with my daughter, who is a rising senior, recruitment slang for a high school student entering her senior year.

Organized by the National Academy of Future Physicians and Medical Scientists, this conference attracted thousands of young delegates.

A cross between convention, lecture marathon and group hug, it took place in the cavernous Tsongas Center of the University of Massachusetts.

You may recall Sen. Paul Tsongas as a presidential candidate who ran against Bill Clinton years ago in the Democratic primaries. Despite a storied career of public service, he died at a young age.To this day he remains a favorite son of his hometown of Lowell.

The venue was therefore somewhat inspiring from the get-go.

A parade of Nobel Prize winners spoke, including Sir Richard Roberts, awarded the Nobel Prize in Physiology and Medicine in 1993 for research on the genetic material known as RNA.

Professor Leland Hartwell, 2001 Nobel laureate, described his research on cell biology, derived from yeast cell studies.

Professor Mario Capecchi, 2007 Nobel laureate, performed research on gene manipulation in mice, which may ultimately result in cures for inherited diseases.

Capecchi also described surviving throughout World War II after his Italian mother was taken to a concentration camp. He was only 4 and fending for himself. He was reunited with his mother and moved to America.

Dr. Michael Brown, of Southwestern Medical School, described the nine steps necessary to achieve a Nobel Prize, which he was awarded at age 44 along with collaborator Dr Joe Goldstein in 1985.

The amazing thing was Browns description of his high school years in Philadelphia, spending time building ham radios, playing baseball and rarely studying.

Georgetown University Dean Stephen Ray Mitchell described ongoing efforts to treat diabetes and chronic diseases in our nations capital city.

Dr. Rick Sacra described humanitarian missions to Liberia and his survival after contracting Ebola virus infection. His message emphasized the importance of serving others.

Not all the speakers were doctors.

Larry Hester, the recipient of a bionic eyeretinal implant system called the Argus II Retinal Prosthesis Device, described having partial vision restored after 33 years of blindness.

Carmen Tarleton, one of the worlds first recipients of a full-face transplant, described her road to recovery after being disfigured and blinded in a horrifying attack involving industrial-strength lye.

The stories all carried the theme of surviving and persevering, for doctors, researchers and those facing physical challenges.

Inventor Jack Andraka cooked up a new diagnostic test for pancreatic cancer in his kitchen at age 15. He is now attending college at Stanford.

Similarly, teenager Julian Cantu of Mexico developed noninvasive tests for detecting breast cancer using material from microwave ovens. He is still a teen.

Shree Bose, currently a medical student at Duke, discovered ways to overcome chemotherapy resistance when she was just 17.

Janelle Tam developed cellulose particles that fight aging, although she is herself a youthful graduate of Princeton University.

The last day of the conference included a talk by Dr. Shelley Hwang, a breast cancer surgeon who is pioneering a less invasive treatment approach to that disease.

The students also observed laparoscopic abdominal and chest surgery, broadcast live from an operating theater miles away.

We just scratched the surface of what we saw at the Congress in this brief column.

Master of Ceremonies Richard Rossi periodically appeared on stage, shouting, Energy, baby!

It worked for me. The conference no doubt propelled future medical leaders toward career success. Inspiration, along with perspiration, combine to foster advances in medicine.

Scott T. Anderson, M.D., Ph.D. (email [emailprotected]), is a clinical professor at University of Califoria, Davis Medical School. This column is informational and does not constitute medical advice.

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Congress of Future Medical Leaders inspires tomorrow's doctors - Fairfield Daily Republic

Saturday July 8 2017

Kenyans mark World Cancer Day on February 4, 2016 in Eldoret town. Tiny errors in DNA code can lead to cancer and other illnesses. PHOTO | JARED NYATAYA | NATION MEDIA GROUP

A revolution in the search for cancer treatments has been proposed by Englands chief medical officer.

Prof Sally Davies wants gene-testing to be introduced on a routine basis.

I want the National Health Service to be offering genomic medicine, that means diagnosis of our genes, to patients where they can possibly benefit, she said.

GENETIC TESTS Testing, she said, should be standard across cancer care as well as some other areas of medicine, including rare diseases and infections.

Doctors are already using genetic tests to identify and better treat different strains of the infectious disease, tuberculosis.

Humans have about 20,000 genes, bits of DNA code or instructions that control how our bodies work.

Tiny errors in this code can lead to cancer and other illnesses.

Gene-screening can reveal these errors by comparing tumour and normal DNA samples from the patient.

Professor Davies says in about two-thirds of cases, this information can improve their diagnosis and care.

Doctors can tailor treatments to the individual, picking the drugs most likely to be effective.

Currently, genetic testing in England is done at 25 regional laboratories, as well as some other small centres.

Professor Davies wants to centralise the service and set up a national network to ensure equal access to the testing across the country.

She said one hurdle could be doctors themselves, who dont like change.

Patients should persuade them to move from a local to a national service. *** Joe Furness was in Newcastle upon Tyne when he was invited to a party in London.

A three-hour, one-way train trip would cost him 78.50 (Sh10,517) and a plane flight 106, but Joe, aged 21, is a poor student and didnt have much money.

What he did have however was time. So Joe decided to take a detour via Spain.

CAR HIRE Flying from Newcastle to the Spanish island of Menorca cost him 16.00.

There he hired a car for 7.50 and spent the night in it, while sipping a 4.50 cocktail.

Next morning he flew to London for 11.00, joined the party, then grabbed a lift home with a pal afterwards.

Total cost of 39 was a saving of 39.50 on a train journey from Newcastle and 67 on a flight.

Distance travelled was 2,350 miles, against 290 miles from the North to London. *** Bradley Lowery is a six-year-old boy who won the hearts of the nation by campaigning for his beloved Sunderland Football Club and for its top scorer, Jermaine Defoe.

TV film of Defoe holding a smiling Bradley in his arms before a recent game appeared on nationwide television.

What everyone knows, of course, is that Bradley is dying from the childhood cancer neuroblastoma.

A fund-raising campaign raised money for him and will be used for other sick children when Bradley dies.

Now it seems fraudsters have been setting up pages on the internet claiming to be collecting for the boys cause.

His family have warned against them. Please be vigilant, they said in a message on Facebook.

You have to wonder, how low can some people stoop?

*** Some 400 plastic bottles are sold per second in this country and millions end up, along with other garbage, in the worlds oceans.

In fact, scientists calculate that by 2050, the oceans will contain more plastic by weight than fish.

The opposition Labour party is pressing for the introduction of a money-back return scheme, which has been introduced in many other countries and has proved successful in reducing the scale of littering.

You pay a bit extra for your drink but you get it back if you return the bottle, which the drinks company then recycles.

Coca-Cola, among others, is backing the idea. *** Famous one-liners:

Doctors recommend eight glasses of water per day. Why does this seem impossible when eight glasses of beer is so easy? Anonymous.

If you want to know what God thinks of money, look at the people he gave it to. American writer Dorothy Parker.

The two most beautiful words in the English language are Cheque enclosed. Dorothy Parker.

PLAGIARISM I asked God for a bike but I know He doesnt work that way, so I stole a bike and asked for forgiveness. Internet.

I wouldnt say I was the best football manager in the business, but I was in the top one. Brian Clough, British football manager.

To steal ideas from one person is plagiarism; to steal from many is research. Anonymous

England and America are two countries separated by a common language. Irish writer George Bernard Shaw.

If I agreed with you, then we would both be wrong. Internet.

Scene of crime officers camp at CS's Karen home and Bomas of Kenya.

Interior CS woke up and complained of a sharp chest pain before collapsing in his house.

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UK's chief medical officer calls for gene testing revolution in cancer treatment - Daily Nation

Konica Minolta to acquire U.S.-based Ambry Genetics in a deal valued at US$1 billion.

Konica Minolta, Inc.and Ambry Genetics Corporationannounced the signing of a definitive agreement for a subsidiary of Konica Minolta to acquire Ambry. The transaction is partially funded by Innovation Network Corporation of Japan (INCJ).

A reported $800 million will be paid upon closure, and there will be an additional payment of up to $200 million based on certain financial metrics over the next two years, valuing the acquisition up to a total of $1 billion.

Founded in 1999, Ambry is a privately held healthcare company in the U.S., led by founder, president and chairman Charles L.M. Dunlop and CEO Dr. Aaron Elliott. Ambry has a comprehensive suite of genetic testing solutions for inherited and non-inherited diseases as well as for numerous clinical specialties, including oncology, cardiology, pulmonology, neurology, and general genetics.

They are recognizedin diagnostic solutions for hereditary conditions in the United States, by having performed more than one million genetic tests and identified more than 45,000 mutations in at least 500 different genes. Ambry isthe first laboratory in the world to offer such tests as hereditary cancer panels and clinical exome sequencing.

Konica Minolta views the addition of Ambry as the first stepping-stone to create a new medical platform aimed at fulfilling the potential of precision medicinean emerging approach to healthcare where genetic or molecular analysis is used to match patients with the most appropriate treatment for their specific disease.

Precision medicine aims to improve a patient'squality of life and save the healthcare system money by eliminating unnecessary and ineffective treatments. Konica Minolta plans to bring Ambrys capabilities first to Japan, and then to Europe.

This acquisition is the first in a series of strategic initiatives to secure a leading position for Konica Minolta in precision medicine,said Shoei Yamana, president and CEO of Konica Minolta. The future of medicine is patient-focused. Together with Ambry, we will have the most comprehensive set of diagnostic technologies for mapping an individuals genetic and biochemical makeup, as well as the capabilities to translate that knowledge into information the medical community can use to discover, prevent, and cost-effectively treat diseases. This will not only serve as the future foundation for our healthcare business, but will pave the way for a fundamental shift in the way medicine is practiced globally.

The acquisition of Ambry and the advancement of precision medicine marks a strategicshift for Konica Minoltas healthcare business. Leveraging its long historyin materials science, nanofabrication, optics, and imaging, Konica Minolta has developed a comprehensive range of technologies and services in the healthcare field spanning digital X-ray diagnostic imaging systems, diagnostic ultrasound systems, and ICT service platforms for medical institutions.

Ambrys genetic testing capabilities complement Konica Minoltas advanced imaging technology to create the most comprehensive range of healthcare diagnostics for use by pharmaceutical companies, healthcare providers, payers, and consumers.

In 2015, Konica Minolta pioneered advanced immunostaining technologyHigh-Sensitivity Tissue Testing (HSTT)1that uses fluorescent nanoparticles to detect and quantify the proteins that drive disease states and offers far greater precision and accuracy than conventional immunostaining techniques.

With initial applications in oncology, the proprietary technology can determine the exact cellular location and amount of specific proteins that manifest in cells, offering an early-stage, highly precise diagnosis and insights into a patients disease that can inform research and a clinician'streatment plan.

Were excited by this opportunity to combine both our companies technologies to unlock new opportunities for precision medicine, said Charles Dunlop, president and chairman of Ambry Genetics. As a part of Konica Minolta, we will have the resources, technology, and scale to advance biomedical research and enable the matching of more patients in more countries with specialized medicines that target the underlying cause of their illness.

Konica Minoltas HSTT technology will be further enhanced by Ambrys genetics-based screening techniques, which enable clinicians to analyze both tumor and normal tissue to diagnose hereditary cancer, while also providing guidance regarding drug eligibility and response.

Ambry recently launched a combined genetic test for both inherited and acquired mutations in DNA mismatch repair genes to indicate appropriate treatment options for cancer patients who may benefit from PD-1/PD-L1 immunotherapy. PD-1 and PD-L1 checkpoint inhibitors help the patient's immune system recognize attack and destroy PD-L1-positive cancer cells that would otherwise evade detection by the immune system.

The combination of these bioinformatics capabilities, alongside Konica Minoltas HSTT technology, will create new opportunities for drug discovery and clinical trials not currently available, said Kiyotaka Fujii, senior executive officer, president, global healthcare, Konica Minolta. Konica Minolta will look to accelerate innovations by drawing on the strengths of both companies. In addition to introducing Ambrys genetic-testing capabilities to the Japan market, we will look to develop new bio-imaging and proteomic services and solutions to benefit doctors, patients, and pharmaceutical companies.

Under the terms of the agreement, Konica Minolta via Konica Minolta Healthcare Americas, Inc., (MHUS), a wholly owned subsidiary of Konica Minolta, and INCJ, will make an upfront, all-cash payment of $800 million to Ambry. MHUS will invest 60 percent and INCJ will account for the remaining 40 percent. In addition, Ambry shareholders will receive up to $200 million in incremental consideration based on certain financial metrics over the next two years, valuing the acquisition up to a total of $1 billion.

The transaction is expected to close in the third quarter of fiscal year 2017, subject to customary regulatory approvals. Ambry would thereafter become a consolidated subsidiary of Konica Minolta, continuing to operate under the Ambry name and headquartered in Aliso Viejo, California.

GCA Corporation acted as financial advisor to Konica Minolta and Baker McKenzie acted as legal advisor for this transaction. Intrepid Investment Bankers acted as financial advisor to Ambry and Jones Day acted as legal advisor. _____________________________________________________

Reference:

1A portion of the research on HSTT was commissioned under a project by the New Energy and Industrial Technology Development Organization (NEDO), Japan.

(Source: Business Wire)

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Konica Minolta Aiming for Top Position in Precision Medicine, $1B Acquisition - Pharmaceutical Processing

The case of Charlie Gard has garnered headlines after being noted by President Trump and Pope Francis. It also raises a number of medical and ethical issues.

The case of a terminally ill infant in the United Kingdom has drawn attention from both President Donald Trump and Pope Francis.

It also has experts weighing in on the complex ethics of treating a gravely ill infant.

Charlie Gard is just 11 months old and so sick he has been sedated and is on a ventilator.

Charlie has been diagnosed with RRM2B-related mitochondrial DNA depletion syndrome.

The genetic disease is so rare that Charlie may be just the 16th confirmed case of the disease, according to the National Institutes of Health (NIH).

The infants case made headlines after his parents attempted to raise funds to bring Charlie to the United States for experimental treatment not approved by his doctors in the United Kingdom.

The case has also cast an international spotlight on the complex ethical dilemmas faced by medical practitioners, family members, and sometimes court officials when treating a deadly disease with no proven cure.

Read more: Parents emotional agony when an infant undergoes heart surgery

The genetic condition affects Charlies mitochondria, kind of like the batteries that power nearly all human cells.

There are different forms of mitochondrial disease, but essentially they involve some genetic condition that causes an error in the mitochondrial function.

The disease can cause issues with cells getting enough energy to work properly.

As Charlies condition causes the mitochondria to be depleted over time, it can cause a host of issues in an infant body, which needs that energy to grow.

The fallout can include brain damage, muscle weakness, and difficulty breathing, according to the NIH.

Children diagnosed with Charlies specific condition are expected only to survive into their early childhood.

Dr. Shawn McCandless, the chief of the Pediatric Genetics Division at UH Cleveland Medical Center, said there is little that doctors can do for patients with mitochondrial disease aside from prescribing certain vitamins and antioxidants to try and slow the deterioration.

You can't produce energy effectively, McCandless told Healthline. [As a result, you] start to lose control of regulated cell death because its dependent on normal mitochondrial function.

Read more: Symptoms you shouldnt ignore in children

While the family raised more than 1.3 million pounds for treatment, Charlies doctors felt and later a U.K. court ruled that it would be in the childs best interests if the hospital is allowed to withdraw life support rather than transfer the infant to the United States.

That decision was again upheld by the European Court of Human Rights last month. According to U.K. court documents, this decision was made in part because there is no proven treatment that can effectively treat the disease, especially due to Charlies brain damage. Experts said the infant would likely be in continued pain.

Earlier this month President Donald Trump and Pope Francis weighed in, bringing more attention to the family.

Trump tweeted, If we can help little #CharlieGard, as per our friends in the U.K. and the Pope, we would be delighted to do so.

The popes spokesperson also reportedly said on the radio that the Pope was following the case. Later, a childrens hospital in Italy run by the Vatican said it would take in the infant for treatment.

Yesterday, a family spokesperson released a statement to U.K. media saying the family had been in touch with the White House.

Read more: How GOP healthcare bill would affect one Kansas family

Ethicists say that these emotional cases can put families and medical staff at odds despite the best intentions.

Dr. Maggie Moon, a member of the Johns Hopkins Hospital Ethics Committee, and professor at the Johns Hopkins Berman Institute of Bioethics, said she thinks its key for families to understand that at some point new treatments may be futile and do more harm than good.

Its the situation in which the therapeutic options [don't] match the therapeutic goals, Moon told Healthline.

She said its common in these emotionally charged cases that the medical teams goals and the familys goals may no longer align, despite everyone wanting the best for the patient.

For parents of children with rare or terminal illnesses they will try anything that may possibly help ... it's one way to express the love for your child, Moon said. To say I will not give up.

For the medical team, they have to weigh the potential benefits of treatment with the harms that come with treatment. Moon said the situation can be fraught with conflict, especially in the United Kingdom, where medical care is largely paid for by the state.

They're looking at [a] child with irreversible brain damage, Moon said. Theyre coming from a place of duty as a part of the state and medical community to protect the interest of the child.

The medical institution is seeing futility because no matter what they try next it will likely cause suffering with no anticipated benefit for this child said Moon.

Art Caplan, PhD, and bioethicist at the NYU Langone Medical Center, said the case also highlights differences in the U.K. and U.S. approach to medicine.

In the U.K., theres more deference to doctors opinions, he said. The U.S. is more patient oriented.

Hospitals have ethics committees that decide if an experimental treatment is ethical to pursue.

However, he explained, if patients push for a course of treatment approved at another hospital and can afford it, usually theyll be allowed to transfer.

In the U.S., the limiting factor for parents with a child like this is money, Caplan said.

McCandless said in the United States there are philosophical differences that would make it less likely for a court to intervene and stop treatment for a patient like Charlie.

We have a very strong belief that parents should make decisions for their child, barring an extreme situation, McCandless said. We generally will not intervene and the courts will not intervene.

In court documents, Charlies family reportedly wanted to come to the United States to pursue nucleoside therapy, which is still experimental.

Other patients with mitochondrial depletion disease had been treated with this therapy, but theyd had a different form of the disease than Charlie, according to the court documents.

The doctor in the United States, who had been contacted by the family and was unnamed in documents, said that after further reviewing Charlies case he found the infant to be so severely affected by brain damage that any attempt at therapy would be futile.

However, the doctor also made it clear that if Charlie made it to the United States he would still treat him if the parents so desired and could pay for it.

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Why British Medical Officials Won't Allow Terminally Ill Infant to be Treated Elsewhere - Healthline

1. Following treatment with metformin, mouse models of Fragile X syndrome (FXS) demonstrated restored neurological signaling activity and synaptic function.

2. Metformin administration reduced the behavioral and motor complications associated with FXS.

Evidence Rating Level: 2 (Good)

Study Rundown: FXS is the most common genetic cause of autism spectrum disorders, resulting in social and behavioral deficits, as well as developmental delays and seizures. Due to a mutation in the gene that codes for fragile X mental retardation protein (FMRP), patients have excessive activation of various signaling pathways including the mechanistic target of rapamycin (mTOR) and extracellular signalregulated kinase (ERK) pathways. Because metformin is known to play a role in inhibiting these pathways, this study assessed the efficacy of the drug for treating FXS.

When mice lacking FMRP were treated with metformin, they showed a decrease of seizures and other motor and behavioral qualities associated with FXS. In the brains of these mice, structural and functional neurologic deficits were improved following treatment. To address metformins mechanism of action in improving FXS symptoms, researchers showed that there was decreased activation of the ERK pathway in certain areas of the brain in the treated mice.

This study demonstrated that metformin, a drug commonly prescribed for diabetes, is a potential treatment for FXS. Because this drug has been tested previously, its safety profile is already known. Although the optimal dose and efficacy of this treatment in FXS patients need to be determined, metformin may be a new candidate therapy for this genetic disorder.

Click here to read the study in Nature Medicine

Relevant Reading: Fragile X syndrome: A review of clinical management

In-Depth [animal study]: Mice with a genetic deletion of FMRP were used as a model for FXS. When mice were administered 200 mg/kg of metformin daily for 10 days, they demonstrated decreased grooming activity (p< 0.01) and a decreased incidence of seizures. Staining of the dendrites in the treated mice revealed decreased density of dendritic spines to levels similar to wildtype mice (p<0.001), demonstrating the correction of structural neurological deficits. In addition to structural changes, the synaptic activity in pyramidal cells in the hippocampus was restored, with an increase in field excitatory postsynaptic potential slope (p< 0.01). In addition, one of the characteristic symptoms of FXS is enlarged testes, a trait that was improved through metformin treatment as seen by the reduction in testicular weight in treated mice (p<0.01).

Next, the mechanism of action of this drug was evaluated. Brain tissue was isolated from treated mice and immunoblots were performed on various areas of the brain. ERK levels were decreased in the prefrontal cortex and hippocampus of the FXS mice treated with metformin, and phosphorylated ERK levels were decreased in the striatum (p<0.05). Although ERK signaling was not rescued in all brain areas, the improvement was sufficient to ameliorate symptoms attributed to FXS.

Image: PD

2017 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

2 Minute Medicines The Classics in Medicine: Summaries of the Landmark Trials is available now in paperback and e-book editions.

This text summarizes the key trials in:General Medicine and Chronic Disease, Cardiology, Critical and Emergent Care, Endocrinology, Gastroenterology, Hematology and Oncology, Imaging, Infectious Disease, Nephrology, Neurology, Pediatrics, Psychiatry, Pulmonology, and Surgery.

Read more:

Metformin treats Fragile X syndrome symptoms in mice [PreClinical] - 2 Minute Medicine

1. Researchers used whole-exome sequencing to define the novel CHAPLE syndrome, characterized by a homozygous CD55 mutation with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy.

2. Eculizumab, an antibody against complement component C5a, reduced C5a levels in T-cell cultures from patients with CHAPLE syndrome and may be a potential therapeutic option for CHAPLE syndrome warranting further investigation.

Evidence Rating Level: 3 (Average)

Study Rundown: Genetic variants in CD55, a cell surface glycoprotein that attenuates activation of the complement system, is associated with paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy, and age-related macular degeneration. In this study, investigators sequenced the CD55 gene and defined five variations associated with a novel condition designated as CHAPLE syndrome (CD55 deficiency, hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy). Based on this data, the researchers demonstrated reduced complement levels in CHAPLE syndrome patients treated with the complement inhibitor eculizumab.

This was a case controlled study that characterized the phenotype and specific genetic variations of patients with a diagnosis of early-onset protein-losing enteropathy and biallelic CD55 mutations. Though the sample size was small, defining the genetics of this rare syndrome provides a better understanding of immune system regulation and opens the door for development of potential targeted therapies.

Click to read the study, published in NEJM

Relevant Reading: Loss of CD55 in eculizumab-responsive protein-losing enteropathy

In-Depth [case control study]: The authors enrolled 11 patients from eight consanguineous families diagnosed with persistent protein-losing enteropathy found to have biallelic loss-of-function mutations in the CD55 gene. They also investigated two deceased family members with similar symptoms. Whole-exome sequencing was performed to define the specific variations in the CD55 gene, and complement assays determined the degree of complement expression produced by patient T-cells. Researchers used the Exome Aggregation Consortium (ExAC) database to screen CD55 genes in over 60 000 unrelated persons without protein-losing enteropathy. Finally, the complement inhibitor eculizumab was incubated with T-cells from patients with CHAPLE syndrome to determine effect on complement production.

Based on the 11 individuals with defined biallelic loss-of-function mutations in CD55, the most common phenotypic features of CHAPLE syndrome were hypoalbuminemia (10/11), hypogammaglobinemia (11/11), and malabsorption (11/11). Histopathologic assessment of biopsy samples demonstrated variable degrees of lymphangiectasia (5/11), suggesting the diagnosis of primary intestinal lymphangiectasia in a subset of patients. Other characteristics displayed variable expressivity in patients, including bowel inflammation, edema (9/11), thrombotic disease (3/11), recurrent respiratory infections (5/11), and finger clubbing (5/11). Whole-exome sequencing revealed five distinct loss-of-function variants in the CD55 gene. Using the ExAC database, six individuals with early-onset protein-losing enteropathy were found to be homozygous for deleterious mutations in CD55. Of the over 60,000 individuals without protein-losing enteropathy 53 were found heterozygous for CD55 mutations, indicating heterozygous loss-of-function mutations are likely benign. Eculizumab was found to decrease complement production in T-cells of patients with CHAPLE syndrome.

Image: PD

20172 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

2 Minute Medicines The Classics in Medicine: Summaries of the Landmark Trials is available now in paperback and e-book editions.

This text summarizes the key trials in:General Medicine and Chronic Disease, Cardiology, Critical and Emergent Care, Endocrinology, Gastroenterology, Hematology and Oncology, Imaging, Infectious Disease, Nephrology, Neurology, Pediatrics, Psychiatry, Pulmonology, and Surgery.

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Homozygous complement component CD55 mutations cause novel gastrointestinal syndrome - 2 Minute Medicine

BBC News

6.8m genetic medicine plan for targeted treatment BBC News Patients in Wales will benefit from stronger services and more expertise in genetic medicine, under a new strategy. The 6.8m plan has been designed to ensure Wales is able to offer treatment plans revolutionised by better understanding of human DNA. Tories ask for government assurances over genetic medicine pledgeBarry and District News Government strategy strives for tailor-made healthcarePenarth Times all 4 news articles »

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6.8m genetic medicine plan for targeted treatment - BBC News

TOKYO & ALISO VIEJO, Calif.--(BUSINESS WIRE)--Konica Minolta, Inc. (Konica Minolta) (TOKYO: 4902) (ISIN: JP3300600008) and Ambry Genetics Corporation (Ambry) today announced the signing of a definitive agreement for a subsidiary of Konica Minolta to acquire Ambry. The transaction is partially funded by Innovation Network Corporation of Japan (INCJ). $800 million will be paid upon closure, and there will be an additional payment of up to $200 million based on certain financial metrics over the next two years, valuing the acquisition up to a total of $1.0 billion.

Founded in 1999, Ambry is a privately held healthcare company in the U.S., led by founder, President and Chairman Charles L.M. Dunlop and CEO Dr. Aaron Elliott. Ambry has the worlds most comprehensive suite of genetic testing solutions for inherited and non-inherited diseases as well as for numerous clinical specialties, including oncology, cardiology, pulmonology, neurology, and general genetics. They are recognized as a leader in diagnostic solutions for hereditary conditions in the United States, by having performed more than one million genetic tests and identified more than 45,000 mutations in at least 500 different genes. Ambry is known as a pioneer and thought leader in genetic testing being the first laboratory in the world to offer such tests as hereditary cancer panels and clinical exome sequencing.

Konica Minolta views the addition of Ambry as the first stepping-stone to create an exciting new medical platform aimed at fulfilling the potential of precision medicine an emerging approach to healthcare where genetic or molecular analysis is used to match patients with the most appropriate treatment for their specific disease. Precision medicine aims to improve a patients quality of life and save the healthcare system money by eliminating unnecessary and ineffective treatments. Konica Minolta plans to bring Ambrys capabilities first to Japan, and then to Europe.

This acquisition is the first in a series of strategic initiatives to secure a leading position for Konica Minolta in precision medicine, said Shoei Yamana, President and CEO of Konica Minolta. The future of medicine is patient-focused. Together with Ambry, we will have the most comprehensive set of diagnostic technologies for mapping an individuals genetic and biochemical makeup, as well as the capabilities to translate that knowledge into information the medical community can use to discover, prevent, and cost-effectively treat diseases. This will not only serve as the future foundation for our healthcare business, but will pave the way for a fundamental shift in the way medicine is practiced globally.

The acquisition of Ambry and the advancement of precision medicine marks a strategic and important shift for Konica Minoltas healthcare business. Leveraging its long history of innovation in materials science, nanofabrication, optics, and imaging, Konica Minolta has developed a comprehensive range of technologies and services in the healthcare field spanning digital X-ray diagnostic imaging systems, diagnostic ultrasound systems, and ICT service platforms for medical institutions.

Ambrys genetic testing capabilities complement Konica Minoltas advanced imaging technology to create the most comprehensive range of healthcare diagnostics for use by pharmaceutical companies, healthcare providers, payers, and consumers. In 2015, Konica Minolta pioneered advanced immunostaining technology High-Sensitivity Tissue Testing (HSTT)1 that uses fluorescent nanoparticles to detect and quantify the proteins that drive disease states and offers far greater precision and accuracy than conventional immunostaining techniques. With initial applications in oncology, the proprietary technology can determine the exact cellular location and amount of specific proteins that manifest in cells, offering an early-stage, highly precise diagnosis and insights into a patients disease that can inform research and a clinicians treatment plan.

Were excited by this opportunity to combine both our companies technologies to unlock new opportunities for precision medicine, said Charles Dunlop, President and Chairman of Ambry Genetics. As a part of Konica Minolta, we will have the resources, technology, and scale to advance biomedical research and enable the matching of more patients in more countries with specialized medicines that target the underlying cause of their illness.

Konica Minoltas HSTT technology will be further enhanced by Ambrys genetics-based screening techniques, which enable clinicians to analyze both tumor and normal tissue to diagnose hereditary cancer, while also providing guidance regarding drug eligibility and response. Ambry recently launched a combined genetic test for both inherited and acquired mutations in DNA mismatch repair genes to indicate appropriate treatment options for cancer patients who may benefit from PD-1/PD-L1 immunotherapy. PD-1 and PD-L1 checkpoint inhibitors help the patient's immune system recognize attack and destroy PD-L1-positive cancer cells that would otherwise evade detection by the immune system.

The combination of these bioinformatics capabilities, alongside Konica Minoltas HSTT technology, will create new opportunities for drug discovery and clinical trials not currently available, said Kiyotaka Fujii, Senior Executive Officer, President, Global Healthcare, Konica Minolta. Konica Minolta will look to accelerate innovations by drawing on the strengths of both companies. In addition to introducing Ambrys genetic-testing capabilities to the Japan market, we will look to develop new bio-imaging and proteomic services and solutions to benefit doctors, patients, and pharmaceutical companies.

Transaction Overview Under the terms of the agreement, Konica Minolta via Konica Minolta Healthcare Americas, Inc., (MHUS), a wholly owned subsidiary of Konica Minolta, and INCJ, will make an upfront, all-cash payment of $800 million to Ambry. MHUS will invest 60% and INCJ will account for the remaining 40%. In addition, Ambry shareholders will receive up to $200 million in incremental consideration based on certain financial metrics over the next two years, valuing the acquisition up to a total of $1.0 billion.

The transaction is expected to close in the third quarter of fiscal year 2017, subject to customary regulatory approvals. Ambry would thereafter become a consolidated subsidiary of Konica Minolta, continuing to operate under the Ambry name and headquartered in Aliso Viejo, California.

GCA Corporation acted as financial advisor to Konica Minolta and Baker McKenzie acted as legal advisor for this transaction. Intrepid Investment Bankers acted as financial advisor to Ambry and Jones Day acted as legal advisor.

ABOUT KONICA MINOLTA Konica Minolta, Inc. (Konica Minolta) is a global digital technology company with core strengths in imaging and data analysis, optics, materials, and nano-fabrication. Through innovation, we create products and digital solutions for the betterment of business and societytoday and for generations to come. Across our Business Technologies, Healthcare, and Industrial-facing businesses, we aspire to be an Integral Value Provider that applies the full range of our companys expertise to offer comprehensive solutions to our customers most pressing problems, work with our partners to ensure our solutions are sustainable, anticipate and address tomorrows issues, and tailor each solution to meet the unique and specific needs of our valued customers. Leveraging these capabilities, Konica Minolta contributes to productivity improvement and workflow change for our customers, and provides leading-edge service solutions in the IoT era.

Headquartered in Tokyo and with operations in more than 50 countries, Konica Minolta has more than 43,000 employees serving approximately two million customers in over 150 countries. Konica Minolta is listed on the Tokyo Stock Exchange, (TSE4902). For further information, visit: https://www.konicaminolta.com/

About Ambry Genetics Since 1999, Ambrys mission has remained focused on understanding disease so cures can come faster. Today, Ambry remains unwavering in its commitment to being tough, innovative, committed to quality and, most of all, focused to do what is right for patient care. For more information on Ambrys full suite of genetic testing, visit http://www.ambrygen.com

About INCJ Innovation Network Corporation of Japan (INCJ), a unique public-private partnership aimed at promoting innovation and enhancing the value of businesses in Japan, was launched in July 2009. For more information please see: http://www.incj.co.jp/english/

1 A portion of the research on HSTT was commissioned under a project by the New Energy and Industrial Technology Development Organization (NEDO), Japan.

See the article here:

Konica Minolta to Acquire US-based Ambry Genetics in a Deal Valued at US$1 billion - Business Wire (press release)

July 5, 2017 Credit: Cancer Research UK

Cancer patients should have routine access to genetic testing to improve diagnosis and treatment, according to England's chief medical officer.

Despite the UK being a world leader in genomic medicine its full potential is still not being realised, Professor Dame Sally Davies said in a new report.

Davies urged clinicians and the Government to work together and make wider use of new genetic techniques in an attempt to improve cancer survival rates.

Genetic testing can pinpoint the faults in DNA that have led to a cancer forming. Different cancers have different faults, and these determine which treatments may or may not work.

Such testing could lead to patients being diagnosed faster and receiving more targeted or precise treatments.

Davies said that "the age of precision medicine is now" and that the NHS must act quickly to remain world class.

"This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential." said Davies.

Sir Harpal Kumar, Cancer Research UK's chief executive, agreed, saying that it would be a disservice to patients if the UK were slow to respond to innovations in this area.

The report recommends that within 5 years training should be available to current and future clinicians and that all patients should be being offered genomic tests just as readily as they're given MRI scans today.

Davies also called for research and international collaboration to be prioritised, along with investment in research and services so that patients across the country have equal access.

However the report recognises potential challenges such as data protection issues and attitudes of clinicians and the public.

"This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS," added Sir Kumar.

"Cancer Research UK is determined to streamline research, to find the right clinical trial for cancer patients and to ensure laboratory discoveries benefit patients".

And the design of clinical trials are starting to change. A number of trials are underway, like Cancer Research UK's National Lung Matrix Trial with AstraZeneca and Pfizer, where patients with a certain type of lung cancer are assigned a specific treatment based on the genetic makeup of their cancer.

However, Sir Harpal Kumar stressed that to bring the report's vision to life the Government, the NHS, regulators and research funders need to act together.

Explore further: Adding abiraterone to standard treatment improves prostate cancer survival by 40 percent

Cancer Research UK is partnering with pharmaceutical companies AstraZeneca and Pfizer to create a pioneering clinical trial for patients with advanced lung cancer marking a new era of research into personalised medicines ...

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Greater access to genetic testing needed for cancer diagnosis and treatment - Medical Xpress

We recently had Dr. Craig Venter speak at our Splash Health 2017 event. Dr. Venter is the first person to sequence a human genome, simply put: the instructions and information about human development, physiology, and evolution. In his interview, he points out that 15 years ago, sequencing a human genome would have cost $100 million and take over nine months.

Oh how far weve come. Today, there are a number of companies helping us to analyze our genes, or basically our DNA, which make up genes, to understand our physiology. Advances in sequencing the human genome have been the foundation for this knowledge, and is ultimately paving the path toward personalized medicine - therapies that are personalized to a persons genetic code, and its cousin regenerative medicine - therapies that replace or enable damaged cells, organs to regenerate.

One company, Orig3n, is doing both. Boston-based Orig3n started out in 2014 collecting blood samples to conduct regenerative medicine studies, but later added in the ability to conduct DNA testing to learn more about a persons intelligence, or predisposition to learning languages, to knowing what vitamins theyre deficient in.

Its an interesting an unique funnel the company has created for itself on its way to solve big problems with regenerative medicine, which seems more in its infancy than DNA testing.

To that end, Orig3ns DNA testing business has taken off.

In order to be tested, you take a cotton swab and swab the inside of your cheek to collect DNA samples from the cells inside your mouth. Alternatively, one could spit in a tube, which is how 23andMe collects samples of DNA.

From there, Orig3n breaks down the cells to open up the DNA, which is inside the nucleus of the cell. The DNA is then purified and put into a genetic test panel. Your DNA is then analyzed against other DNA that have been collected and studied.

The analysis of the DNA is pretty standard. What differentiates its products, according to Robin Smith, Founder and CEO, is how the analysis is packaged and how quickly the results are turned around. The whole genome sequencing world has been around for 15 years and is fairly commoditized, said Smith. The same thing is happening with DNA detection. The biggest differentiator for Orig3n is that it delivers the data in ways that are understandable, said Smith.

For instance, on Orig3n, tests focus on an analysis of your skin to perfect your skincare routine, or about your strength and intelligence. Tests range from $20 to $100.

On Everlywell, you can take a DNA test to measure your sensitivity to foods. Or for around $239, it appears you can test to see if you have HIV, Herpes Type 2 and other sexual diseases.

On 23andMe, you can pay $199 to learn what proportion of your genes come from 31 populations worldwide, or what your genetic weight predisposes you to weigh vs an average and what are some healthy habits of people with your genetic makeup [though personally these habits seem to be good for anyone regardless of genetic makeup].

But for Orig3n, the DNA tests are just a good business while also a funnel to the bigger problem theyre trying to solve, and for which they recently raised $20 million for: Regenerative medicine.

Before offering the DNA tests, Orig3n was taking and continues to take blood samples, reprogramming cells to go back to a state three days prior. And from there, they can grow certain tissues. The purpose of Orig3n is to create cell therapies for various diseases and disorders.

In the next fives year, there will be real live therapies to repairing the degeneration of your eyes or performing some cardiac repair, Smith predicted. It feels like 1993 when I used a phone line to dial into the Internet, then seven years later we had the boom. We think regenerative medicine - getting your body to induce itself to rejuvenate parts that are broken - is where the Internet was in 1993.

Go here to see the original:

DNA testing - on the road to regenerative medicine - VatorNews

July 5, 2017 Credit: CC0 Public Domain

Pioneering research using the tropical zebrafish could provide new insights into the genetic basis of myopathy, a type of human muscle disease.

An international research team, led by Professor Philip Ingham FRS, inaugural Director of the University of Exeter's Living Systems Institutehas taken the first steps in determining the central role a specific gene mutation in a poorly characterised human myopathy.

Myopathies are diseases that prevent muscle fibres from functioning properly, causing muscular weakness. At present, there is no single treatment for the disease, as it can develop via a number of different pathways.

One particular type is nemaline myopathy, which primarily affects skeletal muscles and can lead to sufferers experiencing severe feeding and swallowing difficulties as well as limited locomotor activity.

Mutations in a specific gene, called MY018B, have recently been found to be present in people exhibiting symptoms of this disease, but the role these mutations play in muscle fibre integrity has until now been unclear.

In this new research, the Ingham team, based in Singapore and Exeter, has used high-resolution genetic analysis to create a zebrafish model of MYO18B malfunction; this research takes advantage of the remarkable similarity between the genomes of zebrafish and humans,which have more than 70 per cent of their genes in common.

The Singapore/Exeter team found that the MYO18B gene is active specifically in the 'fast-twitch' skeletal muscles of the zebrafish, typically used for powerful bursts of movement. Crucially, by studying fish in which the MYO18B gene is disrupted, they were able to show that it plays an essential role in the assembly of the bundles of actin and myosin filaments that give muscle fibres their contractile properties.

The team believe this new research offers a vital new step towards understanding the cause of myopathy in humans, which in turn could give rise to new, tailored treatments in the future.

The leading research is published in the scientific journal, Genetics.

Professor Ingham, said: "The identification of a MYO18B mutation in zebrafish provides the first direct evidence for its role in human myopathy and gives us a model in which to study the molecular basis of MYO18B function in muscle fibre integrity."

A pioneer in the genetic analysis of development using fruit flies and zebrafish as model systems, Prof Ingham is internationally renowned for his contributions to several influential discoveries in the field of developmental biology over the last century.

This is the latest research by Professor Ingham that has revealed important links between the processes that underpin normal embryonic development and disease.

His co-discovery of the 'Sonic Hedgehog' gene, recognised as one of 24 centennial milestones in the field of developmental biology by Nature, in 2004, led directly to the establishment of a biotechnology company that helped develop the first drug to target non-melanoma skin cancer.

The research comes at the University of Exeter holds the official opening of the Living Systems Institute with an Opening Symposium event, from July 5-6 2017.

Two Nobel Laureates, Sir Paul Nurse FRS and Christiane Nsslein-Volhard ForMemRS, who separately won the Nobel Prize for Physiology or Medicine, will deliver keynote speeches as part of the opening event.

The high-profile event, held at the University's Streatham Campus marks the official opening of the LSIa 52 million inter-disciplinary research facility designed to bring new, crucial insights into the causes and preventions of some of the most serious diseases facing humanity.

A Zebrafish Model for a Human Myopathy Associated with Mutation of the Unconventional Myosin MYO18B is published in Genetics.

Explore further: Zebrafish help identify mutant gene in rare muscle disease

Journal reference: Genetics

Provided by: University of Exeter

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Research could give insight into genetic basis of of the human muscle disease, myopathy - Medical Xpress

BBC News

Chief medical officer calls for gene testing revolution - BBC News BBC News Cancer patients should be routinely offered DNA tests to help select the best treatments for them, according to England's chief medical officer. Prof Dame Sally ... UK medical chief vows to spread 'genetics dream'Financial Times Cancer breakthrough: Treatment could be personalised to YOU by using your genesExpress.co.uk All cancer patients should have their DNA tested to save lives, Chief ...Telegraph.co.uk The Independent -Sky News -BT.com all 25 news articles »

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Chief medical officer calls for gene testing revolution - BBC News - BBC News

Appleholic, (noun), pl-hlk: An imaginative person who thinks about what Apple is doing, why and where it is going. Delivering popular Apple-related news, advice and entertainment since 1999.

Weve discussed before how Apples devices can be good for your health, but we should see the potential of its mobile health solutions take a quantum leap in the next few years, as genetic information is used to deliver utterly personalized, precision medical care.

The UKs chief medical officer this week recommended routine DNA testing for cancer patients to help develop personalized treatment.

"This technology has the potential to change medicine forever - but we need all NHS staff, patients and the public to recognise and embrace its huge potential, said Professor Dame Sally Davies. The age of precision medicine is now.

Think about the implications of this:

While such information isnt necessarily going to help develop treatments for every patient and every illness, there are some problems that can be better addressed once a persons genetic make-up is understood.

The idea must be that by understanding a persons individual genetic construction, it becomes easier to identify external factors that may impact that person.

While there are clear potential benefits, there are also concerns.

The World Health Organization warns that: Knowledge of genetic risks can lead to potential social and psychological consequences for the individual.

However, Dame Davies statement suggests such testing will become part of future healthcare it will be up to each of us to ensure such data doesnt become the thin end of a drive to genetic discrimination. There aredystopian ways to abuse such technologies.

How does this relate to Apple? Apple Watch can already help you to follow a healthy exercise routine. Its built-in heart rate monitor is already saving lives.

Apple is already working to extend the capabilities of its connected devices to monitor different types of health data, with Apple CEO Tim Cook reportedly wearing an iPhone-connected diabetes blood sugar monitor.

From software for medical research to development of new sensor technologies, there can be little doubt that Apple wants to build a connected ecosystem of products and services that may provide tangible benefits to public health.

There have been claims Apple is also expanding its reach into electronic health record technologies, citing a range of hires and acquisitions that appear to support this idea.

Apple also made numerous significant enhancements to its CareKit and ResearchKit frameworks at WWDC 2017, including the addition of more tracking options for diabetes treatment and better integration with healthcare provider platforms, such as Medables Synapse.

The idea might be that by securely combining a patient health data with ambient sensor-based insight, a person will be empowered to manage and improve their health, and healthcare professionals will be able to access deep collections of related data to help improve treatment and diagnosis.

There are also clear implications for artificial intelligence in this.

So now we have a situation in which an augmented human is better equipped to maintain their own health while also being empowered to monitor any existing conditions. (Though we still need effective ways to ensure health-focused solutions are actually good for your health).

Now imagine how much more effective such personalized solutions may become if informed about your own unique genomic code.

This combination should enable remote diagnostic systems to match a persons personalized status with current activity in order to determine potential future health challenges.

Apple has been exploring the potential of genetics in digital health since at least May 2015. Working with 23andMe, Apple in 2016 added a new ResearchKit module tht allows study participants to easily contribute their genetic data to medical research.

Collecting this type of information will help researchers determine genomic indicators for specific diseases and conditions, said Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Founding Director of the Icahn Institute for Genomics and Multiscale Biology.

The momentum behind use of genomic data in medical care and research in conjunction with the statement from the UKs chief medical officer suggests this will indeed become part of the future of healthcare.

Apple appears to be building itself a strong position to be part of that future.

Google+?If you use social media and happen to be a Google+ user, why not joinAppleHolic's Kool Aid Corner communityand join the conversation as we pursue the spirit of the New Model Apple?

Got a story?Drop me a line via Twitterand let me know. I'd like it if you chose to follow me on Twitter so I can let you know when fresh items are published here first on Computerworld.

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The future of medicine: Personal, ubiquitous, and mobile - Computerworld

Cancer patients should have routine access to genetic testing to improve diagnosis and treatment, according to Englands chief medical officer.

Despite the UK being a world leader in genomic medicine its full potential is still not being realised, Professor Dame Sally Davies said in a new report.

This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS. - Sir Harpal Kumar, Cancer Research UK

Davies urged clinicians and the Government to work together and make wider use of new genetic techniques in an attempt to improve cancer survival rates.

Genetic testing can pinpoint the faults in DNA that have led to a cancer forming. Different cancers have different faults, and these determine which treatments may or may not work.

Such testing could lead to patients being diagnosed faster and receiving more targeted or precise treatments.

Davies said that the age of precision medicine is now and that the NHS must act quickly to remain world class.

This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential. said Davies.

Sir Harpal Kumar, Cancer Research UKs chief executive, agreed, saying that it would be a disservice to patients if the UK were slow to respond to innovations in this area.

The report recommends that within 5 years training should be available to current and future clinicians and that all patients should be being offered genomic tests just as readily as theyre given MRI scans today.

Davies also called for research and international collaboration to be prioritised, along with investment in research and services so that patients across the country have equal access.

However the report recognises potential challenges such as data protection issues and attitudes of clinicians and the public.

This timely report from the chief medical officer showcases just how much is now possible in genomics research and care within the NHS, added Sir Kumar.

Cancer Research UK is determined to streamline research, to find the right clinical trial for cancer patients and to ensure laboratory discoveries benefit patients.

And the design of clinical trials are starting to change. A number of trials are underway, like Cancer Research UKs National Lung Matrix Trial with AstraZeneca and Pfizer, where patients with a certain type of lung cancer are assigned a specific treatment based on the genetic makeup of their cancer.

However, Sir Harpal Kumar stressed that to bring the reports vision to life the Government, the NHS, regulators and research funders need to act together.

Read this article:

Greater access to genetic testing needed for cancer diagnosis and treatment - Cancer Research UK

Three courts in Britain agreed with the hospital, as did the European Court of Human Rights, which last week rejected a last-ditch appeal by Charlies parents.

But Pope Francis and Mr. Trump have also weighed in, adding another dimension to an extraordinarily thorny bioethical and legal dispute that pits Britains medical and judicial establishment against the wishes of the childs parents.

Judges in the case have acknowledged that the case highlights differences in law and medicine and an American willingness to try anything, however unlikely the possibility of success but have held that prolonging the infants life would be inhumane and unreasonable. The case echoes the one of Terri Schiavo, a Florida woman who was left in a persistent vegetative state after a cardiac arrest and was also the subject of a court battle.

A Vatican spokesman, Greg Burke, told Vatican Radio on Sunday that the pope had been following the parents case with affection and sadness, praying that their desire to accompany and care for their own child to the end is not ignored.

Mr. Trump, who was not known to have previously expressed a view on the matter, wrote on Twitter on Monday that if the United States could help, we would be delighted to do so.

Both the pope and the president stopped short of criticizing the court rulings or the hospital. Helen Aguirre Ferr, the director of the White House office of media affairs, said Mr. Trump had decided to speak out after he learned about this heartbreaking situation. Mr. Trump has not spoken with the family, she said, and does not want to pressure them in any way.

The president is just trying to be helpful if at all possible, she added.

Charlie was born on Aug. 4, 2016, with encephalomyopathic mitochondrial DNA depletion syndrome. He is thought to be one of only 16 children globally with the condition, the result of a genetic mutation.

Brendan Lee, the chairman of the department of molecular and human genetics at Baylor College of Medicine, who is not involved the case, said in a phone interview that mitochondrial depletion syndrome has no cure. Treatments involve different types of vitamin supplementation, but none have been shown to definitively work through studies, he said.

Charlies parents, Connie Yates and Chris Gard, both in their 30s, have been waging a long and wrenching legal battle to keep him alive. They have raised more than 1.3 million pounds, or about $1.7 million, to help finance experimental treatment in the United States. There is also an international campaign, with an online petition and there have been street protests in front of Buckingham Palace.

Charlie has been treated since October at Great Ormond Street Hospital, where doctors eventually decided that withdrawing life support was the only justifiable option. Although Charlies parents have parental responsibility, overriding control is by law vested in the court exercising its independent and objective judgment in the childs best interests, the hospital said in a statement laying out its position.

Siding with the hospital were the High Court, on April 11; the Court of Appeal, on May 25; and the Supreme Court of the United Kingdom, on June 8.

The High Court ruled that Charlie would face significant harm if his suffering were to be prolonged without any realistic prospect of improvement. Moreover, it said the experimental treatment, known as nucleoside therapy, would not be effective.

Money is not at issue; an academic medical center in the United States has offered to provide the experimental treatment. But a neurologist at the hospital, who has offered to oversee the treatment, told the court by telephone: I can understand the opinion that he is so severely affected by encephalopathy that any attempt at therapy would be futile. I agree that it is very unlikely that he will improve with that therapy.

Neither the hospital nor the neurologist was identified in court documents, and the White House has declined to identify either.

The Court of Human Rights ruled last week that the British courts had acted appropriately in concluding that it was most likely Charlie was being exposed to continued pain, suffering and distress, and that undergoing experimental treatment with no prospects of success would offer no benefit, and continue to cause him significant harm.

The case has drawn attention to important differences in legal systems.

Claire Fenton-Glynn, a legal scholar at the University of Cambridge who studies childrens rights, said that under British law, the courts were the final arbiter in medical disputes about the treatment of children.

She noted a 2001 case of conjoined twins, Jodie and Mary, who were born sharing an aorta. Separating the twins would lead to the death of the weaker twin; if they were not separated, both would die. A court ruled that the twins should be separated against the wishes of their parents; as expected, one died.

Courts in the United States are less inclined to get involved when there are disputes between parents and doctors, said Professor Moreno of the University of Pennsylvania, stressing that it was usually left to doctors, in consultation with parents, to decide on a childs treatment.

He noted the case of Baby Jane Doe, who was born in 1983 with spina bifida and whose parents declined to approve surgery to prolong her life. That case led to a law, signed by President Ronald Reagan, that defined instances in which withholding medical treatment from infants could be considered child abuse, but also provided that in certain cases doctors and parents might choose to withhold treatment from seriously handicapped babies when such action would merely prolong dying.

G. Kevin Donovan, the director of the Pellegrino Center for Clinic Bioethics at Georgetown University Medical Center and a professor of pediatrics, said that in the United States, if parents insisted on continuing life-prolonging treatment against a doctors advice, the child would simply be transferred to another institution willing to comply with the parents wishes.

It doesnt seem to be a supportable position morally or ethically, he said of the stance taken by the hospital in London, adding that what is legal and what is ethical are not always the same.

In the Schiavo case, her husband, who was her legal guardian, wanted to have her feeding tube removed, but her parents disagreed, setting off a seven-year fight that ended in 2005, after courts ruled in the husbands favor. Life support was removed from Ms. Schiavo, who died at 41.

In that case, too, the pope, then John Paul II, and the president, George W. Bush, weighed in. Mr. Bush signed an act of Congress allowing federal courts to intercede in the case. But their interventions did not ultimately affect the outcome.

There was no immediate response to Mr. Trumps statement from Charlies parents, who last week appeared to accept the finality of the courts rulings. Photographs of the couple sleeping with their sick child have circulated on social media recently.

We are really grateful for all the support from the public at this extremely difficult time, Ms. Yates said on Friday. Were making precious memories that we can treasure forever with very heavy hearts. Please respect our privacy while we prepare to say the final goodbye to our son Charlie.

There was also no immediate reaction from the hospital.

In Charlies case we have been discussing for many months how the withdrawal of treatment may work, the hospital said. There would be no rush for any action to be taken immediately. It added that it would consult the family and that discussions and planning in these situations usually take some days.

Follow Dan Bilefsky @DanBilefsky and Sewell Chan @sewellchan on Twitter.

Aneri Pattani and Roni Caryn Rabin contributed reporting from New York, and Michael D. Shear from Washington.

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Trump and Pope Weigh In on Case of UK Child on Life Support - New York Times

Many people think of osteoarthritis as a kind of wear-and-tear disease, but theres clearly a genetic component at work here as well.

The researchers were studying a gene called GDF5 that Kingsleys laboratory first linked to skeletal growth in the early 1990s. GDF5 is involved in bone growth and joint formation, and mutations in the coding portion of the gene have been shown to cause malformations in leg-bone structure in mice. In humans, GDF5 mutations are associated with shorter stature and joint problems; in particular, two nucleotide changes immediately upstream of the gene have been strongly associated with a 1.2- to 1.8-fold increase in the risk of osteoarthritis.

In the new study, the researchers were interested in learning more about how the DNA sequences surrounding GDF5 might affect the genes expression. Often, these noncoding sequences contain key regulatory regions known as promoters and enhancers. Capellini, Chen and Cao were able to identify a previously unknown enhancer region they termed GROW1, which is several thousand nucleotides downstream of GDF5.

When the researchers analyzed the sequence of GROW1 in the 1,000 Genomes Project database, which collects and compares sequences from many human populations around the globe, they identified a single nucleotide change that is highly prevalent in Europeans and Asians but that rarely occurs in Africans. When they introduced this nucleotide change into laboratory mice, they found that it decreased the activity of GDF5 in the growth plates of the long bones of fetal mice.

Further research showed that this nucleotide change has been repeatedly favored during human evolution. Modern humans migrated from Africa between 50,000 and 100,000 years ago. But they werent the first to leave the continent. Neanderthals and Denisovans moved north into Europe and Asia about 600,000 years ago. Interestingly, the researchers found that the same GROW1 variant was found in the DNA of both ancient and modern humans in Europe and Asia.

However, theres a dark side to this stocky, hardy body type: The GDF5 variant that reduces bone length comes hand-in-hand with the two upstream nucleotide changes known to confer an increased risk for osteoarthritis.

Its clear that the genetic machinery around a gene can have a dramatic impact on how it works, said Capellini. The variant that decreases height is lowering the activity ofGDF5in the growth plates of the bone. Interestingly, the region that harbors this variant is closely linked to other mutations that affect GDF5 activity in the joints, increasing the risk of osteoarthritis in the knee and hip.

The potential medical impact of the finding is very interesting because so many people are affected, said Kingsley. This is an incredibly prevalent, and ancient, variant. Many people think of osteoarthritis as a kind of wear-and-tear disease, but theres clearly a genetic component at work here as well. Now weve shown that positive evolutionary selection has given rise to one of the most common height variants and arthritis risk factors known in human populations.

Researchers from the University of Waterloo in Ontario, Canada, also contributed to the study.

The research was supported by the National Sciences and Engineering Research Council of Canada, the Arthritis Foundation, the National Institutes of Health (grant AR42236), the Howard Hughes Medical Institute, the Milton Fund of Harvard, the China Scholarship Council and the Jason S. Bailey Fund of Harvard.

Stanfords Department of Developmental Biology also supported the work.

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Decreasing height, increasing arthritis risk evolutionarily advantageous for humans - Stanford Medical Center Report

Like many others, Ive been rewatching the Game of Thronestelevision series in preparation for the start of the seventh season later this month. So I dont think its all that odd that an image of Jon Snows first trip to the jaw-dropping Wall of ice (which rises 700 feet high) in the frozen north of Westeros popped up in my head as I began research for my latest release about human evolution, migration and genetic selection.

You see, like Snow, our early human ancestors moved north out of Africa into the much colder climates of Europe and Asiatens of thousands of years ago. And as their surroundings and weather changed, they adapted to these changing conditions by passing on genes that would enhance their descendants chances of survival. Paradoxically, however, this fancy genetic footwork seems to have favored a DNA sequence that not only reduces human height, but also increases the risk of osteoarthritis. It seems somewhat contrary to the survival of the fittest mantra that we all learned in high school.

The researchers, Stanford developmental biologist David Kingsley, PhD, and Harvard human evolutionary biologist Terence Capellini, PhD,Harvard graduate studentJiaxue Cao, and former Stanford postdoctoral scholarHao Chen, PhD, published their findings today in Nature Genetics.

From our release:

Now, researchers at the Stanford University School of Medicine and at Harvard University have shown that, despite its association with the painful joint disease, this genetic variant has been repeatedly favored as early humans migrated out of Africa and into colder northern climates. At least half of Europeans and Asians harbor the gene variant, which is relatively rare in African populations. []

A more compact body structure due to shorter bones could have helped our ancestors better withstand frostbite and reduce the risk of bone fracture from falling, the researchers speculate. These advantages in dealing with chilly temperatures and icy surfaces may have outweighed the threat of osteoarthritis, which usually occurs after prime reproductive age.

It wasnt just our early human ancestors who hit upon this solution, the researchers found. Our even more ancient cousins, the Neanderthals and the Denisovans, also singled out this same gene variant (through a process known in genetic circles as positive selection) when they left Africa about 600,000 years ago. Its evolutionary popularity means it is now present in billions of people.

As Kingsley explained:

The potential medical impact of the finding is very interesting because so many people are affected. This is an incredibly prevalent, and ancient, variant. Many people think of osteoarthritis as a kind of wear-and-tear disease, but theres clearly a genetic component at work here as well. Now weve shown that positive evolutionary selection has given rise to one of the most common height variants and arthritis risk factors known in human populations.

Previously: From whence the big toe? Stanford researchers investigate the genetics of upright walking, Its a blond thing: Stanford researchers suss out the molecular basis of hair colorand Comprehensive review of humans expansion out of Africa could lead to medical advances Photo by Jeff S. PhotoArt at HDCanvas.ca

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Genetic variant linked to osteoarthritis favored in cold climates - Scope (blog)