Page 1,513«..1020..1,5121,5131,5141,515..1,5201,530..»

Madison man is first Hmong-American to get an MD-Ph.D. – Post-Bulletin

Posted: July 10, 2017 at 6:44 am

MADISON, Wis. When Yeng Her's mother's kidneys failed, she wanted to try herbs and shaman rituals. But a Madison doctor said that without dialysis, she would die.

Her was 16, a junior at Memorial High School, the oldest of four children born in a refugee camp. As he fought to keep his mother alive, he struggled to translate language and culture between his Hmong family and Western medical providers.

"I felt powerless," he said. "That lit a fire inside of me to go into medicine and try to bridge these gaps."

Her is believed to be the first Hmong-American to get an M.D.-Ph.D., after receiving the degrees this spring at Mayo Clinic in Rochester.

He plans to return next year to UW-Madison, where he got his bachelor's degree, to do a residency in physical medicine and rehabilitation at UW Health. He will also pursue research on using stem cells to treat chronic pain.

Her became interested in helping people regain function after spending much of his childhood at Hmong refugee camps in Thailand. He was surrounded by people injured during the Vietnam War, in which the United States recruited Hmong soldiers, including Her's father, to fight communist forces. The wounded included his uncle, who was paralyzed on one side of his body.

"He didn't really get the treatment he needed at the camp," Her said. "That had a pretty profound effect on me."

Now 33 and married, with two children, Her is the first Hmong-American to get a medical degree and a doctor of philosophy degree, according to Victor Yang, who has tracked doctoral degrees among Hmong-Americans since 1985. Yang records the degrees in the blog Hmong St. Paul.

The National Institutes of Health and the Association of American Medical Colleges said they collect data on underrepresented groups, but don't have information on individuals that would allow them to confirm Her's singular feat.

For a man who had no formal education before coming to Wisconsin in 1994, at age 10, Her's completion of perhaps the most difficult, competitive program in academia is remarkable, his mentor at Mayo said.

"His determination to succeed against odds, to not take no for an answer and be stubborn and overcome challenges with hard work came through," said Jim Maher, dean of Mayo's Graduate School of Biomedical Sciences.

"He's a survivor," said Maher, who grew up in Middleton and got his bachelor's degree and Ph.D. at UW-Madison. "His family taught him to survive in really dire circumstances. ... It made him ready to tackle things that might have scared other people off."

As a child, Her lived in three refugee camps. His family occasionally had to ration food, and each child had only two outfits of clothing, but his parents bore most of the burden, he said.

"I had a pretty happy childhood, even though the camp was overcrowded," Her said, recalling games he improvised with other children that involved rocks, flip-flops and plastic straws.

When his family arrived in Madison, Her started fifth grade at Randall Elementary School, not knowing English or how to read in any language.

He didn't even know his first name. His family called him Soua, a shortened version of his middle name, Fransoua. When teachers called for Yeng, he didn't respond.

"They thought there was something wrong with me, like hearing issues or something like that," he said.

At Jefferson Middle School, he found his footing with Sarah Stewart, who taught English as a second language. She stayed after school most days to help him study.

"She became almost like a second mom to me," he said. "That is what really laid the foundation for me to get better grades."

Upward Bound, a program for students from families with low incomes or no bachelor's degrees, helped him succeed at Memorial, where he graduated in 2002.

At UW-Madison, Her initially planned to become a physician assistant. After doing well in chemistry, which became his major, he decided to become a doctor and a scientist.

His aspirations were shaped by the kidney disease that struck his mother, Yia Vang. She was skeptical of dialysis because her sister had a bad experience with the blood-cleansing procedure, but she eventually tried it and later got a kidney transplant.

She is doing well today working, along with her husband, Chong Lor Her, at Electronic Theater Control in Middleton, where they have been employed for about 20 years.

After graduating from UW-Madison, Her enrolled in Mayo's two-year Postbaccalaureate Research Education Program, which trains promising students from disadvantaged backgrounds for academic research.

The experience helped him get into Mayo's M.D.-Ph.D. program, a demanding, eight-year effort that starts and ends with two years of medical school, with four years of graduate school in between.

The Ph.D. portion, with Her specializing in biochemistry and molecular biology, was the most challenging, he said.

During his second year of research in Maher's lab, a lab in Paris published work he planned to do as half of his thesis. To salvage his degree, he had to focus on the other half. Six months later, a lab in San Diego published the other half.

"Everything that I wanted to do was out," Her said. "I went home and broke down. I contemplated stopping grad school."

With encouragement from his wife, Padao Yang, and help from an adviser, he identified a different way to apply his research. The result, a paper explaining how a lack of oxygen might make people living at high altitudes more susceptible to a rare cancer called familial paraganglioma, was published in 2015 in the journal PLOS ONE.

Her, Yang and their children moved last week to Fresno, Calif., where he will spend a year doing a medical internship in a city with a large Hmong-American population.

Then he'll start his three-year residency at UW Health, and do research on pain. Eventually, he wants to treat all kinds of rehab or pain patients, not just the Hmong community. But he thinks about setting up a clinic in Laos the Southeast Asian country where his parents grew up, and where many Hmong people live to help injured people there.

He also wants to promote higher education among Hmong-Americans. While at UW-Madison, he started a soccer team for middle school and high school students, incorporating family gatherings, educational seminars and tips on getting into college.

"This is the reason we're here in the United States, that we have this opportunity," Her said.

He is proud to tell his immigrant story. "Opening the door for people like myself to achieve the American dream, that's something we should do," he said.

Read more:
Madison man is first Hmong-American to get an MD-Ph.D. - Post-Bulletin

Posted in Wisconsin Stem Cells | Comments Off on Madison man is first Hmong-American to get an MD-Ph.D. – Post-Bulletin

6.8m genetic medicine plan for targeted treatment – BBC News

Posted: July 10, 2017 at 6:44 am


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

all 4 news articles »

More:
6.8m genetic medicine plan for targeted treatment - BBC News

Posted in Genetic medicine | Comments Off on 6.8m genetic medicine plan for targeted treatment – BBC News

The Future of Manufacturing a Medicine in America – Morning Consult

Posted: July 10, 2017 at 6:44 am

Whenever biopharmaceutical experts and policymakers discuss medical innovation, they seem to focus only on drug discovery and development and access. While these aspects of innovation are critical to ensuring patients have safe and effective treatments, they dont provide a complete picture of the biopharmaceutical innovation model and the total investment needed to get the right medicine to the right patient at the right time. Whats missing? An understanding of the role of biopharmaceutical manufacturing and the need for a supportive policy environment in order to ensure the United States maintains its place as the leader in discovering, developing and delivering innovative medicines.

In the past decade, manufacturing has become an even more complex element of the biopharmaceutical innovation ecosystem as there have been several paradigm shifts in clinical treatments and pharmacology that make drug manufacturing significantly more challenging. First, therapeutic innovations previously developed to treat millions of patients the so-called blockbuster medicines have been replaced by the precision medicine model. This model integrates genetic information to help researchers understand which particular subgroup of patients will most likely benefit from a specific treatment. This scientific progress is leading to the development of medicines targeted for much smaller patient populations. Thus, biopharmaceutical companies now need to manufacture smaller batches and incorporate shorter production lines into their manufacturing process, which means they need to be more nimble and think beyond just efficiency to ensure production levels match the new innovative landscape in their manufacturing practices.

Second, diseases today are more often managed with medicines administered through intricate delivery systems. Complex therapies deliver important drugs directly to the site of the disease by bypassing traditional modes of delivery through oral intake. So now manufacturers have to think about how to make both the delivery device as well as the medicine.

Third, certain diseases are managed or prevented through biologics or vaccines. Unlike synthesized medicines which are made by combining specific chemical ingredients in a laboratory environment, these therapies are derived from living cell lines which cannot be fully characterized by traditional methods in a lab. For biologics and vaccines, the final product is influenced by the manufacturing process as the product is the process. An example of a therapy that requires this type of manufacturing complexity is a breakthrough vaccine for pneumococcal diseases. You may wonder what does it take to manufacture a single dose of that vaccine? It takes no less than 2.5 years, the collaboration of 1,700 researchers, engineers and other manufacturing experts, more than 400 raw materials and 678 quality tests in 581 steps to produce a single dose. Any minute deficiency in this long and laborious manufacturing process and/or ingredient integrity could possibly lead to failure.

Beyond better health, the benefit of manufacturing excellence is also captured in the economic value it generates for local communities in states all across the country. In the United States alone, there are close to 300,000 biopharmaceutical manufacturing jobs, with an average salary of close to $100,000 annually. This average salary is in the top 2 percent of all manufacturing jobs in the U.S. Pfizer currently has 17 manufacturing sites in 11 states and Puerto Rico that employ more than 12,000 people, and has invested $2 billion in these sites over the past five years. Estimates put Pfizers contribution to both direct and indirect jobs in the U.S. at 51,000.

The Pfizer facilities are not only responsible for manufacturing safe and innovative medicines, but some of the sites also produce active product ingredients. The API is the actual substance or raw material used to produce the medicine that patients consume. In fact, the Pfizer facility in Kalamazoo, Mich., is so cost-efficient that it manufactures APIs for methylprednisolone that Pfizer then sells to manufacturers in China and India, something not commonly observed in other traditional manufacturing sectors.

To make biopharmaceutical manufacturing a centerpiece of U.S. economic growth, policymakers need to address a few policy hurdles. First, they need to reform the U.S. tax code to encourage companies to further invest in U.S. pharmaceutical manufacturing. Next, the Food and Drug Administration ought to forge a proactive partnership with industry to develop practical regulatory solutions to advance and encourage domestic biopharmaceutical manufacturing expertise while protecting world-class quality control and good manufacturing processes. Lastly, the federal government needs to ensure appropriate and timely implementation of Section 3016 of the 21st Century Cures Act, which allows the FDA to issue grants to further the study of continuous manufacturing of drugs and biologics.

In an effort to get important medicines to patients in need, biopharmaceutical companies discover, develop, manage access and manufacture medicines. The innovation cycle is not complete if a company is not able to appropriately navigate the complicated yet crucial manufacturing process. A pro-active, supportive policy environment is the linchpin to ensuring the United States remains at the forefront of biopharmaceutical innovation and manufacturing.

Robert Popovian is the vice president of Pfizer U.S. Government Relations. He has two decades of experience in the biopharmaceutical health care industry and has published and presented extensively on the impact of pharmaceuticals and health care policies on health care costs and clinical outcomes.

Morning Consult welcomes op-ed submissions on policy, politics and business strategy in our coverage areas. Updated submission guidelines can be foundhere.

Original post:
The Future of Manufacturing a Medicine in America - Morning Consult

Posted in Genetic medicine | Comments Off on The Future of Manufacturing a Medicine in America – Morning Consult

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

Posted: July 10, 2017 at 6:44 am

Precision medicine is hot and Konica Minolta wants a piece of the action. To that end, its Healthcare Americas arm is paying $1 billion to acquire Ambry Genetics.

Innovation Network Corporation of Japan (INCJ) is helping to fund the deal.Konica Minolta Healthcare Americas and INCJwill make an all-cash payment of $800 million. Ambry shareholders will get up to $200 million over the next two years.

Konica views the deal as a stepping stone marking its debut as a player in the space and plans to bring Ambrys products to Japan and then to Europe, according to a news release. Shoei Yamana, Konica Minolta CEO said in a news release that the deal marks the first in a series of initiatives to build Konicas precision medicine profile.

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, Yamana said. 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.

Ambrys diagnostic offerings span multiple fields, including neurology, oncology and womens health. As with most genomics services, the business will also be generating rich data as a byproduct of its sales. Konica may be able to tap into this information in myriad ways, from drug discovery to companion diagnostics and more. Its the foundations of todays precision medicine work.

Photo: maxsattana, Getty Images

See the original post:
Konica Minolta establishing itself as precision medicine player with $1B Ambry Genetics deal - MedCity News

Posted in Genetic medicine | Comments Off on Konica Minolta establishing itself as precision medicine player with $1B Ambry Genetics deal – MedCity News

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

Posted: July 10, 2017 at 6:44 am

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.

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

Posted in Genetic medicine | Comments Off on Big data analytics in healthcare: Fuelled by wearables and apps, medical research takes giant leap forward – Firstpost

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

Posted: July 10, 2017 at 6:44 am

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 ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Here is the original post:
Greater access to genetic testing needed for cancer diagnosis and treatment - Medical Xpress

Posted in Genetic medicine | Comments Off on Greater access to genetic testing needed for cancer diagnosis and treatment – Medical Xpress

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

Posted: July 10, 2017 at 6:44 am

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.

Read the original:
Perplexed by English medical professionals desire to prevent care - Spencer Daily Reporter

Posted in Genetic medicine | Comments Off on Perplexed by English medical professionals desire to prevent care – Spencer Daily Reporter

Mosaic (genetics) – Simple English Wikipedia, the free …

Posted: July 10, 2017 at 6:43 am

In genetics, a mosaic (or mosaicism) means the presence of two different genotypes in an individual which developed from a single fertilized egg. As a result, the individual has two or more genetically different cell lines derived from a single zygote.[1]

Mosaicism may result from:

The phenomenon was discovered by Curt Stern. In 1936, he demonstrated that recombination, normal in meiosis, can also take place in mitosis.[2] When it does, it results in somatic (body) mosaics. These are organisms which contain two or more genetically distinct types of tissue.[3]

A genetic chimera is an organism composed of two or more sets of genetically distinct cells. Dispermic chimeras happen when two fertilized eggs fuse together. Mosaics are a different kind of chimerism: they originate from a single fertilized egg.

This is easiest to see with eye colours. When eye colours vary between the two eyes, or within one or both eyes, the condition is called heterochromia iridis (= 'different coloured iris'). It can have many different causes, both genetic and accidental. For example, David Bowie had the appearance of different eye colours due to an injury that caused one pupil to be permanently dilated.

On this page, only genetic mosaicism is discussed.

The most common cause of mosaicism in mammalian females is X-inactivation. Females have two X chromosomes (and males have only one). The two X chromosomes in a female are rarely identical. They have the same genes, but at some loci (positions) they may have different alleles (versions of the same gene).

In the early embryo, each cell independently and randomly inactivates one copy of the X chromosome.[4] This inactivation lasts the lifetime of the cell, and all the descendants of the cell inactivate that same chromosome.

This phenomenon shows in the colouration of calico cats and tortoiseshell cats. These females are heterozygous for the X-linked colour genes: the genes for their coat colours are carried on the X chromosome. X-inactivation causes groups of cells to carry either one or the other X-chromosome in an active state.[5]

X-inactivation is reversed in the female germline, so that all egg cells contain an active X chromosome.

Mosaicism refers to differences in the genotype of various cell populations in the same individual, but X-inactivation is an epigenetic change, a switching off of genes on one chromosome. It is not a change in the genotype.[6] Descendent cells of the embryo carry the same X-inactivation as the original cells. This may give rise to mild symptoms in female 'carriers' of X-linked genetic disorders.[7]

Follow this link:
Mosaic (genetics) - Simple English Wikipedia, the free ...

Posted in Genetics | Comments Off on Mosaic (genetics) – Simple English Wikipedia, the free …

Memphis Researchers Planning Big Upgrades to Online Genetics Database – Memphis Daily News

Posted: July 10, 2017 at 6:43 am

VOL. 132 | NO. 135 | Monday, July 10, 2017

A pair of scientists in Memphis is using almost $2 million in grant money to make improvements to an online database and open-source software system called GeneNetwork, used by researchers to study genetic differences and evaluate disease risk.

Drs. Robert Williams and Saunak Sen, both part of the faculty at the University of Tennessee Health Science Center, won a grant from the National Institutes of Health for the project. GeneNetwork was launched in 2001 as part of a NIH Human Brain Project grant to UTHSC and was one of the first websites designed for gene mapping.

Williams, who chairs the Department of Genetics, Genomics and Informatics at UTHSC, said the grant money will be used to support major upgrades for the software infrastructure for gene mapping and analysis for the system. One of the systems main uses, he said, is being able to predict more accurate health outcomes from genetic and environmental data.

The system itself is like a combination of Microsofts popular Excel spreadsheet software paired with large amounts of financial data. Except in this case, its biological rather than financial data, combined with a sophisticated spreadsheet that allows users to perform their analyses.

Those users include undergraduate, graduate and postdoctoral students. The biggest slice of users is scientists, Williams said, who are interested in understanding the relationship between genetic differences and health status.

The grant has four major aims that will be stretched out over four years, Williams said. The first is to make this more useful to a larger community of users. Getting data in and out of GeneNetwork is quite a bit of work, so were going to be building some software that allows easier data entry into GeneNetwork.

The team at UTHSC which is where the GeneNetwork hub exists also wants to make some statistical improvements to the system. Theyll also be developing new analytical methods as well as tools so that the system is accessible not only to students and scientists but also professional statisticians, computer scientists and users at big pharmaceutical companies who Williams said need a different type of interface than what exists now.

The team supporting GeneNetwork actually extends beyond Memphis, spanning the globe, in fact. Other key members include Dr. Pjotr Prins, a computer programmer based in the Netherlands whos responsible for the software architecture. Dr. Karl Broman, a statistical geneticist from the University of Wisconsin-Madison, is also contributing to the project. And at UTHSC, Dr. Yan Cui, a computational biologist in the Department of Microbiology, Immunology and Biochemistry, is also working on the project.

According to Dr. Sen, GeneNetwork will facilitate reproducible research because of the way it gives researchers open access to both the data and the software code used to process it. Reproducibility, he said, is essential to the scientific method, and were proud to be part of the open science movement.

The second generation of the service, called GeneNetwork 2, can be accessed at http://gn2.genenetwork.org/.

There are exponentially growing databases on humans and mice and rats and plants, Williams said. And its really difficult to handle all those huge data sets. So what we need are online tools for analyzing and integrating those data sets, and GeneNetwork is a tool for doing just that.

It provides access to a lot of data sets and the genotypes of subjects, and it allows you to analyze what the relationship is between genetic differences and outcome measurements. Like, how much do you weigh, are you likely to have diabetes, how long will you live, things like that.

Originally posted here:
Memphis Researchers Planning Big Upgrades to Online Genetics Database - Memphis Daily News

Posted in Genetics | Comments Off on Memphis Researchers Planning Big Upgrades to Online Genetics Database – Memphis Daily News

Konica Minolta, With Eye on Health Care, Nears Deal for US Genetics Firm – New York Times

Posted: July 10, 2017 at 6:43 am

An announcement is expected on Thursday, and the companies hope to complete the transaction by the end of the year. Ambry Genetics declined to comment.

The Japanese government is helping to drive the diversification efforts. A state-backed investment fund, the Innovation Network Corporation of Japan, is teaming up with Konica Minolta in the Ambry acquisition. According to the people familiar with the deal, Konica Minolta would take a 60 percent share in Ambry, with the rest to be acquired by the fund.

Ambry, which is privately held, would retain its current leadership, these people said. The management team includes the company founder and chairman, Charles L. M. Dunlop, who has said his own experience with prostate cancer now in remission influenced his decision to make public anonymized information from Ambrys database.

Pooling data from many people is considered crucial to finding genetic elements that contribute to illnesses.

For Konica Minolta, the acquisition would confirm the acceleration of efforts to diversify beyond photocopiers and printers, areas where revenue and profit have been shrinking.

The Japanese company has identified health care, and cancer screening in particular, as a possible mainstay of business. It has been developing its own cancer-detecting technology using light-emitting nanoparticles to mark proteins that are drawn to cancer cells.

Other Japanese businesses have tried similar expansions. Fujifilm, for instance which, like Konica Minolta, built a name decades ago in photography has established a profitable health care and cosmetics division, helping it survive the end of the analog film era.

Other Japanese groups health care ventures have been less successful, however.

Follow Jonathan Soble on Twitter @jonathan_soble.

Chad Bray contributed reporting from London.

A version of this article appears in print on July 6, 2017, on Page B4 of the New York edition with the headline: Konica Minolta Nears Genetics Deal.

Read more from the original source:
Konica Minolta, With Eye on Health Care, Nears Deal for US Genetics Firm - New York Times

Posted in Genetics | Comments Off on Konica Minolta, With Eye on Health Care, Nears Deal for US Genetics Firm – New York Times

Page 1,513«..1020..1,5121,5131,5141,515..1,5201,530..»