Massive Genetic Study Maps US Migration History | IFLScience – IFLScience (blog)

DNA is a powerful tool to understand our history. Coded into its twisted molecules are insights into the migration of our species, where we came from, and how we came to be where we are today.

Humans may have a deep-seated fascination with their past, but untangling its history requires gobs of data and plenty of patience.

To investigate the fine-scale population structure in the United States, the researchers used one of the largest human genetic data sets assembled to date. The study is published in Nature Communications.

The team analyzed genotype data from over 777,000 individuals in order to paint a genetic portrait of how North Americas population migrated over the last few hundreds of years.

The huge population of participants were gained through DNA-testing company Ancestry, who have over 3 million customers in their AncestryDNA database. Each of these individuals has spit in a tube, shook it, and sent it to the lab for processing thats a lot of saliva.

With all this information, the researchers made a network of genetic connections and then used various analysis techniques to identify clusters of individuals. By using 20 million user-generated genealogical records, they next annotated these clusters to infer patterns of migration and settlement.

The use of genetics to track human migration history has been done before. However, this large-scale study focused on recent history, with a particular emphasis on specificity.

For example, the study can pinpoint a particularregion of France that French Canadians came from generations ago, where they subsequently settled in Canada, and then how they spread to North America.

The pink dots are the French-Canadians and the blue dots are Acadians. Nature Communications

Weve never had a map like this of North America, Eric Topol, a geneticist with Scripps who is not associated with the research, toldGizmodo. This is a massive data set.

The genetic landscape of post-colonial America has been shaped by many factors, including war, slavery, disease, and climate change. However, the researchers were surprised by one particularly large influence the Mason-Dixon line.

I have to admit I was surprised by that, lead author Catherine Ball, chief scientific officer at Ancestry, told Wired. This political boundary had the same effect as what youd expect from a huge desert or mountain range.

The Mason-Dixon line is a boundary line that was initially constructed to settle an 80-year land dispute between two colonies. It then became a symbolic divider of slave states from non-slave states during the Civil War.

Original post:

Massive Genetic Study Maps US Migration History | IFLScience - IFLScience (blog)

Irish Travellers split socially from settled people in 1600s – study – RTE.ie

Updated / Thursday, 9 Feb 2017 19:12

A study of Irish Traveller genetics has revealed for the first time that they split socially from the settled population here much earlier than thought.

The research by scientists from the Royal College of Surgeons in Ireland, University College Dublin, the University of Edinburgh and the Hebrew University of Jerusalem, discovered that the divergence began 360 years or approximately 12 generations ago.

It is thought that there are around30,000 people living here who are members of the Travelling community, representing 0.6% of the total population.

But a lack of documentary evidence on their history meant the origin of Irish Travellers was not clear, and the subject of debate.

Previously it had been thought that Travellers had become displaced between 1845 and 1852 as a result of the Great Famine.

The study also found that genetically Travellers are closely connected to Irish settled people, scotching theories that they descended from other population groups including European Roma gypsies.

The researchers found that any genetic disparities between Travellers and settled people here are largely due to them remaining genetically isolated for several centuries and their numbers decreasing.

In fact this social isolation has led to a few marked differences in the genomes of Irish Travellers when compared to the settled community.

"The findings confirm that the Irish Traveller population has an Irish ancestry and this comes at a time where the ethnicity of Travellers is being considered by the Irish State," said Professor Gianpiero Cavalleri, Associate Professor in Human Genetics at RCSI's Department of Molecular and Cellular Therapeutics in a statement.

"It is important to emphasise that although Irish Travellers show clear features of a genetic isolate, they are genetically very close to settled people in Ireland."

"It is also interesting to observe that the isolation of Travellers from settled people predates the Great Famine.

"However it's important to emphasise that our research estimates the beginning of the social divergence of the Travelling community, rather than their origin."

DNA samples from 42 Irish Travellers were compared with that of 143 European Roma, 2,232 settled Irish, 2,039 British, 5,964 European and 931 individuals from the rest of the world for the study.

Several genetic dating methods were also used to estimate the period when the travelling community began to split genetically from the settled population in Ireland.

The research also established the degree to which marrying someone to which you are genetically related, a practice common among the Traveller community, can impact on the genetic blueprint, leading to an increased prevalence of certain disease including galactosaemia.

Subtle genetic differences were also found between speakers of the Cant and Gammon dialects of the Traveller language.

The findings, published in the Nature journal Scientific Reports, come three months after the Taoiseach committed to begin the process to have a distinct Traveller ethnicity officially recognised.

The study has been welcomed by Traveller groups, including Pavee Point, which said it confirmed what many had thought for some time about Traveller ethnicity pre-dating the famine.

US scientists develop 'Bat Bot'

Read the original here:

Irish Travellers split socially from settled people in 1600s - study - RTE.ie

The Tragic Story Of Soviet Genetics Shows The Folly Of Political Meddling In Science – IFLScience (blog)

A few years ago, one of us (Ian) was lucky enough to be invited to visit the N.I. Vavilov Institute of Plant Industry in St Petersburg, Russia. Every plant breeder or geneticist knows of Nikolai Vavilov and his ceaseless energy in collecting important food crop varieties from all over the globe, and his application of genetics to plant improvement.

Nikolai Vavilov was pilloried because he wasnt a political favourite in Soviet Russia. Library of Congress. New York World-Telegram & Sun Collection

Vavilov championed the idea that there were Centres of Origin (or Diversity) for all plant species, and that the greatest variation was to be found in the place where the species evolved: wheat from the Middle East; coffee from Ethiopia; maize from Central America, and so on.

Hence the Centres of Origin (commonly known as the Vavilov Centres) are where you should start looking to find genotypes the set of genes responsible for a particular trait with disease resistance, stress tolerance or any other trait you are looking for. This notion applies to any species, which is why you can find more human genetic variation in some African countries than in the rest of the world combined.

By the late 1920s, as director of the Lenin All-Union Academy of Agricultural Sciences, Vavilov soon amassed the largest seed collection on the planet. He worked hard, he enjoyed himself, and drove other eager young scientists to work just as hard to make more food for the people of the Soviet Union.

However, things did not go well for Vavilov politically. How did this visionary geneticist, who aimed to find the means for food security, end up starving to death in a Soviet gulag in 1943?

Heroic science?

Enter the villain, Trofim Lysenko, ironically a protg of Vavilovs. The notorious Vavilov-Lysenko antagonism became one of the saddest textbook examples of a futile effort to resolve scientific debate using a political approach.

Lysenkos theories went against the latest science, but prevailed due to politics. Wikimedia

Lysenkos name leapt from the pages of history and into the news when Australias Chief Scientist, Alan Finkel, mentioned him during a speech at a meeting of chief scientists in Canberra this week.

See more here:

The Tragic Story Of Soviet Genetics Shows The Folly Of Political Meddling In Science - IFLScience (blog)

Valuation Dashboard: Healthcare – Update – Seeking Alpha

This article series provides a monthly dashboard of industries in each sector of the GICS classification. It compares valuation and quality factors relative to their historical averages in each industry, and gives a list of 10 stocks. I update every month 8 lists like this one covering all sectors (some sectors are grouped). The 8 lists together have returned about 25% in 2016. If you want to stay informed of updates, click "Follow" at the top of this page. My Marketplace Subscribers have an early access to the stock lists before they are published in free-access articles.

Executive summary

Biotechnology looks cheap relative to its own historical averages in valuation factors. Life Sciences Tools/Services and Managed Healthcare look slightly overpriced and above the historical average in profitability (measured by ROE). Other groups are less appealing. The Pharmaceutical industry is close to the baseline in P/E and undervalued for P/FCF, but much worse regarding P/S and ROE. The worst group here and the only healthcare industry with all factors worse than their historical averages is Healthcare Equipment.

Since last month:

Some cheap stocks in their industries

The stocks listed below are in the S&P 1500 index, cheaper than their respective industry factor for Price/Earnings, Price/Sales and Price/Free Cash Flow. The companies with the highest Return on Equity are kept in the final selection.

This strategy rebalanced monthly has an annualized return about 22.34% for a 17-year backtest. The sector ETF XLV has an annualized return of only 7.73% on the same period. Past performance is not a guarantee of future result. This is not investment advice. Do your own research before buying.

ABBV

AbbVie Inc

BIOTECH

ABC

AmerisourceBergen Corp

HCAREPROVID

AMGN

Amgen Inc

BIOTECH

BIIB

Biogen Inc

BIOTECH

CAH

Cardinal Health Inc

HCAREPROVID

GILD

Gilead Sciences Inc

BIOTECH

MCK

McKesson Corp

HCAREPROVID

PRXL

PAREXEL International Corp

MEDEQUIP

UTHR

United Therapeutics Corp

BIOTECH

Detail of Valuation and Quality indicators in Healthcare on 2/8/2017

I take 4 aggregate industry factors provided by portfolio123: Price/Earnings (P/E), Price to sales (P/S), Price to free cash flow (P/FCF), Return on Equity (ROE). My choice has been justified here and here. Their calculation aims at limiting the influence of outliers and large caps. They are reference values for stock picking, not for capital-weighted indices.

For each factor I calculate the difference with its own historical average: to the average for valuation ratios, from the average for ROE, so that the higher is always the better. The difference is measured in percentage for valuation ratios, not for ROE (already in percentage).

The next table reports the 4 industry factors. There are 3 columns for each factor: the current value, the average ("Avg") between January 1999 and October 2015 taken as an arbitrary reference of fair valuation, and the difference explained above ("D-xxx").

P/E

Avg

D- P/E

P/S

Avg

D- P/S

P/FCF

Avg

D- P/FCF

ROE

Avg

D-ROE

Health Care Equipment

43.01

27.18

-58.24%

4.01

3.18

-26.10%

38.66

30.51

-26.71%

-33.87

-12.14

-21.73

Managed Health Care

22.95

20.88

-9.91%

1.04

0.85

-22.35%

18.26

17.75

-2.87%

8.28

5.78

2.5

Health Care Technology*

83.28

56.13

-48.37%

3.06

3.39

9.73%

35.12

35.77

1.82%

-14.56

-6.2

-8.36

Biotechnology

27.8

39.78

30.12%

31.94

29.01

-10.10%

36.09

43.74

17.49%

-68.17

Read the original here:

Valuation Dashboard: Healthcare - Update - Seeking Alpha

Minnesota’s Obamacare enrollment jumps more than 34 percent, as state-run markets blow by Trump-hobbled … – CNBC

Obamacare sign-ups on Minnesota's insurance marketplace sharply spiked upward this year, providing more evidence for the claim that the Trump administration actions caused lower enrollment on the federal health exchange.

MNSure, the state-run health exchange for Minnesota, on Thursday reported that 114,810 people signed up for private individual insurance plans sold on that marketplace by the close of enrollment this week.

That tally is more than 34 percent higher than the 85,690 enrollments seen on the exchange last year.

"We are enrolling people at historically high levels," said MNsure CEO Allison O'Toole. "When more Minnesotans are covered, our state is healthier and our economy is stronger."

Minnesota's tally was helped, at least partially, by a one-week extension in the enrollment deadline the exchange granted. That extension was offered in light of the passage of a state law in late January that gave more than 125,000 residents an automatic 25 percent reduction in their insurance plan premiums if they faced significant premium hikes this year.

But even before that extension, MNSure was seeing dramatic growth in sign-ups for 2017 plans.

Sign-ups on the 12 Obamacare insurance exchanges run by states and the District of Columbia now have, as a group, handily beat the performance of the federal exchange HealthCare.gov, which serves residents of 39 states. Seven of the 12 state-based markets reported increases in enrollment compared to last year.

Enrollment on the state exchanges, which now stands at above 3 million, is up about 2.4 percent over last year's tally, according to the leading Obamacare tracking site ACASigups.net. The final tally from Vermont, which has yet to report its results, would add to that, albeit very slightly.

In contrast, the 9.2 million sign-ups on HealthCare.gov reported last week means the federal exchange has seen a more than 5 percent drop in enrollment. That drop takes into account the fact that Kentucky residents began being served there this year.

Because of the drop on HealthCare.gov, national Obamacare enrollment for 2017 health plans is on track to be about 500,000 people lower than were seen at the close of enrollment nationally last year.

Obamacare supporters have blamed the drop in enrollment on HealthCare.gov on a decision by the Trump administration in the final days of open enrollment to cancel advertising and outreach efforts for the exchange.

Those efforts had previously been scheduled by the outgoing Obama administration, which, unlike the Trump team, supported the Affordable Care Act.

The Trump administration rescinded its decision, albeit partially, by allowing tweets and email reminders related to HealthCare.gov to go out.

But Obamacare supporters also have said that lower HealthCare.gov sign-ups could reflect perceptions about an executive order President Donald Trump signed on Jan. 20, his first day in office, that authorized federal officials to scale back "economic and regulatory burdens" from the ACA.

That order was seen as potentially authorizing a suspension of the Obamacare requirement that most Americans have some form of health coverage or pay a tax penalty. No such suspension has happened, however.

The more than 7 percent performance gap between HealthCare.gov's performance this year and that of the state-based marketplaces, suggest that the ad and outreach pullback, as well as possibly Trump's order, had a decisive effect. Unlike HealthCare.gov, the state-run exchanges continued their advertising and outreach through the end of open enrollment.

See the original post:

Minnesota's Obamacare enrollment jumps more than 34 percent, as state-run markets blow by Trump-hobbled ... - CNBC

Obamacare Brought Jobs To Indian Country That Could Vanish With Repeal – NPR

Since its founding in the 1950s, the Indian Health Service has provided medical care for many Native Americans. But the service has been chronically underfunded, so often pays for care only if someone is in immediate danger of losing life or limb. In recent years, the Affordable Care Act created new health coverage opportunities for more than half a million Native Americans and Alaska Natives and created jobs in Indian country, too.

The Blackfeet Community Hospital in Browning, Mont., is one example of this trend. It's the only hospital on the Blackfeet reservation, and traditionally got most of its funds from the Indian Health Service. Then, last year, Montana expanded Medicaid. That program, jointly funded by the federal and state governments to cover the health needs of people with low incomes, now covers about one in seven people who live on the Blackfeet reservation. And still more reservation residents have bought subsidized health insurance on the exchange.

So Blackfeet Community Hospital now needs an infrastructure to deal with the paperwork that comes with accepting Medicaid or private insurance. The hospital has hired new administrators, including Blackfeet tribal member Gerald Murray.

"Whatever's not paid, I go through and make sure it's all paid," Murray says.

He got his job in April a month before he'd even graduated. The tribe's community college started a new curriculum after the federal health law passed, to help meet the growing demand for employees in Indian country who can process insurance claims.

Murray is part of Obamacare's transformative power for Native American communities, says Montana's director of American Indian Health, Mary Lynn Billy-Old Coyote.

"To me, there's opportunity there to not only build healthcare," she says, "but to build your entire community and build jobs."

Unemployment on most of Montana's Indian reservations is at least double that of the rest of the state. And people who are working don't always get health insurance with their jobs, explains Billy-Old Coyote. So the subsidies that helped tribal members buy insurance under the Affordable Care Act have been a big deal for residents who are used to being turned away when they ask the Indian Health Service to pay for medical care. Most Montanans, Native or not, can now get health insurance policies for about $75 a month.

Mary Lynne Bill-Old Coyote, Montana's director of Indian health, says the ACA has helped build the community by providing job opportunities. Montana saw 3 percent growth last year in the number of health care jobs. Courtesy of Thom Bridge/Helena Independent Record hide caption

Mary Lynne Bill-Old Coyote, Montana's director of Indian health, says the ACA has helped build the community by providing job opportunities. Montana saw 3 percent growth last year in the number of health care jobs.

"Now you've got an opportunity for American Indian people to truly have access to private insurance," Billy-Old Coyote says. "You have access to greater networks of providers and specialists, and all the things we generally don't see."

Medicaid expansion had a lot to do with the 3 percent growth Montana saw last year in the number of health care jobs in the state, she says. And Montana schools, including tribal colleges, are offering more classes in health care fields.

At Blackfeet Community College, 23-year-old Leroy Bearmedicine, is working toward certification as an emergency medical technician.

"I'd like to become a registered nurse at some point," he says. "Maybe even work my way up to flight nurse something to get the adrenaline going,"

Native American leaders have seen the Affordable Care Act as a means of remedying a series of broken promises from the federal government. But the hope Obamacare brought to Indian country is now fading, too, they say. One estimate suggests Montana will lose 3,000 health care jobs if the federal health law is repealed.

This story is part of NPR's partnership with Montana Public Radio and Kaiser Health News.

Read the rest here:

Obamacare Brought Jobs To Indian Country That Could Vanish With Repeal - NPR

Best And Worst Q1’17: Health Care ETFs And Mutual Funds – Seeking Alpha

The Health Care sector ranks sixth out of the ten sectors as detailed in our Q1'17 Sector Ratings for ETFs and Mutual Funds report. Last quarter, the Health Care sector ranked seventh. It gets our Neutral rating, which is based on an aggregation of ratings of 22 ETFs and 74 mutual funds in the Health Care sector. See a recap of our Q4'16 Sector Ratings here.

Figures 1 and 2 show the five best and worst rated ETFs and mutual funds in the sector. Not all Health Care sector ETFs and mutual funds are created the same. The number of holdings varies widely (from 21 to 364). This variation creates drastically different investment implications and, therefore, ratings.

Investors seeking exposure to the Health Care sector should buy one of the Attractive-or-better rated ETFs or mutual funds from Figures 1 and 2.

Here is our ETF and mutual fund rating methodology, which leverages our rigorous analysis of each fund's holdings. We think advisors and investors focused on prudent investment decisions should include analysis of fund holdings in their research process for ETFs and mutual funds.

Figure 1: ETFs with the Best & Worst Ratings - Top 5

* Best ETFs exclude ETFs with TNAs less than $100 million for inadequate liquidity.

Sources: New Constructs, LLC and company filings

Figure 2: Mutual Funds with the Best & Worst Ratings - Top 5

* Best mutual funds exclude funds with TNAs less than $100 million for inadequate liquidity.

Sources: New Constructs, LLC and company filings

Four mutual funds are excluded from Figure 2 because their total net assets (TNA) are below $100 million and do not meet our liquidity minimums.

The Vanguard Health Care Index Fund (NYSEARCA:VHT) is the top-rated Health Care ETF and the Putnam Global Health Care Fund (MUTF:PCHSX) is the top-rated Health Care mutual fund. Both earn an Attractive rating.

The State Street SPDR Series Trust (NYSEARCA:XBI) is the worst rated Health Care ETF and the Invesco Global Health Care Fund (MUTF:GGHCX) is the worst rated Health Care mutual fund. Both earn a Very Dangerous rating.

336 stocks of the 3000+ we cover are classified as Health Care stocks, but due to style drift, Health Care ETFs and mutual funds hold 364 stocks.

The Danger Within

Buying a fund without analyzing its holdings is like buying a stock without analyzing its business and finances. Put another way, research on fund holdings is necessary due diligence because a fund's performance is only as good as its holdings' performance. Don't just take our word for it, see what Barron's says on this matter.

PERFORMANCE OF HOLDINGs = PERFORMANCE OF FUND

Figures 3 and 4 show the rating landscape of all Health Care ETFs and mutual funds.

Figure 3: Separating the Best ETFs From the Worst ETFs

Sources: New Constructs, LLC and company filings

Figure 4: Separating the Best Mutual Funds From the Worst Mutual Funds

Sources: New Constructs, LLC and company filings

This article originally published here on January 23, 2017.

Disclosure: David Trainer, Kyle Guske and Kyle Martone receive no compensation to write about any specific stock, sector or theme.

Disclosure: I/we have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours.

I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it. I have no business relationship with any company whose stock is mentioned in this article.

See the original post here:

Best And Worst Q1'17: Health Care ETFs And Mutual Funds - Seeking Alpha

SAS Institute to debut analytics platform for healthcare at HIMSS17 – Healthcare IT News

SAS Institute plans to bring its Viya analytics to the HIMSS healthcare constituency.The company first announced its Viya cloud-based analytics service last year and is now offering a suite of analytic tools geared specifically for healthcare.

With new ways to embed analytics into software development, interfaces to analytics insights and new methods for bigger and more varied data, health providers and care managers can be confident that data-driven decisions are available and accurate and helping them drive the best outcomes, said Mark Lambrecht, a principal industry consultant within SAS Health and Life Sciences Global Practice.

The underlying integrated code base, accessed visually or programmatically from a variety of coding languages and REST (Representational State Transfer) APIs should assure that the Viya platform is adaptive to various data sources and, at the same time, centralization assures compliance with IT governing policies and security.

Lambrech said that as healthcare continues its steady march toward self-service and remotely monitored events, what is required from the next generation of technology is ever faster access to more and prioritized information while providers are being asked to do more with less.

Efficiency is driving toward automating processing, like prioritized alerts from events of interest from patient monitors. Everything from IoT-based automated actions and situational monitoring and alerts to natural language question and answer systems, digital assistants and other cognitive computing and AI-based analytics capabilities are being considered to drive better and well-managed care, said Lambrecht.

Viya Products have begun to be released, with more being introduced on the new platform throughout 2017 and beyond.

The end goal is to be able to embed analytics so that they are ambient, driving the right answer at the right time for the right outcome, Lambrecht noted.

SAS Viya is compatible with both the backend and front end for SAS Health and Life Sciences (HLS) users.Those with existing SAS solutions will be able to take advantage of new analytical methods in SAS Viya and bridge those with their existing SAS 9 solution, embedding those new insights into deployable actions. SAS Viya also recognizes images as a data type, givingHLS users the ability to extend their unstructured text analysis to this new source of input.

SAS Viya runs on existing hardware or in a public or private cloud. Current user assets will run with SAS Viya. In addition, using bridge technology SAS ensures customers that data and deployable results can be exchanged between both its current SAS 9 and SAS Viya.

SAS Institute will be in Booth 3731.

HIMSS17runs from Feb. 19-23, 2017 at the Orange County Convention Center.

This article is part of our ongoing coverage of HIMSS17. VisitDestination HIMSS17for previews, reporting live from the show floor and after the conference.

Like Healthcare IT News onFacebookandLinkedIn

Read the original here:

SAS Institute to debut analytics platform for healthcare at HIMSS17 - Healthcare IT News

Survey: 21 percent of Americans have used virtual healthcare, 78 percent are interested – MobiHealthNews

The gulf between how many Americans say, in a survey, that they would like to use digital health services and how many actually have is still quite large, according to a new survey from Accenture. The consulting firm reached out to 1,501 US consumers and found that, while 78 percent were interested in receiving care virtually, only 21 percent had actually done so.

Accenture defines virtual care as encompassing telemedicine, biometric tracking, and the use of apps for reminders and health management. Seventy-seven percent of respondents said they would like to to track health indicators such as blood pressure, pulse and glucose levels with technology, 76 percent wanted to use telemedicine for follow-up appointments, and 70 percent wanted to be remotely examined for non-urgent health concerns.

Consumers are clear: In the 21st century, 20th century healthcare is not good enough, Frances Dare, managing director of Accentures virtual health services, said in a statement. Technology-enabled services will be equally important as traditional in-person services, allowing the modern patient to choose when and how they receive health and care services.

Asked why they turn to virtual care, 37 percent attributed it to convenience, while 34 percent said curiosity and 34 percent said it was because they were already familiar with the use of technology.

Backing up previous studies that have shown the impact of physician recommendations, 44 percent of respondents said they would be more likely to try virtual care if their physician recommended it. Only 31 percent said the same thing about their health insurer.

Given evolving consumer attitudes toward virtual care, making virtual health a priority could be a boon for provider organizations that are resource- and finance-constrained, Dare added.As more and more patients take control of their own healthcare in the age of consumerism, provider organizations must be able to offer meaningful choices for virtual care, in-person care and a combination of both.

Its hard to meaningfully compare different surveys that used slightly different definitions of digital health, telehealth, or virtual care, but the 21 percent adoption number is high compared to a study of physicians last year, which found that 15 percent had used telehealth, or a 2015 Healthline survey that found just 9 percent of consumers had used telehealth.

Read more here:

Survey: 21 percent of Americans have used virtual healthcare, 78 percent are interested - MobiHealthNews

HIMSS: Health IT to continue playing significant role in reforming US healthcare system – Healthcare IT News

Given the attention that repeal and replace of the Affordable Care Act (ACA) received in the 2016 campaign, it is no surprise that President Donald J. Trumps administration and Republican leaders are focusing their early healthcare agenda on this issue. HIMSS anticipates that the debate around the repeal and replace process as well as the specifics particular to implementing any new law will consume a significant amount of time in 2017.

In terms of HIMSS public policy in 2017, we intend to leverage a strategic framework that focuses on four foundational areas where the value of health IT can be demonstrated, including: supporting healthcare transformation; expanding access to high quality care; increasing economic opportunity; and, making communities healthier.

We are emphasizing to the new Administration and Congress that health IT is a core foundational piece in reforming our healthcare system and that health IT tools are critical for improving patient safety and outcomes, increasing access and greater success in value-based care delivery, quality reporting initiatives, as well as in opportunities to test innovative care models.

As work continues to reform our healthcare system and provide broad coverage and access to care, we are prioritizing several issues with the new Administration including:

Ensuring a robust Office of the National Coordinator for Health IT

We want to ensure that ONC is able to continue to lead and coordinate efforts at the federal and state levels and that the agency has a strong leader who has health IT experience as well as a dynamism that can propel as well as compel our community forward.

Continue accelerating the shift to value-based care

As such efforts continue, we want to ensure that the push for value-based care recognizes that technology and evidence-based care are key to helping our nation to transition from a fee-for-service system to a value-based care system.

Expanding economic opportunities and job creation from Health IT

Health IT drives economic growth and creates jobs. As such, we want to work to create educational and economic opportunities to expand our robust workforce by prioritizing science, technology, engineering, and mathematics (STEM) initiatives that provide links to health-related programs.In addition, we want to maximize opportunities to support US companies and health systems interested in exporting their advanced health IT solutions, products, and processes.

Spurring further Progress on interoperability and exchanging health information

HIMSS is urging the Trump Administration to support widespread adoption and implementation of standards-based interoperable health IT systems as a key tool in achieving seamless, effective and secure health information exchange practices across the United States.

We are also advocating on several other fronts, such as on precision medicine, cybersecurity, telehealth, and patient data matching. We want to continue to foster a culture where health IT is optimally harnessed to transform health and healthcare by improving quality of care, enhancing the patient experience, containing cost, improving access to care, and optimizing the effectiveness of public payment.

2017 is going to be a very active advocacy year and we need the help of our entire community to ensure health IT remains a core foundational piece in reforming our healthcare system.

Please feel free to reach out to me atjcoughlin@himss.orgif you would like to get involved.

Jeffrey Coughlin is Senior Director of Federal and State Affairs at HIMSS.

HIMSS17runs from Feb. 19-23, 2017 at the Orange County Convention Center.

This article is part of our ongoing coverage of HIMSS17. VisitDestination HIMSS17for previews, reporting live from the show floor and after the conference.

Like Healthcare IT News onFacebookandLinkedIn

More:

HIMSS: Health IT to continue playing significant role in reforming US healthcare system - Healthcare IT News

With MSK Leading the Way, Precision Medicine Links Lab Research to Patient Care – Memorial Sloan Kettering Cancer Center (blog)

Hear from our experts about MSK's groundbreaking approach to precision oncology and how it is changing the way we treat cancer.

Summary

Three leaders in precision oncology at MSK have released a State of the Union-stylereport on where the field is going. Learn how were already helping people with cancer, and how were uniquely prepared to address the many challenges that still remain in the field.

Highlights

Precision oncology also known as genome-based oncology or personalized cancer medicine is based on the idea that once we understand the genetic alterations that drive cancer cells to grow and spread, we can develop drugs to target them. Memorial Sloan Kettering has been a leader in the field by bringing together lab researchers and clinicians to focus on developing innovative ways to improve care for patients.

The concept seemed wildly futuristic as recently as two decades ago. Now, tens of thousands of people with cancer every year are benefiting from treatment with targeted therapies, which provide more-effective control of tumors while avoiding many harmful side effects common to more-traditional cancer treatments.

Using precision oncology in cancer patients is an attractive strategy, says Barry Taylor, Associate Director of MSKs Marie-Jose and Henry R. Kravis Center for Molecular Oncology (CMO). But its difficult, and there are great challenges. Were really only at the end of the beginning in this process.

More and more stories are coming out of these trials about patients whose cancer has been eliminated by some of these new drugs.

Jos Baselga MSK Physician-in-Chief

These challenges are twofold: Theyre scientific, as the genetic complexities of cancer are not completely understood; and societal, as currently only a small percentage of cancer patients have access to genetic testing and clinical trials.

Dr. Taylor along with MSKs Physician-in-Chief Jos Baselga and Director of Developmental Therapeutics David Hyman this week published an article in the journal Cell highlighting some of the many accomplishments in the field of precision oncology to date and acknowledging the barriers still to be overcome.

This report is like a State of the Union for genome-based oncology, Dr. Baselga explains. Its an in-depth description of where the field is today and where its going. MSK has been engaged in precision medicine for longer than most institutions, and were probably leading more clinical trials in this area than any other center.

The CMO, which was established in 2014 and is just one reason that MSK is at the forefront in this field, aims to identify the functional significance of genetic alterations in tumors so that people with cancer can receive the most individualized treatments. MSKs Human Oncology and Pathogenesis Program (HOPP), established eight years prior, brings together basic and clinical research, with the goal of bringing what happens in the lab into the clinic.

MSKs researchers have also created a genetic sequencing test called MSK-IMPACT, which looks for mutations in more than 400 genes that are known to play a role in cancer. This test is currently offered to all patients with advanced cancers, and the findings from it can help shepherd patients into clinical trials for drugs that are based on the unique characteristics of their tumors. MSK currently has about 30 clinical trials under way that assign patients to targeted therapy based on the results from MSK-IMPACT.

Despite the value in identifying which mutations are responsible for a cancers growth and spread an aspect of precision medicine that MSK and many other institutions are getting better and better at doing this is only part of the battle. Just because we know what causes a tumor to grow doesnt mean drugs are available to fix the problem.

Even for mutations that have effective drugs available, challenges remain. For one thing, tumor cells often evolve and develop resistance to the drugs that once worked against them, much like bacteria develop resistance to antibiotics. More research is needed to determine how this process occurs, and how new drugs can be developed to combat it.

Another aspect of tumor biology that makes precision medicine difficult to carry out is what is called tumor heterogeneity. This means that not all areas of a tumor have the same mutations; therefore drugs that are very effective at destroying one part of a tumor may have no effect on another part, which greatly reduces the chances that it can be completely eliminated.

Precision medicine is changing the way that many clinical trials are conducted.

MSK is already set up to address these challenges through the integration of our scientific and clinical missions, Dr. Taylor says. We have an enormous multidisciplinary team and an institutional commitment to building the infrastructure thats needed to move this work forward. Weve already removed many of the barriers to moving new treatments into clinical trials and collecting as much data as we can on those patients so that others can benefit in the future.

Because of the high volume of patients that MSK treats, both those with common cancers and those with rare ones, were able to identify large populations of patients with specific mutations very rapidly, Dr. Taylor says. This is the first step in designing these kinds of studies in which you are targeting a particular mutation with a particular therapy.

One aspect of precision medicine that MSK has been focused on is improving access to clinical trials. Weve opened up studies to patients at our MSK Cancer Alliance partners, and weve expanded our genetic sequencing out to those centers, Dr. Hyman says. This program is just starting, but the number is increasing.

If an MSK Cancer Alliance site does its own genetic testing, we will open our studies to them so that they can enroll their patients, he adds. If they dont do their own testing, we can analyze patients samples for them.

We've already removed many of the barriers to moving new treatments into clinical trials.

Barry S. Taylor Associate Director, CMO

Another area in which MSK has been at the forefront is expanding precision medicine trials to pediatric patients.

Pediatrics is an underserved patient population as far as trials, but weve been aggressive about lowering the age of eligibility so that younger patients can benefit from these new drugs sooner, Dr. Hyman says. In the past there have been ethical and safety concerns about conducting trials in children, but we think the best way to protect children is to give them access to the same drugs that our adult patients have.

He notes that for drugs that dont have available trials, pediatric patients may be able to get access to them through compassionate-use or expanded-access programs.

A patient describes her successful treatment as a result of participating in an MSK basket trial.

Overall, the way clinical trials are being conducted is changing. The traditional three-phase structure is less important in an era in which a drugs activity and effectiveness can be determined right from the beginning. Some drugs are going right from phase I or phase II to approval, Dr. Hyman says.

Drug development is not going to be easy, Dr. Baselga says. Its not going to be one-size-fits-all. Its going to be one gene at a time and one disease at a time. But more and more stories are coming out of these trials about patients whose cancer has been eliminated by some of these new drugs.

Another area that MSK is also focused on is the analysis of mutations in the DNA code. We need to go beyond genes and look at things on the epigenetic level, Dr. Baselga says. (Epigenetic changes affect which genes are activated to make proteins, without changing the genes themselves.) Investigators are developing new ways to analyze proteins in tumors to look for these kinds of changes.

MSK researchers are also looking at new ways to obtain genetic material to study. One of these methods involves isolating cell-free tumor DNA, which is found in patients blood. This technology, sometimes called liquid biopsy, would enable doctors to monitor patients disease by analyzing their blood, rather than repeatedly having to conduct biopsies. Its expected to provide new insight into how patients respond to targeted therapies, and how resistance develops.

One of the biggest challenges facing precision oncology and the cancer community is the sheer volume of data. Many efforts are now focusing on ways to aggregate findings from genetic studies and pooling the insights gained from clinical trials. One of these is AACR Project GENIE, a multicenter effort being coordinated by the American Association for Cancer Research, to which MSK has been the principal contributor.

Experts say that better data sharing will improve clinical decision-making and provide new information for diagnosis and treatment. Large compilations of data not only serve as a tool for cancer researchers around the world but also help to inform treatment decisions in community oncology centers.

MSK has been an early adopter of many of the approaches to analyzing these kinds of data, and an important part of data-sharing initiatives, Dr. Taylor says. I firmly believe that these technologies should be democratized to all patients, and sharing our data and analysis is an important part of that.

See original here:

With MSK Leading the Way, Precision Medicine Links Lab Research to Patient Care - Memorial Sloan Kettering Cancer Center (blog)

China Turns to Precision Medicine in Fight Against Cancer … – Bloomberg

When Nisa Leung was pregnant with her first child in 2012, her doctor in Hong Kong offered her a choice. She could take a prenatal test that would require inserting a needle into her uterus, or pay $130 more for an exam that would draw a little blood from her arm.

Leung opted for the simpler and less risky test, which analyzed bits of the babys DNA that had made its way into her bloodstream. Then, Leung went on to do what she often does when she recognizes a good product: look around for companies to invest in.

The managing partner at Qiming Venture Partners decided to put money into Chinese genetic testing firm Berry Genomics, which eventually entered into a partnership with the Hong Kong-based inventor of the blood test. Over the next few months, Berry is expected to be absorbed into a Chinese developer in a 4.3 billion yuan ($625 million) reverse merger. And Leungs venture capital firm would be the latest to benefit from a boom in so-called precision medicine, an emerging field that includes everything from genetic prenatal tests to customizing treatments for cancer patients.

Source: Qiming Venture Partners

China has made the precision medicine field a focus of its 13th five-year plan, and its companies have been embarking on ambitious efforts to collect a vast trove of genetic and health data, researching how to identify cancer markers in blood, and launching consumer technologies that aim to tap potentially life-saving information. The push offers insight into Chinas growing ambitions in science and biotechnology, areas where it has traditionally lagged developed nations like the U.S.

Investing in precision medicine is definitely the trend, said Leung,whos led investments in more than 60 Chinese health-care companies in the past decade. As China eyes becoming a biotechnology powerhouse globally, this is an area we will venture into for sure and hopefully be at the forefront globally.

New Chinese firms like iCarbonX and WuXi NextCode that offer consumers ways to learn more about their bodies through clues from their genetic make up are gaining popularity. Chinese entrepreneurs and scientists are also aiming to dominate the market for complex new procedures like liquid biopsy tests, which would allow for cancer testing through key indicators in the blood.

iCarbonX founder Wang Jun.

Photographer: Calvin Sit/Bloomberg

Such research efforts are still in early stages worldwide. But doctors see a future beyond basic commercial applications, aiming instead for drugs and treatment plans tailored to a persons unique genetic code and environmental exposure, such as diet and infections.

Isaac Kohane, a bioinformatics professor at Harvard University, says when it comes to precision medicine, the science community has Google maps envy. Just as the search engine has transformed the notion of geography by adding restaurants, weather and other locators,more details on patients can give doctors a better picture on how to treat diseases.

For cancer patients, for example, precision medicine might allow oncologists to spot specific mutations in a tumor. For many people with rare ailments like muscle diseases or those that cause seizures, it allows for earlier diagnosis. Pregnant women, using the kind of tests that Leung used, could also learn more about the potential for a child to inherit a genetic disease.

The global interest in the field comes as the cost of sequencing DNA, or analyzing genetic information, is falling sharply. But a number of hurdles remain. Relying on just genes isnt enough, and there must also be background information on a patients lifestyle and medication history.

Precision medicine applications also require heavy investment to store large amounts of information. A whole genome is over 100 gigabytes, according toan e-mailed response to questions from Edward Farmer, WuXi NextCodes vice-president of communications and new ventures. So you can imagine that analyzing thousands or hundreds of thousands of genomes is a true big data challenge."

WuXi NextCode was formed after Shanghai-based contract research giant WuXi AppTec Inc. acquired genomic analysis firm NextCode Health, a spin-off from Reykjavik, Iceland-based Decode Genetics, which has databases on the islands population. Wuxi NextCode continues to have an office in Iceland, where the population is relatively homogenous and therefore good for gene discovery.

Source: WuXi NextCODE

"Genomics today is like the computer industry in the 70s," said Hannes Smarason, WuXi NextCodes co-founder and chief operating officer. "Weve made great progress but theres still a long way to go.

In China, Wuxi NextCode now offers consumers genetic tests that cost between about 2,500 yuan and 8,000 yuan, providing more details on rare conditions a child might be suffering from or even the risk of passing on an inherited disease.

China is diverse and with 1.4 billion people, the planets most populous nation. WuXi NextCode announced a partnership with Huawei Technologies Co.,Chinas largest telecommunications equipment maker, in May to enable different institutions and researchers to store their data.

The goal is to use that deep pool of information -- which ranges from genome sequences to treatment regimens -- to find more clues on tackling diseases. WuXi says that this will in many instances enable the largest studies ever undertaken in many diseases.

The most important market news of the day.

Get our markets daily newsletter.

The global precision medicine market was estimated to be worth $56 billion in revenue at the end of 2016,with China holding about 4 to 8 percent of the global market, according to a December report from Persistence Market Research.

Encouraging interventions for some patients too early, even before they have life-threatening diseases, comes with risks and ethical questions, Laura Nelson Carney,an analyst at Sanford C Bernstein, wrote in a Jan. 6 note. Still, precision medicine research has many benefits, and some in China see the countrys push as a significant opportunity "to scientifically leapfrog the West, she said.

In the U.S., universities, the National Institutes of Health and American drugmakers are part of a broad march into precision medicine.

Amgen Inc. bought Icelandic biotechnology company DeCode Genetics for $415 million in 2012, to acquire its massive database on Icelands population. U.S.-based Genentech Inc. is collaborating with Silicon Valley startup 23andMe to study the genetic underpinnings of Parkinsons disease.

Humans are computable," saidWang Jun, the chief executive officer of ChinasiCarbonX. "So we need a computable model that we can use to intervene and change peoples status, thats the whole point.

See the article here:

China Turns to Precision Medicine in Fight Against Cancer ... - Bloomberg

Genetic profiling can guide stem cell transplantation for patients with myelodysplastic syndrome – Medical Xpress

February 9, 2017 Credit: NIH

A single blood test and basic information about a patient's medical status can indicate which patients with myelodysplastic syndrome (MDS) are likely to benefit from a stem cell transplant, and the intensity of pre-transplant chemotherapy and/or radiation therapy that is likely to produce the best results, according to new research by scientists at Dana-Farber Cancer Institute and Brigham and Women's Hospital.

In a study published in the New England Journal of Medicine, the investigators report that genetically profiling a patient's blood cells, while factoring in a patient's age and other factors, can predict the patient's response to a stem cell transplant and help doctors select the most effective combination of pre-transplant therapies. The findings are based on an analysis of blood samples from 1,514 patients with MDS, ranging in age from six months to more than 70 years, performed in collaboration with investigators from the Center for International Blood and Marrow Transplant Research.

MDS is a family of diseases in which the bone marrow produces an insufficient supply of healthy blood cells. Treatments vary depending on the specific type of MDS a patient has; donor stem cell transplants are generally used for patients with a high risk of mortality with standard treatments.

"Although donor stem cell transplantation is the only curative therapy for MDS, many patients die after transplantation, largely due to relapse of the disease or complications relating to the transplant itself," said the study's lead author, R. Coleman Lindsley, MD, PhD, of Dana-Farber. "As physicians, one of our major challenges is to be able to predict which patients are most likely to benefit from a transplant. Improving our ability to identify patients who are most likely to have a relapse or to experience life-threatening complications from a transplant could lead to better pre-transplant therapies and strategies for preventing relapse."

Researchers have long known that the specific genetic mutations within MDS patients' blood cells are closely related to the course the disease takes. The current study sought to discover whether mutations also can be used to predict how patients will fare following a donor stem cell transplant.

Analysis of the data showed that the single most important characteristic of a patient's MDS was whether their blood cells carried a mutation in the gene TP53. These patients tended to survive for a shorter time after a transplant, and also relapse more quickly, than patients whose cells lacked that mutation. This was true whether patients received standard "conditioning" therapy (which includes chemo- and/or radiation therapy) prior to transplant or received reduced-intensity conditioning, which uses lower doses of these therapies. Based on these results, doctors at Dana-Farber are now working on new strategies to overcome the challenges posed by TP53 mutations in MDS.

In patients 40 years old and over whose MDS didn't carry TP53 mutations, those with mutations in RAS pathway genes or the JAK2 gene tended to have a shorter survival than those without RAS or JAK2 mutations. In contrast to TP53 mutations, the adverse effect of RAS mutations on survival and risk of relapse was evident only in reduced-intensity conditioning. This suggests that these patients may benefit from higher intensity conditioning regimens, the researchers indicated.

The study also yielded key insights about the biology of MDS in specific groups of patients. Surprisingly, one in 25 patients with MDS between the ages of 18 and 40 were found to have mutations associated with Shwachman-Diamond syndrome (a rare inherited disorder that often affects the bone marrow, pancreas, and skeletal system), but most of them had not previously been diagnosed with it. In each case, the patients' blood cells had acquired a TP53 mutation, suggesting not only how MDS develops in patients with Schwachman-Diamond syndrome but also what underlies their poor prognosis after transplantation.

The researchers also analyzed patients whose MDS arose as a result of previous cancer therapy (therapy-related MDS). They found that TP53 mutations and mutations in PPM1D, a gene that regulates TP53 function, were far more common in these patients than in those whose disease occurred in the absence of previous cancer treatment.

"In deciding whether a stem cell transplant is appropriate for a patient with MDS, it's always necessary to balance the potential benefit with the risk of complications," Lindsley remarked. "Our findings offer physicians a guide - based on the genetic profile of the disease and certain clinical factors - to identifying patients for whom a transplant is appropriate, and the intensity of treatment most likely to be effective."

Explore further: Mutations in lymphoma patients undergoing transplants raise risk of second cancers

A significant percentage of lymphoma patients undergoing transplants with their own blood stem cells carry acquired genetic mutations that increase their risks of developing second hematologic cancers and dying from other ...

(HealthDay)Umbilical cord blood may work as well as current alternatives for adults and children with leukemiaor even better in some cases, according to a study published in the Sept. 8 issue of the New England Journal ...

New research shows that quickly identifying patients with high-risk acute myeloid leukemia (AML), and speeding the process to find them a stem cell donor and performing the transplant earlier, can significantly improve their ...

Patients with the most lethal form of acute myeloid leukemia (AML) - based on genetic profiles of their cancers - typically survive for only four to six months after diagnosis, even with aggressive chemotherapy. But new research ...

Fred Hutchinson Cancer Research Center announced promising results from an early trial in which patients with high-risk acute myeloid leukemia received genetically engineered immune cells. Of the 12 AML patients who received ...

A large, nationwide study published in the journal JAMA Oncology found that people who received transplants of cells collected from a donor's bone marrow the original source for blood stem cell transplants, developed decades ...

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

See more here:

Genetic profiling can guide stem cell transplantation for patients with myelodysplastic syndrome - Medical Xpress

Why do people accept biotech in medicine but not GMO foods? – Genetic Literacy Project

[Editors note: this article summarizes a paper (PAY WALL)published in the journalAnnual Review of Resource Economics.]

In a paper The Political Economy of Biotechnology Ron Herring of Cornell University and Robert Paarlberg of Harvard Kennedy School look for pushes and pulls in the material interests of advocates and opponents of these technologies seek reasons in political structures, social behaviour and public notions of acceptable risk.

[P]ublic disapproval of genetic engineering of crop plants, despite important science academies supporting the technology, is hard to comprehend.

[T]here is no evidence of GE crops grown so far posing new risks to humans, animals or the environment. The same public accepts drugs like insulin made with recombinant DNA technology. It discounts the risks thrown up during clinical trials. Its distrust of regulatory authorities charged with the approval of GE crops stands in contrast to its faith in medical regulators despite tragic errors: thalidomide approved for morning sickness caused birth defects in thousands of babies. What accounts for these differing standards?

Transnational environmental groups like Greenpeace have also been effective in stigmatizing GE crops as GMOs (genetically-modified organisms)

Environmentalists and private enterprise-hating leftists have also been able to paint GE technology as a conduit for corporate control of national agricultural systems.

In the case of GE crops, opponents have constructed uncertainty as risk.

Proving the absence of risk is impossible for science, the authors say.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Explaining the Political Economy of Biotechnology Which Makes Recombinant DNA Technology Acceptable in Medicine But Not Genetic Engineering of Plant Crops

Link:

Why do people accept biotech in medicine but not GMO foods? - Genetic Literacy Project

Researchers find genetic cause of new type of muscular dystrophy – Medical Xpress

February 9, 2017

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy. The research was published in the American Journal of Human Genetics by researchers from the George Washington University (GW), St. George's University of London, and other institutions.

"The average pediatrician may only see one child with a rare disorder in his or her entire career. Even working with a team of specialists, it can sometimes take years for a child to be diagnosed with a specific rare disease," said Chiara Manzini, Ph.D., co-corresponding author for the study and assistant professor in the GW Institute for Neuroscience and in pharmacology & physiology at the GW School of Medicine and Health Sciences. "With a correct diagnosis, families have access to the best care and what to expect as far as the progression of the disease. From a research standpoint, we can develop new, targeted therapies to help these patients."

The research team found five individuals from four families presenting with variable clinical features, including muscular dystrophy, short stature, intellectual disability, and cataracts. While these indicators overlap with related syndromes, dystroglycanopathies and Marinesco-Sjgren syndrome, sequencing revealed a unique mutation in the gene INPP5K in the affected members of each family. This is what led the researchers to believe these individuals are presenting a new type of congenital muscular dystrophy.

Congenital muscular dystrophy is a group of muscular dystrophies characterized by muscle weakness, with its onset at or near birth. The cause is genetic mutations in genes responsible for making the proteins necessary to build and maintain muscles, and sometimes to correctly develop the eyes and the brain. However, the INPP5K gene is unique in that it has a different function than other genes associated with congenital muscular dystrophy. Most genes involved in congenital muscular dystrophy are responsible for maintaining contacts between muscle fibers, while this gene has a function inside the cell and regulates both signaling in response to factors like insulin, and protein trafficking.

"Now that we've identified the genetic mutation, we want to know why the disruption in the gene causes this disorder," said Manzini. "The unique mechanism of this gene could help us develop therapies we have not thought about before, and may move research in a different direction."

"Mutations in the inositol phosphatase INPP5K cause a congenital muscular dystrophy syndrome overlapping the dystroglycanopathies and Marinesco-Sjgren Syndrome" was published in The American Journal of Human Genetics.

Explore further: New research increases understanding of Duchenne muscular dystrophy

A new paper, co-written by faculty at Binghamton University, State University of New York, increases the understanding of Duchenne muscular dystrophy (DMD)one of the most common lethal genetic disordersand points to ...

Myotonic dystrophy type I (MD1) is a common form of muscular dystrophy associated with muscle wasting, weakness, and myotonia. These symptoms are linked to the accumulation of toxic gene transcripts in muscle cells that result ...

Duchenne muscular dystrophy is a chronic disease causing severe muscle degeneration that is ultimately fatal. As the disease progresses, muscle precursor cells lose the ability to create new musclar tissue, leading to faster ...

A potential way to treat muscular dystrophy directly targets muscle repair instead of the underlying genetic defect that usually leads to the disease.

Specific genetic errors that trigger congenital heart disease (CHD) in humans can be reproduced reliably in Drosophila melanogaster - the common fruit fly - an initial step toward personalized therapies for patients in the ...

A newly discovered mutation in the INPP5K gene, which leads to short stature, muscle weakness, intellectual disability, and cataracts, suggests a new type of congenital muscular dystrophy. The research was published in the ...

Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysmsballoon-like bulges of heart vesselsthat may ultimately ...

Investigators at the Medical University of South Carolina (MUSC) report pre-clinical research showing that a genetic variant encoded in neutrophil cystolic factor 1 (NCF1) is associated with increased risk for autoimmune ...

Geneticists from Trinity College Dublin have used our evolutionary history to shine light on a plethora of neurodevelopmental disorders and diseases. Their findings isolate a relatively short list of genes as candidates for ...

It's been more than 10 years since Japanese researchers Shinya Yamanaka, M.D., Ph.D., and his graduate student Kazutoshi Takahashi, Ph.D., developed the breakthrough technique to return any adult cell to its earliest stage ...

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

Original post:

Researchers find genetic cause of new type of muscular dystrophy - Medical Xpress

For people with congenital hearing loss, gene therapy successful in mice offers promise – Genetic Literacy Project

An improved gene therapy vector restores hearing and balance in genetically deaf mice, according to Bostons Childrens Hospital researchers[T]he mices levels of hearing are reported to be able to detect sounds as soft as 25 decibels, which is comparable to a whisper.

The new study found that [the newly developed synthetic vector] Anc80 could successfully transfer genes to the harder-to-reach areas of the outer hair cells when introduced into the cochlea.

We have shown that Anc80 works remarkably well in terms of infecting cells of interest in the inner ear, says [Konstantina Stankovic of Massachusetts Eye and Ear]. With more than 100 genes already known to cause deafness in humans, there are many patients who may eventually benefit from this technology.

This strategy is the most effective one weve tested, says [Gwenalle Gloc, Ph.D., of the department of otolaryngology at Bostons Childrens Hospital]. We now have a system that works well and rescues auditory and vestibular function to a level thats never been achieved before.

The researchers also discovered that the gene therapy restored balance in the mice and eliminated erratic movements.

[The study can be found here.]

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Groundbreaking gene therapy restores hearing, balance

Go here to read the rest:

For people with congenital hearing loss, gene therapy successful in mice offers promise - Genetic Literacy Project

Audentes Therapeutics: This Gene Therapy Story Could Deliver Significant Upside In 2017 – Seeking Alpha

Shares of Audentes Therapeutics (Pending:BOLD) have finished flat over the past year. As a very early stage biotech focused on progressing its innovative gene therapy products through the clinic, I hadn't given the company much thought as I felt there were no material catalysts on the radar that made it a buy.

BOLD data by YCharts

However, recently it popped up on my radar again, and I believe now the story is much more compelling for 2017.

On February 1st, the company announced FDA clearance of its IND (investigational new drug application) for drug candidate AT342 with the intent of treating patients with Crigler-Najjar Syndrome. This disease is a rare genetic disorder (hundreds of patients worldwide, prevalence 1-9 / 100 000)whereby patients' bodies are unable to convert and clear bilirubin. These patients consequently develop abnormally high levels of bilirub in the blood and can in some cases result in severe or life threatening symptoms, including neurological damage.

The drug candidate is an AAV8 vector containing a functional copy of the UTG1A1 gene. In a mouse model of the disease a single administration of AT342 clinically relevant decreases in total bilirubin levels in a durable manner that showed higher doses had higher efficacy.

The company now plans to launch a multi-center ascending dose phase 1/2 study, dubbed VALENS, with initial data due by the end of the year. Also, the company will initiate a clinical-assessment and run-in study, dubbed LUSTRO, which will enroll 16 to 18 Crigler-Najjar patients. The latter study will aid the company in finding patients for the VALENS study, as well as serve as a within patient control.

Primary endpoints for the VALENS study include safety and efficacy, with the latter measuring serum changes in bilirubin and tracking number of hours on phototherapy within a 24 hour period. Key secondary endpoints to keep an eye on include percentage of patients successfully weaned off phototherapy and DNA and RNA levels from liver biopsy at 24 weeks.

Phototherapy is the current standard of care for the condition, where the patient is exposed to a blue LED light in an apparatus- the light breaks bilirubin down into substances that are not toxic. However, as it is a lengthy process that requires 10 to 12 hours of treatment per day and diminishes quality of life, one can see why patients would prefer an alternative.

I would be remiss to mention the company's promising stable of gene therapy candidates, which includes AT132 for X-Linked Mytubular Myopothy (XLMTM), AT982 for Pompe Disease, and AT307 for CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia ( CASQ2-CPVT).

AT132 has shown promising data in preclinical studies, including improved disease symptoms and survival rates. An ongoing phase 1/2 trial is enrolling twelve patients and initial data will be reported around year end as well. XLMTM is a monogenic disease in which patients experience severe muscle weakness, respiratory failure and early death, with half dying by 18 months of age. Management has pointed out that in one study effects from a single administration of AT132 were seen to last four years to date.

In January, the company announced full year guidance and other important developments, including the initiation of large scale cGMP production at its own manufacturing facility. This plant would meet FDA and EMA guidelines and allow the company to manufacture the drugs in its pipeline when commercialized.

As for AT982 in Pompe disease, the company expects to report data from an investigator sponsored phase 1/2 study by year end. Pompe disease is currently treated by enzyme replacement therapy (NASDAQ:ERT), with current treatment Lumizyme generating over 650 million in 2015.

I believe AT309 is intriguing but a nonfactor this year, as the company plans to file an IND by the end of 2017 and only in 2018 will we see this candidate in the clinic.

With $119 million of cash as of September 30th and a market capitalization of around $340 million, it appears the company's gene therapy pipeline is being assigned a minimal valuation of only around $200 million when cash is backed out. The company expects its cash position to provide a runway into late 2018, but I expect a non-dilutive funding, partnership, or secondary offering by year end.

Shares of Audentes Therapeutics are a buy in my opinion, worth establishing a position in the near term. Shares could run considerably into data year end, at which point prior to read out investors might want to take partial profits to take risk off the table. I wouldn't be opposed to holding some shares longer term too, as there is considerable upside here if even one of its drug candidates posts positive results.

Risks include the above mentioned possibility of a dilutive financing, as well as any disappointing data in clinical candidates or unforeseen adverse safety events in early trials. As the company has multiple clinical candidates, downside caused by negative results in one would be cushioned to an extent by its deep pipeline and cash position.

Disclosure: I/we have no positions in any stocks mentioned, but may initiate a long position in BOLD over the next 72 hours.

I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

More:

Audentes Therapeutics: This Gene Therapy Story Could Deliver Significant Upside In 2017 - Seeking Alpha

Stanford scientists describe stem-cell and gene-therapy advances in scientific symposium – Scope (blog)

Using stem cells and gene therapy to treat orcure disease may still sound like science fiction, but a scientific meeting here last week emphasizedall the fronts onwhich it is moving closer and closer to fact.

Were entering a new era in medicine, said Lloyd Minor, MD, dean of the School of Medicine, in his opening remarks at the first annual symposium of the schools new Center for Definitive and Curative Medicine. Stanford researchersare poised to use stem cells and gene therapy to amelioratea wide swath of diseases, from common diagnoses such as diabetes and cancerto rare diseases ofthe brain, blood, skin, immune system and other organs. Ultimately, the goal is to create one-time treatments that can provide lifetime cures; hence the definitive and curative part of the centers name. Stanford is a leader in this branch of medical research, Minor said, addingThis is a vital component of our vision for precision health.

Stanford has a long history of leading basic-science discoveries in stem cell biology, andis now engaged in studyingmany different ways those discoveries couldbenefit patients, saidMaria Grazia Roncarolo, MD, who leads the new center.Our job is to produce clinical data so compelling that industry will pick up the product and take it to the next stage, Roncaraolo told the audience.

Among otherevent highlights:

More coverage of the days events is available in a story from the San Jose Mercury News that describeshowAnthonyOro, MD, PhD, and his colleagues are fighting epidermolysis bullosa, a devastating genetic disease of the skin. Oro closed his talk with a slightly goofy photo of a man getting a spray tan. It got a laugh, but his point was serious: Our goal for the cell therapy of the future is spray-on skin to correct a horrible genetic disease.

Ambitious? Yes. Science fiction? In the future, maybe not.

Previously: One of the most promising minds of his generation: Joseph Wu takes stem cells to heart,Life with epidermolysis bullosa: Pain is my reality, pain is my normaland Rat-grown mouse pancreases reverse diabetes in mice, say researchers Photo of Matthew Porteus courtesy of Stanford Childrens

See the article here:

Stanford scientists describe stem-cell and gene-therapy advances in scientific symposium - Scope (blog)

Two Infants Achieve Leukemia Remission After Gene Therapy – Oncology Nurse Advisor


Oncology Nurse Advisor
Two Infants Achieve Leukemia Remission After Gene Therapy
Oncology Nurse Advisor
"This bridge-to-transplantation strategy demonstrates the therapeutic potential of gene-editing technology." The approach is more practical than older allogenic approaches because the premanufactured CAR-T cells can be used "off the shelf"; they need ...

Visit link:

Two Infants Achieve Leukemia Remission After Gene Therapy - Oncology Nurse Advisor

World-Renowned Inventor, Author and Futurist Ray Kurzweil … – Business Wire (press release)

SANTA BARBARA, Calif.--(BUSINESS WIRE)--QAD Inc. (Nasdaq:QADA) (Nasdaq:QADB), a leading provider of enterprise software and services for global manufacturing companies, today announced that world-renowned inventor and futurist Ray Kurzweil will headline the speaker lineup for its annual customer conference,QAD Explore, May 8-11, 2017, at the Detroit Marriott at the Renaissance Center in downtown Detroit.

Described as the restless genius byThe Wall Street Journal and the ultimate thinking machine byForbes, Kurzweilis one of the worlds leading inventors, computer scientists, authors, thinkers and futurists.His keynote speech will take place onTuesday, May 9.

Kurzweils inventions include the CCD flatbed scanner, omni-font optical character recognition, and the first print-to-speech reading machine for the blind. He has written five New York Times best-selling books, including The Singularity Is Near andHow To Create A Mind. He is co-founder and chancellor of Singularity University.

Kurzweil also invented the first music synthesizer capable of recreating the grand piano and other orchestral instruments (Kurzweil Keyboard) for which he received a 2015 Technical GRAMMY Award for outstanding achievement in the field of music technology. A recipient of the National Medal of Technology from President Clinton, he was inducted into the National Inventors Hall of Fame in 2002. He holds 21 honorary doctorates.

We are incredibly lucky to have Ray Kurzweil delivering a keynote at QAD Explore 2017, said QAD Chief Marketing Officer Carter Lloyds. His insights into the wide-ranging effects that computers, the internet and artificial intelligence have on the world are fascinating. With so many of our customers looking to leverage innovations like machine learning and the internet of things, its the perfect time to make Ray a part of our biggest event.

Explore is QADs largest annual event where customers, partners, sponsors and QAD experts come together for a week of informative sessions, hands-on training, manufacturing industry-specific presentations and networking. Theagendaprovides updates on key trends in manufacturing, strategic developments in the industries QAD serves, and information on new solution developments. Attendees will hear from over75 speakers, including QAD executives, customers and manufacturing authorities.

In addition to over 60 speakers, Explore features more than 40 workshops and hands-on training classes, many of which count toward APICS continuing education credits. The QAD Solutions Expo provides ample opportunities for sponsors and other members of the QAD community to exhibit, demonstrate and solicit feedback on their products and solutions.

Customers can register for the event atexpore.qad.com/register. QAD is offering an early bird registration fee of $1,295 (a $600 discount) for those who sign up byMarch 31. Full-price registration extends through the event. Registration includes access to more than 40 sessions, invitations to the Welcome Reception and the closing night off-site dinner, meals during the event, electronic access to all presentation materials, and access to the Solutions Expo show floor.

For the latest updates on QAD Explore 2017, follow @QAD_Community on Twitter, and look for #QADExplore.

About QAD The Effective Enterprise

QAD Inc. (Nasdaq:QADA) (Nasdaq:QADB) is a leading provider of enterprise software and services designed for global manufacturing companies. For more than 35 years, QAD has provided global manufacturing companies with QAD Enterprise Applications, an enterprise resource planning (ERP) system that supports operational requirements, including financials, manufacturing, demand and supply chain planning, customer management, business intelligence and business process management. QAD Enterprise Applications is offered in flexible deployment models in the cloud, on-premise or in a blended environment. With QAD, customers and partners in the automotive, consumer products, food and beverage, high technology, industrial products and life sciences industries can better align daily operations with their strategic goals to meet their vision of becoming more Effective Enterprises. For more information about QAD, call +1 805-566-6000, visitwww.qad.com.

QAD is a registered trademark of QAD Inc. All other products or company names herein may be trademarks of their respective owners.

Note to Investors: This press release contains certain forward-looking statements made under the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to, statements regarding projections of revenue, income and loss, capital expenditures, plans and objectives of management regarding the Companys business, future economic performance or any of the assumptions underlying or relating to any of the foregoing. Forward-looking statements are based on the companys current expectations. Words such as expects, believes, anticipates, could, will likely result, estimates, intends, may, projects, should, would, might, plan and variations of these words and similar expressions are intended to identify these forward-looking statements. A number of risks and uncertainties could cause actual results to differ materially from those in the forward-looking statements. These risks include, but are not limited to: risks associated with our cloud service offerings, such as defects and disruptions in our services, our ability to properly manage our cloud service offerings, our reliance on third-party hosting and other service providers, and our exposure to liability and loss from security breaches; demand for the company's products, including cloud service, licenses, services and maintenance; pressure to make concessions on our pricing and changes in our pricing models; protection of our intellectual property; dependence on third-party suppliers and other third-party relationships, such as sales, services and marketing channels; changes in our revenue, earnings, operating expenses and margins; the reliability of our financial forecasts and estimates of the costs and benefits of transactions; the ability to leverage changes in technology; defects in our software products and services; third-party opinions about the company; competition in our industry; the ability to recruit and retain key personnel; delays in sales; timely and effective integration of newly acquired businesses; economic conditions in our vertical markets and worldwide; exchange rate fluctuations; and the global political environment. For a more detailed description of the risk factors associated with the company and factors that may affect our forward-looking statements, please refer to the company's latest Annual Report on Form 10-K and, in particular, the section entitled Risk Factors therein, and in other periodic reports the company files with the Securities and Exchange Commission thereafter. Management does not undertake to update these forward-looking statements except as required by law.

View post:

World-Renowned Inventor, Author and Futurist Ray Kurzweil ... - Business Wire (press release)