Monthly Archives: February 2014

Health-Care Storm Roils White House Again

Posted on by

Since Democrats passed President Barack Obamas health-care overhaul in 2010, the White House has tried to move its agenda beyond the storm of criticism that followed. Yet every time Mr. Obama and his aides find reprieve from one politically charged battle the Supreme Court case, the many Republican attempts to repeal the law and the 2012 election, to name a few another emerges.

This week it was a report by the nonpartisan Congressional Budget Office that predicts the law will insure fewer people than expected and reduce the number of hours that Americans work by more than previously thought. Republicans seized on the findings.

The report came on the heels of Mr. Obamas State of the Union address, where he approached the issue in a way that suggested his team was looking to finally turn the page on months of embarrassing revelations about the laws rollout. Mr. Obama made clear in the speech that he was done apologizing for the botched rollout, which emboldened critics of the law and even turned some supporters of it into skeptics.

Instead he touched on the laws success stories and sought to refocus his agenda on the economy. He followed up with a series of events showcasing his new executive actions on the economy as he races to accomplish some of his economic goals.

That lasted about six days.

For the White House, the CBO report is distraction dj vu: its latest effort to set its own agenda once again has been cut short by the latest problem with the health-care law. The White House is again reacting to events, refighting old battles and trying to win the war of public opinion on Mr. Obamas health-care overhaul.

The cycle seems destined for repetition all year, no matter what message Mr. Obama tries to push. Republicans have long been determined to make the health-care law his political quagmire, and that includes making it a dominant fixture in Novembers midterm elections.The GOP plans to highlight every hiccup in the law and every story that suggests its now working up to the standard Mr. Obama promised.

The National Republican Senatorial Committee used the CBO report to criticize Democratic candidates, saying their support for the health-care law has dire consequences for their constituents.

So many of the promises these Democrats repeatedly made about ObamaCare have turned out to be false, and unfortunately middle-class Americans continue to pay the price, Brook Hougesen, NRSC press secretary, said in a statement.

For the White House, this means having to continue fighting a rearguard action that keeps overshadowing Mr. Obamas agenda.White House press secretary Jay Carney faced questions about the report Wednesday, while trying to highlight Mr. Obamas economic initiatives. He argued that the report was largely positive news for the White House, saying it showed the law will cut the deficit and insure millions of Americans. But Republicans seized on it to feed public skepticism about the law.

Here is the original post:

Health-Care Storm Roils White House Again

Former Red Hat COO Helps Health Care Providers Work Together (Video)

Posted on by

Do you remember the worries about getting different health care software systems to work with each other as health care providers starting moving away from paper? It's still a problem, but Joanne Rohde's company, Axial Exchange, is working to cure that problem not only as an entrepreneur but also because she has personal reasons to see health care providers communicate better with each other. In a 2012 interview for Huffington Post, she said, "While I was working for Red Hat, I got very sick... I ultimately had to go to 10 doctors to be diagnosed. Going from doctor to doctor, I could not believe I had to start over each time. No one actually talks to each other I became convinced that if I had had all the information, I probably would have been able to figure it out faster." In fact, Joanne got so sick that she quit her job as Red Hat COO after four years with the company. Once she started getting decent treatment for her Fybromyalgia and started getting better, she decided to apply open source principles to health care IT -- and to start a new company to do it. Opensource.com talked with Joanne in September 2013, and in January 2014 she talked with Health Care Finance News for an article titled Patients key to reducing readmissions. A phrase Joanne seems to be using a lot lately is "patient engagement," which has become a major part of Axial Exchange's work to improve communications not only between different health care providers but also between those providers and their patients. Update: 02/05 20:16 GMT by T : If you're seeing this post on beta.slashdot.org, note that we're still ironing out the details of video display here. You can view the video on tv.slashdot.org, instead. Please pardon our dust.

Robin Miller:This is Joanne Rohde who is the Founder and CEO of Axial Exchange a company thats busily working to make it easier for healthcare providers to share healthcare records, that is your patient records safely, securely and quickly. She was recently quoted as saying patients are the key to reducing readmissions How is that? What does that mean?

Joanne Rohde:Well, I think that we are moving from what I call the myth of the Dr. Welby healthcare system, and I think it was always a myth that there is this all-knowing physician thats going to take care of you and your family to the reality that we are a nation of chronic disease. As we jokingly say sometimes no one gets well in the hospital, what do we mean? You might be diagnosed in the hospital, you might get patched up in the hospital, you might get your tests taken, but you get well once you leave. If you get well. And healthcare really hasnt recognized that yet. And so they dont really meet the patients where they live and where they improve

The second thing in this parochial view of patients is this idea that patients really cant understand what they need to take care of their health. And that is just a myth, because any sick person Ive ever talked to wants nothing more than to get better. And they are much more vested in that than the healthcare provider, I dont care what economic incentives we change in this country, your physician is not living your life.

And then thirdly, I think the healthcare organizations have not done the minimal job of trying to see the world through the lens of the patient. So even though were starting to make progress in selling to healthcare organizations I often hear the patient relationship referred to as the last mile. So whats their view of the world? Their view of the world is: Here is the hospital, we are theheartof the world, youre going to come in here and were going to fix you up. First were going to fix whats going on thats wrong in our hospital, then were going to fix whats going wrong between the hospital and the other docs.

And then when we think weve got that, were going to talk to you, the patient. Instead of going the other way around and going, Well, wait a minute, this just isnt working, it isnt working where we are first place in costs, we are37th place inresultshow are we going to really check this? We are a nation of chronic diseases, theres nothing anybody can do in my care thats going to change that. Thats the question that we got to be able to answer as a country. And it is with the patient.

But where it is supposed to be a relationship between the healthcare providers and the patient gets to I think three different things: Teach me, engage me, and track me. And what that means is essentially is starting with the teaching, tell me what I need to know about my disease, let me learn, I might not have been reading it before I got sick, probably not, but now that I am sick, if you give it to me in a way that I can understand it I will learn it. So the big phrase there is in a way that I can understand it. Everybody has had that experience of standing in a doctors office with them going through the language of Greys Anatomy and you go What?, thats why part of the reason why we only maintain 8% of what we hear in a hospital situation when we get home.

The second is we dont do normal teaching even if we have the ability to get the phrases we dont teach that, we dont use testing, we dont use any of the things that we know get people to learn, so we dont employ any of those techniques. So it is not surprising that people dont really understand about their illnesses because they do not really talk about them when it comes right down to it.

The second in terms of engage me, comes to the, how are we going to work together, and that has everything to do with building a care team. So its not just the doctor you see, but do I have a physical therapist, do I have a mental health professional, have I seen a nutritionistall the pieces that youre going to need to get engaged in taking care of your own health and how do they share information.

And then finally track me, and I think there is a lot of proof coming thats not just for triathletes, I think that whether we like it or not anytime you ever written down everything you eat all day long, and its a pain to do so, anytime youve ever tracked how many steps you take, it really teaches you about yourself. And normally you can just ignore it, but if youre sick you might want to change it. So the measurement is very key. So those are really the three buckets, I think that we have to address if we are going to get patients to take responsibility in a way removed from a lose-lose situation, which is where I think healthcare is today, to a win-win situation where theres something in it for both the patients and the providers.

Go here to see the original:

Former Red Hat COO Helps Health Care Providers Work Together (Video)

Genetics & Medicine – Site Guide – NCBI – National Center …

Posted on by

Bookshelf

A collection of biomedical books that can be searched directly or from linked data in other NCBI databases. The collection includes biomedical textbooks, other scientific titles, genetic resources such as GeneReviews, and NCBI help manuals.

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information intheNIH Genetic Testing Registry (GTR),MedGen,Gene,OMIM,PubMedand other sources is accessible through hyperlinks on the records.

An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

An open, publicly accessible platform where the HLA community can submit, edit, view, and exchange data related to the human major histocompatibility complex. It consists of an interactive Alignment Viewer for HLA and related genes, an MHC microsatellite database, a sequence interpretation site for Sequencing Based Typing (SBT), and a Primer/Probe database.

A searchable database of genes, focusing on genomes that have been completely sequenced and that have an active research community to contribute gene-specific data. Information includes nomenclature, chromosomal localization, gene products and their attributes (e.g., protein interactions), associated markers, phenotypes, interactions, and links to citations, sequences, variation details, maps, expression reports, homologs, protein domain content, and external databases.

A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Summaries of information for selected genetic disorders with discussions of the underlying mutation(s) and clinical features, as well as links to related databases and organizations.

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

A database of known interactions of HIV-1 proteins with proteins from human hosts. It provides annotated bibliographies of published reports of protein interactions, with links to the corresponding PubMed records and sequence data.

See more here:

Genetics & Medicine - Site Guide - NCBI - National Center ...

Regents push for change in genetic medicine

Posted on by

Regents push for change in genetic medicine

BY KEVIN SVEC | FEBRUARY 06, 2014 5:00 AM

What was once confined only to science-fiction movies is now the subject of boardroom meetings. The University of Iowa Carver College of Medicine, the home to the Iowa Institute of Human Genetics, plans to start a revolution in modern medicine. Today, most of the medication prescribed is based on the weight and body surface area of the patient. The institutes goal is to promote an alternative, which will be known as personal genomic medicine.

Such medicine would cater to each patients specific needs. The medication prescribed would be based on the genetic makeup of a patient rather than her or his body index.

Using a genetic test, scientists would be able to evaluate each patients needs, allowing health-care providers to personalize each drug treatment.

The medicine will work with each individual patient based on her or his personal health risks. By personalizing the medicine, the doctors could increase the likelihood that the drug would have the best possible effect on each patient.

Richard Smith, the director of the Institute of Human Genetics, noted several advantages of genomic medicine.

Newborns would be able to have screenings done to determine what medication would work best from the beginning, said Smith.

According to the Jackson Laboratory website, any prescription drug now on the market only works for half of the people who take it. Antidepressants are effective for only 63 percent of those who take it. The percentage rate of effectiveness jumps to 75 percent among cancer patients. Genetic testing can change that.

Part of the process has started already. For those willing to pay, they can have their genes tested. The cost for the test is $296 through the UI Hospitals and Clinics, $256 through the institute. However, Medicare is willing to pay for $295 of the costs.

Link:

Regents push for change in genetic medicine

Critical factor (BRG1) identified for maintaining stem cell pluripotency

Posted on by

PUBLIC RELEASE DATE:

6-Feb-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, February 6, 2014The ability to reprogram adult cells so they return to an undifferentiated, pluripotent statemuch like an embryonic stem cellis enabling the development of promising new cell therapies. Accelerating progress in this field will depend on identifying factors that promote pluripotency, such as the Brg1 protein described in a new study published in BioResearch Open Access, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the BioResearch Open Access website.

In "BRG1 Is Required to Maintain Pluripotency of Murine Embryonic Stem Cells," Nishant Singhal and coauthors, Max Planck Institute for Molecular Biomedicine, Mnster, and University of Mnster, Germany, demonstrate the critical role the Brg1 protein plays in regulating genes that are part of a network involved in maintaining the pluripotency of embryonic stem cells. This same network is the target for methods developed to reprogram adult somatic cells.

"This work further clarifies the role of the Brg1 containing BAF complex in regulating pluripotency and has important implications for all cellular reprogramming technologies," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland.

###

About the Journal

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in promising areas of science and biomedical research, including, DNA and Cell Biology, Tissue Engineering, Stem Cells and Development, Human Gene Therapy, HGT Methods, and HGT Clinical Development, and AIDS Research and Human Retroviruses. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

See the original post here:

Critical factor (BRG1) identified for maintaining stem cell pluripotency

Alliance for Cancer Gene Therapy (ACGT) Targets Brain, Pediatric Cancers with $1 Million in New Grants

Posted on by

Stamford, CT (PRWEB) February 06, 2014

Alliance for Cancer Gene Therapy (ACGT) the nations only non-profit dedicated exclusively to cell and gene therapies for cancer is redoubling its efforts to treat and combat cancers in the New Year, and announces $1 million in recent grants.

The funding spread across three grants will support basic and clinical science at premier institutions in and outside the United States, with ACGTs mission top-of-mind: uncovering effective, innovative cancer treatments that supersede radiation, chemotherapy and surgery.

This January, ACGTs President and Co-Founder Barbara Netter has announced two Young Investigator Grants that provide promising researchers with $250,000 each for two- to three-year studies.

Young Investigator Fan Yang, PhD Assistant Professor of Orthopedic Surgery and Bioengineering at Stanford University will use the funds to research new treatment options for pediatric brain cancer, the leading cause of death from childhood cancer. Dr. Yangs study will deploy adult-derived stem cells to target solid brain tumor cells, which are often highly invasive and difficult to treat.

Arnob Banerjee, MD, PhD Assistant Professor of Hematology and Oncology at the University of Maryland will use ACGTs funding to further develop the long-term effectiveness of immune-mediated treatments, the most advanced form of gene therapy.

It is imperative that the best and brightest young scientists like Fan Yang and Arnob Banerjee have the funds necessary to study and treat cancer, Netter said. This was my husband Edwards vision in 2001, when gene cell therapy was a fledgling science. We are proud to continue his pioneering foresight today. Partnerships with Dr. Yang, a former fellow at MIT, and Dr. Banerjee, a former fellow and instructor at the University of Pennsylvania, dovetail with ACGTs record of funding outstanding researchers and physicians with the capability to make unprecedented breakthroughs.

The Young Investigator grants come on the heels of a $500,000 Investigators Award to John Bell, PhD, Senior Research Scientist and Professor of Medicine at the Ottawa Hospital Research Institute in Canada. Dr. Bell has worked extensively with oncolytic viruses man-made viruses that target only cancer cells, and spare patients the harrowing side-effects of chemotherapy, radiation or surgery and has discovered the enormous promise they offer in the war on cancer.

The research and trials funded by ACGTs grant have the potential to treat metastatic and recurrent brain cancer, extend patients survival timeline, and vastly improve patients quality of life during treatment, Dr. Bell said.

ACGT has served as a major funding engine in the fight against cancer since its formation in 2001, and has provided nearly $25 million in grants to date. ACGT was created by Barbara and Edward Netter after the loss of their daughter-in-law to breast cancer. Since Edwards passing in 2011, Barbara Netter has led the foundation as President and Co-Founder, continuing her husbands vision.

Excerpt from:

Alliance for Cancer Gene Therapy (ACGT) Targets Brain, Pediatric Cancers with $1 Million in New Grants

Futurist (definition): Common Types of Futures Thinking

Posted on by

Twelve Common Types of Foresight Thinking

Social Types

1. [Preconventional futurist]. One who thinks about the future in relation to self (ego, personal vision), but without either concern for or broad understanding of the norms and conventions of society.

2. [Personal futurist]. One who uses foresight to solve problems primarily for themselves, within the conventions of society, and whose current behavior is oriented to and influenced by their future expectations and plans.

3. [Imaginative futurist]. One who habitually develops future visions, scenarios, expectations, and plans in relation to self and others, knowing but sometimes breaking the conventions and norms of society.

4. [Agenda-driven futurist]. One who creates or works toward top-down developed (received, believed) ideological, religious, or organizationally-preferred agendas (sets of rules, norms) and their related problems, for the future of a group.

5. [Consensus-driven futurist]. One who helps create or work toward bottom-up developed (facilitated, emergent), group-, communally-, institutionally- or socially-preferred futures.

6. [Professional futurist]. One who explores change for a paying client or audience, who seeks to describe and advance possible, probable, or preferable future scenarios while avoiding undesirable ones, and who may seek to help their client or audience apply these insights (manage change).

Methodological Types

7. [Critical futurist]. One who explores, deconstructs, and critiques the future visions, perspectives, and value systems of others, not primarily to advance an agenda, to achieve consensus, or for payment, but as a methodology of understanding.

See the original post here:

Futurist (definition): Common Types of Futures Thinking

Global Futurist and Trends Expert, Jack Uldrich, to Keynote the 48th Annual Association for the Advancement of …

Posted on by

Boston, MA (PRWEB) February 06, 2014

From Thursday, February 6, to Sunday, February 9, the Association for the Advancement of International Education will be holding its 48th Annual Conference at the Westin Copley Place in Boston, MA. The keynote address will be given on February 7th by noted futurist and author, Jack Uldrich.

This year's AAIE conference theme of "Eyes on the Future: Future Trends and Foresight Education" will be addressed by Uldrich as he shares insights from his latest book, "Foresight 20/20: A Futurist Explores the Trends Transforming Tomorrow," and highlights from "Higher Unlearning: 39 Post-Requisite Lessons for Achieving a Successful Future."

During his presentation, Uldrich will focus on the practice of unlearning as a key concept, (a video of his TED Talk on unlearning can be viewed here: http://www.youtube.com/watch?v=AR9fdhJGxtI.)

Uldrich will also provide an overview of how technological change and enhanced mobility is rapidly shifting the expectations and behavior of students, teachers, parents and administration, thereby upending long-standing educational models. Throughout the presentation, Uldrich will use vivid analogies and memorable stories, and videos and games drawn from a wide spectrum of industries, to ensure his message of change is both inspirational and applicable.

A sample of some his ideas on the future of education can be found in this chapter, The Future of Higher Education: A Cloudy Forecast from his latest book Foresight 2020: A Futurist Explores the Trends Transforming Tomorrow.

In the past year, Uldrich has addressed dozens of educational groups and associations, including customized keynote presentations for Indiana University, The Council of Great Lakes Schools, The University of Minnesotas Carlson School of Business, Educational Services of America, Belmont University, The Chief Learning Officers Summit, The Minneapolis Public School System, The Teaching and Technology Conference, The League of Innovation, The California League of Middle Schools, The American Technical Education Association and the 2013 European Association for International Education's annual conference, in Istanbul. Uldrich has also addressed a number of major, non education-related corporations and institutions on the topics of future trends, change management and unlearning, including Cisco, IBM, PepsiCo, United Healthcare, Case IH, Guardian Life Insurance, WiPro, and General Electric.

Parties interested in learning more about Jack Uldrich, his books, his daily blog or his speaking availability are encouraged to visit his website at: http://www.jumpthecurve.net. Media wishing to know more about the event or interviewing Jack can contact Catherine Glynn.

Jack Uldrich is a renowned global futurist, technology forecaster, best-selling author, editor of the monthly newsletter, The Exponential Executive, and host of the award-winning website, http://www.jumpthecurve.net.

See the original post:

Global Futurist and Trends Expert, Jack Uldrich, to Keynote the 48th Annual Association for the Advancement of ...

Obama Prods Nations on Religious Freedom

Posted on by

Feb 6, 2014 11:32am

Speaking at the annual National Prayer Breakfast this morning, President Obama vowed to promote religious freedom around the world, arguing that freedom of religion matters to our national security.

Around the world freedom of religion is under threat, he told the non-denominational gathering of political leaders. We see governments engaging in discrimination and violence against the faith. We sometimes see religion twisted in an attempt to justify hatred and persecution against other people just because of who they are, how they pray or who they love.

History shows that nations that uphold the rights of their people, including the freedom of religion, are ultimately more just and more peaceful and more successful. Nations that do not uphold these rights sow the bitter seeds of instability and violence and extremism, he said.

The president said that in meetings he has urged the leaders of China, Burma, Nigeria, and others, to protect the rights of religious minorities.

Ive made the case that no society can truly succeed unless it guarantees the rights of all of its peoples, he said. So promoting religious freedom is a key objective of U.S. foreign policy.

Obama went on to call for the release of prisoners being held for their religious beliefs, including Kenneth Bae, the Christian missionary being held in North Korea, and Pastor Saeed Abedini, who is imprisoned in Iran.

As we pray for all prisoners of conscience, whatever their faiths, wherever theyre held, lets imagine what it must be like for them. We may not know their names, but all around the world there are people who are waking up in cold cells, facing another day of confinement, another day of unspeakable treatment, simply because they are affirming God, he said. Despite all theyve endured, despite all the awful punishments if caught, they will wait for that moment when the guards arent looking and when they can close their eyes and bring their hands together and pray.

Reflecting on his own faith, the president noted that the event is a chance to put aside party labels and recall what we are first: all children of a loving God, brothers and sisters called to make his work our own.

Here we give thanks for his guidance in our own individual faith journeys. In my life he directed my path to Chicago and my work with churches who are intent on breaking the cycle of poverty in hard-hit communities there. And Im grateful not only because I was broke and the church fed me, but because it led to everything else, he said.

Read this article:

Obama Prods Nations on Religious Freedom

Obama: Freedom of Religion Is Under Threat

Posted on by

President Barack Obama said religious freedom is under threat, and highlighted the plight of two American Christians held in North Korea and Iran.

In his address to the National Prayer Breakfast, an annual gathering of lawmakers and numerous faith leaders, Mr. Obama said its clear that around the world freedom of religion is under threat. He said the U.S. works with countries that dont live up to Americas standard of religious tolerance and pointed to China as an example. He said Americas relationship with the Chinese is important to the world but said that he stresses in meetings with Chinese leaders the need to uphold universal rights for Christians, Tibetan Buddhists and others.

Nations that do not uphold these rights sow the bitter seeds of instability and violence and extremism. So freedom of religion matters to our national security, he said.

He cited North Korea, where Christian-American missionary Kenneth Bae has been held for more than a year because of his and was recently sentenced to 15 years of hard labor for unspecified hostile acts. The U.S. has sought his release and Mr. Obama vowed the United States will continue to do everything in our power to secure his release, because Kenneth Bae deserves to be free.

Mr. Obama also mentioned Pastor Saeed Abedini, who was arrested in Iran for his efforts to spread Christianity and sentenced to eight years in prison on national security charges. As we continue to work for his freedom, today, again, we call on the Iranian government to release Pastor Abedini, so he can return to the loving arms of his wife and children in Idaho, the president said.

Sen. Kelly Ayotte (R., N.H.) was quick to tweet her approval. Appreciate POTUS prayers this AM for Americans Kenneth Bae & Saeed Abedini imprisoned in North Korea & Iran-we pray for their release.

On the Mideast, Mr. Obama said the U.S. has made clear to Israelis and Palestinians that lasting peace will require freedom of worship and access to holy sites for all faiths.

Mr. Obama, a Christian, told the gathering that Gods teachings led him to do community service in Chicago and to his wife, Michelle. His faith, he said, led me to public service, and the longer I serve, especially in moments of trial or doubt, the more thankful I am of Gods guiding hand.

Follow @wsjwashington on Twitter

Originally posted here:

Obama: Freedom of Religion Is Under Threat

To Catch a Killer Gene: Sisters Race to Stop Mystery Disease

Posted on by

Days before she ended her pregnancy, Joselin Linder was thrilled to imagine herself as a parent. She was 37, newly-married, and though her baby-to-be wasnt planned, it was soon deeply desired. Maybe its that I played with dolls until I was so old I had to play with them in my closet, she says. But it seemed inevitable that I would one day be a mother.

Linder is not a mother today, more than a year later, because she had an abortion at 10 weeks. She still wanted the childwanted to call it George, perhapsbut she feared she would pass along the disease that killed her father in mid-life, practically fusing his organs and ballooning his body. She and her sister Hilary inherited the same unnamed illness, but as with most of the thousands of inheritable diseases known to science, there is no cureexcept for stopping the affected bloodline.

Its an agonizing form of prevention the Linder sisters have turned to four times combined. Theyve had three abortions, and in 2009, Hilary and her husband paid $20,000 out of pocket for a round of in vitro fertilization aimed at creating an unaffected embryo. The gene has killed five people in the Linder family, and it now threatens the sisters themselves. But if they have their way, it will die out in their generation.

I think thats a big deal, says Joselin, who lives in Brooklyn, N.Y. I think weve done something amazing with this particular gene.

The Linders story is personal, of course, but its also a public milestone. Its the first known example of genetic medicine not only identifying a deadly new mutationakin to the next Huntingtons or Cystic Fibrosisbut of a family banding together to stop a disease before it cuts a path through society itself. It illustrates the promise of genomic medicine, which may one day stop disease as we know it, but also the soul-troubling questions that arise when people have a hand in their own evolution.

America is experiencing a boom in biological fortune-telling. Doctors can now scan the genes of a fetus using only a drop of the mothers blood, testing for hundreds of known mutations, including Down syndrome. Soon theyll be able to detect a growing list of rare mutationsalmost none of them treatableand predict an embryos risk of more common ailments like diabetes, cancer, and heart disease. By that point, millions of pregnant women will be offered a God-like view of their child-to-be and a decision much like the Linders, a decision as miraculous as it is unnerving: When is a life worth living?

The family gene, as Joselin calls it, surfaced in the late 1980s, when her father William came home from a family trip complaining of swollen legs and strange fatigue. He waved it off as jet lag, but the swelling spread and the fatigue deepened. He was 40, vibrant and fit, a busy doctor in Columbus, Ohio. But within a couple years he was forced into semi-retirement, hardly able to take the stairs.

Im very, very sick, he told Joselin, who was then 17, and surprised to see her father start to cry. In the years that followed, his body filled with a creamy white fluid, which doctors pumped out by the liter. He got rounder, but lighter, his muscles withering even as something in his belly grew.

He moved into Brigham and Womens Hospital, a Harvard-affiliated facility in Boston, where he confounded some of the countrys best doctors. In his records, which Joselin shared with NBC News, a series of gobsmacked specialists noted puzzling resultsan occult malignancysomething brewing. None could come up with a diagnosis, however, let alone a cure.

William Linder died a medical mystery in September of 1996, his autopsy revealing a body both starved and bloated. The cause of death was officially unknown. His daughters visited him often, right to the end, shuffling ICU visits into their college schedules. They never suspected that they were getting a preview of their own genetic destiny.

Read the original here:

To Catch a Killer Gene: Sisters Race to Stop Mystery Disease

Local Eco-Friendly Gym Gets National Recognition

Posted on by

GOLETA, Calif. -

Two local gyms are doing their part to reduce energy use and one facility caught the eye of a national magazine.

From pedal power, to weights, gyms are a place for people to get in shape, drop a few pounds and now generate electricity while building up a sweat.

University of California Santa Barbara's recreation center has five stationary bikes that actually pump energy back into the grid.

"I think it's a great idea. It's eco-friendly. If they could do this to more of the machines it could supply energy to the whole establishment," said student Greyson Schultz.

Other machines at the recreation center are powered only by the people on them and do not plug into an outlet.

"I know all the students who come in, kind of a new generation, that's their focus," said Bruce Hansen, the recreation center general manager.

AC4 Fitness owner Tony Calhoun has been in the gym business for three decades. He said a lot has changed, and he is glad to be on the cutting edge.

"Technology is becoming more and more available across the nation, if not the world," said Cahoun.

The AC4 Fitness gyms in both Goleta and Santa Barbara use ReRev on all the ellipticals. It converts workouts into useable energy.

Read more here:

Local Eco-Friendly Gym Gets National Recognition