From the Editor 0Updated at 3:08 pm, February 14th, 2017 By: Nate Sunderland, EastIdahoNews.com We Matched

My son Michael, 10, acting like the genetic test was no big deal. He didnt even flinch when the needle went in. Then he bragged about his bravery for the next several hours.

For the last several months, members of the EastIdahoNews.com team have received a surprising number of inquiries about whether I died following my heart transplant in October.

Im not dead. Obviously.

And since so many of you have asked for an update: Im happy to provide one and on Valentines Day. You know, because of hearts and stuff.

The truth is, not a whole lot has really changed since the transplant. Im still living in Utah in a kind of recovery limbo as my body gradually regains its strength and adapts to this new heart.

Doctors are routinely tweaking my massive dose of daily medications to ensure organ rejection doesnt set in. Its a process that will likely take a year or more.

One of weird parts of constantly tweaking medications is the funky side effects.

For one, I get tremors. I shake and shiver constantly for no apparent reason. I feel temperatures differently. I get random chills and when I touch something semi-hot like getting into a hot shower it initially feels like Im dousing myself in flames. Even just going outside in the sun makes my skin feel like its on fire.

There is also constant tingling in my hands, feet and oddly lips. My wife also says the steroids Im on make me moody and emotional, but Im fairly certain thats not true.

Thankfully, the side effects have been relatively benign for me. There are many transplant patients who have much more severe side effects, so I cant really complain.

The worst part of transplant recovery are the biopsies a process where they stick catheters down through an artery in your neck so they can cut out tiny pieces of your heart to test. Its creepy but fascinating to watch a tiny claw on a monitor cut away at your heart.

This is what a heart biopsy looks like. Thats a very tiny claw poking around my heart, which cuts off millimeter chunks for study. The pieces are pulled through a catheter in my neck. And those wires? Thats where my sternum was wired shut after my transplant surgery.

Biopsies are used to check for organ rejection. I used to get a biopsy weekly, but the further I get from transplant the less often I have to get them. Now I see my doctors a couple of times a month and get a biopsy and a battery of other tests once a month.

Thats mostly it. Besides the tests and appointments, the majority of time is spent working on the internet in my hotel room or at physical therapy where Im striving to regain my muscles.

The only major development that has come out of the last couple months is that I now know what actually caused my initial heart failure.

Jacob, 3, was the most apprehensive about the test and it took me and two nurses to hold him down to draw the blood. There were tears, but it was over quickly.

Not long after my transplant, my wife and I went to my doctor, concerned our three boys might be at risk for heart complications in the future. Physicians told me to get a genetic test.

I was told given the limited research into genetic disorders that cause heart problems, there was only a 20 percent chance the test would find a gene mutation that could cause heart failure. If the test came back negative, it would mean either I didnt have a mutation or that they just couldnt identify one.

Turns out Im one of the lucky (or perhaps unlucky) few to get a positive genetic test.

In technical terms, I have a c. 84482delC (p. Pro28161Leufs*13) mutation in my TTN (pronounced Titan) gene, which caused familial dilated cardiomyopathy, which is inherited person-to-person in an autosomal dominant manner.

Thats about as clear as mud, huh?

In laymans terms everyone has two copies of all their genes one from mom and one from dad. One copy of my TTN gene contains a mutation, causing it to unravel, which resulted in my heart essentially becoming deformed.

As a result of the malformed heart, I ended up in heart failure. When I didnt respond to treatment, I essentially started dying. Thankfully, the transplant saved my life.

The mutation isnt expected to cause me any more problems, since my new heart has a different set of genes. But my children each have a 50 percent chance of the same mutation occurring in their bodies.

Thats a scary thought.

My son Xander, 7, doesnt like needles but he got through the genetic test just fine.

So this last week, we got them tested and are awaiting the results. If any of my children do share the gene mutation, there are things we can do to forestall and treat their hearts to avoid the same situation I find myself in.

But it will be a lifelong change for them with regular heart tests and/or procedures probably forever.

We should get the test results back by the end of the month.

We are keeping our fingers crossed. And in the meantime were taking this recovery day by day.

Again, I want to thank everyone for the continued support. This trial has lasted for months and months now, and although it seems like forever, it does feel like things are gradually returning to normal.

Images in the news

Related Stories

Read more from the original source:
Sunderland: A heart update when your genetics turn on you - East Idaho News

HERSHEY, Pa. Olivier Noel is only 28 years old, but hes already changing the face of genetics research.

The Haitian native is in his sixth year of Penn State College of MedicinesMD/PhD Medical Scientist Training Programand was recently recognized by Forbes as one of the countrys brightest young entrepreneurs on its30 Under 30 list in the science industry. Hes the founder of DNAsimple, a startup aimed at accelerating genetics research by connecting DNA donors with research scientists. The company provides scientists with access to critically important samples, significantly speeding up the pace for genetics research.

People dont realize it can take years to get samples, but really only a month to get an assignment done which is a little bit ridiculous, Noel said. Its a problem for geneticists across the board. You can have a million dollars to do a study, but waste three years trying to get samples.

Noel explained a light bulb went off when he attended a genetics conference at the recommendation of Dr. Roger L. Ladda, whom he had been shadowing with the intent of focusing his residency on genetics.

The keynote speaker at the conference was talking about how he was studying a disease not really prevalent in the Western world, and the way they were able to get a DNA sample to validate was through Facebook. The joke at the time was that Facebook is the new way of doing genetics. I realized, wow, that worked well for one case but thats not the way science should get done, Noel said.

Noels big break was when the company was accepted into the Y Combinator program, which includes such notable alumni as Dropbox, Airbnb and Reddit. DNAsimple was one of 32 companies accepted from more than 6,500 applicants worldwide, he said. But he credits his doctoral advisors former Penn State faculty member Dr. Glenn S. Gerhard and Penn State College of Medicine Chair of Biochemistry and Molecular BiologyJames Broach for teaching him about genetics and exposing him to the Penn State Institute for Personalized Medicine.

Learn more about Noel and his work in this Penn State Medicine article.

Last Updated February 14, 2017

Read the original post:
College of Medicine graduate student launches genetics research startup - Penn State News

Sports genetics company Athletigen Technologies is teaming up with Kinduct Technologies, a data and analytics software provider, to integrate genetics with athletic performance data.

Athletigen is known for analyzing an athletes genetic makeup and using that to help the athlete achieve his or her performance goals. Kinduct allows teams and organizations to look at data from multiple athletes and use that to make informed decisions to improve individual performance.

The partnership with Kinduct is an exciting opportunity, with both companies focused on pushing the limits of human performance, Athletigen CEO Dr. Jeremy Koenig said in a statement Tuesday. Clients will now have access to genetic markers combined with performance data, biometric scores and subjective inputs to provide a comprehensive view of the athlete to help understand and improve their in-game performance.

Get The Latest Sports Tech News In Your Inbox!

Before teaming up with Athletigen, Kinducts products collected and analyzed data for a wide range of athletes. Now, there will be an added layer of genetics data.

For Athletigen, this partnership could be a way to expand the brand. Kinduct has established relationships inthe NHL, MLB, NFL, NBA, MLS and NCAA, and now, Athletigens insights in geneticscan reach teams in those leagues as well.

Read more from the original source:
Athletigen, Kinduct Technologies To Integrate Genetics With Athletic Performance Insights - SportTechie

HERSHEY, Pa. Olivier Noel is only 28 years old, but hes already changing the face of genetics research.

The Haitian native is in his sixth year of Penn State College of MedicinesMD/PhD Medical Scientist Training Programand was recently recognized by Forbes as one of the countrys brightest young entrepreneurs on its30 Under 30 list in the science industry. Hes the founder of DNAsimple, a startup aimed at accelerating genetics research by connecting DNA donors with research scientists. The company provides scientists with access to critically important samples, significantly speeding up the pace for genetics research.

People dont realize it can take years to get samples, but really only a month to get an assignment done which is a little bit ridiculous, Noel said. Its a problem for geneticists across the board. You can have a million dollars to do a study, but waste three years trying to get samples.

Noel explained a light bulb went off when he attended a genetics conference at the recommendation of Dr. Roger L. Ladda, whom he had been shadowing with the intent of focusing his residency on genetics.

The keynote speaker at the conference was talking about how he was studying a disease not really prevalent in the Western world, and the way they were able to get a DNA sample to validate was through Facebook. The joke at the time was that Facebook is the new way of doing genetics. I realized, wow, that worked well for one case but thats not the way science should get done, Noel said.

Noels big break was when the company was accepted into the Y Combinator program, which includes such notable alumni as Dropbox, Airbnb and Reddit. DNAsimple was one of 32 companies accepted from more than 6,500 applicants worldwide, he said. But he credits his doctoral advisors former Penn State faculty member Dr. Glenn S. Gerhard and Penn State College of Medicine Chair of Biochemistry and Molecular BiologyJames Broach for teaching him about genetics and exposing him to the Penn State Institute for Personalized Medicine.

Learn more about Noel and his work in this Penn State Medicine article.

Last Updated February 13, 2017

See the original post:
College of Medicine graduate student launches genetics research start-up - Penn State News

Scientists at the University of B.C.have built a better mouse one that is indifferent to cocaine.

Unlike normal mice, the genetically engineered rodents did not show addictive behaviour even after repeated injections of the narcotic over days, suggesting that habitual drug use in humans may be a matter of genetics.

While the finding is unlikely to yield a pill that cures addiction anytime soon, it could lead to a test that identifies who is at greatest risk of addiction and enable people to act on that knowledge, saidShernaz Bamji, the lead author of a study published today by the journal Nature Neuroscience.

The finding provides a biochemical model for addiction based onprevious work at Johns Hopkins University in Baltimore, Md., that found people with genetic mutations associated with a class of proteins in the brain called cadherins are more prone to substance abuse.

Cadherin helps bind cells together and play a role inwhich brain circuits are strengthened during learning even learning that certain drugs deliver pleasure.

Although Bamji had theorized that higher levels of cadherin would lead to more addictive behaviour, the opposite turned out to be true.

To better understand its role, the researchers engineered mice to produce excessive cadherin proteins in their brains.

Bamji and her collaboratorsinjected normal and genetically engineered mice with cocaine and placed them in a distinctly decorated room within a multi-room cage. On alternating days the mice were placed in the other room and injected with saline, said co-author Andrea Globa.

After six days of alternating treatments, the mice wereallowed to move freely to any of the rooms in the cage.

The normal mice greatly preferred the cocaine-associated room, but the high-cadherin mice didnt much care for it, suggesting that the presence of extra cadherin had somehow interfered with the learned response to cocaine.

Normal mice always gravitate to the chamber where they received the drug, looking for that high, but the mutant mice didnt, said Bamji.

The answer to the mysterious result was found inside the membrane of brain cellsthemselves, where cadherin interfered with the ability of a specialized proteinreceptor to functionat the synapse, the point at which neurons communicatewith each other chemically toform memories.

Unable to strengthen the connection between synapses, the brains learning circuitry couldntretaincocaines pleasurable memory.

Addiction is a form of learning in the reward circuits of the brain, she said. Where you dont get synapse strengthening, you arent getting learning and you arent getting addiction.

However, because many synapsesin the brain use the same strategy to learn, a magic bullet or pill for addiction is a long way off.

Simply increasing cadherin would likely prevent (addicts)from learning anything new, she said. Thats not a very good trade-off.

Future research might uncover a protein or enzyme in the brainmore specific to addiction that functions only in the reward circuitry of the brain, which could be a target for medication.

rshore@postmedia.com

CLICK HERE to report a typo.

Is there more to this story? Wed like to hear from you about this or any other stories you think we should know about. Email vantips@postmedia.com.

View post:
Cocaine addiction a matter of genetics, UBC researchers say - Calgary Herald

Shares of Sage Therapeutics ( SAGE) were up 8.6% ahead of the opening bell on Monday, trading at $51.50. The Cambridge, Mass. company unveiled encouraging top-line results from part A of its phase 2 study of SAGE-217 for the treatment of major depressive disorder. "Understanding the caveats associated with open-label data, we are highly encouraged by the strong signal we achieved in this study, which met our internal criteria for achieving a positive signal and thus supported our plan to proceed to the double-blind, placebo-controlled part of the Phase 2 trial," said Sage CEO Jeff Jonas in a statement.

Meanwhile, Immunomedics ( IMMU) shares rose 8% to $5.65 after finishing Friday's trading session at $5.23, up 21.6%. The Morris Plains, N.J. company on Friday announced a global licensing agreement with Seattle Genetics ( SGEN) for sacituzumab govitecan, Immunomedics' solid tumor therapy candidate.

Other biotech stock movers on Monday morning include molecular diagnostic company Myriad Genetics ( MYGN) , whose shares were up 6.2%, to $16.98.

Follow this link:
Biotech Premarket Movers: Sage Therapeutics, Immunomedics, Myriad Genetics - TheStreet.com

2017 is looking like a transition year for the biotech.

Seattle Genetics (NASDAQ:SGEN) released fourth-quarter earnings on Thursday and gave investors a taste of what's to come later this year. With modest growth for Adcetris, its only drug on the market, investors should be focused on Seattle Genetics' pipeline and clinical trials that could further expand sales of Adcetris.

Metric

Q4 2016

Q4 2015

Year-Over-Year Change

Revenue

$105 million

$93 million

12.6%

Income from operations

($55.8 million)

($25.1 million)

N/A

Earnings per share

($0.39)

($0.18)

N/A

Data source: Seattle Genetics.

Image source: Getty Images.

Clay Siegall, Seattle Genetics' president and CEO, asked investors to look past 2017 guidance and see the bigger picture: "What is really important with Adcetris is not the sales we have now. What's really important is going toward the big items of [ECHELON-1] and [ECHELON-2], and you can even include ALCANZA in there."

On the delay of submitting the application for CTCL patients, Siegall didn't even want to call it that. "To me it's not a delay. To me it's taking advantage of an opportunity," he said. "I think we have a really good opportunity to end up with a bigger market if we can get a bigger label."

Management guided for Adcetris sales of $280 million to $300 million this year, which is 5.3% to 12.9% higher than last year's sales. Royalty revenue is expected to be in the $50 million to $55 million range, down from the $67.5 million in 2016, but last year included a $20 million milestone payment.

The difference between the bottom and top of guidance likely has to do with how many doctors prescribe Adcetris for CTCL off-label ahead of the FDA approval. But capturing those patients now versus next year isn't particularly important for Seattle Genetics' long-term value.

Brian Orelli has no position in any stocks mentioned. The Motley Fool recommends Seattle Genetics. The Motley Fool has a disclosure policy.

Dr. Orelli is a Senior Biotech Specialist. He has written about biotech, pharmaceutical, and medical device companies for The Motley Fool since 2007.

Read the original:
Seattle Genetics Earnings: Waiting on ECHELON - Motley Fool

[W]hen the human genome was sequenced, scientists like [Joel Hirschhorn, a geneticist at Boston Childrens Hospital and the Broad Institute] thought they could plumb that data to track all the height genes.

That effort started slowly. But now, Hirschhorn says, For height there are about 700 variants known to affect height, each of them usually with a pretty small effect on height, usually like a millimeter or less.

Even so, the traits [Hirschhorn] found only explain about a quarter of the inherited height factors. And, frustratingly, for most of those variants scientists have no idea what they actually do.

Hirschhorn and his colleagues are expanding their already massive study of 700,000 subjects. That approach has drawn skepticism from some scientists, who think its a waste of effort.

David Goldstein, a professor of genetics at Columbia University, says an expanded effort could ultimately implicate every gene in existence, and that hardly helps scientists narrow down the biological factors that contribute to height.

Its likely scientists will never be able to figure out what these hundreds of common variants do to influence height, Goldstein says. Instead, a much better strategy is [to look] for rare variants that pack a big punch.

[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:Genetics of Height is Way Complex, It Turns Out

See the article here:
Genetics of height: It may be too complex for scientists to crack the code - Genetic Literacy Project

Find out which companies are about to raise their dividend well before the news hits the Street with StreetInsider.com's Dividend Insider Elite. Sign-up for a FREE trial here.

Miragen Therapeutics, Inc. (Nasdaq: MGEN), a clinical-stage biopharmaceutical company focused on the discovery and development of microRNA-targeted therapies, today announced the completion of its merger with Signal Genetics, Inc. (Nasdaq: SGNL) , effective February 13, 2017. Concurrent with the closing of the merger, miRagen received gross proceeds of $40.7 million in new equity investment from a combination of current and new miRagen investors, including Fidelity Management and Research Company, Brace Pharma Capital, Atlas Venture, Boulder Ventures, JAFCO Co., Ltd., MP Healthcare Venture Management, MRL Ventures (a venture fund of Merck, known as MSD outside the United States and Canada), Remeditex Ventures, and others. Together with pre-merger cash on miRagens balance sheet, the combined company has approximately $60 million in cash and short-term investments.

Upon completion of the merger today, Signal was renamed Miragen Therapeutics, Inc. The combined company will commence trading on The NASDAQ Capital Market under the symbol MGEN on February 14, 2017.

The completion of this merger marks a significant step forward for miRagen, our investors and potentially thousands of patients awaiting a therapeutic option for their conditions, said miRagen President and CEO William S. Marshall, Ph.D. The equity investment aligns the companys cash resources with our plan to advance the first two clinical programs into additional trials and to develop a compelling pipeline of targeted product candidates, each focused on patient populations with few clinical options. We believe these transactions will help us create a more focused and well financed organization as we build an exciting enterprise, an innovative culture and value for current and future stockholders.

Following the completion of the financing and merger, the combined company has approximately 21.3 million shares of common stock outstanding.

miRagens stockholders, including those who invested in the concurrent financing, received common stock, representing approximately 95.2% of the outstanding shares. Signals stockholders retained approximately 4.8% of the combined company.

The combined company will operate under the leadership of Dr. Marshall, and the board of directors of the combined company is comprised of seven members: Bruce Booth, John Creecy, Thomas Hughes, Kevin Koch, Kyle Lefkoff, Joseph Turner and Dr. Marshall.

Wedbush PacGrow acted as placement agent for miRagen in the financing.

Here is the original post:
miRagen Therapeutics (MGEN) Completes Merger with Signal Genetics (SGNL) - StreetInsider.com

Last week, Seattle Genetics (NASDAQ: SGEN) announced an agreement to licenseImmunomedics'(NASDAQ: IMMU) IMMU-132, a cancer drug that's already completed midstage phase 2 trials.

The deal could be a big win for Seattle Genetics, but it doesn't have the full support of all of Immunomedics investors. After the closing market bell on Friday, venBio Select Advisors, LLC -- the beneficial owner of 9.9% of Immunomedics shares -- said Immunomedics' board of directors is "giving away its crown jewel."

IMAGE SOURCE: GETTY IMAGES.

If the deal closes, Seattle Genetics will take over development of IMMU-132, an anti-TROP-2 antibody that can target multiple tumor types. Breast cancer, lung cancer, and colorectal cancers all overexpress the TROP-2 protein and therefore could conceivably be treated by IMMU-132.

In phase 2 trials of IMMU-132 in triple negative breast cancer, there was a 29% overall objective response rate in heavily pretreated patients. Historically, the duration of response in fifth-line triple negative breast cancer patients is measured in months, but IMMU-132 delivered a 10-month duration of response and a median overall survival rate of over 18 months.

About 15% of breast cancer patients are triple negative, and patients with this type of breast cancer have a poor prognosis. According to the National Cancer Institute, 246,660 new cases of breast cancer are diagnosed annually, causing 40,450 deaths every year.

There's a big need for new treatments, and that hasSeattle Genetics thinking IMMU-132 could qualify for an accelerated FDA approval. If so, then IMMU-132 will become Seattle Genetics' second commercial-stage drug. Management didn't offer up a timeline for filing a new drug application with the FDA; however, it did say it's going to evaluate its options and update investors on a future conference call.Last fall, Immunomedics told investors it hoped to file for FDA accelerated approval in the middle of 2017.

Seattle Genetics will pay Immunomedics $250 million in cash up front, plus an additional $50 million payment related to ex-U.S., Canada, and EU rights. If it wins an FDA green light, Immunomedics has an option to co-market IMMU-132 in America. Otherwise,Seattle Genetics will pay Immunomedics a tiered double-digit royalty that's based on sales.

Seattle Genetics also agreed to pay Immunomedics up to $1.7 billion in regulatory and sales milestone payments on IMMU-132, and Seattle Genetics agreed to let Immunomedics continue negotiating with other companies on rights to IMMU-132 until Feb. 19. If a competing offer is made, Seattle Genetics can match it. If Immunomedics selects a competing offer, then it will pay Seattle Genetics a breakup fee.

Separately, Seattle Genetics acquired 3 million shares of Immunomedics at $4.90 per share that aren't tied to the closing of this deal. Seattle Genetics also secured three-year warrants that allow it to acquirean additional 8,655,804 shares at $4.90 each.

Seattle Genetics already markets the lymphoma drug Adcetris, which is FDA approved for treating Hodgkin lymphoma patientswhose disease has progressed after autologous stem-cell transplant or after two prior chemotherapy treatments, if ineligible for transplant.Adcetris is also used to treat patients with systemic anaplastic large-cell lymphomawhose disease has progressed after one prior chemotherapy treatment. A trial evaluatingAdcetris as a front-line Hodgkin lymphoma therapy is anticipated to read out data this year.

With$265.8 millionin sales last year, Adcetris is no slouch, but IMMU-132 has the potential to haul in far more in revenue than that. Immunomedics commissioned an independent analysis of IMMU-132's market potential last year, and that study estimates that IMMU-132 could generate annual sales of $3 billion in 2025, if it gets approved for use in triple negative breast cancer,urothelial cancer, and lung cancer.

That's a big opportunity, but there's no guarantee that IMMU-132 will get an early OK from the FDA, and if it doesn't, then Seattle Genetics will have to conduct a confirmatory phase 3 study. While midstage trial results were solid, investors should remember that, historically, 30% to 40% of drugs that advance into phase 3 trials fail.

Of course, for Seattle Genetics to benefit from IMMU-132 at all, this deal has to close, and based on venBio's comments, that might not be a given. Immunomedics is engaged in a proxy fight with venBio, and in its statement onFriday,venBio's Behzad Aghazadeh said, "Immunomedics' announcement of a deal with Seattle Genetics is a blatant and shameful maneuver by the current board and management to manipulate the outcome of the upcoming annual meeting and entrench themselves at the expense of stockholders' best interests, and venBio is exploring all options to hold them accountable."

10 stocks we like better than Seattle Genetics

When investing geniuses David and Tom Gardner have a stock tip, it can pay to listen. After all, the newsletter they have run for over a decade, Motley Fool Stock Advisor, has tripled the market.*

David and Tom just revealed what they believe are the 10 best stocks for investors to buy right now... and Seattle Genetics wasn't one of them! That's right -- they think these 10 stocks are even better buys.

*Stock Advisor returns as of February 6, 2017

Todd Campbell has no position in any stocks mentioned.His clients may have positions in the companies mentioned.The Motley Fool recommends Seattle Genetics. The Motley Fool has a disclosure policy.

Read the original post:
Will Seattle Genetics' Deal With Immunomedics Get Scuttled? - Madison.com