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Category Archives: Gene Medicine

Collected Wisdom: Dr. Val Gene Iven combines love of sports with medicine – NewsOK.com

Dr. Val Gene Iven goes over some medical issues with Marcus Smart, an OSU basketball star from 2012-14. [PHOTO BY BRUCE WATERFIELD, OKLAHOMA STATE UNIVERSITY]

Val Gene Iven grew up in Pond Creek, north of Enid, then graduated from OSU and the OU Health Sciences. In 1993, he became the team doctor for University of Tennessee athletics. In 2007, Iven returned to OSU in the same role. Iven's brother, Van Shea, was the longtime Channel 4 sports reporter who now is on staff with the Oklahoma Secondary School Activities Association.

I was born in Enid. I'd have had to be born at the house if I was born in Pond Creek.

Growing up in Pond Creek, small-town values, to me those are the best days of my life. Just because the community, your work ethic, growing up on a farm, school system, everybody in town knew you. Can't beat that.

I thought at a pretty early age I wanted to be a doctor. Probably somewhere in the junior high years. I loved the farm life but had terrible allergies, just couldn't be around wheat dust. I could be on the tractor, but the wheat dust just ate me up. So I kind of thought, I want to be a doctor. Had a great role model in Enid, my pediatrician, Dr. (Robert) Shuttee. Went to college, and that's the route I went and never wavered.

Got my M.D. from OU Health Sciences Center. Stayed there, did my residency there in family medicine. Then stayed there and did a fellowship in primary care sports medicine. I was the first fellow that they had in primary care sports medicine.

I thought I wanted to go into medicine and probably thought early on, I just liked kids, maybe going into pediatrics. But I loved sports. Grew up around sports. Tried to combine the two worlds.

Right out of my fellowship, '93, there were a couple of openings at Division I, Tennessee and Florida. Interviewed with both. Tennessee, got the call back from them first. Didn't know anybody at Knoxville or anybody affiliated with the university. I remember telling mom and dad, I'm going to go do this for two or three years and I'll be back. Dad reminded me of that when I came back 13 years later.

This job is a lot that you don't learn in med school. There's just so much nowadays, from the NCAA, from the Big 12. It's much more than just being a physician. From all the things we do in regards to training, from rehabilitation, from nutrition, the whole world of drug testing. All of the people that you have to communicate with nowadays, in regards to coaches and administrators and families. So it's grown so much over the years, it's just a full-time job.

The opportunity brought me back to Stillwater. I had kept in contact with people. And Dr. (Mark) Pascale, our orthopedist, called and said the team physician, Dr. Ken Smith, who had replaced Dr. (Donald) Cooper, decided he was just going to fulfill a role in the student health center and they were looking for somebody full time. It was just an opportunity I couldn't pass up. Your folks are back in Oklahoma. My grandmother at the time was nearing 100. Kids having the opportunity to be around their grandparents. Being back at your alma mater.

Great opportunity in the SEC, meet those people. Now back at your alma mater for 10 years. I've just been blessed.

I missed most of Coach (Eddie) Sutton. But yeah, we've had unprecedented times now, in regards to the run we've had in football, in particular. When I first got back in '07, we were in the process of building. I remember (growing up) sitting in the end zone, wasn't bowled in. Dad and I would drive over on a Saturday, just for the game, drive back. Just wasn't near the world it is now, game day or facilities. So we've come a million miles.

Van Shea is six years younger. Mom thought she was pretty clever with our names. Dad's name is Gene. So she started with Val Gene. She'd heard there was a Val Gene's restaurant. I think that was part of it. And once she came up with Val Gene, she couldn't go with Frank. So she had to come up with something. And we've both been called each other's names.

I'm completely just Van Shea's brother. Anywhere I go, anybody I'm introduced to, it's all, Oh, your Van Shea's brother. And I'm proud of that.

Pond Creek is our roots. That's your family. That's what you're always going to remember and go back to in life in regards to kind of where you got your values and knowing people. I credit a lot of things I've learned through the years, dating back to my days from grade school and high school in Pond Creek.

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The First Results of Gene Editing in Normal Embryos Have Been Released – Futurism

Viable Editing

One of the most fascinating and promising developments in genetics is the CRISPR genome editing technique. Basically, CRISPR is a mechanism by which geneticists can treat disease by either disrupting genetic code by splicing in a mutation or repairing genes by splicing out mutations and replacing them with healthy code.

Researchers in China at the Third Affiliated Hospital of Guangzhou Medical University have successfully edited genetic mutations in viable human embryos for the first time. Typically, to avoid ethical concerns, researchers opt to use non-viable embryos that could not possibly develop into a child.

Previous research using these non-viable embryos has not produced promising results. The very first attempt to repair genes in any human embryos used these abnormal embryos. The study ended with abysmal results, with fewer than ten percent of cells being repaired. Another study published last year also had a low rate of success, showing that the technique still has a long way to gobefore becoming a reliablemedical tool.

However, after experiencing similar results with using the abnormal embryos again, the scientists decided to see if they would fare better with viable embryos. The team collected immature eggs from donors undergoing IVF treatment. Under normal circumstances, these cells would be discarded, as they are less likely to successfully develop. The eggs were matured and fertilized with sperm from men carrying hereditary diseases.

While the results of this round of study were not perfect, they were much more promising than the previous studies done with the non-viable embryos. The team used six embryos, three of which had the mutation that causes favism (a disease leading to red blood cell breakdown in response to certain stimuli), and the other three had the mutation that results in a blood disease called beta-thalassemia.

The researchers were able to correct two of the favism embryos. In the other, the mutation was turned off, as not all of the cells were corrected. This means that the mutation was effectively shut down, but not eliminated. It created what is called a mosaic. In the other set, the mutation was fully corrected in one of the embryos and only some cells were corrected in the other two.

These results are not perfect, but experts still do find potential in them. It does look more promising than previous papers, says Fredrik Lanner of the Karolinska Institute. However, they do understand that results from a test of only six embryos are far from definitive.

Gene editing with CRISPR truly has the possibility to revolutionize medicine. Just looking at the development in terms of disease treatment, and not the other more ethically murky possible applications, it is an extremely exciting achievement.

Not only could CRISPR help eradicate hereditarydisease, but it is also a tool that could help fight against diseases like malaria. There is a long road ahead for both the scientific and ethical aspects of the tech. Still, the possible benefits are too great to give up now.

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3 Huge Healthcare Trends and How to Invest in Them (Hint: One Is Marijuana) – Motley Fool

A growing and increasingly longer-living global population makes healthcare one of the most attractive sectors for investors, but I thinkthat genetic research, robotic surgery, and marijuana legalization could be the industry's biggest money-making opportunities. If so, then Illumina Corp.(NASDAQ:ILMN), Intuitive Surgical (NASDAQ:ISRG), and GW Pharmaceuticals (NASDAQ:GWPH) could be smart stocks to buy.

Researchers are increasingly finding that disease is caused by genetic abnormalities, and often, those discoveries are being made using machines and disposable supplies sold by gene-sequencing giant Illumina Corp.

IMAGE SOURCE: GETTY IMAGES.

Illumina is the largest manufacturer of systems used to sequence genetic code, and it's launching new machines this year that could make gene sequencing quicker and cheaper.

There are more than 7,500 of Illumina's machines installed at customers already, and increasing spending on DNA-driven research projects globally, such as precision medicine initiatives in China and the United States, should provide significant revenue and profit tailwinds for years, if not decades.

The company's machines can cost $1 million, or more, but the company really benefits from the ongoing sale of consumables necessary for these machines to operate. As more machines are deployed, revenue for consumables is growing, and since consumables offer more attractive profit margins, that's fueling earnings growth. Since 2011, Illumina's sales and profit have grown by compounded annual rates of 18% and 21%, respectively.

Although the boom-and-bust nature of research budgets means there will be some quarters that are better than other quarters, I believe Illumina's unlikely to lose its dominant position in this market, and if I'm right, then a trend over time toward medicine that aims to correct genetic abnormalities will provide significant opportunities for Illumina to reward investors. The company's newest machines could accelerate that trend, because they could eventually help lower the cost of sequencing genomes from $1,000 today to $100. The NovaSeq 6000, which costs about $1 million, began shipping this quarter.

Good news! Surgery is getting increasingly more precise, and that's reducing recovery times and improving patient outcomes.

At the forefront of this trend is robotics, and when it comes to robotic surgery, there's no better pure-play stock to buy than Intuitive Surgical.

Using research pioneered by DARPA for use on the battlefield, Intuitive Surgical pioneered the development of sophisticated machines that allow surgeons to control robotic arms when performing many surgeries, including prostate and gynecological procedures. Advances in these robotic systems should significantly expand their use in more procedures in the coming decades.

Today, there are almost 4,000 of Intuitive Surgical's da Vinci robotic systems installed at hospitals, and similar to Illumina, the high cost of these machines is only part of the reason I think Intuitive Surgical's going to be a big, long-term winner.

A da Vinci system can cost a hospital $1.5 million, but the average amount spent on replacement instruments and accessories used in operations is especially lucrative. According to management, every da Vinci procedure can produce up to $3,500 in instrument and accessory revenue. That's a lot of margin-friendly revenue when you consider that over 4 million procedures have been performed with these systems, including 750,000 last year alone. Instrument and accessory revenue totaled $1.4 billion, or about 70% of sales, in 2016.

SOURCE: INTUITIVE SURGICAL.

As robotic surgery systems improve, surgeons become more comfortable with them, and as use expands into new areas, such as colorectal surgery and hernia repair, it wouldn't surprise me if Intuitive Surgical's sales and profit march considerably higher over the coming decade.

Overwhelmingly, Americans view on medical marijuana has shifted positive, and as a result, over two dozen U.S. states have passed pro-medical marijuana laws that break down barriers to access.

IMAGE SOURCE: GETTY IMAGES.

While no one knows how a new administration in Washington, D.C. may affect marijuana momentum in the short term, the long-term potential for marijuana to gain ground as a viable alternative medicine is big.

GW Pharmaceuticals could be the drugmaker best positioned to profit from a widespread embrace of medical cannabis. The company's been working on marijuana-based medicines since the 1990s, and it could soon launch its first marijuana derived drug in America.

Last year, GW Pharmaceuticals reported trial results from three separate studies showing that a purified formulation of cannabidiol, or CBD, can reduce the number of seizures experienced monthly by patients with tough-to-treat forms of childhood-onset epilepsy. Specifically, GW Pharmaceuticals showed that patients receiving its Epidiolex experienced about 40% fewer seizures than they did before beginning treatment.

The positive efficacy, plus a safety profile that doesn't seem to be raising eyebrows, suggests that Epidiolex could become an important new drug used by doctors to treat patients who don't respond well to existing epilepsy medications. GW Pharmaceuticals estimates that up to one-third of the 2.2 million epilepsy patients living in the U.S. aren't responding adequately to existing medication.

If the FDA green-lights Epidiolex (management plans to submit an application to the regulator soon), then it can be prescribed by doctors nationwide, regardless of whether medical-marijuana laws have been passed in the doctor's state. That's potentially a huge advantage over medical dispensaries, which only market products without the FDA's blessing in states that have passed laws that are friendly to medical marijuana.

GW Pharmaceuticals isn't stopping its marijuana research with epilepsy, either. The company's studying marijuana cannabinoids in other indications, and while results in the past haven't panned out nearly as well as in epilepsy trials, that doesn't mean programs evaluating it in schizophrenia and autism won't bear fruit.

Because I believe that most Americans will continue supporting access to medical marijuana, and that improving perceptions will remove the stigma associated with its use, the future could prove to be very bright for GW Pharmaceuticals shareholders.

Todd Campbell has no position in any stocks mentioned.His clients may have positions in the companies mentioned.The Motley Fool owns shares of and recommends Illumina and Intuitive Surgical. The Motley Fool has a disclosure policy.

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3 Huge Healthcare Trends and How to Invest in Them (Hint: One Is Marijuana) - Motley Fool

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Taking A Second Look – ChicagoNow (blog)

Modern America is obsessed with data. Big data, everyday data, any and all kinds of data.

Some of this obsession can be seen locally in the growing quantum of data under the general rubric of Genetics. Consider: We each have about 19,000 protein-coding genes...our area universities feature centers for genetic medicine that engage more than 300 faculty members in more than 30 different departments...our medical directory already lists scores of genetic specialists...the annual birthrate here averages 44,000 infants with all those billions of genes instantly joining our metropolitan human gene pool.

Mix and match these data and what do we find? One answer would be the many cancer patients & survivors who until recently had no way of knowing that we were born with a genetic time bomb.

At first glance -- by the healthy -- the topic may be of passing interest. But to those whose genetic codes actually translated into diseases, it takes on more immediacy. Could we have been forewarned and thus forearmed? If so, how so? Questions no one asked when medical science did not yet know they existed.

Here in the Chicago area geneticists and ethicists are engaging such questions with increasing intensity. Assuming they can identify and isolate a disease-bearing gene, should the patient be told? Not told? Only the family told? After billions of evolutionary years, humanity has at long indomitable last been gifted with such questions; but like all gifts, neither bearer nor recipient can be quite sure of their consequences.

To stay with this image of a gift, we are reminded of ancient tales about the mixed blessings of other gifts. The Apple in the Bible...Pandora's Box in Greek mythology...Aladdin's Lamp in Arabic mythology...Seth's Chest for the Egyptian God Osiris.

In each tale there is the Before & the After.

Before ~ as in the case of an expectant woman, genetic testing can now help identify chances for cystic fibrosis, muscular dystrophy, hemophilia, sickle cell anemia, and kidney disease. What it cannot identify are the consequences of her choice about her pregnancy. For instance, do I take it upon myself to give birth to a new human being whose destiny might be something magnificent from out of a deformed body?

After ~ as in the case cancer patients, genetic testing can help identify survival rates. What it cannot identify are the consequences of our choice about what do we do with our lives now. For instance with brain, breast or prostate cancer growing, do I tell the one to whom I am betrothed I cannot fulfill my promise to marry you?

Power is a seductive gift most everyone seeks in their lives. Power in the form of strength, of status, or of knowledge. In our century we have succeeded in harnessing vast stores of such power, long foreshadowed by stories from the wise. Theirs, however, was the luxury of envisioning without the burden of choosing.

Many of us now have that remarkable burden. We are only now discovering how to use it.

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Taking A Second Look - ChicagoNow (blog)

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Gene that causes rare disorder, Opitz C syndrome, identified – Science Daily

Gene that causes rare disorder, Opitz C syndrome, identified
Science Daily
A team of researchers has now identified a gene that causes the Opitz C syndrome in the only patient in Catalonia diagnosed with this severe congenital disease. This new scientific advance is a first step to discover the genetic bases of this syndrome ...

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Teen’s Sickle Cell Disease ‘Reversed’ with Groundbreaking Therapy – Reader’s Digest

chairoij/ShutterStockImagine having your spleen removed, undergoing a double hip replacement, and receiving monthly blood transfusions to prevent severe pain attacks, all by the age of 13. That was the life of a teenager in France with sickle cell disease (SCD) until October 2014, when he received experimental gene therapy as part of a clinical study. Now, hes completely off all medications and his SCD is essentially gone, making him the hopeful poster child for the worlds first effective sickle cell disease therapy. (Dont these medical miracles that doctors cant explain.)

Standard treatments were not able to control his SCD symptoms [but] since receiving the stem cell transplant with LentiGlobin, he has been free from severe symptoms and has resumed normal activities, without the need for further transfusions, said study author Marina Cavazzana, MD, PhD, of Necker Hospital in Paris, France, where the trial was conducted, in a news release.

SCD is a inherited blood disorder where sufferers have sickle hemoglobin, an abnormal form of the oxygen-carrying protein which changes the shape of red blood cells (from a flexible disc shape to a rigid crescent one), making it hard for them to pass through blood vessels and often causing blockages that slow or stop the flow of oxygen-rich blood to nearby tissues, causing sudden and severe pain. Sickled red blood cells also die after 10 to 20 days, compared to normal ones which can live up to 120; this can cause the body to have trouble keeping up with red blood cell production, leading to anemia. A stem-cell transplant is currently the only curative option for patients, but fewer than 18 percent of patients are able to find a matching donor.

That is until now. The 13-year-old boy (known as Patient 1204) had bone marrow extracted, which was then genetically altered with the drug LentiGlobin BB305 so that his body made normal, healthy red blood cells instead of the sickle cells it was creating before. After just six months, the proportions of sickled red cells in his blood were significantly lower than those in untreated SCD patients. Now more than 15 months since the treatment, his body is still producing normal red blood cells and he hasnt experience any SCD-related episodes or hospitalizations, according to the study published in the New England Journal of Medicine.

Ive worked in gene therapy for a long time and we make small steps and know theres years more work. But here you have someone who has received gene therapy and has complete clinical remissionthats a huge step forward, Deborah Gill, PhD, of the gene medicine research group at the University of Oxford in England told BBC.

Scientists plan to test the drug on other sickle cell disease patients to see if the results are replicated.

MORE: This Grandmother Beat Cancer in a Groundbreaking 20-Minute Treatment

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