Monthly Archives: March 2017

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

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

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

Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world. A team led by the professors Daniel Grinberg and Susana Balcells, from the Group on Human Molecular Genetics of the University of Barcelona and the Biomedical Research Networking Center of Rare Diseases (CIBERER) 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 which, so far, does not offer treatment possibilities, prenatal diagnosis or genetic counseling.

The new study, published in the journal Scientific Reports, has the participation of John M. Opitz (University of Utah, United States), Giovanni Neri (Catholic University of the Sacred Heart, Italy) and a wide group of experts of the Center for Genomic Regulation (CRG) and the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron (VHIR).

Opitz C syndrome: rare but not invisible

The genetic bases of this ultra-minority disease, described for the first time in 1969 by John M. Opitz, are still unknown. It is generally thought that its origin is caused by the apparition of dominant -maternally silenced- novo mutations. At the moment, the diagnose is clinical and it is based on the symptomatology presented on patients with different degrees (trigonocephaly, learning disability, psychomotor disability, etc.) and which, in lots of cases, coincides with similar minority pathologies such as the syndromes of Schaaf-Yang, Bohring-Opitz and Prader-Willi.

In the new study, the experts described for the first time, the existence of a novo mutation -p.Q638*- located in the gene MAGEL2 of the only diagnosed person with Opitz C syndrome in Catalonia. Identifying this mutation, found in the Prader-Willi Region on chromosome 15, widens the knowledge horizons on genetics and the possibilities for a diagnosis on these rare diseases.

"The p.Q638* mutation, identified in the gene MAGEL2, coincides with the one described concurrently and independently in a patient with Schaaf-Yang syndrome, a new minoritary disease affecting fifty people in the world. The first cases were described on a scientific bibliography in 2013 by the team of Professor Christian Schaaf, from the Baylor College of Medicine, Houston," says Professor Daniel Grinberg, member of the Institute of Biomedicine of the University of Barcelona (IBUB), the Research Institute of Sant Joan de Du (IRSJD) and CIBERER.

"Consequently, from a genetic diagnosis perspective -says DanieL Grinberg- this patient initially diagnosed with Opitz C in Catalonia would correspond to the group of patients with Schaaf-Yang syndrome."

Genetics will define the limits of rare diseases

Identifying the genes that cause a disease is a breakpoint to understand the pathology and set new future therapeutic approaches that improve the quality of life of the patients. In the new study, the teams of the UB and the CRG applied techniques of DNA massive sequencing (exome and genome), a powerful methodology that allows identifying altered genes in each patient.

According to Susana Balcells, tenured lecturer at the UB and also member of IBUB and CIBERER, "what we can see from a clinical symptomatology view in these kinds of diseases which are so hard to study and diagnose, is far from the initial molecular defect that generates the disease."

"All these clinical doubts -continued Balcells- will be solved with genetics, which will define the limits of these rare diseases and will ease the scientific consensus on the diagnosis and genetic causes that create them."

According to Luis Serrano, director of CRG, "projects like this one show the important role of genomics in the future of medicine and the way on which we diagnose and treat diseases. To understand the diseases and offering not only a diagnosis but also approaches to possible treatments is very relevant in minority diseases. It is a satisfaction for the CRG to contribute with our knowledge and advanced technologies in a project that gives hope to a vulnerable collective" concluded the researcher.

Crowdfunding: when society supports scientific research

The members of the Group of Human Molecular Genetics of the University of Barcelona and the CRG are currently in contact with the team of Professor Schaaf and three families of patients diagnosed with Schaaf-Yang syndrome in the Iberian Peninsula.

In December 2026, the first author of the study published in Scientific Reports, Roser Urreitzi, researcher of CIBERER and lecturer at the UB, coordinated the meeting between the experts and the affected families. The meeting took place at the Faculty of Biology of the University of Barcelona and was a new encouragement for the collaboration of researchers and affected families in future projects with the participation of the UB, CRG and CIBERER Biobank, in Valencia. This cooperation has also allowed the three patients to be examined by the same clinical expert: the pediatrician Dr Anna M. Cueto, assistant doctor and clinical geneticist at the Department of Clinical and Molecular Genetics of the University Hospital Vall d'Hebron in Barcelona. This is clearly a new progress in the field of ultra-minority diseases.

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

NEW YORK (GenomeWeb) Before the National Institutes of Health can begin to genetically test participants within its precision medicine initiative, it will have to figure out what results to return, how to minimize reporting false positives, and how to provide counseling to help them navigate the often uncertain and evolving evidence on genetic information.

And the project will have to figure out how to do all this on an unprecedented scale, for a million participants that the All of Us Research Program hopes to enroll over the next four years.

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Precision Medicine Project Mulls How to Return Genetic Test Results to 1M Participants - GenomeWeb