23.04.2012 - (idw) Stiftung Tierrztliche Hochschule Hannover

Hannover Veterinary University Scientists sequenced the complete motilin gene in German Holstein cows Left-sided displacement of the abomasum (LDA) is an economically important disease in Holstein dairy cattle populations all over the world. The bovine abomasum is the equivalent to the stomach in monogastric species and its pathologic displacement is usually preceded by bloating due to reduced gastrointestinal contractions. Over the past 50 years, the incidence of LDA has considerably increased. Despite surgical veterinary treatments, LDA affected cows show a long convalescence.

Scientists of the Institute for Animal Breeding and Genetics at the University of Veterinary Medicine Hannover Foundation in cooperation with the clinic for cattle of Hannover and the Clinic for Ruminants and Swine, Faculty for Veterinary Medicine at the Justus-Liebig-University Giessen, sequenced the complete motilin gene in German Holstein cows. They identified a single nucleotide polymorphism showing significant association with LDA and affecting a transcription factor binding site. An expression study gave evidence of a significantly decreased motilin expression in cows carrying the mutant allele. The study indicates motilin to be involved in the etiopathogenesis of LDA in German Holstein cattle. It provides a first step towards the understanding of the genetics of LDA and may be of use for investigating gastric motility disorders in other species.

Scientific Contact:

Prof. Dr. Ottmar Distl Dr. Stefanie Mmke University of Veterinary Medicine Hannover Institute for Animal Breeding and Genetics Tel.: +49 511 953-8876 ottmar.distl@tiho-hannover.de stefanie.moemke@tiho-hannover.de jQuery(document).ready(function($) { $("fb_share").attr("share_url") = encodeURIComponent(window.location); });

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Genetic test for left-sided displacement of the abomasum (LDA)

SAN DIEGO--(BUSINESS WIRE)--

Pathway Genomics Corporation, a genetic testing laboratory specializing in nutrition and exercise response, inherited disease, prescription drug response and health condition risks, has established a world-leading scientific advisory board. Among the board members are James Fowler, Ph.D., professor of medical genetics at UCSD School of Medicine, Christoph Lange, Ph.D., associate professor of biostatistics at Harvard University School of Public Health, and Nicholas Schork, Ph.D., director of bioinformatics and biostatistics at the Scripps Translational Science Institute.

Additionally, the companys internal computational and bioinformatics team is led by Lixin Zhou, Ph.D., former senior scientist at Illumina and former collaborative bioinformatics investigator at The Institute for Genomic Research, an organization of The J. Craig Venter Institute.

Working with innovators in specific and technical fields helps Pathway bring highly accurate, useful and actionable information to physicians and their patients, said Michael Nova, M.D., Pathway Genomics chief medical officer. Were committed to seeking out this actionable genetic information through computational biology methods, and cloud-based bioinformatics.

An acclaimed behavioral geneticist, James Fowler, Ph.D., is currently a professor of medical genetics at UCSD School of Medicine, and is world-renowned for his breakthrough discoveries in genetics and social networking, behavioral economics, cooperation, and political behavior.

Christoph Lange, Ph.D., is an assistant professor of medicine at Harvard Medical School and an associate professor of biostatistics at Harvard School of Public Health. Langes current research interests fall into the broad areas of statistical genetics and generalized linear models.

Nicholas J. Schork, Ph.D., is a professor at The Scripps Research Institute in the department of molecular and experimental medicine and director of bioinformatics and biostatistics at the Scripps Translational Science Institute. Schorks research focuses are in quantitative human genetics and integrated approaches to complex biological and medical problems. He has published over 350 scientific articles and book chapters analyzing complex, multifactorial traits and diseases.

Pathways scientific advisory board consists of 10 leaders in various fields including behavioral genetics, bioinformatics, biostatistics, endocrinology, human epigenetics, metabolism, nutrigenomics, nutrition, obesity and exercise genetics, oncology, and weight management. To view the companys full scientific advisory board, visit http://www.pathway.com/sab.

About Pathway Genomics

Pathway Genomics owns and operates an on-site genetic testing laboratory that is accredited by the College of American Pathologists (CAP), accredited in accordance with the U.S. Health and Human Services Clinical Laboratory Improvement Amendments (CLIA) of 1988, and licensed by the state of California. Using only a saliva sample, the company incorporates customized and scientifically validated technologies to generate personalized reports, which address a variety of medical issues, including an individuals carrier status for recessive genetic conditions, food metabolism and exercise response, prescription drug response, and propensity to develop certain diseases such as heart disease, type 2 diabetes and cancer. For more information about Pathway Genomics, visit http://www.pathway.com.

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Pathway Genomics Adds Prominent Bioinformatics Experts to Scientific Advisory Board

Newswise ATLANTA, Ga. Thomas R. Terrell, MD presented Prospective Cohort Study of the Association of Genetic Polymorphisms and Concussion Risk and Postconcussion Neurocognitive Deficits in College Athletes at the 21st American Medical Society for Sports Medicine Annual Meeting in Atlanta, Ga. on April 23, 2012.

A multi-center prospective cohort study of over 3,200 college and high school athletes was designed to look at the association of genetic polymorphisms with risk of acute concussion and for an associative link with longer duration of symptoms. Following analysis trying to link certain genetic polymorpisms, those evaluated did not show an association with prospective concussions, although some association was found in a pooled analysis of self-reported and prospective concussions.

Dr. Terrell, a two-time AMSSM Foundation Research Award winner, commented, Although we did not find an association of these genetic factors in association prospectively with concussions, the next segment of our research is to evaluate other genetic factors, particularly for associations with severe or recurrent concussions. He was optimistic about possible associations and said, As we look at further data and expand our numbers of concussions included in the study, part of the Tau gene and other genetic polymorphisms have a link in explaining neurocognitive recovery

The AMSSM annual conference features lectures and research addressing the most challenging topics in sports medicine today including prevention of sudden death, cardiovascular issues in athletes, concussion, biologic therapies, and other controversies facing the field of sports medicine.

More than 1,200 sports medicine physicians from across the United States and 12 countries around the world are attending the meeting.

Dr. Terrell is an Associate Professor at the University of Tennessee Graduate School of Medicine and holds a Certificate of Added Qualification in Sports Medicine.

The AMSSM is a multi-disciplinary organization of sports medicine physicians whose members are dedicated to education, research, advocacy, and the care of athletes of all ages. Founded in 1991, the AMSSM is now comprised of more than 2,000 sports medicine physicians whose goal is to provide a link between the rapidly expanding core of knowledge related to sports medicine and its application to patients in a clinical setting.

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Genetic Associations with Concussions Discussed by AMSSM Researcher

Editor's Choice Academic Journal Main Category: Cardiovascular / Cardiology Also Included In: Heart Disease;Genetics Article Date: 30 Mar 2012 - 8:00 PDT

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Following PCI, the standard care for patients commonly consists of aspirin and clopidogrel to reduce the risk of blood clot formation, however, this dual antiplatelet therapy results in many patients becoming vulnerable to major adverse cardiovascular events.

This persistent vulnerability is linked to elevated on-treatment platelet reactivity, which can lead to a sudden blockage in the stents that can cause heart attacks or death. The characteristics of elevated on-treatment platelet reactivity are inadequate inhibition of the platelet PsY12 receptor following clopidogrel treatment.

According to scientists, numerous clinical variables have been implicated, however, the strongest predictor is the loss-of-function CYP2C19*2 allele (rs4244285), which is a common genetic variant that occurs in almost 30% of western Europeans and in about 50% of Asians.

Two unique P2Y12 inhibitors are prasugrel and ticagrelor, which compared with clopidogrel provide a more potent platelet inhibition. Although both drugs reduce major adverse cardiovascular events following acute coronary syndrome, they are also linked to higher complications in terms of bleeding. The researchers point out that retrospective genetic studies demonstrated that both, prasugrel and ticagrelor remained unaffected by the CYP2C19*2 allele. According to the authors, personalization of dual antiplatelet therapy after PCI could successfully minimize major adverse cardiovascular and adverse bleeding events if CYP2C19*2 carrier status could be identified in the future.

Spartan Biosciences in Ottawa, ON, Canada, has developed Spartan RX CYP2C19 as a point-of-care genetic test for the CYP2C19*2 allele that is performed with a buccal swab, which enables health-care personnel with no previous training in genetic laboratory techniques to undertake genotyping at the patient's bedside.

The researchers decided to evaluate the clinical feasibility and pharmacodynamic efficacy of personalized dual antiplatelet therapy in patients who receive PCI treatment for acute coronary syndrome and stable coronary artery disease.

The standard care for these patients is a medical regimen of aspirin and clopidogrel, however, the new genetic test means that physicians can personalize the patient's therapy and select whether they should opt to administer a more potent anti-platelet drug like prasugrel to those patients who have a high risk of failing treatment with clopidogrel.

Read more:

Using Antiplatelet Therapy After Coronary Interventions - Study

In case you haven't noticed. I dropped off the blog radar for a while. I had some growing to do of the practice and some streamlining. I read Daniel Vorhaus JD's post with great interest this week. It describes clinical utility of 23andMe testing......

Ok,

Ok, so enough with the acronyms.....

I am going to read this article for the seventh time and get back to you this week.

Yes, Yes.....

Dan Vorhaus points out the Plan B for 23andSerge!

Personally I love the irony of naming it "Plan B"

MSRP 499, but yours for the low, low price of 99 USD.

QVC, here we come!!!!

From the article:

Researchers administered a gene-based predisposition test that incorporates 20 genetic markers associated with smoking-related lung damage and propensity to lung cancer along with clinical factors including age, family history and diagnosis of chronic obstructive pulmonary disease to derive a risk score on a 1 to 12 scale with higher scores correlating with higher risk.

Ok, new score with 20 markers, family history and age and clinical data....sounds reasonable. Has anyone else validated this tool????

Ahem. Crickets.....

“At scores of 6 or more … only 25 percent of otherwise eligible smokers would be screened but over half of lung cancers would potentially be detected, many in a treatable stage,” concluded Young and colleagues, who suggested that increasing the detection rate of lung cancer per number of patients screened could improve the cost-effectiveness of CT screening.

Ok, so did you get the jump? Did you catch it? "Who Suggested"

This guy who designed a genetic panel AND NEVER TESTED IT IN CONJUNCTION WITH CT CHEST SCREENING, is suggesting that using the test could increase the cost effectiveness of CT Screening, without one single solitary IOTA or shred of evidence of this.

This would be the same Dr. Young who found that genetic testing for a smoking cessation program likely doesn't have cost effectiveness or at best is uncertain.

Last year they were still researching this panel

Yet Respiragene is being held up as a great test!

One word that makes me suspicious is the word "Testamonials"

That word alone reminds me of the time I was bamboozled into going to multi level marketing events for proton pills and the like. You know, they all had lots of "Research" behind them.

Put simply, we do not know if gene screening PRIOR to CT Chest screening for lung cancer does any of the following things

1. Make CT Screening more cost effective

2. Personalizes medicine, targeting radiation to only those who need the test

3. Improves outcomes and detection rates of lung cancer.

That research is not available today. Nor will it be in one year.

My Advice, hold off on this one for now.

The Sherpa Says: Parroting an esteemed researchers OPINION as if it were scientific fact is a great way to get yourself in trouble and an even greater way to confuse the community! But it is the best way to get a test sold.

How do you face life as a 22 year old if you carry a genetic variant for an incurable illness that will most likely strike in middle age?

That's right,

Amy Harmon is hosting a fantastic course that will be starting November 15th. You better hurry up and register because space is limited and closing on the 14th of November.

What will be covered?

The course will have weekly live online sessions with the instructor as well as self-paced lessons filled with original content covering the weekly topics. All live sessions and course material can be accessed directly within the online course.

Prenatal testing can go into deep detail about an unborn baby’s prospects for the future. How much of this do we want to know? To share?

These questions and more will be addressed. If there is one thing I know. Amy is certainly a fantastic teacher, educator, and discussion leader!

I do miss conversations like those with her!

You too can have that kind of expertise. Register before November 14th!

I am certain you will enjoy this set of topics and have directed many people this way already.

The Sherpa Says: Family history picks up life threatening disease, DTCG tests probably not so much. That being said, what's the ethical quandry with either? Ask Amy and find out!

Here are the top ten reasons why in its current state, direct to consumer or otherwise, genomic testing for cardiovascular disease risk is dead in the water

1. Family History Risk paints a far better picture and IT IS FREE

2. Reynolds and Framingham risk paint a more accurate picture

3. An independent panel has reviewed 58 variants, 29 genes, and gave the thumbs down.

4. The highest increased risk from any of these tests is 30%, Fam Hx can be as high as 500%

5. Kif6 was just shot down as a useful marker.

6. Clinical Utility has not been evaluated in ANY of these tests.

7. Spit Parties don't lower cholesterol

8. The FDA is hunting down these type of crazy claims!

9 . Topol's heart attack gene didn't pan out, why would these?

10. A recent 23 gene panel failed to make the grade as well.

Let me be crystal clear.

I am glad that the number one reason for ordering a DTCG test was curiosity and not true medical concern in the "early adopters"

But I am concerned that may not be the case for the next wave. I am concerned they will take these genetic tea leaves and use them.

The problem, most of these tests are disproven or will be in the next couple of years.

Loose associations with small increased risks sounds a lot like fortune telling or phrenology. Or hell, even birth order....

Someday we will have good predictive models, 10-15 years from now. But NOT Now! Do you hear that VC country, SV, NYC, Hedgies?

10 year exit strategy. Not 2 not 8. So stop hyping this bull$h!t and go invest in Gold or Commodities or something for the love of god!

The Sherpa Says: Did you hear the one about the research geneticist? He keeps telling his wife how great their sex life WILL BE! Someday we will have this tool, let's try not to burn out and cynicize the public yet.....HT Francis Collins

Yes,

Ok,

As the FDA debates what they should do, Barbara Evans at the University of Houston Law School and Amy L. McGuire of the Center for Medical Ethics and Health Policy at Baylor College of Medicine in Houston, also includes, Canadian legal expert Timothy Caulfield and Wylie Burke, M.D., of the University of Washington School of Medicine post some guidelines for regulation of DTCG/LDT genetic testing.

I love this sort of handicapping.

You have absolutely brilliant people posing ideas for regulations. I have read a ton. There are those from industry insiders, Ones from industry "Advisors", Ones from politicians who receive funding from industry, Ones from academic centers that do LDT testing. Ones from bioethicists...

But I have paid attention to the mixed group that includes pragmatist Wylie Burke and Barb Evans

In an article I just read from Science published October 8th. They propose rules for DTCG, but I am certain they also would work for LDT.

What they propose is a "sliding scale of potential harm"

Which is sort of what I had been saying for years, which perhaps is why it rings true.

If this is for earwax type, let it go to market, if it is for medically related decision making, probably needs some regulation.

The proponents for a wild west DTCG (WWDTCG), which BTW includes a "registry" say
"Well, there is no proof of harm or risk"

I say, well, this is not about psychologic risk.

Instead, it is about medically actionable risk.

I say this because recently, Kif6 testing has fallen into question, despite a company promoting these tests to physicians.

The test is marketed as a "Statin response" genetic test.

Can you imagine how many people were started on statins? Well, 250,000 tests had been ordered. Even if 10% were started it would be nearly as many people as DCTG 23andMe have tested.

The real problem here: Pharmacogenomics tests are not something you hide, you ask your doctor to use these results. Unless you are a doctor, you can't use these results to dose medications.......

That is a real risk. Despite what WWDTCG proponents say.

Another risk, BRCA testing. I cringe at the thought that a doctor would use 23andMe results and only those results to infer carrier status of BRCA 1/2
The same goes for CF carrier status.

These DTCG medical tests aren't recreational. These companies added these tests because NO ONE wanted to pay hundreds, hell thousands of dollars to find out these risks.....

In a business decision, they fell short of looking at the medical risks.

So yes, a sliding scale of regulation is likely coming. But not because of Wylie, because of the FDA.

It is obvious. Again, medical testing will be regulated as medical. Ear Wax as ear wax. Will LDT be forced to go through pre-market review? Probably not if they can only be ordered by licensed professionals.....

It's not a form a rent seeking, it is a form of guidance and protection for consumers. That's why physicians are licensed and malpractice covered.

Yes, yes. Someday everyone will have these genomes done and everyone will be educated enough to know what they mean. And all humans will have medical education and we can replace the oligarchy of physicians and the tyrannical healthcare system once and for all........

But until that day, we will have to rely on trained professionals who don't have their retirements tied to their company's new genetic test......

The Sherpa Says: Handicapping of the FDA by the Sherpa. If it has any medical utility it will be regulated as either Class II or III. If only ordered via physician it will more likely be Class II. If not, will need Class III.

The Sherpa Says: If 2008 was the year of the GWAS, will 2011 be the year of the overturned GWAS?

I have to tell you, at first I couldn't answer. It was a great question. Do a full third of people have that severe failure?

I have a lot of friends and readers who have emailed me over the month.

The recurring comments: "Has the DTCG field run you off of your blog?"

The answer: "Uh No"

Why I have I stopped blogging so much? For multiple reasons.

1. DTCG has been put on the Radar of the FDA and Government. I have nothing more to say about that.
2. Journalists and Genomics aficionados have been correctly pointing out the hype behind some tests. Most notably lately with the ADHD stuff, which BTW should not have been put out there in the press....Maybe, I need to blog more.....
3. My practice and patients have really taken up my time. I am working to apply personalized medicine daily. Because that is what is needed. We need to show the public and the press how it is done on a daily basis.

I will be back soon, to dissect shotty science and poor clinical studies. But for now, our boots are on the ground and we are climbing the mountain....

See you soon!