WebMD News from HealthDay

By Amy Norton

HealthDay Reporter

THURSDAY, Feb. 21 (HealthDay News) -- When it comes to treating heart failure, the ultimate hope is to develop a therapy that repairs the damaged heart muscle.

Now, an early study hints at a way to do that by harnessing the body's natural capacity for repair.

Heart failure is a chronic, progressive condition where the heart cannot pump blood efficiently enough to meet the body's needs, which leads to problems like fatigue, breathlessness and swelling in the legs and feet. Most often, it arises after a heart attack leaves heart muscle damaged and scarred.

In the new study, researchers were able to use gene therapy to modestly improve symptoms in 17 patients with stage III heart failure -- where the disease is advanced enough that even routine daily tasks become difficult.

What is novel about the tactic, the researchers said, is that the gene therapy is designed to attract the body's own stem cells to the part of the heart muscle that's damaged. The hope is that the stem cells will then get some repair work done.

The findings, published Feb. 21 in the journal Circulation Research, are preliminary, and much more research needs to be done.

"This is a proof-of-concept study," explained lead researcher Dr. Marc Penn, a professor at Northeast Ohio Medical University in Rootstown, and director of research at Summa Cardiovascular Institute in Akron. But Penn and other heart failure experts said they were cautiously optimistic about the therapy's potential for at least some patients.

View original post here:
Gene Therapy Shows Early Promise for Heart Failure

Recommendation and review posted by Bethany Smith

SAN RAFAEL, Calif., Feb. 21, 2013 (GLOBE NEWSWIRE) -- BioMarin Pharmaceutical Inc. (BMRN) announced today that it has licensed a Factor VIII gene therapy program for hemophilia A from University College London (UCL) and St. Jude Children's Research Hospital. The company expects to select a development candidate this year, initiate and complete IND-enabling toxicology studies next year and initiate proof of concept human studies by the end of 2014. The license and commitment to support the research program was made possible by UCL Business, UCL's wholly-owned technology transfer company, working with Professor Amit Nathwani of the UCL Cancer Institute.

"Gene therapy is emerging as a powerful and viable way to treat genetic disorders and is complementary to our current suite of commercial products and research programs," said Jean-Jacques Bienaime, Chief Executive Officer of BioMarin. "Hemophilia is an attractive target for gene therapy as factor levels in the blood serve as good biomarkers, relatively low factor levels are required for a clinically important benefit in severe patients and the current standard of care of intravenous infusions three times a week is quite onerous. We remain committed to maintaining a rich pipeline with the goal of filing an IND every twelve to eighteen months."

Mr. Cengiz Tarhan, Managing Director of UCL Business said, "This is an excellent partnership for UCL Business, which combines the world class translational research strengths of Professor Nathwani and his team with the significant development and commercialization capabilities of BioMarin to progress this ground breaking therapy for hemophilia A."

Professor Stephen Caddick, Vice-Provost (Enterprise) at University College London added, "UCL and BioMarin each bring distinct strengths to the partnership. UCL is a world leader in the biomedical sciences, with an unremitting commitment to outstanding research and translation into healthcare benefits for patients. We welcome this partnership which will continue to build on the excellence of our research to fully explore the potential of gene therapy as a life-saving treatment for people with hemophilia."

Andrew Davidoff, M.D., Chair, Surgery, St. Jude Children's Research Hospital, added, "We are pleased that our research with UCL on gene therapy for hemophilia has led to the development of a potential therapeutic tool for treating this devastating disease. This licensing agreement underscores St. Jude's commitment to rapidly translating our research into effective clinical interventions."

About Hemophilia A

The current market for hemophilia A products is about $6.0 billion worldwide. There are approximately 90,000 patients in territories where BioMarin has commercial operations and an annual incidence of about 400 new patients in the U.S. The standard of care for the 60 percent of hemophilia A patients who are severe is a prophylactic regimen of IV infusions three times per week. Even with the likely prospect of less frequently dosed products coming to the market, feedback from thought leaders indicates that significant unmet need will remain as factor replacement therapy will inevitably leave patients vulnerable to bleeding events. Many patients on factor replacement therapy still have bleeding events and experience debilitating damage to joints as a result of chronically low factor levels.

About BioMarin

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. The company's product portfolio comprises four approved products and multiple clinical and pre-clinical product candidates. Approved products include Naglazyme(R) (galsulfase) for mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin; Aldurazyme(R) (laronidase) for mucopolysaccharidosis I (MPS I), a product which BioMarin developed through a 50/50 joint venture with Genzyme Corporation; Kuvan(R) (sapropterin dihydrochloride) Tablets, for phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of Darmstadt, Germany; and Firdapse(TM) (amifampridine), which has been approved by the European Commission for the treatment of Lambert Eaton Myasthenic Syndrome (LEMS). Product candidates include BMN-110 (N-acetylgalactosamine 6-sulfatase), formally referred to as GALNS, which successfully completed Phase III clinical development for the treatment of MPS IVA, PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase), which is currently in Phase II clinical development for the treatment of PKU, BMN-701, a novel fusion protein of insulin-like growth factor 2 and acid alpha glucosidase (IGF2-GAA), which is currently in Phase I/II clinical development for the treatment of Pompe disease, BMN-673, a poly ADP-ribose polymerase (PARP) inhibitor, which is currently in Phase I/II clinical development for the treatment of genetically-defined cancers, and BMN-111, a modified C-natriuretic peptide, which is currently in Phase I clinical development for the treatment of achondroplasia. For additional information, please visit http://www.BMRN.com. Information on BioMarin's website is not incorporated by reference into this press release.

The BioMarin Pharmaceutical Inc. logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=11419

Excerpt from:
BioMarin Licenses Factor VIII Gene Therapy Program for Hemophilia A From University College London and St. Jude ...

Recommendation and review posted by Bethany Smith

Goals and Barriers of Personalized Medicine, with Genomic Health #39;s Kim Popovits
The need for personalized cancer treatment for breast cancer and colon cancer patients is the topic of this interview with Kim Popovits, Chairman, CEO and President at Genomic Health, Inc. Genomic Health is a global healthcare company that provides actionable genomic information to personalize cancer treatment decisions. For more information, visit: http://www.genomichealth.com http://www.oncotypedx.com

By: GenomicHealth

See the article here:
Goals and Barriers of Personalized Medicine, with Genomic Health's Kim Popovits - Video

Recommendation and review posted by sam

Zhu #39;s Neuro Acupuncture for Spinal Cord Injury-Emily #39;s story part 1
Emily suffered a spinal cord injury on July 20, 2010 at T-6 level. She started treatment at Zhu #39;s Neuro Acupuncture on May 31, 2012, almost 2 years after her injury. Since starting treatment at Zhu #39;s Neuro Acupuncture Emily has gained more sensation of bowel/bladder and can sit independently. Contact us at (408)885-1288 or visit our website at http://www.scalpacupuncture.org

By: MOYEE95110

Read more from the original source:
Zhu's Neuro Acupuncture for Spinal Cord Injury-Emily's story part 1 - Video

Recommendation and review posted by sam

Spinal Cord Injury Pseudo

By: Maiken Nedergaard

Read the original:
Spinal Cord Injury Pseudo - Video

Recommendation and review posted by sam

Spinal Cord Injury ATP

By: Maiken Nedergaard

Read the original post:
Spinal Cord Injury ATP - Video

Recommendation and review posted by sam

Panel to call for steps on regenerative medicine

By: nhknewsupdate

Go here to read the rest:
Panel to call for steps on regenerative medicine - Video

Recommendation and review posted by sam

Groove Theory - Keep Trying (DJ Doggtime Blend) B/W Cell Therapy)
Dope blend from a 1995 classic mixtape "Best of the Best Volume 1" by DJ Billy Bill.

By: GrooThePerverted

Here is the original post:
Groove Theory - Keep Trying (DJ Doggtime Blend) B/W Cell Therapy) - Video

Recommendation and review posted by Bethany Smith

Public release date: 21-Feb-2013 [ | E-mail | Share ]

Contact: Sooike Stoops sooike.stoops@vib.be 32-924-46611 VIB (the Flanders Institute for Biotechnology)

Cell therapy is a promising alternative to tissue and organ transplantation for diseases that are caused by death or poor functioning of cells. Considering the ethical discussions surrounding human embryonic stem cells, a lot is expected of the so-called 'induced pluripotent stem cells' (iPS cells). However, before this technique can be applied effectively, a lot of research is required into the safety and efficacy of such iPS cells. VIB scientists associated to the UGent have developed a mouse model that can advance this research to the next step.

Lieven Haenebalcke (VIB/UGent): "iPS cells have enormous therapeutic potential, but require more thorough testing before they can be used for such purposes. Using our new mouse model, we can study which mechanisms determine the identity of a cell. This knowledge is essential before we can use cell therapy for regenerative medicine."

Jody Haigh (VIB/UGent): "If we want to give cell therapy a future, then we must continue this type of research and invest in the further development of such technologies. This will result in an improved insight into cellular identity and in the long term safer options of applying iPS cells or cells derived from iPS cells in clinical studies."

Cell therapy replacing cells to provide a cure

Cell therapy is the replacement of lost or poorly functioning cells in patients. For example, such cell therapies could be used to repair the heart muscle after a heart attack, joints affected by arthritis, the pancreas in diabetes or the spine in certain forms of paralysis. This requires cells that are able to multiply in the laboratory and that can be converted to healthy cells of the desired cell type. Human embryonic stem cells meet these criteria, but they are ethically controversial.

iPS cells a promising alternative to embryonic stem cells

Shinya Yamanaka recently developed a fairly simple method to reprogram differentiated cells such as skin cells back to stem cells, so-called "induced pluripotent stem cells" (iPS cells). This earned him the Nobel Prize for Medicine in 2012 (shared with John Gurdon). These iPS cells can be generated using only 4 "reprogramming factors".

As is the case with embryonic stem cells, these iPS cells can be used to produce other cell types, such as heart muscle cells or nerve cells. They can also be cultured indefinitely and there are no ethical objections as they are not obtained from human embryos left over after IVF, but from adult individuals. Furthermore, iPS cells are obtained from the patient and this reduces the risk of rejection during therapeutic applications.

See original here:
Cell therapy a little more concrete thanks to VIB research

Recommendation and review posted by Bethany Smith

HOUSTON, Feb. 20, 2013 /PRNewswire/ --FamilyTreeDNA.com, the genetic genealogy arm of Gene By Gene, Ltd., is dramatically lowering the price of one of its basic Y-DNA tests to $39, making it the lowest-cost DNA test available on the market, in order to take a major step toward universal access by individuals to their personal genetic data.

By dropping the price of its basic Y-DNA test by 60 percent to $39, Family Tree DNA -- the world's largest processor of Y-DNA and full mitochondrial sequences -- is working to eliminate cost as a barrier to individuals introducing themselves to the insights and knowledge to be gained from personal genetic and genomic research.

Family Tree DNA pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago, and has processed more than 5 million discrete tests for more than 700,000 individuals and organizations since it introduced its Y-DNA test in 2000.

The test investigates specific Y-DNA locations for males that provide individuals with their haplogroup, or the deep ancestral origin of the paternal line. In addition, it can indicate if different individuals are likely to share a common male line.

Gene By Gene is also working to lower the cost of Family Tree DNA's comparable mtDNA test, which would be applicable to both females and males and provides data on the direct maternal line. The company expects to unveil new pricing for this test in spring 2013.

As the sponsor DNA Workshop of "Who Do You Think You Are - Live" in London this February, Family Tree DNA expects that the reduced price test will add a great number of individuals to its already large database the largest of its kind in the world.

"We believe the first step to unearthing your personal and family history is to better understand your DNA," Gene By Gene President Bennett Greenspan said. "That's why we are continuously investing in new technology and experienced scientists at our Genomics Research Center, enabling us to conduct tests more accurately, efficiently and at lower prices. Our $39 Y-DNA test is just the latest example of how we are working to help individuals gain access to their genetic data."

Customer InquiriesIndividuals interested in Family Tree DNA's $39 Y-DNA test, or any of its ancestral testing products, can visit http://www.familytreedna.com for more information.

About Gene By Gene, Ltd. Founded in 2000, Gene By Gene, Ltd. provides reliable DNA testing to a wide range of consumer and institutional customers through its four divisions focusing on ancestry, health, research and paternity. Gene By Gene provides DNA tests through its Family Tree DNA division, which pioneered the concept of direct-to-consumer testing in the field of genetic genealogy more than a decade ago. Gene by Gene is CLIA registered and through its clinical-health division DNA Traits offers regulated diagnostic tests. DNA DTC is the Research Use Only (RUO) division serving both direct-to-consumer and institutional clients worldwide. Gene By Gene offers AABB certified relationship tests through its paternity testing division, DNA Findings. The privately held company is headquartered in Houston, which is also home to its state-of-the-art Genomics Research Center.

Media Contact:Kate Croft for Gene By Gene, Ltd. Casteel Schoenborn 888-609-8351 croft@csirfirm.com

Read more here:
Family Tree DNA Unveils $39 DNA Test in Major Step Toward Universal Access by Individuals to their Own Genetic Data

Recommendation and review posted by Bethany Smith

ROCKVILLE, MD--(Marketwire - Feb 21, 2013) - MarketResearch.com has announced the addition of the market research report "Complete 2012-13 Induced Pluripotent Stem Cell Industry Report" to their product offering.

iPSCs are adult stem cells that have been transformed into embryotic-like stem cells through the manipulation of gene expression and similar methods. Despite some initial concerns, induced pluripotent stem cells (iPSC) are now sold by more than half (53.4%) of U.S. research product companies and 38.7% of research product companies worldwide.

"It is clear that iPSC products are in high demand within the scientific community. Currently, it is difficult for stem cell research product suppliers, like BD BioSciences, Life Technologies, and others, to know what products iPSC scientists will demand in 2013 and beyond. The needs of scientists are constantly changing, so this market intelligence report reveals profitable opportunities for providers of iPSC research products to pursue," says BioInformant.

For the past five decades, stem cell research has provided insights to the inner workings of the body and cell regeneration. "Therapeutic applications of iPSCs represent the future of medicine," says BioInformant. The scientific community believes that one day stem cell research will assist in finding viable treatments for crippling diseases such as Parkinson's, Alzheimer's, spinal cord injuries and more.

For more information, visit http://www.marketresearch.com/land/product.asp?productid=7242167&progid=85189

Follow us on Facebook http://www.facebook.com/marketresearchdotcom Follow us on Twitter http://www.twitter.com/marketresearch_

About BioInformant WorldWide, LLC

BioInformant Worldwide, LLCis a global leader in stem cell industry data.As a specialty research company, BioInformant uses technology to track and identify profitable opportunities in stem cell product markets and provides this data to clients that prioritize industry dominance.

About MarketResearch.com

MarketResearch.com is the leading provider of global market intelligence products and services. With research reports from more than 720 top consulting and advisory firms, MarketResearch.com offers instant online access to the world's most extensive database of expert insights on global industries, companies, products, and trends. Moreover, MarketResearch.com's Research Specialists have in-depth knowledge of the publishers and the various types of reports in their respective industries and are ready to provide research assistance. For more information, call Cindy Frei at 240.747.3014 or visit http://www.marketresearch.com.

More here:
Market Research Report -- Therapeutic Applications of Induced Pluripotent Stem Cells Represent the Future of Medicine

Recommendation and review posted by Bethany Smith

Feb. 20, 2013 A study combining genetic data with brain imaging, designed to identify genes associated with the amyloid plaque deposits found in Alzheimer's disease patients, has not only identified the APOE gene -- long associated with development of Alzheimer's -- but has uncovered an association with a second gene, called BCHE.

A national research team, led by scientists at the Indiana University School of Medicine, reported the results of the study in an article in Molecular Psychiatry posted online February 19. The study is believed to be the first genome-wide association study of plaque deposits using a specialized PET scan tracer that binds to amyloid.

The research also is believed to be the first to implicate variations in the BCHE gene in plaque deposits visualized in living individuals who have been diagnosed with Alzheimer's disease or are at-risk for developing the disease. The enzyme coded by the BCHE gene has previously been studied in post-mortem brain tissue and is known to be found in plaques.

"The findings could recharge research efforts studying the molecular pathways contributing to amyloid deposits in the brain as Alzheimer's disease develops and affects learning and memory," said Vijay K. Ramanan, the paper's first author and an M.D./Ph.D. student at the IU School of Medicine.

The BCHE gene finding "brings together two of the major hypotheses about the development of Alzheimer's disease," said Andrew J. Saykin, Psy.D., Raymond C. Beeler Professor of Radiology and Imaging Sciences at IU and principal investigator for the genetics core of the Alzheimer's Disease Neuroimaging Initiative.

Scientists have long pointed to the loss of an important brain neurotransmitter, acetylcholine, which is depleted early in the development of the disease, as a key aspect of the loss of memory related neurons. The BCHE gene is responsible for an enzyme that breaks down acetylcholine in the brain. The other major Alzheimer's hypothesis holds that the development of the amyloid plaques is the primary cause of the disease's debilitating symptoms. As it turns out, the enzyme for which the BCHE gene codes is also found in significant quantities in those plaques.

"This study is connecting two of the biggest Alzheimer's dots," said Dr. Saykin, director of the Indiana Alzheimer Disease Center and the IU Center for Neuroimaging at the IU Health Neuroscience Center.

"The finding that BCHE gene variant predicts the extent of plaque deposit in PET scans among people at risk for Alzheimer's disease is likely to reinvigorate research into drugs that could modify the disease by affecting the BCHE enzyme or its metabolic pathway," he said. Some existing drugs inhibit this enzyme, but it is unclear whether this influences plaque deposits.

Overall, the results appear to offer scientists new potential targets for drugs to slow, reverse or even prevent the disease. Alzheimer's disease affects an estimated 5.4 million Americans and has proven resistant to treatments that do more than temporarily slow the worsening of symptoms.

Amyloid plaque deposits build up abnormally in the brains of Alzheimer's patients and are believed to play an important role in the memory loss and other problems that plague patients.

See the original post:
Genome-wide imaging study identifies new gene associated with Alzheimer's plaques

Recommendation and review posted by Bethany Smith

Washington, Feb 21 (IANS) A study combining genetic data with brain imaging has not only identified the APOE gene, tied to the development of Alzheimer's, but has uncovered its link with another gene, called BCHE.

The enzyme coded by the BCHE gene has previously been studied in post-mortem brain tissue and is known to be found in plaques (deposits), which cause Alzheimer's.

These findings, based on PET scans of 555 participants in the Alzheimer's Disease Neuroimaging Initiative, could open the way to more effective drugs for Alzheimer's or slow, reverse or even prevent the disease, the journal Molecular Psychiatry reports.

Amyloid plaque deposits build up abnormally in the brains of Alzheimer's patients and are believed to play an important role in memory loss and other problems that plague patients.

"The findings could recharge research efforts studying the molecular pathways contributing to amyloid deposits in the brain as Alzheimer's disease develops and affects learning and memory," said Vijay K. Ramanan, study co-author and doctoral student from Indiana University School of Medicine.

The BCHE gene finding "brings together two of the major hypotheses about the development of Alzheimer's disease," said Andrew J. Saykin, professor of radiology and imaging sciences at Indiana and principal investigator for the genetics core of the Alzheimer's Disease Neuroimaging Initiative.

"This study is connecting two of the biggest Alzheimer's dots," said Saykin, director of the Indiana Alzheimer Disease Centre, according to an Indiana statement.

Original post:
Gene linked with Alzheimer's plaques found

Recommendation and review posted by Bethany Smith

According to a recent study by a team of Harvard researchers from across the University, specialists in thermoregulation, dermatologists, and hair experts have one thing in common: the EDAR gene.

Using a tool she has developed over the past several years, Pardis C. Sabeti, one of the lead researchers of the study and an associate professor of organismic and evolutionary biology, was able to identify EDAR as an evolutionary advantageous gene. With this study Sabeti and her co-workers sought to understand what makes the gene so advantageous.

To clearly identify its effects on physical traits, Yana G. Kamberov, a research fellow in genetics at Harvard Medical School, isolated and implanted the single gene into laboratory mice. The resulting mice exhibited not only thicker hair and altered teeth shape but also an unexpected increase in sweat glands and diminished mammary gland sizes.

EDARs importance to sweat glands was further confirmed by analyzing the genomes of living humans of Han Chinese descent. Those with a similarly high frequency of sweat glands also possessed EDAR.

The ability to sweat bears great evolutionary significance as it is one of the characteristics that distinguishes humans from other animals. Now that the researchers have established causality between the EDAR gene and its many physical manifestations, they can begin to investigate whether sweatingor one of the other many traits expressed by the genemakes it evolutionarily favored.

The genes many roles have brought together a diverse range of specialists to collaborate on this project. From specialists in thermoregulationhow the body maintains its optimum temperatureto dermatologists to hair experts, each scientist offers a unique perspective on why we are the way we are, Sabeti said.

Because I work on hair, I spend a lot of time talking to cosmetic companies, said Bruce A. Morgan, an associate professor of dermatology at Harvard Medical School. When this gene first came outa gene that will make your hair thickerall the cosmetic companies thought, Oh, theres the secret to life.

Eventually, Sabeti hopes to apply her gene-identifying technology to epidemiology in an attempt to correlate certain genes with increased odds of immunity or disease-resistance. She has located over 400 candidates for evolutionarily favored genes that will potentially shed light on ways to prevent or treat illnesses.

Anything thats been critical for our survival in the past may unlock mysteries of how to keep human survival going forward, Sabeti said.

Staff writer Jessica A. Barzilay can be reached at jessicabarzilay@college.harvard.edu. Follow her on Twitter @jessicabarzilay.

See more here:
Research Begins to Explore What Makes EDAR Gene Advantageous

Recommendation and review posted by Bethany Smith

London, February 21 (ANI): A research team including an Indian origin has identified a new gene associated with the amyloid plaque deposits found in Alzheimer's disease patients.

In their study that combine genetic data with brain imaging, they have not only identified the APOE gene-long associated with development of Alzheimer's-but also uncovered an association with a second gene, called BCHE.

The study, led by scientists at the Indiana University School of Medicine, is believed to be the first genome-wide association study of plaque deposits using a specialized PET scan tracer that binds to amyloid.

The research also is believed to be the first to implicate variations in the BCHE gene in plaque deposits visualized in living individuals who have been diagnosed with Alzheimer's disease or are at-risk for developing the disease. The enzyme coded by the BCHE gene has previously been studied in post-mortem brain tissue and is known to be found in plaques.

"The findings could recharge research efforts studying the molecular pathways contributing to amyloid deposits in the brain as Alzheimer's disease develops and affects learning and memory," said Vijay K. Ramanan, the paper's first author and an M.D./Ph.D. student at the IU School of Medicine.

The BCHE gene finding "brings together two of the major hypotheses about the development of Alzheimer's disease," said Andrew J. Saykin, Psy.D., Raymond C. Beeler Professor of Radiology and Imaging Sciences at IU and principal investigator for the genetics core of the Alzheimer's Disease Neuroimaging Initiative.

Scientists have long pointed to the loss of an important brain neurotransmitter, acetylcholine, which is depleted early in the development of the disease, as a key aspect of the loss of memory related neurons.

The BCHE gene is responsible for an enzyme that breaks down acetylcholine in the brain. The other major Alzheimer's hypothesis holds that the development of the amyloid plaques is the primary cause of the disease's debilitating symptoms. As it turns out, the enzyme for which the BCHE gene codes is also found in significant quantities in those plaques.

"This study is connecting two of the biggest Alzheimer's dots," said Dr. Saykin, director of the Indiana Alzheimer Disease Center and the IU Center for Neuroimaging at the IU Health Neuroscience Center.

"The finding that BCHE gene variant predicts the extent of plaque deposit in PET scans among people at risk for Alzheimer's disease is likely to reinvigorate research into drugs that could modify the disease by affecting the BCHE enzyme or its metabolic pathway," he said.

Here is the original post:
Second gene associated with Alzheimer's plaques identified

Recommendation and review posted by Bethany Smith

Public release date: 21-Feb-2013 [ | E-mail | Share ]

Contact: Leslie Capo lcapo@lsuhsc.edu 504-568-4806 Louisiana State University Health Sciences Center

New Orleans, LA Research conducted by Dr. Jayne S. Weiss, Professor and Chair of Ophthalmology at LSU Health Sciences Center New Orleans, and colleagues has discovered a new mutation in a gene that causes Schnyder corneal dystrophy (SCD.) The gene was found to be involved in vitamin K metabolism suggesting the possibility that vitamin K may eventually be found useful in its treatment. The findings are published in the February 2013 issue of the peer-reviewed journal, Human Mutation.

Schnyder corneal dystrophy is a rare hereditary eye disease that results in progressive loss of vision as abnormal deposits of cholesterol and other fats cloud the cornea. Affecting both eyes, it often requires corneal transplantation surgery.

Dr. Weiss is one of the world's leading authorities on the disease. She identified the largest group of people with SCD in the world and corrected misconceptions about the disease facilitating its diagnosis. Dr. Weiss and her colleagues discovered UBIAD1, the gene that causes SCD, in 2007 a gene that is also involved in cholesterol metabolism. Their research continues to try to identify exactly how the disease develops.

Researchers suspected that the function of UBIAD1 might be related to the production of endogenous vitamin K. UBIAD1 was recently shown to trigger the production of menaquinone-4, or MK-4, the predominant form of hormonally active vitamin K in humans. Vitamin K is an important cofactor in blood clotting and bone metabolism. Cholesterol heavily influences the proteins that work with vitamin K.

This study identified a new DNA mutation in UBIAD1 that substituted one amino acid with another in 51 members of six SCD families. The mutation, which alters enzyme function, is likely involved in causing the disease as it was found in 47 of 47 people with clinically diagnosed SCD and was not observed in 300 control individuals.

The research team also showed significantly reduced production of MK-4 due to SCD alteration of UBIAD1, and the association of UBIAD1 with enzymes involved in cholesterol production and storage, providing direct links between UBIAD1 and cholesterol metabolism that are likely involved in the development of SCD. These findings indicate that decreased MK-4 production by SCD-mutant UBIAD1 is a consistent biochemical defect associated with the accumulation of cholesterol observed in the corneas of SCD patients.

The current study indicates endogenous, intracellular MK-4 produced by UBIAD1 has a physiologic role in maintaining corneal health and visual acuity that is distinct from the role of dietary vitamin K in blood clotting. The finding of decreased MK-4 production by SCD mutant UBIAD1 suggests MK-4 supplements, potentially delivered by topical administration to the eyes, might be useful as a therapy to treat clouded corneas, or at least prevent the continued accumulation of cholesterol and lipids that are seen in SCD.

"Research like this helps us target new treatment or prevention approaches that may benefit not only people with Schnyder corneal dystrophy," notes Dr. Jayne Weiss, who also holds the Herbert E. Kaufman, MD Endowed Chair in Ophthalmology at LSU Health Sciences Center New Orleans and is Director of the LSU Eye Center. "Discovering a new component of the dynamic cellular cholesterol regulatory network gives us information that can be applied to every disease arising from a defect in it. Besides Schnyder's corneal dystrophy, this includes many types of cancer."

See the original post:
Research discovers gene mutation causing rare eye disease

Recommendation and review posted by Bethany Smith

Nita Farahany and Lee Silver argue against the motion "Prohibit Genetically Engineered Babies" during an Intelligence Squared U.S. debate.

Nita Farahany and Lee Silver argue against the motion "Prohibit Genetically Engineered Babies" during an Intelligence Squared U.S. debate.

What if, before your children were born, you could make sure they had the genes to be taller or smarter? Would that tempt you, or would you find it unnerving?

What if that genetic engineering would save a child from a rare disease?

As advancements in science bring these ideas closer to reality, a group of experts faced off two against two in an Intelligence Squared U.S. debate on the proposition: "Prohibit Genetically Engineered Babies."

Before the debate, 24 percent of the audience supported the idea of prohibiting genetic engineering of babies, while 30 percent were against. Forty-six percent were undecided. After each side presented its case, 41 percent of the audience voted for the motion, "Prohibit Genetically Engineered Babies," while 49 percent sided with the experts arguing against it making them the winners of the debate.

Those debating were:

Robert Winston argues in favor of banning genetic engineering of babies.

Robert Winston argues in favor of banning genetic engineering of babies.

FOR THE MOTION

Read more from the original source:
Nita Farahany: Should we prohibit genetically engineered babies?

Recommendation and review posted by Bethany Smith

Public release date: 20-Feb-2013 [ | E-mail | Share ]

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

New Rochelle, NY, February 20, 2013Reducing financial barriers to medication accessa strategy known as value-based insurance design (VBID)can improve medication adherence and management of chronic diseases such as diabetes. The economic and patient-perceived benefits of eliminating co-payments for diabetes-related medications and supplies are described in a trend-setting study published in Population Health Management, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Population Health Management website at http://www.liebertpub.com/pop.

In "Patient-Centered Outcomes of a Value-Based Insurance Design Program for Patients with Diabetes," Daniel Elliott, MD, MSCE and coauthors from Christiana Care Health System (Newark, DE), Jefferson Medical College (Philadelphia, PA), and Temple University School of Medicine (Philadelphia, PA) compared patient self-reports from before and one year after the start of a VBID program that eliminated insurance co-payments for diabetes-related medications and supplies. As a group, the patients reported improved adherence to medication regimens for hyperglycemic control and a significant decrease in out-of-pocket costs associated with non-adherence.

Nearly 90% of the study participants felt that the elimination of co-payments helped them better self-manage their diabetes.

"Improving care coordination is a cornerstone of health reform. That's why this is a watershed paper," says Editor-in-Chief David B. Nash, MD, MBA, Dean and Dr. Raymond C. and Doris N. Grandon Professor, Jefferson School of Population Health, Philadelphia, PA.

###

About the Journal

Population Health Management is an authoritative peer-reviewed journal published bimonthly in print and online that reflects the expanding scope of health care management and quality. The Journal delivers a comprehensive, integrated approach to the field of population health and provides information designed to improve the systems and policies that affect health care quality, access, and outcomes. Comprised of peer-reviewed original research papers, clinical research, and case studies, the content encompasses a broad range of chronic diseases (such as cardiovascular disease, cancer, chronic pain, diabetes, depression, and obesity) in addition to focusing on various aspects of prevention and wellness. Tables of content and a sample issue may be viewed on the Population Health Management website at http://www.liebertpub.com/pop. Population Health Management is the Official Journal of the Care Continuum Alliance.

About the Publisher

Read the original:
Can insurers save money by providing free diabetes-related medications and supplies?

Recommendation and review posted by Bethany Smith

Bauer Fellow Peter J. Turnbaugh and coworkers published work last month that could pave the way for techniques in personalized medicinetreatment which caters to an individuals unique genetic makeup.

The paper, which was published in the research publication Cell, demonstrated some of the specific effects certain drugs have on microbes in the human body.

The results of this study could help scientists and doctors predict and avoid side effects that may arise from their patients taking oral medication.

Even with advances in medicine, there are still a significant number of drugs that come with side effects of varying degree. These side effects are difficult for scientists to eliminate because every persons response to drugs is individualized and unique.

In order to begin to understand these unique responses, Turnbaughs group analyzed the responses of various microbes found in the human gut, and their responses to various drugs and antibiotics.

After the microbes were treated with doses of the drugs, researchers inspected them for changes in their structure and gene expression.

By noting which groups of microorganisms changed in response to the treatment, Turnbaughs group was able to conclude which microbes interact most strongly with a series of six drugs and eight antibiotics.

Turnbaugh said that knowing these specific responses could help determine which drugs might prove damaging to specific patients.

According to Turnbaugh, the techniques used in the study were relatively new, and would not have been monetarily feasible for many research groups five years ago.

There has been sort of a resurgence in the field in the last three years, primarily driven by the fact that [genetic] sequencing costs have decreased, Turnbaugh said. Theres a lot of feedback and a lot of tools that tell us what genes are in [different bacterias] genome.

Continued here:
Microbes Pave Way for "Personalized Medicine"

Recommendation and review posted by Bethany Smith

Steven Hunt / Photographer's Choice / Getty Images

Two groups joined to publish advice for doctors trying to decide whether the latest genetic testing is right for their youngest patients.

Should worried parents be able to test their babies for diseases they may develop down the road, just because theyre curious? Should worried teens be able to screen themselves, without parental knowledge, for disorders that may manifest decades in their future? And what about delving into your kids DNA on your own, with the help of direct-to-consumer testing?

These are some of the difficult issues addressed by a new statement on genetic testing in children issued by the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG).

The joint statement a first for the two groups acknowledges that genetic testing is evolving so rapidly that physicians need guidance navigating what can be an ethical, legal and social thicket. They are not binding, but rather recommendations for how physicians, to whom parents turn for counsel about challenging genetic issues, should ideally proceed.

Genetics is changing rapidly before our eyes, says Dr. Lainie Friedman Ross, a professor of pediatrics and clinical ethics at the University of Chicago and the statements lead author. From a general pediatricians perspective, its really important we start thinking about this.

(MORE: Do All Women Need Genetic Testing Before Pregnancy?)

The agencies policies were long due for an update. The ACMG last issued a statement in 1995; the AAP came out with one in 2001. The current guidelines appear in two versions the journal Pediatrics contains the policy statement, while Genetics in Medicine includes a technical report that delves into the framework of the recommendations and outlines the arguments behind the policy. This very thoughtfully lays out the benefits of testing but also some of the risks inherent in testing so that health-care providers and parents and patients understand the ramifications and know when its useful and when it may not be so useful, says Dr. Mira Irons, associate chief of the division of genetics at Boston Childrens Hospital.

Nearly all parents encounter genetic testing as soon as they welcome a child into the world. All states perform newborn screening, mostly to detect genetic diseases so that treatment can begin as early s possible. The screening is mandatory, but as is the case with immunization, parents may opt out. Yet many dont even realize their infant is being tested, so the new statement emphasizes the importance of asking parents if they want the testing. This might take a little bit more time, but I believe parents will make the right decisions, says Ross. In Maryland, which previously asked parents for consent, less than 0.1% of parents declined. If they refuse, we need to educate and reeducate.

MORE: Kids and DNA series

Excerpt from:
New Guidelines for Genetic Testing in Children

Recommendation and review posted by Bethany Smith

By Lara Salahi, Boston.com Correspondent

For many parents who face a family history of devestating genetic diseases, the question of whether their child is at risk, and his or her chances of getting the disease, may not be far from mind. The rise in popularity of at-home genetic tests suggest some feel the answers to those questions may no longer be a secret.

But many experts say the anxiety that comes along with predictive test and no definitive results does more harm than good. Thats why a new policy statement by the American Academy of Pediatrics and the American College of Medical Genetics aims to put the brakes on testing children used to identify genetically inherited childhood diseases and diseases that can occur when they become adults.

Physicians should discourage testing in children for adult onset genetic disease, especially if there is no treatment to give during childhood to prevent the disease, according to the new policy statement released Thursday.

In that case, theres nothing the person can do differently until they are an adult, said Dr. Lainie Ross, the Carolyn and Matthew Bucksbaum professor of clinical ethics at the University of Chicago and lead author of the accompanying report published Thursday in the journal Genetics in Medicine.

The statement is the first time both organizations have teamed together. The last time the American Academy of Pediatrics released a statement on genetic testing was in 2001.

Because screening tests dont provide definitive answers, for some families, the findings may lead to anxiety and more questions, said Ross.

With genetics, weve come to learn that its complicated, and people have different reactions to it, she said. Some families need to live with the ambiguity.

Within the first few days of life, nearly every newborn undergoes screening for certain genetic disorders. From then on, physicians dont regularly offer genetic testing for children. But with the rise of new tests and new ways to identify genetic disorders, the number of families opting for genetic testing has dramatically increased.

At-home genetic tests such as 23 and Me pose the largest concern since people who take those tests are often not counseled by genetic experts, Ross said.

See the article here:
Physician organizations recommend against genetic testing for children

Recommendation and review posted by Bethany Smith

(28) Jaynia -- INFO: Genetics

By: CSULA OralComm

View original post here:
(28) Jaynia -- INFO: Genetics - Video

Recommendation and review posted by Bethany Smith

Ep 34 - Waikaka Genetics - PGG Wrightson Stud Tour
Rural TV NZ in association with New Zealand #39;s leading agriculture company, PGG Wrightson, present the PGG Wrightson Stud Tour 2012. WAIKAKA GENETICS -- Paterson Family -- Outram, Southland This week on the PGG Wrightson Stud Tour we the Paterson family, Laurie, Sharon and their son Ross and his wife Steph, farming just out of Waikaka in Southland. The Paterson family, along with Sharons family the Kings of the Lilburn Valley, have been breeding Herefords for decades, and now with their son marrying into the Lake Station Herefords, this family is a powerful force when it comes to Hereford genetics in New Zealand! Not only are the Paterson #39;s concentrating on their years of Hereford breeding and Laurie #39;s strong involvement in the evolution of the Hereford Prime programme, they also run four sheep studs -- Romney, Romdale, Romex (RomTex) and Texel. Sharon #39;s passion for Texel #39;s is very special and profound in the growing market for Texel in the New Zealand lamb industry. Tony Glynn, of Rural TV (NZ) learns of the level of technology the Waikaka Genetics team have implemented into their breeding programme, and value the recording it provides down the chain. Tony also confesses his love for Sharon #39;s views on family farm succession with a brillant philosophy for all to adopt (have to watch right to the end of the episode!) This episode is sure to leave you inspired with the hard work that is happening in the Waikaka Genetics yards to evolve the adoption of technology. MAKE SURE ...

By: RURALTVNZ

Read the original post:
Ep 34 - Waikaka Genetics - PGG Wrightson Stud Tour - Video

Recommendation and review posted by Bethany Smith

Healthy, happy young ProCross cows at Hoekstra Dairy 2013
Creative Genetics of California Inc. Open House February 15th of 2013 at Hoekstra Dairy, Oakdale, California.

By: frankspage

Follow this link:
Healthy, happy young ProCross cows at Hoekstra Dairy 2013 - Video

Recommendation and review posted by Bethany Smith

medium
Introducing THE most amazing Grace I have ever met! After more than a year of very hard work, high school senior and amazing artist, Julia Sacha, and I have collaborated to create 24 and 23 Make Me, a book in which a teenager named Grace, who has Down #39;s Syndrome, explains the genetics of how she became so very special. All royalties will be donated to the SC Special Olympics. God has blessed me indeed by bringing the real Grace into my life. Love to all of you, Merrie PS This Friday, March 1, 7 pm, McAlister Field House, The Citadel, Opening Ceremonies for the SC Winter Games. Won #39;t you join Team Grace if you can?!

By: merriesouthgate

Excerpt from:
medium - Video

Recommendation and review posted by Bethany Smith