Public release date: 4-Oct-2012 [ | E-mail | Share ]

Contact: Patricia Bailey pjbailey@ucdavis.edu 530-752-9843 University of California - Davis

As restaurant patrons' diverse food preferences give rise to varied menu offerings, so plant-eating insects' preferences play an important role in maintaining and shaping the genetic variation of their host plants in a geographic area, reports an international team of researchers that includes a plant scientist at the University of California, Davis.

The new study, involving aphids and the broccoli-like research plant Arabidopsis thaliana, provides the first measureable evidence that this selective process is driven, in part, by the pressure that multiple natural enemies exert on plants by forcing them to create diverse natural defenses to avoid being eaten.

Findings from the study, conducted with researchers in Switzerland, Denmark and England, will appear in the Oct. 5 issue of the journal Science.

"Our data demonstrate that there is a link between the abundance of two types of aphids and the continental distribution of Arabidopsis plants that are genetically different in terms of the biochemicals they produce to defend against insect feeding," said UC Davis plant scientist Dan Kliebenstein.

His laboratory is examining the naturally occurring chemicals involved with plant defenses to better to understand their role in the environment and to explore their potential for improving human nutrition and fighting cancer.

Ecologists have theorized for decades that genetic change and variation within a plant or animal species is critical to enabling the species to survive such changing environmental conditions as the appearance of a new disease or pest.

They have documented that nonbiological changes, such as variations in climate and soil, can exert pressures that cause genetic variation within plant species. However there has been little evidence that biological forces, including insects feeding on plants or competition between plant species, can lead to genetic variation within a plant species across a large geographic area.

In the new study, the researchers first mapped the distribution of six different chemical profiles within Arabidopsis thaliana plants across Europe, each chemical profile controlled by the variation in three genes.

See the original post:
Insects shape the genetic landscape through plant defenses

Recommendation and review posted by Bethany Smith

October 4, 2012 -

In November, Californians will be voting on Proposition 37: A Mandatory Labeling of Genetically Engineered Food Initiative, that will require labeling of raw or processed food if the food is made from plants or animals with genetic material changed in specified ways.

Gail McDonald-Tune advocates for the labeling law and believes the food-buying public is being used as guinea pigs.

Her research has shown that genetic engineering transfers genes across natural species barriers, either by shooting genes into a plate of cells or by using bacteria to invade the cell with foreign DNA. The altered cell is then cloned into a plant.

There are eight food crops that are genetically engineered and five major varieties corn, canola, cotton, soy and sugar beets have bacterial genes inserted that allow the plants to survive an otherwise deadly dose of weed killer. Farmers use considerably more herbicides on these Genetically Modified (GM) crops, so the food has higher residues. About 68 percent of GM crops are herbicide tolerant.

The second GM trait is a built-in pesticide, found in corn and cotton. A gene from the soil bacterium is inserted into the plants DNA, where it secretes the insect-killing Bt-toxin in every cell. About 19 percent of GM crops produce their own pesticide. Another 13 percent produce a pesticide and are herbicide tolerant.

FDA scientists repeatedly warned that GM foods may create unpredictable, hard to detect side effects, including allergies, toxins, new diseases and nutritional problems. and urged long-term studies, but were ignored.

For more information when selecting food, download a free non-GMO Shopping Guide: http://www.ResponsibleTechnology.org.

Read more here:
The Dangers of Genetic Engineering

Recommendation and review posted by Bethany Smith

The Valley's edible crops are grown without genetic engineering, but farmers here still fear a ballot initiative aimed at labeling food that has been genetically modified, saying it could make it harder to sell their products.

Farmers are battling Proposition 37 because they say it hurts business and exposes them to possible lawsuits.

Supporters of the November California ballot measure argue that consumers have a right to know whether the food they are buying has been altered using genetic technology. Many crops grown nationwide, including corn, soybeans and canola, have been tinkered with to resist chemicals, bugs or drought.

But Valley farmers say the proposition has some unintended consequences that could increase costs and hurt their ability to sell even non-genetically engineered crops.

As part of Prop. 37, retailers will be required to label products that have genetically engineered ingredients. That means stickers or labels on many common grocery store items, including cereal, cake mixes and cookies.

But products that are exempt, including those that are not genetically engineered, need to be verified by either the wholesaler, food maker or farmer.

Growers believe that could mean more paperwork -- and potential lawsuits by consumer groups if they don't do it right.

"In addition to the substantial record-keeping that we already do, we will have to provide sworn statements proving that we do not have genetically engineered peaches," said Karri Hammerstrom, who farms 40 acres of peaches and plums in Kingsburg with her husband, Bill. "And if we don't do that, we could be sued."

Hammerstrom also is troubled by wording in Prop. 37 that could limit farmers or processors from using the word "natural" when selling products.

The proposition bans the use of the word "natural" or any variation of that in the labeling of genetically engineered foods. But the state's Legislative Analyst's Office said that the way the proposition is written, there is a possibility that the ban could apply to some processed foods regardless of whether they are genetically engineered.

Link:
Valley farmers fear 'modified' wording in Prop. 37

Recommendation and review posted by Bethany Smith

Public release date: 4-Oct-2012 [ | E-mail | Share ]

Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital

BOSTON, MAUterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids.

The study will be published online on October 4, 2012 in The American Journal of Human Genetics.

The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase).

Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found in various types of tumors and is thought to be important for tumor cell survival.

"Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids," said Morton. "Identification of genetic risk factors may provide valuable insight into medical management."

Study samples used were from various cohort studies, such as the Finding Genes for Fibroids study and the Women's Genome Health Study at BWH.

Uterine fibroids may lead to abnormal vaginal bleeding, infertility, pelvic pain and pregnancy complications. Uterine fibroids are found in more than 75 percent of women of reproductive age.

###

Continue reading here:
BWH researchers discover genetic risk for uterine fibroids

Recommendation and review posted by Bethany Smith

The European Union on Thursday set out proposals aimed at thwarting the illegal use of genetic resources and traditional medicine, a practice known as biopiracy.

A Europe-wide regulation would create "a level playing field for all users of genetic resources," the European Commission said in a press release that coincided with a UN conference on biodiversity in Hyderabad, India.

Developing countries, led by India, are complaining that pharmaceutical and cosmetic firms are using local species of plants and animals in their research or exploiting traditional medicine for their own gain.

Confusion on how genetic treasures and knowledge should be shared led in 2010 to the Nagoya Protocol, which members of the UN Convention on Biological Diversity (CBD) have pledged to pass into their national laws.

The draft EU regulation would require users to declare they have exercised "due diligence" in meeting the legal requirements in the country of origin and in showing that the benefits are "fairly and equitably shared," the commission said.

As part of the initiative, an EU database of "trusted collections" of seed banks and botanical gardens will be set up to inform users about the origins of genetic materials.

The proposed measures will be put to the European Parliament and the Council of Ministers, the 27-nation bloc's highest decision-making body.

More than a quarter of all approved drugs over the past 30 years are either natural products or have been derived from a natural product, the commission said.

The CBD meeting runs in Hyderabad until October 19, climaxing in a three-day meeting of environment ministers on a plan to roll back biodiversity decline by 2020.

See more here:
EU unveils measures to combat biopiracy

Recommendation and review posted by Bethany Smith

ScienceDaily (Oct. 4, 2012) Uterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids.

The study will be published online on October 4, 2012 in The American Journal of Human Genetics.

The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase).

Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found in various types of tumors and is thought to be important for tumor cell survival.

"Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids," said Morton. "Identification of genetic risk factors may provide valuable insight into medical management."

Study samples used were from various cohort studies, such as the Finding Genes for Fibroids study and the Women's Genome Health Study at BWH.

Uterine fibroids may lead to abnormal vaginal bleeding, infertility, pelvic pain and pregnancy complications. Uterine fibroids are found in more than 75 percent of women of reproductive age.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

More:
Genetic risk for uterine fibroids identified

Recommendation and review posted by Bethany Smith

By Elizabeth Landau

(CNN) Genome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies.

New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).

After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.

We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine thats influenced by genomes, said Stephen Kingsmore, the studys senior author and director for the Center for Pediatric Genomic Medicine at Childrens Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday.

There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause of these admissions at Kingsmores hospital.

One example of how a genetic test would help newborns is a condition called severe Pompe disease, Kingsmore said. Children with this disorder die if they are not treated by age 1. They will live longer, at least four years, if they receive an enzyme replacement therapy.

The study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the children. A company called Illumina developed a rapid genome sequencing device that incorporates the programs.

Researchers reported diagnoses as a result of this genetic test in the study for six children. Two of these tests were done retrospectively, after the children had died.

The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said. Carol Saunders, the studys lead author, explained at the news conference how one baby and his 6-year-old brother both have a congenital heart defect and heterotaxy, meaning some internal organs are located on the wrong side of the body.

Read the original:
Newborns may benefit from fast genetic test

Recommendation and review posted by Bethany Smith

PALM BEACH, Fla.--(BUSINESS WIRE)--

Genetics Policy Institute (GPI) announced today that Bernard Siegel, Executive Director of GPI, will make two keynote presentations this month at regional conferences: Midwest Conference on Stem Cell Biology and Therapy October 5-7 in Rochester, Michigan and BioFlorida Conference 2012 October 7-9 in Miami, Florida.

Siegel will present a keynote address titled The Power of Advocacy at the Midwest Conference on Stem Cell Biology and Therapy. The Genetics Policy Institute joined with the Oakland University William Beaumont Institute for Stem Cell and Regenerative Medicine (ISCRM) as a collaborating partner for the event. Researchers from hospitals, medical organizations, academic institutions and the business community throughout the Midwest will discuss not only the latest advances in this rapidly expanding field of medical science, but the ethical and moral issues that surround it.

"I am pleased to participate in these important conferences, which showcase the latest scientific developments in their respective regions and beyond. ISCRM and the World Stem Cell Summit have a strong connection, as the Institute was officially launched at our 2010 Summit in Detroit, said Bernard Siegel, GPI's Executive Director and founder of the annual World Stem Cell Summit.

BioFloridas 15th annual Conference is the premier event for Floridas bioscience community. This years meeting will bring together more than 500 professionals from across Florida, the Southeast and the nation to discuss major trends and issues, including topics related to product development, scientific research, business development, financing and public policy.

Siegels keynote address at BioFlorida is titled: The Mandate to Deliver Cures: Aligning Patient Advocacy, Industry and Science. Former Governor Jeb Bush will deliver the second keynote at BioFloridas annual Conference.

The 2012 World Stem Cell Summit is in West Palm Beach, Florida this December, so we have been working closely with the biotechnology community here. I am delighted to partner with BioFlorida as they advance Floridas bioscience industry," said Siegel, who also serves on the Executive Committee of the Alliance for Regenerative Medicine and Board of the Coalition for Advancement of Medical Research. He serves as spokesperson for the Stem Cell Action Coalition.

ABOUT GPI:The Genetics Policy Institute (GPI) supports stem cell research to develop therapeutics and cures. GPI pursues its mission by honoring leadership through the Stem Cell Action Awards, producing the World Stem Cell Summit, publishing theWorld Stem Cell Report, organizing educational initiatives and fostering strategic collaborations. For more information, visitwww.genpol.org.

ABOUT THE WORLD STEM CELL SUMMIT:The 2012 World Stem Cell Summit is presented by GPI and is co-organized by the Interdisciplinary Stem Cell Institute (ISCI) at the University of Miami Miller School of Medicine, Diabetes Research Institute, Beckman Research Institute at City of Hope, Karolinska Institute (home of the Nobel Prize in Physiology and Medicine), International Translational Regenerative Medicine Center (ITRC) and the Institute for Integrated Cell-Material Sciences (iCeMS) at Kyoto University. The Summit is the flagship meeting of the world stem cell community. The 2012 Summit will be held at the Palm Beach County Convention Center in West Palm Beach, Florida, December 3-5, 2012. For more information, visit http://www.worldstemcellsummit.com.

Go here to read the rest:
Bernard Siegel to Deliver Keynote Addresses at Midwest Conference on Stem Cell Biology and Therapy and BioFlorida ...

Recommendation and review posted by Bethany Smith

REYKJAVIK, Iceland, October 4, 2012 /PRNewswire/ --

ORF Genetics announced today that the company has added endotoxin- and animal-free human Fibroblast Growth Factor Basic (FGF basic) and mouse Leukemia Inhibitory Factor (mouse LIF) to its portfolio of growth factors for stem cell research.

Most growth factors applied in stem cell research today are made in E. coli bacteria, which produce endotoxins that can have adverse effect on stem cell cultures. Other manufacturers of growth factors have various methods to remove these endotoxins, but traces inevitably remain, which can lead to increased death rate of cells and other suboptimal effects in cell cultures. Other growth factors on the market today are made by animal cells. However, most stem cell researchers prefer to use growth factors of non-animal origin to exclude risks of viral contamination and the inclusion of growth factor homologs.

This has led to a market demand for alternative sources of animal-free growth factors, void of endotoxins. ORF Genetics' unique growth factors are produced in the seeds of the barley plant, which does not produce any endotoxins or other substances toxic to mammalian cells.

FGF basic and mouse LIF are key growth factors for the cultivation of their respective stem cells, i.e. FGF basic for human stem cells and mouse LIF for mouse stem cells. Each protein is used to expand the stem cells' populations before researchers make them differentiate into various cell types, such as heart, liver or neural cells.

"ORF Genetics has built a reputation for offering the first plant-made, endotoxin-free and animal-free growth factor portfolio for stem cell researchers. As we are producing these growth factors in our novel plant expression system ORFEUS, we are very happy to be able to offer these high quality growth factors at more efficient prices than market leaders," said Bjrn rvar, CEO of ORF Genetics.

ORF Genetics is a world leader of plant made growth factors and offers a portfolio of endotoxin- and animal-free growth factors for human stem cell research. The company's production takes place in a biorisk-free production system in barley, bypassing conventional bacteria and animal cell production systems. The cultivation of barley takes place in greenhouses in inert volcanic pumice, using renewable geothermal energy.

For more information please contact:

Dr. Hakon Birgisson, Director of Global Market Development Tel: +354-821-1585 email:hakon.birgisson@orfgenetics.com

Read the original here:
ORF Genetics to Offer endotoxin- and Animal-free FGFb and mLIF for Stem Cell Research

Recommendation and review posted by Bethany Smith

ANN ARBOR, Mich.--(BUSINESS WIRE)--

RetroSense Therapeutics, a biotechnology company dedicated to developing gene therapy approaches to vision restoration welcomes Steven Bramer, PhD to its senior management team as Chief Development Officer.

Dr. Bramer brings a host of high-value skills to the team in drug development, business development, and beyond. As an all-around-athlete having great drug development experience, with an emphasis on ocular therapeutics, he is an outstanding complement to our executive team, stated Sean Ainsworth, CEO and founder of RetroSense Therapeutics.

Dr. Steven Bramer has over 26 years of drug development experience. He has held positions in global companies where he contributed substantially to all stages of development for drugs, biologics, tissues, combination products, and devices. His experience covers a broad range of therapeutic areas, including ophthalmology, and he has dealt extensively with regulatory agencies in the US and abroad. Dr. Bramer has served in leadership roles throughout most of his career, leading departments, teams, and initiatives successfully including his role as the Chief Drug Development Officer at the Foundation Fighting Blindness.

I had the privilege of being introduced to the team at RetroSense while was the Chief Drug Development Officer at the Foundation Fighting Blindness. Of the numerous projects I had the pleasure of evaluating in that role, RetroSenses optogenetic therapy stood out as an excellent opportunity to restore vision. What is unique and promising about this approach is the potential to restore vision in patients who have lost the function of their rods and cones due to a wide variety of causes. I am excited to work with RetroSense to bring this technology to the clinic and ultimately to the patients whose lives have been impacted by vision loss.

Dr. Bramer will play a pivotal role in bringing RetroSenses lead product, RST-001, into the clinic for the treatment of retinal degenerative conditions, such as retinitis pigmentosa and dry age-related macular degeneration.

Dr. Bramer holds an AS degree in Biology from Delhi College, BS degree in Animal Science from Cornell University, and has completed a MS program in Pathology and a Ph.D. in Pharmaceutics from The Ohio State University.

About RetroSense Therapeutics

RetroSense Therapeutics is a biotechnology company developing a game-changing gene therapy to restore vision in patients suffering from blindness due to retinitis pigmentosa (RP) and advanced dry age-related macular degeneration (advanced dry-AMD). There are currently no FDA approved therapies to improve or restore vision in patients with these retinal degenerative conditions. RetroSense is led by a team of seasoned veterans with deep experience in taking products from the discovery stage through to the clinic. For more information about RetroSense, visit http://www.retro-sense.com/.

Original post:
RetroSense Therapeutics Welcomes Dr. Steven Bramer as Chief Development Officer

Recommendation and review posted by Bethany Smith

Company seeks to enter $18 billion market for bone marrow stimulating growth factors

San Diego, CA (PRWEB) October 03, 2012

As part of the development process, on May 18, 2012, Regen submitted a provisional patent application covering the use of placentally-derived endothelial cells for treatment of bone marrow failure. Regen has also been granted an exclusive option to enter into an agreement to be granted an exclusive, worldwide, royalty bearing license to US patent No. 6,821,513, covering a proprietary method for enhancing hematopoiesis (formation of blood cells).

Current approaches to treating bone marrow disorders involve administration of pharmaceuticals which target stem cells to produce more blood. This approach is not effective on everyone with bone marrow failure and some forms of this disease are completely resistant said J. Christopher Mizer, President of Regen BioPharma. Our strategy is to heal the bone marrow by administering cells that provide the optimum mix of growth factors to stimulate the bone marrow into producing blood cells naturally.

Data from a peer reviewed publication (Lei et al. Stem Cell Res. 2010 January; 4(1): 1724) by the inventor of the patent demonstrated that the administration of endothelial cells restores blood production and extends survival after bone marrow damage.

The HemaXellerate product aims to address the unmet medical need of patients who are non-responsive to existing growth factor therapies such as Neupogen and Leukine. These patients include those suffering from: aplastic anemia, a condition where the bone marrow produces an insufficient number of new cells to replace lost blood cells; chemotherapy/radiotherapy induced bone marrow failures; and low blood cell production after bone marrow or cord blood transplants, stated Thomas Ichim, Chief Scientific Officer of Regen BioPharma.

According to David Koos, Chairman & CEO of Bio-Matrix, HemaXellerate may provide an ideal therapeutic for bone marrow failure based upon: (1) regulating secretion of cytokines as biologically needed; (2) producing long-term, localized growth factors that alleviate the need for drugs; and (3) actively repairing the blood producing stem cell environment.

A spokesperson for the Company said Regen intends to file an Investigational New Drug (IND) Application in the fourth quarter of 2012 and conduct Phase I/II clinical trials during 2013 and 2014.

About Bio-Matrix Scientific Group Inc. and Regen BioPharma, Inc.:

Bio-Matrix Scientific Group, Inc. (OTCQB: BMSN) (PINKSHEETS: BMSN) is a biotechnology company developing regenerative medicine therapies and tools. The Company is focused on human therapies that address unmet medical needs. Specifically, Bio-Matrix Scientific Group Inc. is looking to increase the quality of life through therapies involving stem cell treatments. These treatments are focused in areas relating to cardiovascular, hematology, oncology and other indications.

Read the original:
Bio-Matrix Scientific Group's Regen BioPharma Subsidiary Announces HemaXellerate™ As First Product in Development

Recommendation and review posted by sam

To view our videos, you need to enable JavaScript. Learn how. install Adobe Flash 9 or above. Install now. Then come back here and refresh the page.

DURHAM -- With lives on the line, the need for bone marrow donations across the country is greater than ever.

The National Marrow Donor Program said just five out of 10 patients will receive the transplant they need survive.

Elon University student Donovan Rainey recently passed the exam of a lifetime. He's a donor match for a patient in need of a bone marrow transplant.

"To be able to give life and to be able to try to sustain someone else's is just the ultimate gift," said Rainey.

Giving that gift is easier than before.

Duke University Medical Center said many are under the false impression that the only way to donate is by surgerically removing bone marrow from the hip.

Instead, donors can get blood removed through a machine. The stem cells found in donors blood will be used to create a new immune system for recipients.

"They don't need general anesthesia, they don't have to go to the operating room and I think there is less discomfort," said Susan Drago, a nurse at Duke's Blood and Marrow Transplant Clinic and Treatment Facility.

Rainey said the temporary discomfort is worth it because the life on the line was his dad's.

Visit link:
College student answers growing need for bone marrow transplants

Recommendation and review posted by sam

Contributor (888) 633-0360

As weve reported in previous posts, teamwork among medical staff is imperative to patient recovery. Eleven studies published last month in Archives of Physical Medicine & Rehabilitation showed that the same holds true for spinal cord injury victims recovery.

The Christopher & Dana Reeve Foundation NeuroRecovery Network (NRN) a collection of spinal cord injury rehabilitation centers across the country credits its ability to help patients regain lost physical function and overall health and well-being to its standardization of rehabilitation practices. Research findings are turned into training activities that can be employed in the same way at each of the centers. The rehabilitation each patient undergoes is also evaluated by the same standards across all centers. Teams of contributors to this training are made up of scientists, physicians, physical and occupational therapists, and hospital administrators, according to a news release. That way, multiple points of view are taken into account in creating the most effective practices.

"For the first time, conclusive evidence has proven that standardized rehabilitation across multiple centers can result in positive patient recovery, said Christopher & Dana Reeve Foundation Executive Vice President of Research Susan Howley. Policies are needed to ensure that access to these centers is provided to all patients living with spinal cord injury and that new sites are continuously added to the NeuroRecovery Network.

Over a million people in the U.S. are paralyzed due to spinal cord injury, the NRNs press release stated. The networks rehabilitation helps both newly injured people as well as those whove been paralyzed for years.

Thanks to the progress the Reeve Foundation has made possible, NRN patients living with spinal cord injury are regaining motion, improving their balance as well as bowel, bladder and sexual function, the news release stated.

To learn more about the Christopher & Dana Reeve Foundation's NeuroRecovery Network, please click here.

Visit link:
Teamwork enables spinal cord injury victims to walk

Recommendation and review posted by sam

October 3, 2012

Alan McStravick for redOrbit.com Your Universe Online

Ask a handful of people about their thoughts and feelings on the use of stem cells for research and therapeutic means and you will find that they each have strong and varying positions on the topic. Outside the scientific community, however, little is known about this highly complex field of research.

The politicization of stem cell research accompanied the 1998 discovery that embryonic stem cells, the building blocks of organ, tissue, bone and brain cells, could be extracted for study and medical use. In 2001, with an order to limit the lines of stem cell research to those already in possession of the scientific community, President George W. Bush largely hampered the development of this field in the United States by limiting government funding for stem cell research. Adult stem cells, or somatic stem cells, were unaffected by this order, but the prevailing wisdom of the genetic community was that adult stem cells were not as dynamic and couldnt be used in the same way as their embryonic cousins.

With a report published Monday in the American Journal of Pathology, that truth no longer seems to be the case. A team led by Manel Esteller, director of the Cancer Epigenetics and Biology Program in the Bellvitge Biomedical Research Institute (IDIBELL), was able to identify epigenetic changes that occur in the somatic stem cells to generate different body tissues.

The use of somatic or adult stem cells had been a regular occurrence since their discovery in the 1950s. It was then that researchers found that bone marrow contains two different kinds of stem cells. The first, called hematopoietic stem cells, form all the types of blood cells in the body. The second, known as bone marrow stromal stem cells, were discovered only a few years later and are effective in the generation of bone, cartilage, fat and fibrous connective tissues.

One thing that has been understood is that the genome of each cell in the human body is identical. This is true regardless of their appearance and function. It is for this reason that certain anomalies, such as cancer, are seemingly incomprehensible as they are unable to be explained by the genome of the host. To better understand such complex genetic deviations, something more is required.

Researchers in this current study offer an explanation via analogy. Epigenetics is defined as the inheritance of DNA activity that does not depend on the strict sequence of it. According to the team, if genetics is the alphabet, spelling would be the epigenetics, referring to chemical changes in our genetic material as well as the proteins that regulate and control their activity.

We now know that somatic stem cells have enormous potential to regenerate damaged organs. By investigating how to use them more effectively in different types of therapies, the research team postulates that it will become easier to steer clear of any sticky ethical complications that might arise from working with embryonic stem cells.

In this study, the team was able to isolate somatic stem cells from body fat, allowing them to transform them into muscle and bone cells. Through their study, they observed the resemblance of the cells created in the laboratory to those of the host individual. They were also able to determine that the cells were biologically secure enough that they might be implanted into waiting patients. Overall, the study was able to show that the epigenome of the cells obtained and maintained in culture closely resembled skeletal and muscle cells that are spontaneously present in nature, though not completely identical.

Read the original:
Study Shows Epigenetics Of Adult Stem Cells Influences Organ Creation

Recommendation and review posted by Bethany Smith

Company seeks to enter $18 billion market for bone marrow stimulating growth factors

San Diego, CA (PRWEB) October 03, 2012

As part of the development process, on May 18, 2012, Regen submitted a provisional patent application covering the use of placentally-derived endothelial cells for treatment of bone marrow failure. Regen has also been granted an exclusive option to enter into an agreement to be granted an exclusive, worldwide, royalty bearing license to US patent No. 6,821,513, covering a proprietary method for enhancing hematopoiesis (formation of blood cells).

Current approaches to treating bone marrow disorders involve administration of pharmaceuticals which target stem cells to produce more blood. This approach is not effective on everyone with bone marrow failure and some forms of this disease are completely resistant said J. Christopher Mizer, President of Regen BioPharma. Our strategy is to heal the bone marrow by administering cells that provide the optimum mix of growth factors to stimulate the bone marrow into producing blood cells naturally.

Data from a peer reviewed publication (Lei et al. Stem Cell Res. 2010 January; 4(1): 1724) by the inventor of the patent demonstrated that the administration of endothelial cells restores blood production and extends survival after bone marrow damage.

The HemaXellerate product aims to address the unmet medical need of patients who are non-responsive to existing growth factor therapies such as Neupogen and Leukine. These patients include those suffering from: aplastic anemia, a condition where the bone marrow produces an insufficient number of new cells to replace lost blood cells; chemotherapy/radiotherapy induced bone marrow failures; and low blood cell production after bone marrow or cord blood transplants, stated Thomas Ichim, Chief Scientific Officer of Regen BioPharma.

According to David Koos, Chairman & CEO of Bio-Matrix, HemaXellerate may provide an ideal therapeutic for bone marrow failure based upon: (1) regulating secretion of cytokines as biologically needed; (2) producing long-term, localized growth factors that alleviate the need for drugs; and (3) actively repairing the blood producing stem cell environment.

A spokesperson for the Company said Regen intends to file an Investigational New Drug (IND) Application in the fourth quarter of 2012 and conduct Phase I/II clinical trials during 2013 and 2014.

About Bio-Matrix Scientific Group Inc. and Regen BioPharma, Inc.:

Bio-Matrix Scientific Group, Inc. (OTCQB: BMSN) (PINKSHEETS: BMSN) is a biotechnology company developing regenerative medicine therapies and tools. The Company is focused on human therapies that address unmet medical needs. Specifically, Bio-Matrix Scientific Group Inc. is looking to increase the quality of life through therapies involving stem cell treatments. These treatments are focused in areas relating to cardiovascular, hematology, oncology and other indications.

Excerpt from:
Bio-Matrix Scientific Group's Regen BioPharma Subsidiary Announces HemaXellerate™ As First Product in Development

Recommendation and review posted by Bethany Smith

Newswise LOS ANGELES (Oct. 2, 2012) Researchers at Cedars-Sinais Maxine Dunitz Neurosurgical Institute have found that a blood vessel-building gene boosts the ability of human bone marrow stem cells to sustain pancreatic recovery in a laboratory mouse model of insulin-dependent diabetes.

The findings, published in a PLoS ONE article of the Public Library of Science, offer new insights on mechanisms involved in regeneration of insulin-producing cells and provide new evidence that a diabetics own bone marrow one day may be a source of treatment.

Scientists began studying bone marrow-derived stem cells for pancreatic regeneration a decade ago. Recent studies involving several pancreas-related genes and delivery methods transplantation into the organ or injection into the blood have shown that bone marrow stem cell therapy could reverse or improve diabetes in some laboratory mice. But little has been known about how stem cells affect beta cells pancreas cells that produce insulin or how scientists could promote sustained beta cell renewal and insulin production.

When the Cedars-Sinai researchers modified bone marrow stem cells to express a certain gene (vascular endothelial growth factor, or VEGF), pancreatic recovery was sustained as mouse pancreases were able to generate new beta cells. The VEGF-modified stem cells promoted growth of needed blood vessels and supported activation of genes involved in insulin production. Bone marrow stem cells modified with a different gene, PDX1, which is important in the development and maintenance of beta cells, resulted in temporary but not sustained beta cell recovery.

Our study is the first to show that VEGF contributes to revascularization and recovery after pancreatic injury. It demonstrates the possible clinical benefits of using bone marrow-derived stem cells, modified to express that gene, for the treatment of insulin-dependent diabetes, said John S. Yu, MD, professor and vice chair of the Department of Neurosurgery at Cedars-Sinai, senior author of the journal article.

Diabetes was reversed in five of nine mice treated with the injection of VEGF-modified cells, and near-normal blood sugar levels were maintained through the remainder of the six-week study period. The other four mice survived and gained weight, suggesting treatment was beneficial even when it did not prompt complete reversal. Lab studies later confirmed that genetically-modified cells survived and grew in the pancreas and supported the repopulation of blood vessels and beta cells.

Anna Milanesi, MD, PhD, working in Yus lab as an endocrinology fellow, is the articles first author. The researchers cautioned that although this and other related studies help scientists gain a better understanding of the processes and pathways involved in pancreatic regeneration, more research is needed before human clinical trials can begin.

Insulin-dependent diabetes occurs when beta cells of the pancreas fail to produce insulin, a hormone that regulates sugar in the blood. Patients must take insulin injections or consider transplantation of a whole pancreas or parts of the pancreas that make insulin, but transplantation carries the risk of cell rejection.

# # #

PLoS ONE: Beta-cell Regeneration Mediated by Human Bone Marrow Mesenchymal Stem Cells.

Here is the original post:
Study Sheds Light on Bone Marrow Stem Cell Therapy for Pancreatic Recovery

Recommendation and review posted by Bethany Smith

Are you stumped by the multitude of ingredients in skin care products? Are you baffled by even the basic lotions and potions available on the market?

If so, then here is our fool proof guide to getting the best out of your skin care purchases.

Here are the products to look out for in each stage of you skin's development.

From 18 years

What you are looking for depends on your skin. Usually young skin needs either hydration or sebum-regulation, or possibly both. For moisturisation, look for trehalose, amino acids, hyaluronic acid or urea. If you want to rid your skin of excess oils, go for azeliac acid, clay or black popular.

25-35 years

Women this age need to bring lipids to the skin. Omega 3 and 5 and ceramides are great, too. Look for vegetal stem cells to improve the energy of cells and the cell turnover and antioxidants such as lipoic acid, vitamin E and C to prevent ageing. Exfoliate with AHA or PHA.

35-45 years

Look for active anti-ageing ingredients that can boost your own elastin and hyaluronic acid. Peptides are great, as is stem-cells from apple or edelweiss as they have antioxidative properties and improve the synthesis of collagen and elastine.

45 years up

The rest is here:
Skin care simplified

Recommendation and review posted by Bethany Smith

Washington, October 3 (ANI): A team of scientists has shown that mutations in a gene called NF1 are prevalent in more than one-fourth of all noninheritable or spontaneous breast cancers.

The team include scientists from Cornell University, the University of North Carolina, and Memorial Sloan-Kettering Cancer Center in New York.

In mice, NF1 mutations are associated with hyper-activation of a known cancer-driving protein called Ras. While researchers have found earlier evidence that NF1 plays a role in other types of cancer, this latest finding implicates it in breast cancer.

This suggests that the drugs that inhibit Ras activity might prove useful against breast cancers with NF1 mutations.

"As we enter the era of personalized medicine, genomic technologies will be able to determine the molecular causes of a woman's breast cancer," said John Schimenti, Ph.D., a researcher involved in the work from the Center for Vertebrate Genomics at Cornell University College of Veterinary Medicine in Ithaca, New York.

"Our results indicate that attention should be paid to NF1 status in breast cancer patients, and that drug treatment be adjusted accordingly both to reduce the cancer and to avoid less effective treatments," he added.

To make this discovery, scientists analyzed the genome of mammary tumors that arise in a mouse strain prone to genetic instability-whose activity closely resembles the activity in human breast cancer cells-looking for common mutations that drive tumors.

The gene NF1 was missing in 59 out of 60 tumors, with most missing both copies. NF1 is a suppressor of the oncogene Ras, and Ras activity was extremely elevated in these tumors as a consequence of the missing NF1 gene.

Researchers then examined The Cancer Genome Atlas (TCGA) data, finding that NF1 was missing in more than 25 percent of all human breast cancers, and this was associated with a decrease in NF1 gene product levels, which in turn is known to increase Ras activity.

The research was published in the journal GENETICS.(ANI)

Continue reading here:
Gene behind many spontaneous breast cancers identified

Recommendation and review posted by Bethany Smith

The University of Geneva Medical School's Emmanouil Dermitzakis led an international team to look at differences in expression quantitative trait loci between men and women in Genome Research. Based on analyses of autosomal eQTLs using data on males and females from four populations sampled through the HapMap study, they determined that some 12 percent to 15 percent of these gene expression-regulating variants show sex-biased function. In some instances regulatory variants differed between males and females. In other cases, the same eQTL seemed to have different effects on expression of the associated gene. "Sex-related effects can impact traits where no sexual dimorphism has been observed," the team concludes. "Given the prominence of sex-biased effects, this study emphasizes the importance of considering each sex separately in genomic studies to uncover new disease and trait variants."

Korean researchers performed RNA sequencing on tumor samples from 87 Korean individuals with lung adenocarcinoma samples for another Genome Research study. For the majority of these cases, they were also able to do transcriptome and exome sequencing analyses on matched normal samples. Coupled with screening tests for a few known driver mutations or fusions in more than 100 other lung tumors, these sequences helped the team track down candidate driver mutations in new and known lung cancer genes. The analysis also identified dozens of gene fusions as well as new lung adenocarcinoma-related alternative splicing events and copy number changes. "The successful discovery of many aberrations in cancer genes, such as somatic mutations, gene fusion, alternative splicing events, and cancer outliers, is most likely due to the strong power and comprehensive nature of whole-transcriptome sequencing," authors of the study say.

In the early online edition of Genome Research, a group led by investigators at the University of Texas MD Anderson Cancer Center outlines findings from a systems biology study of endometrial cancer. After sequencing coding regions 13 tumor-normal pairs, the team brought together mutation data from those exomes with screens and functional studies of endometrial cancer. Together, the approaches uncovered a dozen genes containing mutations suspected to drive development of the cancer. The team went on to more fully characterize one of these genes, an apparent tumor suppressor called ARID1A, using a combination of mutational and proteomic analyses in hundreds more endometrial cancers. "Our study presents the first unbiased view of somatic coding mutations in endometrial cancer," the group writes, "and provides functional evidence for diverse driver genes and mutations in this disease."

Read the rest here:
This Week in Genome Research

Recommendation and review posted by Bethany Smith

A new method of genetic testing appears to be able to help doctors diagnose critically ill babies more quickly than ever before, according to a new study.

The method allows doctors for decode a baby's entire genome in two days -- breathtakingly fast compared to current methods that can take six weeks or more.

In the new study, the researchers report using the approach to decode the entire genomes of six acutely ill newborns admitted to neonatal intensive care units, two of whom had already been determined to have genetic diseases. What they found in this proof of concept, they said, could be used in the future to more quickly diagnose sick newborns and treat them early.

The study was published Wednesday in the journal Science Translational Medicine.

"We think that we have come up with a solution for the tragic families who have a baby who's born and the doctors are not sure of what the cause of the baby's illness is," said the study's senior author, Dr. Stephen F. Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics in Kansas City, Mo.

Many of the 3,500 known genetic diseases cause medical problems during the first month of life, the researchers wrote in their study. In the United States, over 20 percent of infant deaths are caused by genetic disorders and birth defects.

"Up to one third of babies admitted to a neonatal intensive care unit in the United States have genetic diseases," Kingsmore said, adding that babies with genetic problems often die or are sent home before a diagnosis is made.

For families coping with the tragedy of a sick newborn, the test may make a big difference.

"The family doesn't know what's going on," Kingsmore said. "The doctors are working heroically to figure out what's wrong. That can go on for weeks."

Armed with an early genetic diagnosis, Kingsmore said that doctors can communicate more clearly with the family.

See the article here:
Fast Gene Screen May Help Sick Babies

Recommendation and review posted by Bethany Smith

MONDAY, Oct. 1 (HealthDay News) -- Researchers who have identified a genetic mutation that causes deafness say that the findings could one day lead to the development of new treatments for those at risk for a certain type of hearing loss.

In their new study, scientists at the University of Cincinnati and Cincinnati Children's Hospital Medical Center reported that the gene is associated with hearing loss stemming from Usher syndrome type 1, a condition that also causes night-blindness and a loss of peripheral vision due to retinal degeneration, as well as some cases of hearing loss not associated with the syndrome ("non-syndromic deafness").

"In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," lead investigator Zubair Ahmed, an assistant professor of ophthalmology who conducts research at Cincinnati Children's, said in a university news release.

Ahmed explained that deafness in Usher syndrome type 1 and non-syndromic hearing loss has been linked with mutations affecting a protein, known as CIB2, which attaches to calcium inside a cell. "To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan," Ahmed said. "However, we have also found another mutation of the protein that contributes to deafness in Turkish populations."

In animal studies, CIB2 has been found in the hair cells of the inner ear that respond to fluid motion and allow hearing and balance. CIB2 is also found in retinal photoreceptor cells, making vision possible, the researchers noted in the news release.

The new findings provide more insight into mechano-electrical transduction, or the process that enables the ear to convert mechanical energy -- or energy of motion -- into something the brain can recognize as sound, the researchers pointed out.

"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed concluded in the news release.

The study, which also involved researchers from the U.S. National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky, was published in the Sept. 30 online edition of Nature Genetics.

It's estimated that 3 to 6 percent of deaf children and 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. In the United States, roughly four out of every 100,000 babies have the syndrome.

-- Mary Elizabeth Dallas

View post:
Researchers Discover Gene Defect Linked to Deafness

Recommendation and review posted by Bethany Smith

Public release date: 3-Oct-2012 [ | E-mail | Share ]

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

New Rochelle, NY, October 3, 2012Making moral judgments is increasingly a central element of the plots of popular video games. Do players of online video games perceive the content and characters as real and thus make moral judgments to avoid feeling guilty? Or does immoral behavior such as violence and theft make the game any more or less enjoyable? The article "Mirrored Morality: An Exploration of Moral Choice in Video Games" published in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers examines these types of questions. The article is available free online on the Cyberpsychology, Behavior, and Social Networking website.

Andrew Weaver and Nicky Lewis, Indiana University, Bloomington, studied how players make moral choices in video games and what effects those choices have on their emotional responses to the games. In general, players tended to make "moral" decisions and to treat game characters as though they were actual people. Although behaving in antisocial ways was associated with greater guilt, it did not affect player enjoyment.

"Although preliminary, these results point to the utility of games as teaching and educational tools, as well as important tools for the assessment of behavior," says Brenda K. Wiederhold, PhD, MBA, BCIA, Editor-in-Chief of Cyberpsychology, Behavior, and Social Networking, from the Interactive Media Institute, San Diego, CA. "These findings indicate how real the virtual world can become when one suspends disbelief and immerses oneself in the scenario."

###

About the Journal

Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly in print and online that explores the psychological and social issues surrounding the Internet and interactive technologies. Complete tables of content and a sample issue may be viewed online on the Cyberpsychology, Behavior, and Social Networking website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

Go here to read the rest:
Does moral decision-making in video games mirror the real world?

Recommendation and review posted by Bethany Smith

According to UC Berkeley professor Ignacio Chapela, the passage of Proposition 37 will not only restore the right to choose what foods we put in our bodies, but it may restore scientific process to its rightful placesomething the bioengineering industry, with full assistance from the White House, removed.

"The promises made by genetic engineering have not been fulfilled," explains Chapela, a microbial biologist who was first to exposed the fact that genetically engineered corn was contaminating ancient strains of Mexican maize via cross-pollinating. "Genetic engineering has proven to be wishful thinking, a dream that has failed."

Chapela considers himself fortunate to be able to speak out freely about GMO failings, since so many other scientists have been attacked or threatened or have lost employment for approaching genetic engineering with a critical eye. "I would like to speak for those scientists," says Chapela, "because they cannot." When the first Bush administration instructed federal regulatory bodies to step aside and give the GE industry free reign, Chapela explains, there was no scientific scrutiny allowed.

"It has been very hard to survive as a scientist who is a critical thinker now," Chapela says. "The central dogma embedded in K-12 science textbooks indoctrinates young people to accept that genetic engineering is an inevitable part of life. It says all living things are driven by genes encoded in DNA, and that by manipulating that DNA we can create life, and mix, match and alter it the way we want it." But this isn't the way it actually plays out, says Chapela. "The reality is that genetic engineering is not working, any way you look at it."

What Proposition 37 offers consumers is the promise that all GMO foods will be labeled in California. What it offers scientists is a chance to scrutinize an industry that has intimidated themsometimes to the point of ruining their careersfor questioning the validity of genetic engineering. "The Bush administration decided in the 1980s that genetic engineering was the next wave of economic development for the U.S. and for the world," says Chapela. "We were instructed to look the other way."

Labeling GE foods may help science, which at present cannot investigate whether GE food consumption is related to rises in disease. "We have been sitting here in the dark, forbidden from looking," says Chapela, who believes a GMO-labeling law will give us "the simple capacity to know and to do the science for the first time. I think we deserve it."

Go here to see the original:
Free Engine

Recommendation and review posted by Bethany Smith

NEW YORK Scanning the DNA of sick infants using a new speed-reading method can diagnose rare genetic disorders in two days instead of weeks, according to research that brings gene mapping a step closer to everyday hospital use.

Researchers at Children's Mercy Hospitals and Clinics in Kansas City, Mo., created software that takes raw data from DNA-scanning machines and combs though hundreds of genetic disorders to detect disease-causing mutations. The system provided likely diagnoses for three of four sick infants in about two days, results published in Science Translational Medicine found.

The new method has the potential to make genome sequencing practical for neonatal-intensive-care units, enabling doctors to diagnose mysterious genetic diseases more quickly, said Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children's Mercy and a study senior author. Fast diagnoses of sick babies could lead to life-extending treatments sooner in some or help avoid futile, costly therapies in others.

"This is the biggest breakthrough in this technology for clinical applications we have seen in a few years," said David Dimmock, a geneticist at the Medical College of Wisconsin and Children's Hospital of Wisconsin in Milwaukee, who wasn't involved in the study. "The ability to sequence and interpret a genome in less than (a) week is huge."

Dimmock said researchers at his institution were working on a similar fast genome-interpretation system, but hadn't published the results. "They beat us to the punch," he said.

There are about 3,500 known genetic diseases of which 500 have treatments, Kingsmore said. Many of these genetic illnesses hit young children. Roughly 20 percent of infant deaths are caused by genetic conditions, according to the study released Wednesday.

The Children's Mercy Hospital system was made possible in part by a new sequencing machine developed by San Diego-based Illumina that can decode the entire DNA sequence of a person in one day.

This generates a colossal volume of raw data that must be analyzed by expert genetic researchers, a process that previously has taken weeks or months.

That's where the system devised by Children's Mercy researchers comes into play. Kingsmore and his team devised smart software that allows treating doctors to enter a sick baby's symptoms.

The software then matches these reported symptoms to known genetic diseases that have similar symptoms, and scans the baby's genome results for likely harmful mutations in relevant genes.

See the original post:
New technique provides speedy diagnosis of rare genetic disorders in infants

Recommendation and review posted by Bethany Smith

Babies with genetic disorders can have their whole genome screened for muations in just two days.

Taylor S. Kennedy/ Getty Images

A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks, as reported today in Science Translational Medicine1.

Up to a third of the babies admitted to neonatal intensive care units have a genetic disease. Although symptoms may be severe, the genetic cause can be hard to pin down. Thousands of genetic diseases have been described, but relatively few tests are available, and even these may detect only the most common mutations.

Whole-genome sequencing could test for many diseases at once, but its cost, the complexity of the results and the turnaround time are prohibitive. In what they hope will be a prototype for other hospitals, a research team led by Stephen Kingsmore at Childrens Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler systemfor finding relevant mutations in whole-genome sequences that is designed for physicians without specialized genetic training.

These kinds of innovation will help more hospitals bring sequencing into clinical care, says Richard Gibbs, director of the human genome sequencing centre at Baylor College of Medicine in Houston, Texas. A lot of people are going to realize from this that the future is now.

Sequencing has been used before to pinpoint the cause of mysterious diseases. In 2011, Gibbs led a team that sequenced 14-year-old twins with a neurological movement disorder and found a way to improve their treatment2. In another instance, whole-genome sequencing suggested that a mysterious case of severe inflammatory bowel disease had a genetic cause and could be relieved through a bone marrow transplant3. But both these examples required several weeks and a team of experts to resolve. The Childrens Mercy Hospital plans to offer routine sequencing in the neonatal intensive care unit by the end of the year.

To order a test, physicians will choose terms from pull-down boxes to describe the infant's symptoms. Software then compiles a list of potential suspect genes. After the genome is sequenced, the software hunts for and analyses mutations in only those genes, which allows it to compile a list of possible causative mutations more quickly. The team had early access to a new DNA sequencing machine from sequencing company Illumina, based in San DIego, California, that could generate a whole genome within 25 hours. The entire process, from obtaining consent to preliminary diagnosis, took 50 hours, not counting the time taken to ship DNA samples and computer hard drives between Illumina's lab in the UK, where the DNA sequencing was carried out, and the hospital, where analysis was conducted. Kingsmore estimates that the cost of sequence and analysis is $13,500 per child, including costs to verify variants in a laboratory certified to perform clinical tests.

The research team used the new system to analyse the genomes of five children, including two brothers, with undiagnosed diseases and found definite or likely causative mutations in four of them. The researchers also sequenced portions of the parents genomes to track down which flagged mutations might cause disease. This exercise revealed that some mutations had arisen for the first time in the child. In other cases, recessive disease-causing variants had been inherited by both parents.

Though none of the diagnoses reported in the study affected treatment decisions, simply having a diagnosis can be a huge comfort, says Kingsmore. Physicians can stop doing costly and invasive tests. Families can get genetic counselling for planning future pregnancies. And new disease genes and mutations generate hypotheses for basic research.

Here is the original post:
Rapid test pinpoints newborns' genetic diseases in days

Recommendation and review posted by Bethany Smith