Archive for March, 2015

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Newswise (New York March 25, 2015) Induced pluripotent stem cells (iPSCs)adult cells reprogrammed back to an embryonic stem cell-like statemay better model the genetic contributions to each patient's particular disease. In a process called cellular reprogramming, researchers at Icahn School of Medicine at Mount Sinai have taken mature blood cells from patients with myelodysplastic syndrome (MDS) and reprogrammed them back into iPSCs to study the genetic origins of this rare blood cancer. The results appear in an upcoming issue of Nature Biotechnology.

In MDS, genetic mutations in the bone marrow stem cell cause the number and quality of blood-forming cells to decline irreversibly, further impairing blood production. Patients with MDS can develop severe anemia and in some cases leukemia also known as AML. But which genetic mutations are the critical ones causing this disease?

In this study, researchers took cells from patients with blood cancer MDS and turned them into stem cells to study the deletions of human chromosome 7 often associated with this disease.

With this approach, we were able to pinpoint a region on chromosome 7 that is critical and were able to identify candidate genes residing there that may cause this disease, said lead researcher Eirini Papapetrou, MD, PhD, Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai.

Chromosomal deletions are difficult to study with existing tools because they contain a large number of genes, making it hard to pinpoint the critical ones causing cancer. Chromosome 7 deletion is a characteristic cellular abnormality in MDS and is well-recognized for decades as a marker of unfavorable prognosis. However, the role of this deletion in the development of the disease remained unclear going into this study.

Understanding the role of specific chromosomal deletions in cancers requires determining if a deletion has observable consequences as well as identifying which specific genetic elements are critically lost. Researchers used cellular reprogramming and genome engineering to dissect the loss of chromosome 7. The methods used in this study for engineering deletions can enable studies of the consequences of alterations in genes in human cells.

Genetic engineering of human stem cells has not been used for disease-associated genomic deletions, said Dr. Papapetrou. This work sheds new light on how blood cancer develops and also provides a new approach that can be used to study chromosomal deletions associated with a variety of human cancers, neurological and developmental diseases.

Reprogramming MDS cells could provide a powerful tool to dissect the architecture and evolution of this disease and to link the genetic make-up of MDS cells to characteristics and traits of these cells. Further dissecting the MDS stem cells at the molecular level could provide insights into the origins and development of MDS and other blood cancers. Moreover, this work could provide a platform to test and discover new treatments for these diseases.

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Mount Sinai Researchers Discover Genetic Origins of Myelodysplastic Syndrome Using Stem Cells

Photo: Chris Lund The blood of a thousand Icelanders.

When the first Viking explorers began settling Iceland, none could have imagined that theirdescendants would pioneer thefuture of modern medicine by surveying the human genome. Fast forward 1000 years to today, whenanIcelandic company has revealedits success insequencing the largest-ever set of human genomes from a single population. The new wealth of genetic data has already begunchanging our understanding of human evolutionary history. It also sets the stage for a new era of preventive medicinebased on individual genetic risks fordiseases such as cancer and Alzheimers disease.

Themilestone in genome sequencing comesfromdeCODE Genetics, a biopharmaceutical company inReykjavk, Iceland. Theirwork, published as four papers in the 25 March 2015 issue of the journalNature Genetics,has yielded new insights aboutthecommon human ancestor for the male Y chromosomenarrowed tosomewhere between 174,000 and 321,000 years agobased on their latest calculation of human mutation rates. Another part of their work discovered thatabout 7.7 percent of the modern-day population has rare knockout genesgenes that have beendisabled by mutations. Early research has also revealed a mutation in theABCA7gene,whichdoubles the risk of Alzheimers disease in Iceland and other populations dominated by European ancestry.

These are just a handful of observations that have come out of the ability to look at the sequence of the genome of an entire nation,saidKari Stefansson, founder of deCODE Genetics, during a press briefing onMonday, 23 March.What is more, we are now sitting in Iceland with the possibility of taking advantage of these insights when it comes to the Icelandic healthcare system.

The company sequenced thewhole genomes of 2636 Icelanders and used those genomes as the basis for calculatingthe genetic variances for the entire Icelandic population.Iceland represents a unique laboratory for genetics researchers because much of the modern population traces its lineage to a relatively small number of founders; a fact that makes it easier to trace genealogies and pedigrees.

Myles Axton, chief editor ofNature Genetics, introduced the Monday press briefingbydescribing how the genetic sequencing strategy in Iceland could also work for other countries:

This strategy of sequencing the DNA of about 1 in 100 of the population, a total of 2,636 Icelanders, and then using shared sets of common genetic variance to predict the full spectrum of genetic variance carried by the whole population, is a great model for the future of human genetics. This technique can be applied to any population and is all the more accurate when there are pedigrees available for much of the population.

Genome sequencing has alloweddeCODE Genetics to begin data-mining information about how certain genes function and their relationship to a broad array of diseases. Past findings from such research included additional insights about gene variants associated with Alzheimers disease and schizophrenia.

The growing database on knockout genes may prove particularly helpful when matched against the phenotypes of individualsthe physical traits or characteristics that can be observed. Perhaps unsurprisingly, the researchers found that knockouts are least common among genes expressed in the brain, given that organs importance.

Basically what we hope to get out of phenotyping the carriers of these knockouts is to figure out which biochemical pathways are necessary for which physiological functions, Stefansson explained.Then the question is whetherthere is redundancy in some of these physiological functions;are there alternative biochemical pathways that can compensate for the loss of one?

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Iceland's Giant Genome Project Points to Future of Medicine

Its the most complete genetic map of an entire country yet completed and it could show clues of what medicine could look like in the coming age of big data.

Researchers working at DeCode Genetics, a unit of the drug company Amgen, have sequenced the genomes of 2,636 Icelanders and used genealogical records and more spotty genetic data to calculate the likely genetics of 101,584 more. Because DeCode has anonymized access to patient medical records, the company could then look for relationships between the genetic variants and disease and they found a new genetic variant that increases the risk of Alzheimers, as well as confiming suspected variants that raise the risk of diabetes and one that causes atrial fibrillation, a heart condition. The results are published in three scientific papers in the journal Nature.

Its certainly an impressive tour de force, says George Yancopoulos, the Chief Scientific Officer of Amgen rival Regeneron. This is certainly establishing a benchmark for all of us and showing the value of this type of analysis, in particular in the Icelandic population.

Regeneron is creating its own database of sequencing data with Pennsylvanias Geisinger Health Systems. The United Kingdom has embarked on a 100,000 Genomes Project. And President Obama has proposed linking together lots of ongoing sequencing projects into a database of 1 million volunteers. The DeCode experiment, started 18 years ago during the dot-com boom, is our first look at the kind of data that these gargantuan efforts could produce.

Some important basic science questions were answered. For instance, a lot of effort is put into figuring out when the most recent common male ancestor of all people has lived, an area of research that could be important for understanding of diseases linked to the (male) Y chromosome. But Amgen bought DeCode, and its access to Icelands population for $415 million two years ago. It didnt spend that kind of coin to find out about the mutation rate on the Y chromosome.

The hope has always been that these kinds of genetic data would lead to new drugs. And DeCode provides a series of huge leads. Scientists frequently try to figure out what genes do by knocking them out (that is, breaking them) in mice. Doing the same experiment in humans would be, of course, highly unethical.

Except that some people are born with naturally dysfunctional copies of some genes. And these can be clues to drugs. Theres even a great example: having a dysfunctional version of a gene called PCSK9 results in lower cholesterol levels and rates of heart disease. There are even people with two broken copies of the gene, including an aerobics instructor in Dallas who has levels of LDL, or bad cholesterol, of 14 milligrams per deciliter, compared to normal levels of more than 100 mg/dL.

Both Amgen and Regeneron have drugs (evolocumab and alirocumab) that block PCSK9 that will soon hit the market, in what is expected to be one of the most heated drug launches in years. Drug company executives hope that more genetic data would mean finding more genes like PCSK9 that could be useful drug targets.

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In A Genetic Portrait Of A Nation, A Map Of The Future

Its the most complete genetic map of an entire country yet completed and it could show clues of what medicine could look like in the coming age of big data.

Researchers working at DeCode Genetics, a unit of the drug company Amgen, have sequenced the genomes of 2,636 Icelanders and used genealogical records and more spotty genetic data to calculate the likely genetics of 101,584 more. Because DeCode has anonymized access to patient medical records, the company could then look for relationships between the genetic variants and disease and they found a new genetic variant that increases the risk of Alzheimers, as well as confiming suspected variants that raise the risk of diabetes and one that causes atrial fibrillation, a heart condition. The results are published in three scientific papers in the journal Nature.

Its certainly an impressive tour de force, says George Yancopoulos, the Chief Scientific Officer of Amgen rival Regeneron. This is certainly establishing a benchmark for all of us and showing the value of this type of analysis, in particular in the Icelandic population.

Regeneron is creating its own database of sequencing data with Pennsylvanias Geisinger Health Systems. The United Kingdom has embarked on a 100,000 Genomes Project. And President Obama has proposed linking together lots of ongoing sequencing projects into a database of 1 million volunteers. The DeCode experiment, started 18 years ago during the dot-com boom, is our first look at the kind of data that these gargantuan efforts could produce.

Some important basic science questions were answered. For instance, a lot of effort is put into figuring out when the most recent common male ancestor of all people has lived, an area of research that could be important for understanding of diseases linked to the (male) Y chromosome. But Amgen bought DeCode, and its access to Icelands population for $415 million two years ago. It didnt spend that kind of coin to find out about the mutation rate on the Y chromosome.

The hope has always been that these kinds of genetic data would lead to new drugs. And DeCode provides a series of huge leads. Scientists frequently try to figure out what genes do by knocking them out (that is, breaking them) in mice. Doing the same experiment in humans would be, of course, highly unethical.

Except that some people are born with naturally dysfunctional copies of some genes. And these can be clues to drugs. Theres even a great example: having a dysfunctional version of a gene called PCSK9 results in lower cholesterol levels and rates of heart disease. There are even people with two broken copies of the gene, including an aerobics instructor in Dallas who has levels of LDL, or bad cholesterol, of 14 milligrams per deciliter, compared to normal levels of more than 100 mg/dL.

Both Amgen and Regeneron have drugs (evolocumab and alirocumab) that block PCSK9 that will soon hit the market, in what is expected to be one of the most heated drug launches in years. Drug company executives hope that more genetic data would mean finding more genes like PCSK9 that could be useful drug targets.

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Amgen Releases A Giant Genetic Portrait Of A Nation -- And A Map Of The Future

Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 61
Make sure to leave baby names in the comments!. #VampireClan #VampireClan4Life.

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Posing - Iron-Genetics - Tolga Gn
Das letzte Video fr diese Definitionsphase, bin von knapp 80 kg auf knapp 75 kg gekommen, nun geht es wieder in den Aufbau. Ich bedanke mich bei allen Abonnenten die dazu gekommen sind und...

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Mower Genetics - Chilli papriky

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Big Dans Genetics in the house
18 and older medical marijuana channel Big Dans Cookie Monster.

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Lets Play The Sims 3 Perfect Genetics Part 18: Driving Lessons!
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Mindy H. Li, M.D., was honored as the 2015 recipient of the ACMG Foundation/PerkinElmer diagnostics Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah

BETHESDA, MD -March, 26 2015| Mindy H. Li, MD was honored as the 2015 recipient of the ACMG Foundation/PerkinElmer diagnostics Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

Dr. Li was selected to receive the award for her platform presentation, "Phenotype Capture and Utilization of a Common Electronic Health Record System to Evaluate Pediatric Individuals with Intellectual Disability Undergoing Exome Sequencing."

Dr. Li completed her MD at University of Illinois at Chicago, her Residency in Pediatrics at University of California, San Diego and Rady Children's Hospital, then completed her Residency in Medical Genetics at University of Pennsylvania and Children's Hospital of Philadelphia. She is currently completing her Postdoctoral Research Fellowship and is the Genetics Chief Resident at University of Pennsylvania and Children's Hospital of Philadelphia. Dr. Li received her Bachelor of Arts in in Spanish and her Bachelor of Science in Biological Sciences at University of Illinois at Chicago.

This award was created in 2008 by Signature Genomics to recognize an ACMG member, and first author of a platform presentation abstract for the scientific program. The ACMG Program Committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, PerkinElmer Diagnostics covers the travel costs for the recipient to the ACMG meeting.

"The ACMG Foundation for Genetic and Genomic Medicine is grateful to PerkinElmer Diagnostics for its continued generous support of the development of medical genetic researchers through this Travel Award," said Bruce R. Korf, MD, PhD FACMG, president of the ACMG Foundation for Genetic and Genomic Medicine.

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The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics; mission to "translate genes into health" by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301/718-2014.

Note to editors: To arrange interviews with experts in medical genetics, contact Kathy Beal, MBA, ACMG Director of Public Relations at kbeal@acmg.net or 301-238-4582.

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2015 ACMG Foundation/PerkinElmer Diagnostics Travel Award winner announced

NEW YORK (TheStreet) -- The next investor referendum on the resurgent gene-therapy field will arrive next month whenCelladon (CLDN)is expected to announce results from a mid-stage study of a gene therapy aimed atimproving the heart's pumping ability in patients suffering fromthe organ's advanced failure.

Gene therapy uses engineered viruses to replace defective, disease-causing genes. Celladon's lead therapy, Mydicar, is a virus engineered to insert a working gene capable of producing a protein called SERCA2a into heart-failure patients. SERCA2a is responsible for helping heart muscles contract and pump blood more efficiently. Heart-failure patients have low levels of SERCA2a and hearts that do a poor job pumping blood around the body. Celladon believes infusing Mydicar should lead to higher SERCA2a levels and improved heart function.

Must Read: 5 Stocks Warren Buffett Is Selling

Celladon went public in January 2014 at $8 per share. The stock was tradingat $24.10, down 1.8%, on Wednesday morning, after rising by more than 30% in March as investors anticipate the Mydicar study results.

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Celladon Heart-Failure Study Looms Large as Next Big Test for Gene Therapy

A simulation from the Neitz lab of what colorblindness looks like, with normal color vision on the left and red-green colorblindness on the right. Courtesy of Neitz Laboratory hide caption

A simulation from the Neitz lab of what colorblindness looks like, with normal color vision on the left and red-green colorblindness on the right.

More than 10 million Americans have trouble distinguishing red from green or blue from yellow, and there's no treatment for colorblindness.

A biotech company and two scientists hope to change that.

On Wednesday, Avalanche Biotechnologies in Menlo Park and the University of Washington in Seattle announced a licensing agreement to develop the first treatment for colorblindness. The deal brings together a gene therapy technique developed by Avalanche with the expertise of vision researchers at the University of Washington.

"Our goal is to be treating colorblindness in clinical trials in patients in the next one to two years," says Thomas Chalberg, the founder and CEO of Avalanche.

Dalton the squirrel monkey during the color vision test. Courtesy of Neitz Laboratory hide caption

Dalton the squirrel monkey during the color vision test.

The agreement has its roots in a scientific breakthrough that occurred six years ago. That's when two vision researchers at the University of Washington used gene therapy to cure a common form of colorblindness in squirrel monkeys.

"This opened the possibility of ultimately getting this to cure colorblindness in humans," says Jay Neitz, who runs the Color Vision Lab at UW along with his wife, Maureen Neitz.

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University And Biotech Firm Team Up On Colorblindness Therapy

A federal public servant has lost a legal bid to have taxpayers pay for experimental stem cell treatment on his dodgy knees.

The Administrative Appeals Tribunal has knocked back an appeal by Customs officer Vic Kaplicas to force insurer Comcare to pay $13,400 for the new treatment, instead saying he could have a tried-and-tested double knee replacement.

But the 49-year-old border official says he worries he cannot pass his department's fitness tests if he undergoes the knee replacements, which will leave him unable to run.

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The former triathlete, who had to give up his sport because of his bad knees, said he was keen to avoid the "radical but effective" replacements for as long as possible.

Mr Kaplicas hurt his left knee working at Sydney's Mascot Airport in 2000, then injured his right knee 10 years later at Kingsford-Smith.

He managed the pain in his knees, which have since developed osteoarthritis, for years using over-the-counter painkillers, physio, exercises and injections but Mr Kaplicas' doctors say a more permanent solution is now needed.

In June 2012, Sydney knee specialist Sam Sorrenti asked Comcare to pay for bilateral knee stem cell assisted arthroscopic surgery for Mr Kaplicas.

The cost of the procedure was estimated at $13,464.00 for arthroscopy, stem cell harvesting and injection, and a "HiQCell procedure".

Dr Sorrenti said the knee replacements were not a good idea for a man of Mr Kaplicas' age, arguing the new knees would last 15 years at best, were intended for older people who are less concerned with physical activity, and left no further options.

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No stem cell treatment for public servant's dodgy knee

Jayne Morrow, who suffers from multiple sclerosis, with her husband David.

A MUM-OF-THREE who suffers from a debilitating neurological condition could soon be making a life-changing journey to Russia.

Jayne Morrow, 47, from Ilfracombe, was diagnosed with multiple sclerosis (MS) eight years ago and has been battling the worsening effects of the condition ever since.

For Jayne, who suffers from chronic fatigue and numbness in her hand and torso, this has meant giving up her job as a personal trainer and forfeiting her driving licence.

In a bid to combat the condition, Jayne has now secured a place at a Russian clinic, where she will undergo a stem cell treatment known as HSCT.

Although the treatment is available on the NHS, it is currently only offered to those in the advanced stages of MS.

"Time isn't on my side," Jayne said. "I need it quite quickly everyone who suffers from MS does because it's a progressive illness.

"I don't want to be a burden to anybody. I can see in time being a complete write off."

More than 100,000 people in the UK are thought to suffer from MS. Although it is not fatal, for those living with the condition it can cause the loss of vision, extreme muscle spasms and loss of balance.

For Jayne, who lives in Ilfracombe, dealing with the consequences of the condition has proved difficult.

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Multiple sclerosis treatment on the cards for Ilfracombe mother

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Newswise March 24, 2015, NATIONAL HARBOR, Md. - Mesenchymal stem cell (MSC) transplantation reduced opioid tolerance and opioid-induced hyperalgesia caused by daily morphine injections in rats, according to new research. The results could herald stem cell transplantation as an innovative, safe, efficacious and cost-effective therapy to treat pain and opioid tolerance, said researchers, who presented results in a Plenary Research Highlight session at the 31st Annual Meeting of the American Academy of Pain Medicine.

Not only was opioid tolerance prevented when the rats were transplanted with MSC before repeated morphine injections, but tolerance was reversed when the rats were treated after opioid tolerance had developed, results demonstrated.

MSCs have a remarkable anti-inflammatory effect and a powerful anti-tolerance effect, said the studys principal investigator, Jianguo Cheng, M.D., Ph.D., who led the research team from the Cleveland Clinic, in Ohio. Although clinical trials are still three to five years away, he said, eventually, The results may apply to millions of patients with a wide range of pain states, including cancer pain and other intractable chronic pain that requires long-term opioid therapy.

Furthermore, Cheng characterized the procedure as practical, in light of readily available sources of stem cells, reliable stem cell technology, the simplicity of transplantation procedures and the fact that clinical trials are already underway involving autoimmune and other diseases.

The Institute of Medicine report on pain in America documented millions who suffer with chronic pain (Relieving Pain in America: A Blueprint for Transforming Prevention, Care, Education, and Research. National Academies Press [US]; 2011). Opioid therapy is a cornerstone component of pain management for many people with severe, ongoing pain; however, side effects such as tolerance and the risks posed by abuse, addiction and drug overdose limit its utility. Tolerance, a physiologic process in which the patients body adjusts to a dose and no longer achieves pain relief, is a common limitation with opioid therapy. The higher doses that result can limit effectiveness and compromise safety.

Glial cells are of growing interest in pain research and have been implicated in the development of tolerance. Glial cell activity also produces pain through the release of products that excite the nervous system, playing an important role in the spinal cord during nerve injury. Furthermore, the opioids used to treat pain, also can induce glial activity, causing pain relief to drop and unwanted opioid effects, including tolerance, dependence, reward and decreased breathing, to grow. A focus of research, then, is to separate the desired effect of pain relief from the unwanted opioid effects (Watkins et al, Trends in Pharmacological Sciences 2009;30(11): 581-91).

Interest in transplant of stem cells is another maturing research avenue (Hsu et al, Cell Transplant 2007;16(2):133-50). MSCs can differentiate into a variety of cell types and have been investigated for potential repair of damaged neural cells and for calming inflammation in the immune system to promote recovery after traumatic brain injury (Zhang et al, J Neuroinflammation 2013;10(1):106).

Following this line of research, the study investigators wondered whether they could create an anti-tolerance therapy by transplanting MSCs into the intrathecal space surrounding the spinal cord. With approval by the Cleveland Clinic Institutional Animal Care and Use Committee and funding through the Department of Defenses Congressionally Directed Medical Research Programs, they compared the withdrawal thresholds of the hind paws in response to painful mechanical and thermal stimuli in two groups of rats that received daily morphine injections. The first group was treated with MSC transplantation and the control group with phosphate-buffered saline (PBS).

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Cleveland Clinic Researchers First to Demonstrate Significant Blocking of Opioid Tolerance With Mesenchymal Stem Cell ...

Stem Cell Therapy - Lilli Donovan
Created using PowToon -- Free sign up at http://www.powtoon.com/join -- Create animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool...

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COMPARE CORD BLOOD BANKS

Choosing the right stem cell bank for your family is rarely a quick decision. But when you review the facts, you may find it much easier than you expected. Keep Reading >

1. The collection of cord blood can only take place at the time of delivery, and advanced arrangements must be made.

Cord blood is collected from the umbilical cord immediately after a babys birth, but generally before the placenta has been delivered. The moment of delivery is the only opportunity to harvest a newborns stem cells.

2. There is no risk and no pain for the mother or the baby.

The cord blood is taken from the cord once it has been clamped and cut. Collection is safe for both vaginal and cesarean deliveries. 3. The body often accepts cord blood stem cells better than those from bone marrow.

Cord blood stem cells have a high rate of engraftment, are more tolerant of HLA mismatches, result in a reduced rate of graft-versus-host disease, and are rarely contaminated with latent viruses.

4. Banked cord blood is readily accessible, and there when you need it.

Matched stem cells, which are necessary for transplant, are difficult to obtain due to strict matching requirements. If your childs cord blood is banked, no time is wasted in the search and matching process required when a transplant is needed. 5. Cells taken from your newborn are collected just once, and last for his or her lifetime.

For example, in the event your child contracts a disease, which must be treated with chemotherapy or radiation, there is a probability of a negative impact on the immune system. While an autologous (self) transplant may not be appropriate for every disease, there could be a benefit in using the preserved stem cells to bolster and repopulate your childs blood and immune system as a result of complications from other treatments.

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Stem Cell Research - Stem Cell Treatments - Treatments ...

BETHESDA, MD. (March, 24, 2015) - The newest gene editing tool - called CRISPR-Cas9 - is leading to new research possibilities in cell biology and neuroscience. This includes the ability to make transgenic animal models more quickly, which helps researchers better study diseases that affect thousands of people each year. Using CRISPR-Cas 9 technology, transgenic mouse models- which are models that contain DNA isolated from one organism transferred into a different organism- are created in a matter of three weeks versus six months. This means the study of gene mutations and potential therapies happens much more rapidly.

A leading researcher in this field of study is Feng Zhang, Ph.D., of the Broad Institute of Massachusetts Institute of Technology. Dr. Zhang is the 2015 recipient of the American Association of Anatomists (AAA) C.J. Herrick Award in Neuroanatomy for his work with the CRISPR-Cas9 genome manipulation technology. On Monday March 30th 2015, Dr. Zhang will lead a lecture, "Development and Applications of CRISPR-Cas9 for Genome Manipulations," at the AAA annual meeting at Experimental Biology 2015.

"One of my long-term goals is to develop CRISPR-Cas9 as a therapeutic strategy, and to do that, we must first concentrate on deploying and refining the technique in vivo. This will help us create better models of disease, identify mechanisms and causal mutations, and make definitive diagnoses," said Dr. Zhang.

Dr. Zhang's talk will focus on the latest developments in CRISPR-Cas9 technology, including applications to study gene function in vivo as well as high throughput screening assays to help speed the level of development is basic science trials. Dr. Zhang's plans to use this technology to study disorders such as Huntington's disease, autism and schizophrenia.

Dr. Zhang will present the findings during the AAA annual meeting at Experimental Biology 2015 meeting on Monday, March 30 from 5:30 - 6:15 p.m. at the Neurobiology Award Hybrid Symposia in room 104AB, Boston Convention and Exhibition Center.

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About AAA: The American Association of Anatomists (AAA) was founded by Joseph Leidy in Washington, D.C. in 1888 for the "advancement of anatomical science." Today, via research, education and professional development activities, AAA serves as the professional home for an international community of biomedical researchers and educators focusing on the structural foundation of health and disease.

About Experimental Biology (EB): EB is an annual meeting comprised of over 14,000 scientists representing six sponsoring societies and multiple guest societies. Primary focus areas include anatomy, physiology, pathology, biochemistry, nutrition and pharmacology. EB is open to all members of the sponsoring and guest societies and nonmembers interested in the latest research impacting life sciences. Attendees represent scientists, academic institutions, government agencies, non-profit organizations and private corporations.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Gene editing technology investigator honored for groundbreaking research

Irvine, CA (PRWEB) March 25, 2015

Proove Biosciences, a commercial and research leader in Personalized Medicine, is excited to announce the success of their commercially supported symposium, Personalized Medicine: Incorporating Genetic Testing to Optimize the Management of Pain, at the 31st Annual American Academy of Pain Medicine conference in National Harbor, Maryland on Thursday, March 19th, 2015.

The symposiums faculty, which consisted of former AAPM President Lynn Webster, M.D., former Florida Society of Interventional Pain Physicians President Sanford Silverman, M.D., and local D.C. pain physician Abraham Cherrick, M.D. presented supporting data for Prooves proprietary genetic tests; tests that are designed to objectively guide clinical decisions in screening for opioid contraindications, improve medication efficacy, and avoid adverse drug events.

Most people don't realize the tremendous variability people have to the same painful stimulus. This is why some people hurt while other don't seem to be bothered by the same type of trauma. states Lynn Webster, M.D. It is now clear that pain sensitivity is significantly influenced by our genes. Scientist are able to identify pain reducing genes and pain elaboration genes.

Webster, M.D. continues, Although it is only an emerging field it is exciting because genotyping may allow us to identify people who are more likely to respond to one drug than another. Even more importantly, genotyping offers potential to identify individuals who may have side effects or toxicity to certain drugs. This means genetic testing can lead to safer and more effective therapy. Personalized medicine uses genetic testing to optimize pain management and many other areas in medicine.

About Proove Biosciences Our Mission is to Change the Future of Medicine. Proove is the proof to improve healthcare decisions. We seek to realize a future when clinicians look back and wonder how they couldve ever prescribed medications without knowing how a patient would respond. With offices in Southern California and the Baltimore-Washington metropolitan area, the Company is the research leader investigating and publishing data on the genetics of personalized pain medicine with clinical research sites across the United States. Physicians use Proove Biosciences testing to improve outcomes both safety and efficacy of medical treatment. From a simple cheek swab collected in the office, Proove performs proprietary genetic tests in its CLIA-certified laboratory to identify patients at risk for misuse of prescription pain medications and evaluate their metabolism of medications. For more information, please visit http://www.proove.com or call toll free 855-PROOVE-BIO (855-776-6832).

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Proove Biosciences Hosts Symposium on Incorporating Genetic Testing to Optimize the Management of Pain

Media Coverage for International Medical Genetics Conference 2014
International Medical Genetic Conference 2014.

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Genetics: How you past can impact your present
Genetics are often discussed as one potential cause for developing depression and anxiety. Elisa shares how her childhood experiences within her family impacted her family, and how God is bringing.

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Amy Kritzer, M.D., of Boston Children's Hospital and Ronit Marom, M.D., Ph.D., of Baylor College of Medicine receive the 2015-2016 Genzyme/ACMG Foundation for Genetic and Genomic Medicine Medical Genetics Training Award in Clinical Biochemical Genetics

Amy Kritzer, MD of Boston Children's Hospital and Ronit Marom, MD PhD of Baylor College of Medicine were honored as the 2015-2016 recipients of the Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics at the ACMG 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

The objective of the two Genzyme/ACMG Foundation Awards is to support training programs that advance education, research and standards of practice in medical genetics, to develop and expand clinical and laboratory expertise in medical genetics, and to initiate and develop a broad-based infrastructure for industry funding of high quality projects in the fields of medical genetics. Two awardees are given the opportunity to participate in an in-depth clinical and research experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics.

The Award grants $75,000 per year to each of two recipients' institutions selected by the ACMG Foundation through a competitive process and will provide for the sponsorship of one year of the trainees' clinical genetics subspecialty in biochemical genetics following residency.

Dr. Kritzer received her MD from Albert Einstein College of Medicine; completed her Pediatrics Residency at Floating Hospital for Children in Boston, MA and her clinical genetics fellowship at Boston Children's Hospital. Her research during the award period will focus on direct detection of glycophospholipids in lysosomal disease using advanced spectroscopy. "I am so honored to be given this wonderful award. It will allow me to continue my Biochemical Genetics Training while also giving me an opportunity to conduct translational research. The goal of my research is to provide patients with lysosomal disease and their families with better information about the disease process, prognosis and effect of therapeutic interventions."

The second award recipient, Dr. Marom, is currently in her second year of residency in Medical Genetics at Baylor College of Medicine. She said, "It is an honor, and I am grateful to be one of the recipients of the Genzyme/ACMG Foundation award. The Biochemical Genetics fellowship will broaden my knowledge and understanding of a wide range of metabolic disorders, and will allow me to become actively involved in the care of patients with inborn errors of metabolism. The outstanding research and academic environment at Baylor College of Medicine will provide me with the clinical and research training necessary to achieve my goal of becoming a physician-scientist in the area of biochemical genetics." Dr. Marom completed her MD and PhD at Sackler School of Medicine, Tel Aviv University in Tel Aviv, Israel; she then completed her Pediatrics Residency at the Tel Aviv Sourasky Medical Center in Tel Aviv, Israel and her Fellowship in Genetics at Baylor College of Medicine in Houston, Texas. Her research will focus on nitric oxide supplementation as a therapy in argininosuccinate lyase deficiency.

"The Genzyme/ACMG Foundation Clinical Genetics Award in Clinical Biochemical Genetics is critical to the development of the genetics workforce. This fellowship allows Dr. Kritzer and Dr. Marom the chance to receive advanced clinical and research training in biochemical genetics, which is a field that is rapidly changing ," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

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Since 2005, the Genzyme Corporation has generously sponsored this prestigious award, and in 2012 they doubled their commitment for the 2012 through 2016 Fellowships. The ACMG Foundation is honored to have the Genzyme Corporation as a member of its Corporate Partners Program. For more information about the Corporate Partners Program and other ways to support the work of the ACMG Foundation, please visit http://www.acmgfoundation.org.

Note to editors: To arrange interviews with experts in medical genetics, contact Kathy Beal, MBA, ACMG Director of Public Relations at kbeal@acmg.net or 301-238-4582.

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Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics

Patricia L. Hall, Ph.D., FACMG of Emory University is the recipient of the 2015 Richard King Trainee Award for the best publication in ACMG's academic journal, Genetics in Medicine

Patricia L. Hall, PhD, FACMG of Emory University is the recipient of the 2015 Richard King Trainee Award. This award was instituted by the ACMG Foundation for Genetic and Genomic Medicine to encourage ABMGG, international equivalents or genetic counseling trainees in their careers and to foster the publication of the highest quality research in ACMG's peer-reviewed journal, Genetics in Medicine (GIM).

Each year the editorial board reviews all articles published in GIM by an ABMGG or genetic counseling trainee who was either a first or corresponding author during that year. The manuscript considered to have the most merit is selected by the editorial board and a cash prize, along with meeting expenses, is awarded at the 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, Utah.

Dr. Hall was given the award for her manuscript titled, "Postanalytical tools improve performance of newborn screening by tandem mass spectrometry" which was published in the December 2014 issue of Genetics in Medicine. The corresponding author was Piero Rinaldo, MD, PhD, FACMG of the Mayo Clinic. Dr. Hall is currently a Director in the Biochemical Genetics Laboratory at Emory University, "It is an honor to have the hard work and dedication of everyone involved with our newborn screening paper recognized with the Richard King Trainee Award for best publication."

The award is given by the ACMG Foundation and is named for Dr. Richard King in recognition of his instrumental role in creating Genetics in Medicine and serving as the first and founding Editor-in-Chief of the journal.

Eligible trainees include those in the following programs: Clinical Biochemical Genetics; Clinical Cytogenetics; Clinical Molecular Genetics Combined Internal Medicine/Genetics; Combined Pediatrics/Genetics; PhD Medical Genetics and Genetic Counseling.

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The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics and genetic counseling in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to promote the profession of medical genetics and genomics to medical students, to fund the training of future medical geneticists, to support best-practices and tools for practicing physicians and laboratory directors, to promote awareness and understanding of our work in the general public, and much more.

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Patricia Hall, Ph.D., earns 2015 King Trainee Award for best publication, Genetics in Medicine

Anne O'Donnell Luria, M.D., Ph.D., Boston Children's Hospital; Mari Mori, M.D., Duke University; Laurie Robak M.D., Ph.D., Baylor College of Medicine receive Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Aw

Anne O'Donnell Luria, MD, PhD, of Boston Children's Hospital, Mari Mori, MD of Duke University, and Laurie Robak MD, PhD of Baylor College of Medicine were honored as the 2015-2016 recipients of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

The objective of this fellowship is to provide an in-depth clinical research training experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics, including lysosomal storage diseases, as well as in therapeutics and clinical trials involving patients with these and other metabolic diseases and, thereby, to increase the number of medical geneticists with interest, knowledge, and expertise in this area.

This Award grants $75,000 per year to the three recipients selected by the ACMG Foundation through a competitive process and will provide for the sponsorship of one year of the trainee's clinical genetics subspecialty in translational genomics following residency.

Dr. O'Donnell Luria received her MD and PhD at Columbia University, New York, and is currently completing a combined residency in Pediatrics and Medical Genetics at Boston Children's Hospital, Boston MA. "I am honored to receive the Pfizer/ACMG Foundation Translational Genomics Scholars Fellowship Award. I appreciate the support from Pfizer and the ACMG Foundation to gain additional training in biochemical genetics. I am grateful for the excellent training environment provided by wonderful clinicians, staff, and families that I have had the pleasure to work and train with at Harvard Medical School, Boston Children's Hospital, and Massachusetts General Hospital. This fellowship supports my efforts to begin a research program looking at transcriptional and epigenetic variation in lysosomal storage disease, with an aim of identifying new biomarkers of disease and potential therapeutic targets." Her research during the award period will focus on diagnosis and management of infants, children and adults with inborn errors of metabolism and the impact of epigenetic alterations.

Dr. Mori received her MD at Nagasaki University School of Medicine, Nagasaki, Japan, and MS in Biomedical Informatics at University of Pittsburgh, Pittsburgh PA. She is currently completing her Medical Biochemical Genetics Fellowship at Duke University Medical Center, Durham, NC, after completing a General Genetics Residency at Nationwide Children's Hospital/Ohio State University in Columbus, OH. Her research during the award period will focus on the identification of modifier genes from carefully phenotyped patients with Pompe disease at Duke University Medical Center. "I am deeply honored to be one of the recipients of the Pfizer/ACMG Foundation award. The award allows me to extend my biochemical genetics training to investigate factors that affect variable phenotypes of Pompe disease, under the guidance of Dr. Priya Kishnani, Professor of Pediatrics Division Chief, Medical Genetics at Duke University. The research would lead to a better understanding of prognostication of rare Mendelian diseases, and would have clinical impacts, especially for asymptomatic patients with a lysosomal disease detected by newborn screening."

Dr. Robak received her MD and PhD at University of Rochester, Rochester NY, and is currently completing her combined residency in Pediatrics and Medical Genetics at Baylor College of Medicine. Her research during the award period will focus on exploring the links between Lysosomal Storage Disorders and Parkinson 's disease at Baylor College of Medicine. "I am honored to be a recipient of the 2015 Pfizer/ACMG Foundation Fellowship Award. This June, I will be completing my combined Pediatrics/Medical Genetics residency at Baylor College of Medicine. This prestigious award will allow me to continue my research investigating potential links between lysosomal storage disorders and adult-onset neurodegenerative disorders. My project will be under the guidance of Dr. Joshua Shulman, Assistant Professor of Neurology and Molecular & Human Genetics at Baylor College of Medicine. By providing critical support during my transition from residency to junior faculty, this fellowship will promote my successful career development as a physician-scientist."

"With all of the advances in genomics, the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars presents an important opportunity to develop new approaches to diagnosis and treatment of genetic disorders. This fellowship is therefore a key component of our initiative to train physician scientists to be leaders in translational research in medical genomics," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

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Note to editors: To arrange interviews with experts in medical genetics, contact Kathy Beal, MBA, ACMG Director of Public Relations at kbeal@acmg.net or 301-238-4582.

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Dr. Luria, Mori and Robak receive Pfizer/ACMG Foundation Translational Genomic Fellowship Award