"She #39;s Happy" RMG #39;s next Stem Cell Miracle
Meet Mary Taylor, she was blind for four years from wet and dry Macular Degeneration. Her son Richard, was a previous patient of Regenerative Medical Group, as he received treatment for his...

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Newswise DALLAS January 21, 2015 Prolonged use of a left ventricular assist device (LVAD) by patients with heart failure may induce regeneration of heart muscle by preventing oxidative damage to a cell-regulator mechanism, UTSouthwestern Medical Center investigators have found.

LVADs are mechanical pumps that are sometimes implanted in patients who are awaiting heart transplants. LVADs substitute for the damaged heart by pumping blood throughout the body.

Dr. Hesham Sadek, Assistant Professor of Internal Medicine at UTSouthwestern, is senior author of the study, which looked at pre- and post-LVAD samples of heart muscle in 10 patients with heart failure. The study authors examined the paired tissue samples for markers of DNA damage and cell proliferation.

Their study builds on earlier work with mice that demonstrated that newborn mammalian hearts are capable of a strong, regenerative response to injury by activating cell division. The earlier studies further showed that the ability to respond to injury is lost due to changes in circulation that occur after birth, which lead to a more oxygenated environment in the heart, ultimately causing oxidative damage to the cellular machinery that controls heart-muscle regeneration.

In the current study, the investigators reasoned that, by assisting the damaged heart, LVADs would alleviate oxidative damage that occurs within the heart-muscle cells.

We looked at markers of what is called the DNA damage response in cardiomyocytes (heart-muscle cells) of these patients, said Dr. Sadek. The response is composed of a cascade of proteins that is activated in response to DNA damage and in turn shuts off the ability of cardiomyocytes to divide. We found that patients who were on LVAD for more than six months had significantly decreased levels of DNA damage response.

Next, the investigators examined the paired tissue samples for markers of cell division. They found that patients who were on LVADs for six months or longer had a significant increase in cardiomyocyte proliferation. The increase in cell proliferation was nearly triple, in fact.

This result shows that patients with mechanical assist devices have the ability to make their muscle cells divide, said Dr. Sadek. And the obvious question now is, Are these hearts regenerating? Could LVADs be used as a cure for heart failure?

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The family of tragic baby Tiarna Middleton are clinging to hope for a change in medical rules after a ground-breaking transplant operation took place in London.

Medical guidelines prevented Tiarna, who died last year, from receiving a donor heart from a newborn baby.

However a six-day-old baby girls kidneys and liver cells have since been given to two separate recipients in an operation being described as a medical milestone in neo-natal care.

Tiarna died aged 18 days after becoming the youngest baby in the world ever to be fitted with a Berlin heart in a world first operation at the Freeman Hospital in Newcastle.

It was hoped the artificial device would keep her alive long enough for a donor heart to become available. But in the UK it is currently recommended that babies under two months old should not become donors due to difficulties in ascertaining whether they are officially brain-stem dead.

Without the availability of a tiny newborn heart, medics had to look to hospitals in France and Spain for help, however Tiarna died before one suitable was found.

Her mum Sharney Gray, of Rowlands Gill in Gateshead, said: I think that this just goes to show though how many lives can be saved if they do change the rules and I do think this operation is a sign that they will change things soon. I think hundreds and hundreds of lives could be saved.

It must have been an incredibly hard decision for that family to make to let their baby become a donor.

The team from the Royal College of Paediatrics and Child Health has spent the past year reviewing current medical guidelines on newborn donations. Their findings are due to be released later this year.

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Ground-breaking transplant operation gives tragic Gateshead family fresh hope for change

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"She #39;s Happy" RMG #39;s next Stem Cell Miracle
Meet Mary Taylor, she was blind for four years from wet and dry Macular Degeneration. Her son Richard, was a previous patient of Regenerative Medical Group, as he received treatment for his...

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Cloning Genetic Engineering

By: Rejaul Alam

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Scientists reprogrammed the common bacterium E. coli so it requires a synthetic amino acid to live. BSIP/UIG via Getty Images hide caption

Scientists reprogrammed the common bacterium E. coli so it requires a synthetic amino acid to live.

Researchers at Harvard and Yale have used some extreme gene-manipulation tools to engineer safety features into designer organisms.

This work goes far beyond traditional genetic engineering, which involves moving a gene from one organism to another. In this case, they're actually rewriting the language of genetics.

The goal is to make modified organisms safer to use, and also to protect them against viruses that can wreak havoc on pharmaceutical production.

To understand what they've done, you may need to remember a bit of basic biology. The enzymes and other proteins in our bodies are all built from building blocks called amino acids. There are usually just 20 amino acids in nature. But George Church, a professor of genetics at Harvard Medical School, has created a bacterium that requires an additional amino acid, one made in the lab and not found in nature. His lab did that by rewriting the bacteria's genetic language to add a "word" that calls for this unnatural amino acid.

"So this really makes it a completely new branch of life," Church says.

These modified E. coli bacteria essentially speak a different genetic language from all other life on Earth. That means they can't easily swap genes, which bacteria often do to pick up or get rid of traits. And it also means that these modified E. coli must be fed the synthetic amino acid to survive.

"It will die as soon as you remove that essential nutrient," Church says.

The scientists say this radical re-engineering actually makes these synthetic life forms safer, because if they escape into the wild they'll die. One key question is whether these engineered bacteria can shed the traits that make them dependent on the synthetic amino acid. (Bacteria mutate all the time, picking up new traits and dropping others).

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Scientists Give Genetically Modified Organisms A Safety Switch

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Mediscan/Corbis

Synthetic biologists hope to treat disease in the gut by making Lactobacillus bacteria (pictured) that are dependent on an artificial amino acid.

Critics of genetic engineering have long worried about the risk of modified organisms escaping into the environment. A biological-containment strategy described this week in Nature1, 2 has the potential to put some of those fears to rest and to pave the way for greater use of engineered organisms in areas such as agriculture, medicine and environmental clean-up.

Two US teams have produced genetically modified (GM) bacteria that depend on a protein building block an amino acid that does not occur in nature. The bacteria thrive in the laboratory, growing robustly as long as the unnatural amino acid is included in their diet. But several experiments involving 100billion or more cells and lasting up to 20days did not reveal a single microbe capable of surviving in the absence of the artificial supplement.

Our strains, to the extent that we can test them, wont escape, says Dan Mandell, a synthetic biologist at Harvard Medical School in Boston, Massachusetts, and an author on one of the two studies describing the strategy.

The microbes also do not swap their engineered DNA with natural counterparts because they no longer speak lifes shared biochemical language. Establishing safety and security from the get-go will really enable broad and open use of engineered organisms, says Farren Isaacs, a synthetic biologist at Yale University in New Haven, Connecticut, who led the other study.

Biocontainment could provide added safety in the biological production of drugs or fuels, where microbes can be kept separate from their surroundings. But the modified bacteria could also permit controlled release into the human body or the environment. Containment might no longer be of the physical kind, says Tom Ellis, a synthetic biologist at Imperial College London who was not involved in the research.

The new technique originated in the laboratory of George Church, a geneticist at Harvard Medical School. Two years ago, Church and his team (which included Isaacs) reported the synthesis of a strain of Escherichia coli that had a reprogrammed genetic code3. Instead of recognizing a particular DNA triplet known as the amber stop codon as an order to terminate protein synthesis, the recoded bacterium read the same instruction as a directive to incorporate a new kind of amino acid into its proteins.

Church and Isaacs have independently made this engineered microbe reliant on unnatural amino acids. The Isaacs team used genomic sequencing to identify sites in essential bacterial proteins where the microbes could incorporate synthetic amino acids without affecting overall function, whereas Churchs group started with the protein structures and added elements to help integrate and accommodate the artificial amino acids.

This is really the culmination of a decade of work, says Church.

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In his hour-long State of the Union address Tuesday night, President Obama spent a few seconds announcing a "Precision Medicine Initiative," but did little to explain what he has in mind. Background materials distributed by the White House show that Obama wants to invest in this "innovative field that provides healthcare professionals with tools, knowledge and treatments to tailor care to a person's unique characteristics--such as their genetic makeup."

Here's a primer on "precision medicine," a term you'll doubtless hear more about in years to come.

What is precision medicine?

Clinically, experts don't even agree on a single term for it. But "individualized," "personalized," and "precision," medicine are all used to convey the same idea, according to Gianrico Farrugia, former director of the Mayo Clinic's Center for Individualized Medicine: "rather than treating a person as [part of] a group, treat the person as an individual, based on [his or her] own genetic material, to enable us to provide individualized, personalized and precise care."

On a grander scale, said Keith Yamamoto, vice-chancellor for research at UC San Francisco, precision medicine envisions collecting enormous amounts of information -- not just from humans, but from other species and from basic science research -- and crunching that data to identify ways to diagnose and treat individuals.

What does that mean for me, in a practical sense?

Let's say you have cancer. By analyzing the makeup of a tumor, doctors may be able to better choose which drug to use, rather than employing a hit-and-miss approach based on knowledge of your form of cancer. The use of Tamoxifen for one form of breast cancer is a good example. And they can track the evolution of the tumor over time, to determine whether you need a different drug. If you need medication for another kind of illness, analyzing part of your genome might allow physicians to avoid ineffective or even dangerous drugs that interact poorly with your personal makeup.

All of this followed the completion of the Human Genome Project in 2003. As my colleague Brady Dennis wrote last year: "For reasons scientific and economic, one-size-fits-all blockbuster drugs are giving way to treatments tailored to individuals genetic makeups and aimed at narrow subsets of broader diseases."

Other possible applications: alternatives to opioids for pain relief, drugs for specific psychological illnesses, a drug for a small sliver of the people who suffer from cystic fibrosis.

What if I'm healthy? Can precision medicine do anything for me?

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Newswise NEW YORK, January 21, 2015 New York metropolitan area Ashkenazi Jewish women and men aged 25 and older can now opt to undergo testing for the three common Ashkenazi Jewish BRCA founder mutations at a fraction of the commercial price, thanks to a new, philanthropy-based initiative from the Program for Jewish Genetic Health (PJGH), a not-for-profit organization affiliated with Yeshiva University and Albert Einstein College of Medicine (Einstein), in conjunction with Montefiore Health System (Montefiore). This initiative, the first of its kind in the United States, makes this testing available to all Ashkenazi Jewish individuals, regardless of their BRCA-related cancer histories or their insurance/financial situations, both of which have been barriers to date.

Most insurance companies currently require people to already have had family members with cancer if they want to be covered for BRCA genetic testing, said Susan Klugman, MD, medical director for the Program for Jewish Genetic Health, director of the division of reproductive genetics at Montefiore, and professor of clinical obstetrics & gynecology and women's health at Einstein. We at the Program for Jewish Genetic Health are not willing to wait for that.

Background Approximately 1 in 40 individuals of Ashkenazi Jewish descent carries one of three founder mutations in the BRCA1 or BRCA2 genes, a carrier rate tenfold higher than that of the general population. Females carrying a BRCA mutation face a significantly higher risk of developing breast and ovarian cancer in their lifetime, while male BRCA mutation carriers are at higher risk of developing prostate and breast cancer, among other cancers. BRCA carriers also have a 50 percent chance of passing the altered gene on to each of their offspring, who in turn will have an increased susceptibility for these cancer types. Individuals who find out that they are BRCA carriers through genetic testing have cancer risk-reducing and reproductive options.

Today, most health insurance policies cover BRCA testing only for those who are considered at high risk to have a BRCA mutation those with a significant personal or family history of these cancers. However, individuals who are at low risk to have a BRCA mutation those who do not have a significant personal or family history of cancer along with those with no health insurance, are faced with steep out-of-pocket costs. Testing for the three common Ashkenazi Jewish BRCA founder mutations via the traditional, commercial-based process can cost more than $600 for these low risk and uninsured individuals. The Program for Jewish Genetic Health is now providing testing for $100, along with complimentary pre-test genetic counseling courtesy of Montefiore.

According to the PJGH, one of the primary goals of the new initiative, that also includes a research component, is to identify new BRCA mutation carriers in this low-risk group who otherwise would have gone undetected. Recent studies from Israel have reaffirmed that the 1 In 40 carrier rate in Ashkenazi Jews also applies to these low risk individuals, and suggest that the risks to develop cancer in BRCA carriers coming from both low risk and high risk families may be more equivalent than originally thought.

The Process Interested participants aged 25 and older who self-identify as Ashkenazi Jewish will begin by visiting the PJGHs BRCAcommunity Study website (http://brcacommunitystudy.einstein.yu.edu/), where they can learn more about BRCA and the initiative, and then be directed to complete a detailed demographic form and personal/family history questionnaire. The PJGHs genetic counselors will analyze all responses and assign each participant into one of two groups. Those who meet National Comprehensive Cancer Network (NCCN) testing criteria (high risk) will be offered comprehensive genetic counseling and BRCA genetic testing through standard-of-care insurance-based processes. These individuals will be scheduled for appointments at the PJGHs clinical affiliate, the Division of Reproductive Genetics at Montefiore, or directed to the National Society of Genetic Counselors (NSGC) website to identify other available genetic counselors.

Individuals not meeting NCCN testing criteria will be considered low risk and invited for a group genetic counseling session which will be provided free-of-charge. After the session, those who would like to proceed with testing will submit a saliva sample that will be tested for the three common Ashkenazi Jewish BRCA gene mutations at the subsidized rate; this rate is thanks in part to a generous grant from the Foundation for Medical Evaluation and Early Detection.

When test results are available, all participants in either group who are found to be carriers will be scheduled for an in-person genetic counseling appointment to review their results. These individuals will be counseled about screening and risk-reducing and reproductive options, advised to inform their at-risk relatives about their genetic test results, and directed to support resources, in part through the network of the Program for Jewish Genetic Health. High risk participants who are not found to be carriers of the three common BRCA mutations will be counseled appropriately, including given the option to undergo more comprehensive genetic testing.

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Global research alliance ENIGMA finds 8 common gene mutations leading to brain age in over 30,000 brain scans that may some day unlock mysteries of Alzheimer's, autism and other neurological disorders

LOS ANGELES -- In the largest collaborative study of the brain to date, researchers from the Keck School of Medicine of the University of Southern California (USC) led a global consortium of 190 institutions to identify eight common genetic mutations that appear to age the brain an average of three years. The discovery could lead to targeted therapies and interventions for Alzheimer's disease, autism and other neurological conditions.

An international team of roughly 300 scientists known as the Enhancing Neuro Imaging Genetics through Meta Analysis (ENIGMA) Network pooled brain scans and genetic data worldwide to pinpoint genes that enhance or break down key brain regions in people from 33 countries. This is the first high-profile study since the National Institutes of Health (NIH) launched its Big Data to Knowledge (BD2K) centers of excellence in 2014. The research was published Wednesday, Jan. 21, in the peer-reviewed journal Nature.

"ENIGMA's scientists screen brain scans and genomes worldwide for factors that help or harm the brain -- this crowd-sourcing and sheer wealth of data gives us the power to crack the brain's genetic code," said Paul Thompson, Ph.D., Keck School of Medicine of USC professor and principal investigator of ENIGMA. "Our global team discovered eight genes that may erode or boost brain tissue in people worldwide. Any change in those genes appears to alter your mental bank account or brain reserve by 2 or 3 percent. The discovery will guide research into more personalized medical treatments for Alzheimer's, autism, depression and other disorders."

The study could help identify people who would most benefit from new drugs designed to save brain cells, but more research is necessary to determine if the genetic mutations are implicated in disease.

The ENIGMA researchers screened millions of "spelling differences" in the genetic code to see which ones affected the size of key parts of the brain in magnetic resonance images (MRIs) from 30,717 individuals. The MRI analysis focused on genetic data from seven regions of the brain that coordinate movement, learning, memory and motivation. The group identified eight genetic variants associated with decreased brain volume, several found in over one-fifth of the world's population. People who carry one of those eight mutations had, on average, smaller brain regions than brains without a mutation but of comparable age; some of the genes are implicated in cancer and mental illness.

In October 2014, the NIH invested nearly $32 million in its Big Data Initiative, creating 12 research hubs across the United States to improve the utility of biomedical data. USC's two BD2K centers of excellence, including ENIGMA, were awarded a total of $23 million over four years.

"The ENIGMA Center's work uses vast datasets as engines of biomedical discovery; it shows how each individual's genetic blueprint shapes the human brain," said Philip Bourne, Ph.D., associate director for data science at the NIH. "This 'Big Data' alliance shows what the NIH Big Data to Knowledge (BD2K) Program envisions achieving with our 12 Centers of Excellence for Big Data Computing."

###

Other USC co-authors include Derrek P. Hibar, Neda Jahanshad and Arthur Toga. ENIGMA was supported in part by a Consortium grant (U54 EB020403) from the NIH BD2K Initiative, supported by a cross-NIH partnership, and by public and private agencies worldwide.

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Genetics Program Graduation Ceremony December 2014
Congratulations to all of our wonderful December 2014 graduates! We wish you all of the very best in success!

By: NC State University Genetics Program

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20. Human Genetics, SNPs, and Genome Wide Associate Studies
MIT 7.91J Foundations of Computational and Systems Biology, Spring 2014 View the complete course: http://ocw.mit.edu/7-91JS14 Instructor: David Gifford This lecture by Prof. David Gifford...

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Timeout Testers from RedEyed Genetics Day 1 of /12
Lush Lightings Dominator 2x XL with Greenstone Nutrients growing the Timeout testers from RedEyed Genetics at Day 1 of Flower.

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UVA Cardiovascular Genetics Clinic: Genetics Testing Inherited Heart Conditions
UVA Cardiovascular Genetics Clinic - http://uvahealth.com/ Genetics Counselor, Matt Thomas, discusses his role in the cardiovascular genetics clinic and the importance of genetics testing....

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Award recognizes extraordinary level of creativity and intellectual ingenuity in solving significant problems in genetics research

BETHESDA, MD - The Genetics Society of America (GSA) is pleased to announce that Sue Biggins, PhD (Fred Hutchinson Cancer Research Center) has been awarded the Society's Edward Novitski Prize. The award recognizes Dr. Biggins' extraordinary level of creativity and intellectual ingenuity in solving significant problems in genetics research--namely, her groundbreaking research on the molecular mechanisms of chromosome segregation, a process essential for cell division and frequently impaired in cancer.

"Dr. Biggins' work represents a single integrated attack on the biochemistry, structure, biophysics, and biology of a sophisticated molecular machine responsible for the accuracy of chromosome segregation," said Needhi Bhalla, PhD, Assistant Professor of Molecular, Cell & Developmental Biology at the University of California, Santa Cruz. "Her perseverance, innovation, and intellectual creativity produced extraordinary insights into the mechanics of chromosome segregation and paves the way for exciting future studies."

Dr. Biggins has been studying the kinetochore, a molecular machine that mediates chromosome segregation during cell division, for the last 20 years. Before her work, kinetochores had been challenging to isolate and investigate due to their complex, dynamic nature. Dr. Biggins tackled this problem in the budding yeast Saccharomyces cerevisiae, in which the chromosome segregation machinery is a simplified version of that found in humans. In what her peers describe as a 'tour de force,' she accomplished the first isolation of the kinetochore in any organism by developing an elegant one-step method. This breakthrough made it possible for numerous labs to carry out in-depth studies of this complex machine, including her own lab's publication of the first molecular structure of a kinetochore in collaboration with Tamir Gonen's lab. Dr. Biggins also reconstituted various aspects of kinetochore function in several collaborative studies with Chip Asbury's lab that helped to dissect mechanisms behind the diverse roles of kinetochores. Taken together, her innovative, interdisciplinary research has helped to shape the current understanding of chromosome segregation and has laid the foundation for a detailed, mechanistic dissection of the varied processes that underlie it.

Dr. Biggins has been a GSA member for fifteen years, is an Associate Editor of the Society's flagship journal GENETICS, and has served on the organizing committee of GSA's biannual Yeast Genetics Meeting since 2010. She also belongs to the American Society for Cell Biology, where she recently served as an elected Council member. Early in her career, Dr. Biggins was awarded postdoctoral fellowships from the Jane Coffin Childs Memorial Fund and the American Cancer Society, followed by a Beckman Young Investigator Award. In 2013, she received the National Academy of Sciences Award in Molecular Biology for her work on kinetochores and the McDougall Mentoring Award from the Fred Hutchinson Cancer Research Center.

The Edward Novitski Prize recognizes an extraordinary level of creativity and intellectual ingenuity in the solution of significant problems in genetics research. The award recognizes scientific achievement that stands out from the body of innovative work, that is deeply impressive to creative masters in the field, and that solves a difficult problem in genetics. It recognizes the beautiful and intellectually ingenious experimental design and execution involved in genetics scientific discovery.

The Prize was established in 2007 by the Novitski family and GSA to honor the memory of Edward Novitski (1918-2006), a Drosophila geneticist and lifelong GSA member, who specialized in chromosome mechanics and elucidating meioisis through the construction of modified chromosomes.

To learn more about the GSA awards, and to view a list of previous recipients, please see http://www.genetics-gsa.org/awards.

###

About the Genetics Society of America (GSA)

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Genetics Society of America names Sue Biggins as recipient of Novitski Prize

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DURING the 2012 Limousin World Congress held in Denmark, one particular bull stopped Mark and Debbie Reynolds in their tracks.

The impressive apricot sire Engkjaer Get It not only topped the show the Reynolds saw but also won champion Limousin bull at Denmark's national show last July, when the three-year-old sire tipped the scales at 1344 kilograms.

Mr Reynolds instantly wanted to get some Get It genetics in his own Billy Creek Limousin stud at Hazelwood.

"We regularly use top sires to AI (artificially inseminate) our females, but it was the first time I had seen a bull and chased it," he said.

He succeeded in importing 20 straws from Get It, of which he shared 10 with Gavan Budge, of Yallourn North.

By November 25, there were three Get It calves on the ground marking the first drop of the Danish champion bull's calves in Australia.

The two bull calves and one heifer calf impressed Mr Reynolds, in spite of being only days old.

There was one more calf to be born.

The Reynolds focus on breeding docile cattle that calve easily, and aim to produce apricot, polled animals that retain the characteristic Limousin muscling.

Although Mr Reynolds is confident Get It's genetics will bring much to Billy Creek's breeding program, he is a horned animal, which demonstrates a willingness to consider horned genetics if an animal can improve other traits.

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Danish genetics at home in Hazelwood

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Methylmalonic Acidemia (MMA) Gene Therapy - Charles Venditti and Randy Chandler
Dr. Charles Venditti and Dr. Randy Chandler discuss recent developments in gene therapy for methylmalonic acidemia (MMA) - a group of inherited disorders in which the body is unable to process...

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Personalized Medicine-Arnav Kalra
The 1st Semester MBBS Student gave his perspective on Shared Learning and EBM at the 54th Annual Conference of National Academy of Medical Sciences (India) w...

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Personalized Medicine- Dr J N Pande- Discussion
Discussion on the presentation of Dr J N Pande at the 54th Annual Conference of National Academy of Medical Sciences (India) was held at AIIMS, Rishikesh fro...

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Personalized Medicine- Dr Raj Kumar, Director, AIIMS Rishikesh part 2
Dr Raj Kumar presented the experience of AIIMS Rishikesh and highlighted ups and downs in growth of Institute at the 54th Annual Conference of National Acade...

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Personalized Medicine- Dr Raj Kumar, AIIMS Rishikesh Part1
The 54th Annual Conference of National Academy of Medical Sciences (India) was held at AIIMS, Rishikesh from 17-19 October 2014.

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Ejaculation After a Spinal Cord Injury
In this video I discuss different methods of achieving ejaculation post spinal cord injury using vibratory stimulation and electro stimulation.

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Ejaculation After a Spinal Cord Injury - Video

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Living with spinal cord injury: Annette Ross - Wings for Life World Run
Annette Ross suffered a spinal cord injury during the birth of her daughter. The doctor had a drug issue and her life changed drastically. "It is so surreal ...

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Cameron #39;s Spinal Cord Injury That Changed His Life Forever
"My accident didn #39;t change who I am, just the way I walk." - Cameron Arens This video is to inspire others with spinal cord injuries.

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Wheelchair Curling
Wheelchair Curling started over 10 years ago in Alberta and continues to prosper, ranging from local teams just having a fun time to more competitive provinc...

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Wheelchair Curling - Video

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