Archive for November, 2014

Published November 07, 2014

A team of stem cell scientists has identified the biological mechanisms of Parkinsons disease and recreated a model of the disease in a dish.

Researchers at The New York Stem Cell Foundation (NYSCF) Research Institute studied a pair of identical twins one with Parkinsons and one without as well as another unrelated Parkinsons patient and four healthy control subjects to observe key characteristics of the disease. After comparing the individuals biological factors, they noticed differences in the patients neurons ability to produce dopamine. Dopamine production is deficient in Parkinsons disease.

"The unique scenario of identical twins, one with this disease and one without, allowed our scientists an unprecedented look into the mechanisms of Parkinson's disease," Susan L. Solomon, NYSCF chief executive officer, said in a news release. "Advanced stem cell research techniques allow us to push the boundaries of science and see what actually goes wrong at the cellular level, step by step during the disease process."

Parkinsons disease affects an estimated 500,000 people in the United States, according to the National Institutes of Health (NIH). The average age of onset is 60, and the risk of developing it increases with age. Symptoms of Parkinsons include tremor, shaking in the hands, arms, legs, jaw or head; impaired balance or postural instability; slowness of movement; and stiffness of the limbs and trunk.

There is currently no cure for Parkinsons.

While the disease is moderately hereditary, scientists have yet to fully understand the mechanisms of inheritance. The researchers note the DNA mutations that produce the enzyme glucocerebrosidase (GBA) have been linked to a five-fold increased risk of developing Parkinsons, but only 30 percent of people with this mutation have been shown to get the disease by age 80. This suggests that genetic and non-genetic factors cause Parkinsons. In studying the identical twins, scientists were able to analyze these mechanisms.

The scientists made induced pluripotent stem (iPS) cells from skin samples from both twins to generate a cellular model of Parkinsons in a dish, recreating the outstanding features of the disease specifically the dopamine and a-synuclein deficiency.

Scientists saw that the neurons from the twin affected by Parkinsons produced less dopamine and had higher levels of an enzyme called monomine oxidase B (MAO-B), as well as a poorer ability to connect with each other, compared to the twin that did not have the disease.

The findings suggest a possible therapy for Parkinsons: treating neurons with molecules that reduce the activity of MAO-B and GBA, while normalizing -synuclein and dopamine levels.

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Researchers create stem cell model of Parkinsons disease in a dish

David C P. Chen, MD., MHP - Stem Cell Therapy Q A3

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A new study lends additional evidence to the likelihood that genes associated with high levels of the so-called good cholesterol appear to contribute to exceptionally long life expectancy and resistance to age-related disease.

Sofiya Milman , an assistant professor of medicine in geriatrics and endocrinology at Albert Einstein College of Medicine in New York, said her teams findings could open the way to finding drugs that target the gene and mimic its functions, thereby extending life.

These genotypes may explain the mechanisms responsible for the beneficial HDL, Milman said, saying further study of the genes could help unlock the secrets of what she called successful agers. One of the gene variants related to HDL cholesterol appeared to not only contribute to longer life, but to protect older people from age-related cognitive impairment, she said.

But Milman also cautioned that studies with larger sample sizes and more diverse populations should be conducted to validate the results.

Milmans research was one of several presentations on the science of aging offered Thursday at the annual meeting of the Gerontological Society of Americas annual scientific conference at the Walter E. Washington Convention Center. The conference, which opened Wednesday, draws about 4,000 researchers. More than 500 presentations of original research are scheduled before the conference ends Sunday.

The Einstein study focused on 300 women and 94 men who were at least 95 years old and living independently when the study began in 1998. All of the people were from the northeastern United States and all were Jews of European descent, a factor that was useful because of the relative homogeneity of their genetics.

Researchers then monitored the participants until the participants deaths, focused on their levels of HDL, which stands for high-density lipoprotein. HDL , helps the body regulate and maintain the level of cholesterol, an important component of health. Cholesterol, which is found in certain foods and created by the body itself, helps create hormones, synthesizes vitamin D, and builds and maintains cell membranes.

To transport and store cholesterol, the liver transforms it into lipoproteins. Low-density lipoproteins (LDL) carry cholesterol to the bodys cells; HDL moves through the bloodstream acting as a scavenger that returns cholesterol to the liver for excretion or recycling.

The Einstein team theorized that long life might be linked to high HDL levels and the presence of a gene variant of an enzyme known as CETP, or cholesterol ester transfer protein that transfers cholesterol between HDL particles and LDL particles circulating in the bloodstream.

The team also looked at a gene variant known as apolipoprotein 1 (APOA1), which codes for a protein that is a major component in HDL, to see whether that too might be a marker for exceptional longevity.

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Gene for HDL cholesterol linked to longer life, study finds

PUBLIC RELEASE DATE:

7-Nov-2014

Contact: Raeka Aiyar press@genetics-gsa.org 202-412-1120 Genetics Society of America @GeneticsGSA

Bethesda, MD -- After many generations, rats bred for their bad attitude behave differently from those selected for a calm demeanor around humans. Research published November 7 in the journal GENETICS identifies gene regions that contribute to differences between nasty and nice rats in their behavior and the activity of genes in the brain. These results may provide important clues as to which genes make tame animals like dogs behave so differently from their wild ancestors.

"Tameness is one trait that all domestic animals share. Whether it's pigs or cats or horses, domestication changed species that used to fear humans into animals that now tolerate and even trust us. This research is an important step in uncovering the genetic basis of such remarkable transformations," said co-author Henrike Heyne, of the Max Planck Institute for Evolutionary Anthropology and the University of Leipzig in Germany.

The rats in the study are descendents of an experiment initiated more than forty years ago by Dmitry K. Belyaev, who is famous for his work on experimental domestication of foxes. Belyaev and his colleagues collected around 200 wild rats and divided them into two groups. In one group, the rats selected for breeding were the most aggressive of the bunch--those most likely to attack or show fear towards an approaching human hand. In the second group, only the tamest rats were bred. After repeating this process for more than sixty generations, rodents in the two groups reacted to humans very differently.

"Rats from the tame group allow you to pick them up and will sometimes even approach your hand on their own. In contrast, the aggressive rats immediately attack you or try to escape," said co-author Frank Albert of the Max Planck Institute for Evolutionary Anthropology and the University of California, Los Angeles.

To find gene variants responsible for these heritable behavior differences, the researchers crossed rats from each of the two groups to create a population of hybrids. These hybrid animals showed a wide range of behaviors and inherited a random mix of genetic variants from the original tame and aggressive parent rats. By combining information on the genes and the behavior of each hybrid, the team identified eight regions of the genome that contributed to the variation in tameness.

Within these broad regions, Heyne and colleagues looked for specific genes of interest by analyzing their activity in the brain. Eleven of the genes within these regions carried variants that made them more active in the brains of aggressive rats compared to tame rats, or vice versa. For five of these genes, the team found additional evidence that the variants regulating activity of the gene were the same variants that influenced behavior.

These five genes may play key roles in shaping behavior in the two populations. Several of the genes are involved in nervous system development and one, Slc17a7, has previously been implicated in fear and stress behavior in mice. Further experiments will be required to determine which genes contribute significantly to tameness or aggression.

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Genes contribute to behavior differences between fierce and friendly rats

A team led by New York Stem Cell Foundation (NYSCF) Research Institute scientists conducted a study comparing induced pluripotent stem (iPS) cells and embryonic stem cells created using somatic cell nuclear transfer (SCNT). The scientists found that the cells derived from these two methods resulted in cells with highly similar gene expression and DNA methylation patterns. Both methods also resulted in stem cells with similar amounts of DNA mutations, showing that the process of turning an adult cell into a stem cell introduces mutations independent of the specific method used. This suggests that both methods of producing stem cells need to be further investigated before determining their suitability for the development of new therapies for chronic diseases.

The NYSCF Research Institute is one of the only laboratories in the world that currently pursues all forms of stem cell research including SCNT and iPS cell techniques for creating stem cells. The lack of laboratories attempting SCNT research was one of the reasons that the NYSCF Research Institute was established in 2006.

"We do not yet know which technique will allow scientists to create the best cells for new cellular therapies," said Susan L. Solomon, NYSCF CEO and co-founder. "It is critical to pursue both SCNT and iPS cell techniques in order to accelerate research and bring new treatments to patients."

While both techniques result in pluripotent stem cells, or cells that can become any type of cell in the body, the two processes are different. SCNT consists of replacing the nucleus of a human egg cell or oocyte with the nucleus of an adult cell, resulting in human embryonic stem cells with the genetic material of the adult cell. In contrast, scientists create iPS cells by expressing a few key genes in adult cells, like a skin or blood cell, causing the cells to revert to an embryonic-like state. These differences in methods could, in principle, result in cells with different properties. Advances made earlier this year by NYSCF Research Institute scientists that showed that human embryonic stem cells could be derived using SCNT revived that debate.

"Our work shows that we now have two methods for the generation of a patient's personal stem cells, both with great potential for the development of treatments of chronic diseases. Our work will also be welcome news for the many scientists performing basic research on iPS cells. It shows that they are likely working with cells that are very similar to human embryonic stem cells, at least with regard to gene expression and DNA methylation. How the finding of mutations might affect clinical use of stem cells generated from adult cells is the subject of an ongoing debate," said Dr. Dieter Egli, NYSCF Senior Research Fellow, NYSCF -- Robertson Investigator, Assistant Professor in Pediatrics & Molecular Genetics at Columbia University, and senior author on the paper.

The study, published today in Cell Stem Cell, compared cell lines derived from the same sources using the two differing techniques, specifically contrasting the frequency of genetic coding mutations seen and measuring how closely the stem cells matched the embryonic state through the analysis of DNA methylation and of gene expression patterns. The scientists showed that both methods resulted in cell types that were similar with regard to gene expression and DNA methylation patterns. This suggested that both methods were effective in turning a differentiated cell into a stem cell.

The scientists also showed that cells derived using both SCNT and iPS techniques showed similar numbers of genetic coding mutations, implying that neither technique is superior in that regard. A similar number of changes in DNA methylation at imprinted genes (genes that are methylated differentially at the maternal versus the paternal allele) were also found. It is important to note that both types of techniques led to cells that had more of these aberrations than embryonic stem cells derived from an unfertilized human oocyte, or than embryonic stem cells derived from leftover IVF embryos. These findings suggest that a small number of defects are inherent to the generation of stem cells from adult differentiated cells and occur regardless of the method used.

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The above story is based on materials provided by New York Stem Cell Foundation. Note: Materials may be edited for content and length.

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SCNT derived cells, IPS cells are similar, study finds

iOS android and windows phone Qvprep app Learn genetics and genetic engineering
This is our app title # 22 out of a total of 42 apps released till date. QVprep Genetic Engineering Covers * Introduction History of Genetic Engineering * ...

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Free iOS, android, windows phone QVprep Lite Learn genetic engineering
This is our app title # 21 out of a total of 42 apps released till date. QVprep Lite Genetic Engineering is FREE and has limited content. The app gives you t...

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New laser scans of the dodo, perhaps the most famous animal to have gone extinct in human history, have unexpectedly exposed portions of its anatomy unknown to science, which are revealing secrets about how the bird once lived.

The dodo was a flightless bird about 3 feet (1 meter) tall that was native to the island of Mauritius in the Indian Ocean. It went extinct by 1693, less than a century after the Dutch discovered the island in 1598, killed off by creatures such as rats and pigs, which sailors introduced to Mauritius either accidentally or intentionally.

The giant bird was actually a type of pigeon. "The skull of the dodo is so large and its beak so robust that it is easy to understand that the earliest naturalists thought it was related to vultures and other birds of prey, rather than the pigeon family," said study co-author Hanneke Meijer at the Catalan Institute of Paleontology in Spain.

Surprisingly, despite the dodo's fame, and the fact the bird was alive during recorded human history, little is known about the anatomy and biology of this animal. "The dodo's extinction happened at a time when people didn't understand the concept of extinction science as we know it was still in its infancy,"lead study author Leon Claessens, a vertebrate paleontologist at the College of the Holy Cross in Worcester, Massachusetts, told Live Science. "This meant that nobody tried to make a collection of the bird or study it in detail." [Wipe Out! History's 7 Most Mysterious Extinctions]

To shed new light on the dodo, Claessens and his colleagues went to the Natural History Museum in Port Louis, Mauritius, to investigate the only known complete skeleton from a single dodo. All other dodo skeletons are composites of several birds.

Amateur naturalist and barber Etienne Thirioux found the specimen the researchers analyzed near Le Pouce Mountain on Mauritius in about 1903. It was unstudied by scientists until now.

The scientists used a laser scanner to create a 3D digital model of the specimen. In addition, they scanned a second dodo skeleton Thirioux also created, a composite of two or more skeletons that was housed at the Durban Museum of Natural Science in South Africa.

"We discovered that the anatomy of the dodo we were looking at was not previously described in detail," Claessens said. "There were bones of the dodo that were just unknown to science until now."

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Dodo Bird 3D Scan Reveals Previously Unknown Bones

For entertainment giants such as Netflix and HBO, theres an oft-cited concept known as the last mile.

It refers to the performance bottleneck that can arise in the short, final stretch of cable that links their vast, sophisticated server farms to the humble jack on a subscribers wall.

More than a decade after the immense promise unleashed by the completion of Human Genome Project, precision medicine has struggled with its own last mile. Despite major leaps in the field as a whole, the technical work needed to integrate a patients genomic information into the day-to-day practice of medicine has lagged far behind.

This month, UCSF is unveiling its bridge across that persistent gap.

Kristen McCaleb, PhD, program manager for the UCSF Genomic Medicine Initiative, and Jonathan Hirsch, founder of Syapse. Photo by Elisabeth Fall

Robert Nussbaum, MD, leads the UCSF Genomic Medicine Initiative. Photo by Cindy Chew

Through its Genomic Medicine Initiative (GMI), UCSF has integrated data from a comprehensive cancer genetic testing program into the electronic medical records of patients at the UCSF Medical Center. Not only does it allow for continuity of care with all testing and treatment results tied to the same electronic record, but it also allows physicians and researchers to identify larger patterns in the data that can lead to the development of better treatments which is known as precision medicine.

Many major medical institutions, including UCSF, have long had the science and the technology to generate genomic test results, said Kristen McCaleb, PhD, program manager for the GMI who partnered with the Helen Diller Comprehensive Cancer Center on the project. The problem weve had is a lack of IT infrastructure to return those results to the clinicians who order the tests in a clearly actionable, doctor-friendly format.

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Bridging the Gap in Precision Medicine

SOS 11/4/14 P.1 Dr.A Singh on Modi #39;s Claim:Ancient India Had Genetics, Cloning, Plastic Surgery
Dr. Amarjit Singh on Modi #39;s Claim : Ancient India Had Genetics, Cloning, Plastic Surgery, Airplanes.

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Dr. Matt Spangler UNL Extension Beef Genetics Specialist
Dr. Matt Spangler- University of Nebraska-Lincoln, Beef Genetics Specialist was one of the featured presenters at the State of Beef Conference held November 4-5, 2014 in North Platte, NE. ...

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When Glenn ONeill and his wife, Cara, learned about a gene therapy treatment that could save their daughters life, they started a foundation and set off to raise the $2.3 million it would take to fund the manufacturing and clinical trial costs for the drug.

Today, thanks to about 26,000 donors from 70 different countries, theyre just $530,000 away from their goal.

Their daughter, 4-year-old Eliza ONeill, suffers from Sanfilippo Syndrome-Type A, a disease that causes children to lack an enzyme necessary for normal cellular function. The disease eventually causes a lethal buildup of a toxic material called heparin sulfate, leading to learning disabilities and behavioral problems. The disease is seen in 1 in 70,000 births, and most children born with with Sanfillipo Syndrome-Type A die by the time they are teenagers.

While there is currently no cure or treatment for the disease, researchers at Nationwide Childrens Hospital in Columbus, Ohio have found a potential gene therapy that, in a study, successfully rid mice of heparin sulfate buildup.

When Cara spoke to lead researcher Dr. Haiyan Fu, principal investigator at the Center for Gene Therapy at Nationwide, and learned about the potential treatment, the family began raising money to fund it.

That was the first glimmer of hope that I got in all of this, Cara ONeill told FoxNews.com.

A couple of months after the diagnosis in July 2013, they began a slew of traditional fundraising efforts, from bake sales and 5Ks, to parties and a golf tournament. At the end of 2013, they started the Cure Sanfilippo Foundation and have launched SavingEliza.com through the fundraising site GoFundMe.com. In April 2014, a videographer made a free video for the family that went viral, and the family started a social media campaign called Sing Two Lines, similar to the ALS Ice Bucket Challenge, where people would challenge others to sing two lines of their favorite song. Actress Andie MacDowell and members of the band Gloriana participated.

The ONeills have raised $1.7 million since December and have been able to fund the manufacturing costs of the drug as well as some of the preclinical work. Their goal is to meet the $2.3 million mark by Elizas fifth birthday, Nov. 16.

Weve made it a point not to ask previous donors to donate again, Glenn ONeill told FoxNews.com, but at some point we knew it was going to come to crunch time. At this point, with [Elizas] birthday coming up, we really need to spend more time with Eliza, and focusing on her and keeping her learning at the top of the game.

Researchers at Nationwide have proposed what they feel is a sufficient toxicology plan to move forward with the clinical trial, and they are currently waiting for the Food and Drug Administrations (FDA) comments.

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Saving Eliza: Family raising money for Sanfilippo Syndrome drug $530K away from goal

Developing Tools for Discovery Implementation in Personalized Medicine - Dan Roden, M.D.
Dr. Roden received his medical degree and training in internal medicine from McGill University in Montreal and trained in clinical pharmacology and cardiology at Vanderbilt University, where...

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Jablonski Leads Hockey #39;s Biggest Stick Tap at Wild Game
Former Minnesota prep hockey player Jack Jablonski took to the ice at Saturday #39;s Wild-Stars game to help raise awareness of spinal cord injury research.

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Tony Stewart Darrell Gwynn Safe Driving PSA 2014
This Public Service Announcement is provided by the Darrell Gwynn Foundation as part of Spinal Cord Injury Awareness Week in Florida, November 11-16, 2014. #SCIAW.

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Teen with spinal cord injury golfs in special chair
A spinal cord injury won #39;t hold Walid back, as he is given the trip of a lifetime to golf in a specialized chair. (Video: Jen Zielinski)

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AREA 4. BIOMATERIALS, TISSUE ENGINEERING AND REGENERATIVE MEDICINE Medicine
Leader: Prof. Po Gonzlez-Fernndez Applied Physicist. Lines of research: Scaffolds and biocoatings. Bioinspired ceramic scaffolds. New biocompatible coatings. Nanomedicine....

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AREA 4. BIOMATERIALS, TISSUE ENGINEERING AND REGENERATIVE MEDICINE Medicine - Video

Regenerative Medicine - Professor Siddarthan Chandran
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Epigenetics Stem Cells in Development Regenerative Medicine - Michael Boland, Scripps Institute
Speaker: Michael Boland, Ph.D., Research Associate, The Scripps Research Institute.

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Epigenetics Stem Cells in Development Regenerative Medicine - Allyson Moutri, UC San Diego
Speaker: Alysson Muotri, Ph.D., Assistant Professor, Department of Pediatrics/Cellular Molecular Medicine, UC San Diego.

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QUT Grand Challenge Lecture Series - Biofabrication: The Future of Regenerative Medicine?
Discover how you can be a part of this research: http://ow.ly/DHC7H Presented by Associate Professor Mia Woodruff (QUT). 3D printing is currently taking the world by storm with the ability...

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David C P. Chen, MD., MHP - Stem Cell Therapy Q A1
David C P. Chen, MD., MHP - Stem Cell Therapy Q A1.

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David C P. Chen, MD., MHP - Stem Cell Therapy Q A2

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Enliven: Journal of Anesthesiology and Critical Care Medicine ISSN : 2374 - 4448 I e001
Left Ventricular Assist Device and Resident Cardiac Stem Cells in Heart Failure: Human Heart #39;s Potential Matter.

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An eight-year-old girl whose hunt for a bone marrow donor inspired hundreds to take selfies with their pants on their heads has died.

Hollie Clarks family broke the news on the Facebook page that they used to raise awareness of her battle with the bone marrow disorder MDS, Wales Online reports.

Her dad Stephen of Penylan, Cardiff, wrote: Sad news today Im afraid.

"After a seven month battle with MDS Hollie past away peacefully in her parents arms. It is utterly heartbreaking and makes no sense.

We have a million memories and take huge comfort in the number of Anthony Nolan registrations that the campaign made.

We are sure that someday soon one of you will be asked to donate stem cells and give someone like Hollie a chance.

Thank you all for your support. We would appreciate some time and space to try and pick ourselves up. Love from Hollies Dad. The proudest Dad in the world.

The family also used the @HelpHollie Twitter account to tell all those who had supported their campaign the news.

They wrote: Very sadly today our brave little angel passed away. Hollie was the happiest child ever and we are blessed that she was part of our family.

RIP Hollie. We tried our best. You were the best daughter any mum and dad could wish for. Thank you.

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Inspirational girl loses fight with rare condition - after encouraging hundreds to wear pants on head