Published on Mar 20, 2014 11:53 AM

By Grace Chua

Scientists in Singapore say they have found a way to create human stem cells from a drop of blood pricked from the finger.

Previously, methods for generating these cells - called human-induced pluripotent stem cells - involved collecting adult cells from bone marrow, skin or large quantities of blood. These were then genetically coaxed into reverting into stem cells.

However, such invasive collection methods deterred some potential donors.

Researchers from the Agency for Science, Technology and Research (A*Star) revealed their new technique on Thursday.

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Singapore scientists find 'new way' of creating stem cells from drop of finger blood

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PUBLIC RELEASE DATE:

21-Mar-2014

Contact: Charles Casey charles.casey@ucdmc.ucdavis.edu 916-734-9048 University of California - Davis Health System

(SACRAMENTO, Calif.) For the first time, scientists have succeeded in coaxing laboratory cultures of human stem cells to develop into the specialized, unique cells needed to repair a patient's defective or diseased bladder.

The breakthrough, developed at the UC Davis Institute for Regenerative Cures and published today in the scientific journal Stem Cells Translational Medicine, is significant because it provides a pathway to regenerate replacement bladder tissue for patients whose bladders are too small or do not function properly, such as children with spina bifida and adults with spinal cord injuries or bladder cancer.

"Our goal is to use human stem cells to regenerate tissue in the lab that can be transplanted into patients to augment or replace their malfunctioning bladders," said Eric Kurzrock, professor and chief of the division of pediatric urologic surgery at UC Davis Children's Hospital and lead scientist of the study, which is titled "Induction of Human Embryonic and Induced Pluripotent Stem Cells into Urothelium."

To develop the bladder cells, Kurzrock and his UC Davis colleagues investigated two categories of human stem cells. In their key experiments, they used induced pluripotent stem cells (iPS cells), which were derived from lab cultures of human skin cells and umbilical blood cells that had been genetically reprogrammed to convert to an embryonic stem cell-like state.

If additional research demonstrates that grafts of bladder tissue grown from human stem cells will be safe and effective for patient care, Kurzrock said that the source of the grafts would be iPS cells derived from a patient's own skin or umbilical cord blood cells. This type of tissue would be optimal, he said, because it lowers the risk of immunological rejection that typifies most transplants.

In their investigation, Kurzrock and his colleagues developed a protocol to prod the pluripotent cells into becoming bladder cells. Their procedure was efficient and, most importantly, the cells proliferated over a long period of time a critical element in any tissue engineering application.

"What's exciting about this discovery is that it also opens up an array of opportunities using pluripotent cells," said Jan Nolta, professor and director of the UC Davis Stem Cell program and a co-author on the new study. "When we can reliably direct and differentiate pluripotent stem cells, we have more options to develop new and effective regenerative medicine therapies. The protocols we used to create bladder tissue also provide insight into other types of tissue regeneration."

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Stem cell findings may offer answers for some bladder defects and disease

Recommendation and review posted by Bethany Smith

For the first time, scientists have succeeded in coaxing laboratory cultures of human stem cells to develop into the specialized, unique cells needed to repair a patient's defective or diseased bladder.

The breakthrough, developed at the UC Davis Institute for Regenerative Cures and published today in the scientific journal Stem Cells Translational Medicine, is significant because it provides a pathway to regenerate replacement bladder tissue for patients whose bladders are too small or do not function properly, such as children with spina bifida and adults with spinal cord injuries or bladder cancer.

"Our goal is to use human stem cells to regenerate tissue in the lab that can be transplanted into patients to augment or replace their malfunctioning bladders," said Eric Kurzrock, professor and chief of the division of pediatric urologic surgery at UC Davis Children's Hospital and lead scientist of the study, which is titled "Induction of Human Embryonic and Induced Pluripotent Stem Cells into Urothelium."

To develop the bladder cells, Kurzrock and his UC Davis colleagues investigated two categories of human stem cells. In their key experiments, they used induced pluripotent stem cells (iPS cells), which were derived from lab cultures of human skin cells and umbilical blood cells that had been genetically reprogrammed to convert to an embryonic stem cell-like state.

If additional research demonstrates that grafts of bladder tissue grown from human stem cells will be safe and effective for patient care, Kurzrock said that the source of the grafts would be iPS cells derived from a patient's own skin or umbilical cord blood cells. This type of tissue would be optimal, he said, because it lowers the risk of immunological rejection that typifies most transplants.

In their investigation, Kurzrock and his colleagues developed a protocol to prod the pluripotent cells into becoming bladder cells. Their procedure was efficient and, most importantly, the cells proliferated over a long period of time -- a critical element in any tissue engineering application.

"What's exciting about this discovery is that it also opens up an array of opportunities using pluripotent cells," said Jan Nolta, professor and director of the UC Davis Stem Cell program and a co-author on the new study. "When we can reliably direct and differentiate pluripotent stem cells, we have more options to develop new and effective regenerative medicine therapies. The protocols we used to create bladder tissue also provide insight into other types of tissue regeneration."

UC Davis researchers first used human embryonic stem cells obtained from the National Institutes of Health's repository of human stem cells. Embryonic stem cells can become any cell type in the body (i.e., they are pluripotent), and the team successfully coaxed these embryonic stem cells into bladder cells. They then used the same protocol to coax iPS cells made from skin and umbilical cord blood into bladder cells, called urothelium, that line the inside of the bladder. The cells expressed a very unique protein and marker of bladder cells called uroplakin, which makes the bladder impermeable to toxins in the urine.

The UC Davis researchers adjusted the culture system in which the stem cells were developing to encourage the cells to proliferate, differentiate and express the bladder protein without depending upon signals from other human cells, said Kurzrock. In future research, Kurzrock and his colleagues plan to modify the laboratory cultures so that they will not need animal and human products, which will allow use of the cells in patients.

Kurzrock's primary focus as a physician is with children suffering from spina bifida and other pediatric congenital disorders. Currently, when he surgically reconstructs a child's defective bladder, he must use a segment of their own intestine. Because the function of intestine, which absorbs food, is almost the opposite of bladder, bladder reconstruction with intestinal tissue may lead to serious complications, including urinary stone formation, electrolyte abnormalities and cancer. Developing a stem cell alternative not only will be less invasive, but should prove to be more effective, too, he said.

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Stem cell findings may offer answers for some bladder defects, disease

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SINGAPORE: Scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have developed a method to generate human induced pluripotent stem cells (hiPSCs) from a single drop of finger-pricked blood.

The new technique could potentially boost the number and diversity of donors, and facilitate the setting up of large-scale hiPSC banks, said the Agency for Science, Technology and Research (A*STAR) in a news release on Thursday.

Current sample collection for reprogramming into human induced pluripotent stem cells include invasive methods, such as collecting cells from the bone marrow or skin, which may put off potential donors.

Although the stem cells may also be generated from blood cells, a large amount of blood is usually required.

But scientists at IMCB showed for the first time that single-drop volumes of blood are sufficient for reprogramming into human induced pluripotent stem cells.

As those cells show properties remarkably similar to human embryonic stem cells, they are invaluable for basic research, drug discovery and cell therapy.

The finger-prick technique is the world's first to use only a drop of finger-pricked blood to yield hiPSCs with high efficiency.

The work is published online in the Stem Cell Translational Medicine journal.

Lead scientist for the finger-prick hiPSC technique Dr Jonathan Loh Yuin Han said, "Our finger-prick technique, in fact, utilised less than a drop of finger-pricked blood. The remaining blood could even be used for DNA sequencing and other blood tests."

Senior consultant at the National Heart Centre Singapore and co-author of the paper, Dr Stuart Alexander Cook, said, "We were able to differentiate the hiPSCs reprogrammed from Jonathan's finger-prick technique, into functional heart cells."

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A*STAR scientists create stem cells from drop of blood

Recommendation and review posted by Bethany Smith

Scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have developed a method to generate human induced pluripotent stem cells (hiPSCs) from a single drop of finger-pricked blood. The method also enables donors to collect their own blood samples, which they can then send to a laboratory for further processing. The easy access to blood samples using the new technique could potentially boost the recruitment of greater numbers and diversities of donors, and could lead to the establishment of large-scale hiPSC banks.

By genetic reprogramming, matured human cells, usually blood cells, can be transformed into hiPSCs. As hiPSCs exhibit properties remarkably similar to human embryonic stem cells, they are invaluable resources for basic research, drug discovery and cell therapy. In countries like Japan, USA and UK, a number of hiPSC bank initiatives have sprung up to make hiPSCs available for stem cell research and medical studies.

Current sample collection for reprogramming into hiPSCs include invasive measures such as collecting cells from the bone marrow or skin, which may put off many potential donors. Although hiPSCs may also be generated from blood cells, large quantities of blood are usually required. In the paper published online on the Stem Cell Translational Medicine journal, scientists at IMCB showed for the first time that single-drop volumes of blood are sufficient for reprogramming into hiPSCs. The finger-prick technique is the world's first to use only a drop of finger-pricked blood to yield hiPSCs with high efficiency. A patent has been filed for the innovation.

The accessibility of the new technique is further enhanced with a DIY sample collection approach. Donors may collect their own finger-pricked blood, which they can then store and send it to a laboratory for reprogramming. The blood sample remains stable for 48 hours and can be expanded for 12 days in culture, which therefore extends the finger-prick technique to a wide range of geographical regions for recruitment of donors with varied ethnicities, genotypes and diseases.

By integrating it with the hiPSC bank initiatives, the finger-prick technique paves the way for establishing diverse and fully characterised hiPSC banking for stem cell research. The potential access to a wide range of hiPSCs could also replace the use of embryonic stem cells, which are less accessible. It could also facilitate the set-up of a small hiPSC bank in Singapore to study targeted local diseases.

Dr Loh Yuin Han Jonathan, Principal Investigator at IMCB and lead scientist for the finger-prick hiPSC technique, said, "It all began when we wondered if we could reduce the volume of blood used for reprogramming. We then tested if donors could collect their own blood sample in a normal room environment and store it. Our finger-prick technique, in fact, utilised less than a drop of finger-pricked blood. The remaining blood could even be used for DNA sequencing and other blood tests."

Dr Stuart Alexander Cook, Senior Consultant at the National Heart Centre Singapore and co-author of the paper, said "We were able to differentiate the hiPSCs reprogrammed from Jonathan's finger-prick technique, into functional heart cells. This is a well-designed, applicable technique that can unlock unrealized potential of biobanks around the world for hiPSC studies at a scale that was previously not possible."

Prof Hong Wanjin, Executive Director at IMCB, said "Research on hiPSCs is now highly sought-after, given its potential to be used as a model for studying human diseases and for regenerative medicine. Translational research and technology innovations are constantly encouraged at IMCB and this new technique is very timely. We hope to eventually help the scientific community gain greater accessibility to hiPSCs for stem cell research through this innovation."

Story Source:

The above story is based on materials provided by A*STAR. Note: Materials may be edited for content and length.

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Stem cells created from a drop of blood: DIY finger-prick technique opens door for extensive stem cell banking

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Washington, March 21 : Researchers have developed a method to generate human induced pluripotent stem cells (hiPSCs) from a single drop of finger-pricked blood.

The method also enables donors to collect their own blood samples, which they can then send to a laboratory for further processing.

The easy access to blood samples using the new technique could potentially boost the recruitment of greater numbers and diversities of donors, and could lead to the establishment of large-scale hiPSC banks.

By genetic reprogramming, matured human cells, usually blood cells, can be transformed into hiPSCs.

Current sample collection for reprogramming into hiPSCs include invasive measures such as collecting cells from the bone marrow or skin, which may put off many potential donors.

Although hiPSCs may also be generated from blood cells, large quantities of blood are usually required. Scientists at Institute of Molecular and Cell Biology (IMCB) showed for the first time that single-drop volumes of blood are sufficient for reprogramming into hiPSCs.

The finger-prick technique is the world's first to use only a drop of finger-pricked blood to yield hiPSCs with high efficiency.

The accessibility of the new technique is further enhanced with a DIY sample collection approach. Donors may collect their own finger-pricked blood, which they can then store and send it to a laboratory for reprogramming. The blood sample remains stable for 48 hours and can be expanded for 12 days in culture, which therefore extends the finger-prick technique to a wide range of geographical regions for recruitment of donors with varied ethnicities, genotypes and diseases.

The paper has been published online in the Stem Cell Translational Medicine journal.

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Now, stem cells created from a drop of blood

Recommendation and review posted by Bethany Smith

The DIY finger-prick technique opens door for extensive stem cell banking

1. Scientists at A*STARs Institute of Molecular and Cell Biology (IMCB) have developed a method to generate human induced pluripotent stem cells (hiPSCs) from a single drop of finger-pricked blood. The method also enables donors to collect their own blood samples, which they can then send to a laboratory for further processing. The easy access to blood samples using the new technique could potentially boost the recruitment of greater numbers and diversities of donors, and could lead to the establishment of large-scale hiPSC banks.

3. Current sample collection for reprogramming into hiPSCs include invasive measures such as collecting cells from the bone marrow or skin, which may put off many potential donors. Although hiPSCs may also be generated from blood cells, large quantities of blood are usually required. In the paper published online on the Stem Cell Translational Medicine journal, scientists at IMCB showed for the first time that single-drop volumes of blood are sufficient for reprogramming into hiPSCs. The finger-prick technique is the worlds first to use only a drop of finger-pricked blood to yield hiPSCs with high efficiency. A patent has been filed for the innovation.

4. The accessibility of the new technique is further enhanced with a DIY sample collection approach. Donors may collect their own finger-pricked blood, which they can then store and send it to a laboratory for reprogramming. The blood sample remains stable for 48 hours and can be expanded for 12 days in culture, which therefore extends the finger-prick technique to a wide range of geographical regions for recruitment of donors with varied ethnicities, genotypes and diseases.

5. By integrating it with the hiPSC bank initiatives, the finger-prick technique paves the way for establishing diverse and fully characterised hiPSC banking for stem cell research. The potential access to a wide range of hiPSCs could also replace the use of embryonic stem cells, which are less accessible. It could also facilitate the set-up of a small hiPSC bank in Singapore to study targeted local diseases.

6. Dr Loh Yuin Han Jonathan, Principal Investigator at IMCB and lead scientist for the finger-prick hiPSC technique, said, It all began when we wondered if we could reduce the volume of blood used for reprogramming. We then tested ifdonors could collect their own blood sample in a normal room environment and store it. Our finger-prick technique, in fact, utilised less than a drop of finger-pricked blood. The remaining blood could even be used for DNA sequencing and other blood tests.

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:: 20, Mar 2014 :: A*STAR SCIENTISTS CREATE STEM CELLS FROM A DROP OF BLOOD

Recommendation and review posted by Bethany Smith

Sacramento, CA (PRWEB) March 21, 2014

For the first time, scientists have succeeded in coaxing laboratory cultures of human stem cells to develop into the specialized, unique cells needed to repair a patients defective or diseased bladder.

The breakthrough, developed at the UC Davis Institute for Regenerative Cures and published today in the scientific journal Stem Cells Translational Medicine, is significant because it provides a pathway to regenerate replacement bladder tissue for patients whose bladders are too small or do not function properly, such as children with spina bifida and adults with spinal cord injuries or bladder cancer.

Our goal is to use human stem cells to regenerate tissue in the lab that can be transplanted into patients to augment or replace their malfunctioning bladders, said Eric Kurzrock, professor and chief of the division of pediatric urologic surgery at UC Davis Children's Hospital and lead scientist of the study, which is titled Induction of Human Embryonic and Induced Pluripotent Stem Cells into Urothelium.

To develop the bladder cells, Kurzrock and his UC Davis colleagues investigated two categories of human stem cells. In their key experiments, they used induced pluripotent stem cells (iPS cells), which were derived from lab cultures of human skin cells and umbilical blood cells that had been genetically reprogrammed to convert to an embryonic stem cell-like state.

If additional research demonstrates that grafts of bladder tissue grown from human stem cells will be safe and effective for patient care, Kurzrock said that the source of the grafts would be iPS cells derived from a patients own skin or umbilical cord blood cells. This type of tissue would be optimal, he said, because it lowers the risk of immunological rejection that typifies most transplants.

In their investigation, Kurzrock and his colleagues developed a protocol to prod the pluripotent cells into becoming bladder cells. Their procedure was efficient and, most importantly, the cells proliferated over a long period of time a critical element in any tissue engineering application.

Whats exciting about this discovery is that it also opens up an array of opportunities using pluripotent cells, said Jan Nolta, professor and director of the UC Davis Stem Cell program and a co-author on the new study. When we can reliably direct and differentiate pluripotent stem cells, we have more options to develop new and effective regenerative medicine therapies. The protocols we used to create bladder tissue also provide insight into other types of tissue regeneration.

UC Davis researchers first used human embryonic stem cells obtained from the National Institutes of Healths repository of human stem cells. Embryonic stem cells can become any cell type in the body (i.e., they are pluripotent), and the team successfully coaxed these embryonic stem cells into bladder cells. They then used the same protocol to coax iPS cells made from skin and umbilical cord blood into bladder cells, called urothelium, that line the inside of the bladder. The cells expressed a very unique protein and marker of bladder cells called uroplakin, which makes the bladder impermeable to toxins in the urine.

The UC Davis researchers adjusted the culture system in which the stem cells were developing to encourage the cells to proliferate, differentiate and express the bladder protein without depending upon signals from other human cells, said Kurzrock. In future research, Kurzrock and his colleagues plan to modify the laboratory cultures so that they will not need animal and human products, which will allow use of the cells in patients.

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UC Davis Stem-Cell Researchers Findings May Offer Answers for Some Bladder Defects and Disease

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The sea anemone is an oddball: half-plant and half-animal, at least when it comes to its genetic code, new research suggests.

The sea creature's genes look more like those of animals, but the regulatory code that determines whether those genes are expressed resembles that in plants, according to a study published Tuesday (March 18) in the journal Genome Research.

The sea anemone is a genetic oddball, with some traits similar to plants and others more closely resembling higher animals.

What's more, the complicated network of gene interactions found in the simple sea anemone resembles that found in widely divergent, more complex animals.

"Since the sea anemone shows a complex landscape of gene regulatory elements similar to the fruit fly or other model animals, we believe that this principle of complex gene regulation was already present in the common ancestor of human, fly and sea anemone some 600 million years ago," Michaela Schwaiger, a researcher at the University of Vienna, said in a statement. [See Stunning Photos of Glowing Sea Creatures]

A simple plan

The size of an organism's genome doesn't correspond to how simple or complex that creature's body is, so some scientists hypothesized that more complicated links and networks between genes made for more sophisticated body plans.

Schwaiger and her colleagues at the University of Vienna analyzed the genome of the sea anemone, not only identifying genes that code for proteins, but also assessing snippets of code known as promoters and enhancers, which help turn the volume up or down on gene expression.

The team found the sea anemone's simple anatomy hides a complicated network of gene interactions, similar to those found in higher animals such as fruit flies and humans. That belies the notion that more complex gene networks always correlate with more elaborate body plans, and also suggests the evolution of this level of gene regulation happened before sea anemones, fruit flies and humans diverged, about 600 million years ago.

Follow Tia Ghose on Twitter and Google+. Follow Live Science on Twitter, Facebook & Google+. This is a condensed version of a report from LiveScience. Read the full report.

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Sea Anemones Are Half-Plant, Half-Animal, Gene Study Finds

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The same gene family that may have helped the human brain become larger and more complex than in any other animal also is linked to the severity of autism, according to new research from the University of Colorado Anschutz Medical Campus.

The gene family is made up of over 270 copies of a segment of DNA called DUF1220. DUF1220 codes for a protein domain -- a specific functionally important segment within a protein. The more copies of a specific DUF1220 subtype a person with autism has, the more severe the symptoms, according to a paper published in the PLoS Genetics.

This association of increasing copy number (dosage) of a gene-coding segment of DNA with increasing severity of autism is a first and suggests a focus for future research into the condition Autism Spectrum Disorder (ASD). ASD is a common behaviorally defined condition whose symptoms can vary widely -- that is why the word "spectrum" is part of the name. One federal study showed that ASD affects one in 88 children.

"Previously, we linked increasing DUF1220 dosage with the evolutionary expansion of the human brain," says James Sikela, PhD, a professor in the Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine. Sikela is the corresponding author of the study that was just published.

"One of the most well-established characteristics of autism is an abnormally rapid brain growth that occurs over the first few years of life. That feature fits very well with our previous work linking more copies of DUF1220 with increasing brain size. This suggests that more copies of DUF1220 may be helpful in certain situations but harmful in others."

The research team found that not only was DUF1220 linked to severity of autism overall, they found that as DUF1220 copy number increased, the severity of each of three main symptoms of the disorder -- social deficits, communicative impairments and repetitive behaviors -- became progressively worse.

In 2012, Sikela was the lead scientist of a multi-university team whose research established the link between DUF1220 and the rapid evolutionary expansion of the human brain. The work also implicated DUF1220 copy number in brain size both in normal populations as well as in microcephaly and macrocephaly (diseases involving brain size abnormalities).

The first author of the autism study, Jack Davis, PhD, who contributed to the project while a postdoctoral fellow in the Sikela lab, has a son with autism and thus had a very personal motivation to seek out the genetic factors that cause autism.

The research by Davis, Sikela and colleagues at the Anschutz campus in Aurora, Colo., focused on the presence of DUF1220 in 170 people with autism.

Strikingly, Davis says, DUF1220 is as common in people who do not have ASD as in people who do. So the link with severity is only in people who have the disorder.

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Gene family linked to brain evolution implicated in severity of autism symptoms

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

20-Mar-2014

Contact: Dan Meyers dan.meyers@ucdenver.edu University of Colorado Denver

The same gene family that may have helped the human brain become larger and more complex than in any other animal also is linked to the severity of autism, according to new research from the University of Colorado Anschutz Medical Campus.

The gene family is made up of over 270 copies of a segment of DNA called DUF1220. DUF1220 codes for a protein domain a specific functionally important segment within a protein. The more copies of a specific DUF1220 subtype a person with autism has, the more severe the symptoms, according to a paper published in the PLoS Genetics.

This association of increasing copy number (dosage) of a gene-coding segment of DNA with increasing severity of autism is a first and suggests a focus for future research into the condition Autism Spectrum Disorder (ASD). ASD is a common behaviorally defined condition whose symptoms can vary widely that is why the word "spectrum" is part of the name. One federal study showed that ASD affects one in 88 children.

"Previously, we linked increasing DUF1220 dosage with the evolutionary expansion of the human brain," says James Sikela, PhD, a professor in the Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine. Sikela is the corresponding author of the study that was just published.

"One of the most well-established characteristics of autism is an abnormally rapid brain growth that occurs over the first few years of life. That feature fits very well with our previous work linking more copies of DUF1220 with increasing brain size. This suggests that more copies of DUF1220 may be helpful in certain situations but harmful in others."

The research team found that not only was DUF1220 linked to severity of autism overall, they found that as DUF1220 copy number increased, the severity of each of three main symptoms of the disorder -- social deficits, communicative impairments and repetitive behaviors became progressively worse.

In 2012, Sikela was the lead scientist of a multi-university team whose research established the link between DUF1220 and the rapid evolutionary expansion of the human brain. The work also implicated DUF1220 copy number in brain size both in normal populations as well as in microcephaly and macrocephaly (diseases involving brain size abnormalities).

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The gene family linked to brain evolution is implicated in severity of autism symptoms

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PUBLIC RELEASE DATE:

21-Mar-2014

Contact: John Ascenzi ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia

Long before next-generation sequencing technology ushered in today's data-intensive era of human genome information, clinicians have been taking family histories by jotting down pedigrees: hand-drawn diagrams recording how diseases may recur across generations, and offering clues to inheritance patterns.

Now healthcare providers can create those diagrams digitally on an iPad screen with a few finger taps, during a face-to-face encounter with an individual and his or her family. Users can store the pedigrees in a standardized format, make corrections flexibly as they gather new information, and export the diagrams so they can be used in other applications such as electronic medical records.

"Instead of storing a pedigree on a piece of paper in a physical file, we can capture the information with an easy-to-use interface that produces accessible data," said Jeff Miller, lead analyst at the Center for Biomedical Informatics (CBMi) at The Children's Hospital of Philadelphia. Miller led the CBMi team that developed the Proband app, which made its debut today on the iTunes App StoreSM. Genetic counselors, clinical genetics specialists and others can download the app for a limited-time introductory price of $1.99.

Designed for use as a data collection tool during a genetic counseling interview or in similarly interactive settings, Proband uses a simple, gesture-based interface to make drawing pedigrees as efficient as drawing on paper. Users can quickly create even the most complex family pedigrees simply and easily using standard nomenclature and symbols. "We designed this app for ease of use with options appearing as you need them," said Miller. "Our goal is to make those features contextually relevant, and not to overwhelm the user."

Mindy Li, M.D., a clinical genetics fellow at CHOP, is one of those who helped test the app, providing critiques and feedback to the CBMi development team. "One strength for me as a clinician is being able to set the device on my lap while I conduct an interviewit's a better interaction than if I had to turn toward a computer screen and input the information," she said.

A suggestion of hers that was incorporated, said Li, was to allow for careful spacing and alignment, to make it clear which individuals belong to each generation: "Alignment is importantyou have to see children in their correct generation." An auto-alignment button on the app screen helps to straighten that out. She added, "As health technology in general is moving toward electronic data, it's important to have pedigrees easy to read and easy to integrate." Compared to reviewing traditional hand-drawn pedigrees, she doesn't have to decipher someone else's handwriting or idiosyncratic abbreviations.

Miller and other team members are presenting Proband at the annual meeting of the American College of Medical Genetics and Genomics, March 28 in Nashville.

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With a few finger taps, draw genetic pedigrees at point of care with new app

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Newswise NEW YORK, NY (March 21, 2014) Researchers at Columbia University Medical Center (CUMC) have devised a new system for classifying periodontal disease based on the genetic signature of affected tissue, rather than on clinical signs and symptoms. The new classification system, the first of its kind, may allow for earlier detection and more individualized treatment of severe periodontitis, before loss of teeth and supportive bone occurs. The findings were published recently in the online edition of the Journal of Dental Research.

Currently, periodontal disease is classified as either chronic or aggressive, based on clinical signs and symptoms, such as severity of gum swelling and extent of bone loss. However, there is much overlap between the two classes, said study leader Panos N. Papapanou, DDS, PhD, professor and chair of oral and diagnostic sciences at the College of Dental Medicine at CUMC. Many patients with severe symptoms can be effectively treated, while others with seemingly less severe infection may continue to lose support around their teeth even after therapy. Basically, we dont know whether a periodontal infection is truly aggressive until severe, irreversible damage has occurred.

Looking for a better way to classify periodontitis, Dr. Papapanou turned to cancer as a model. In recent years, cancer biologists have found that, in some cancers, clues to a tumors aggressiveness and responsiveness to treatment can be found in its genetic signature. To determine if similar patterns could be found in periodontal disease, the CUMC team performed genome-wide expression analyses of diseased gingival (gum) tissue taken from 120 patients with either chronic or aggressive periodontitis. The test group included both males and females ranging in age from 11 to 76 years.

The researchers found that, based on their gene expression signatures, the patients fell into two distinct clusters. The clusters did not align with the currently accepted periodontitis classification, said Dr. Papapanou. However, the two clusters did differ with respect to the extent and severity of periodontitis, with significantly more serious disease in Cluster 2. The study also found higher levels of infection by known oral pathogens, as well as a higher percentage of males, in Cluster 2 than in Cluster 1, in keeping with the well-established observation that severe periodontitis is more common in men than in women.

Our data suggest that molecular profiling of gingival tissues can indeed form the basis for the development of an alternative, pathobiology-based classification of periodontitis that correlates well with the clinical presentation of the disease, said Dr. Papapanou.

The researchers next goal is to conduct a prospective study to validate the new classification systems ability to predict disease outcome. The team also hopes to find simple surrogate biomarkers for the two clusters, as it would be impractical to perform genome-wide testing on every patient.

The new system could offer huge advantages for classifying people with different types of periodontitis. If a patient is found to be highly susceptible to severe periodontitis, we would be justified in using aggressive therapies, even though that person may have subclinical disease, said Dr. Papapanou. Now, we wait years to make this determination, and by then, significant damage to the tooth-supporting structures may have occurred.

The paper is titled, Gingival Tissue Transcriptomes Identify Distinct Periodontitis Phenotypes. The other contributors are M. Kebschull (CUMC), R.T. Demmer (CUMC), B. Grn (University of Linz, Linz, Austria), P. Guarnieri (CUMC), and P. Pavlidis (University of British Columbia, Vancouver, BC, Canada).

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Genetic Signature Reveals New Way to Classify Gum Disease

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Washington, March 21 : Researchers have reported a defined genetic defect that causes a subset of irritable bowel syndrome (IBS).

Researchers found that patients with a subset of IBS have a specific genetic defect, a mutation of the SCN5A gene. This defect causes patients to have a disruption in bowel function, by affecting the Nav1.5 channel, a sodium channel in the gastrointestinal smooth muscle and pacemaker cells.

Gianrico Farrugia, M.D., a study author, Mayo Clinic gastroenterologist and director of the Mayo Clinic Center for Individualized Medicine, said that this gives them hope that from only treating symptoms of the disease, they can work to find disease-modifying agents, which is where they really want to be to affect long-term treatment of IBS.

Researchers studied the sodium channel of 584 people with IBS and 1,380 control subjects. The analysis demonstrated that a defect in the SCN5A gene was found in 2.2 percent of IBS patients. The results were confirmed in a genome-wide association study and replicated in 1,745 patients in four independent cohorts of patients with IBS and control subjects.

The research has been published in the journal Gastroenterology.

--ANI (Posted on 22-03-2014)

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Genetic clue to irritable bowel syndrome found

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Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.

STORY HIGHLIGHTS

(CNN) -- What do you do when your baby lies limp in your arms, staring blankly into the distance while never crying?

What do you do when tests show signs of liver damage and your baby's seizures won't stop, but doctors can't tell you what's wrong or how to fix it?

Thanks to the Human Genome Project, which was completed in 2003, identifying new genetic mutations has gotten easier and cheaper. But geneticists often struggle to find patients who share these rare DNA quirks. Studying multiple patients with the same gene mutations and similar symptoms is crucial to identifying a new genetic disorder.

That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable.

The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

And they credit an "Internet blog" with bringing the patients and scientists together.

Grace's genome

Grace Wilsey's parents knew something was wrong right away. Their newborn daughter was lethargic. Her eyes seemed hollow and unfocused. She refused to eat. Doctors at the hospital ran multiple tests, but couldn't come up with a diagnosis.

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New disorder: Kids who don't cry

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Genetics Test Prep Notecard 1
Genetics Test Prep Notecard 1.

By: P2PScienceSessions

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Genetics Test Prep Notecard 1 - Video

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Genetics I. Patterns of Inheritance
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Genetics I. Patterns of Inheritance - Video

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Shares of Myriad Genetics Inc. ( MYGN ) gained 1.78% at yesterday's close, soon after the company announced favorable data from the Milieu Interieur Project that was published in the journal Immunity . This initial data was published jointly by Myriad Genetics' wholly owned subsidiary, Myriad RBM and privately held Institut Pasteur, a non-profit foundation working on prevention and cure of infection diseases.

The Milieu Interieur Project is a population-based study undertaken with the aim to characterize the immune phenotypes of 1,000 healthy subjects in response to 32 complex immune stimulants. This study has been supported by the French National Ministry of Research and coordinated by the Institut Pasteur.

The results in the Immunity journal show that Myriad RBM's TruCulture (a proprietary blood collection and culturing system used to characterize individual immune responses of 25 healthy people to medically relevant stimuli) stimulations are reproducible, with close correspondence in repeated tests from the same subject. According to Myriad Genetics, the outcome of this project may create a landmark making way for the development of cutting-edge diagnostics and companion diagnostics.

Myriad Genetics is currently targeting expansion of its pipeline with products for diverse indications including oncology, women's health, urology, dermatology, autoimmune and inflammatory disease and neuroscience. To achieve this objective, the company has decided to pursue internal developments, in-licensing of technologies and acquisitions to expand its business. We are sanguine about these developments as some of the pipeline candidates look promising enough to cater to a billion-dollar market size.

Myriad Genetics' increasing focus on the companion diagnostic market should work in its favor fuelling growth. We look forward to the expansion of indications and derive comfort from the company's plan to foray into the dermatology, autoimmune and neuroscience market in the near future, on the back of portfolio development.

Currently, the stock carries a Zacks Rank #2 (Buy). Some other well-placed stocks that are worth a look are Alexion Pharmaceuticals, Inc. ( ALXN ), Gilead Sciences Inc. ( GILD ) and Actelion Ltd. ( ALIOF ). While ALXN and GILD hold a Zacks Rank #1 (Strong Buy), ALIOF carries a Zacks Rank #2.

ACTELION LTD (ALIOF): Get Free Report

ALEXION PHARMA (ALXN): Free Stock Analysis Report

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MYRIAD GENETICS (MYGN): Free Stock Analysis Report

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Favorable Data for Myriad Genetics - Analyst Blog

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IBM Watson and New York Genome Center
Dr. Robert Darnell, President, CEO Scientific Director of the New York Genome Center, explains the goals of the collaboration with IBM to harness IBM Watso...

By: IBMSocialMedia

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IBM Watson and New York Genome Center - Video

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Birthday beat box and break dancing (yr after TBI and spinal cord injury). I think he #39;s still got it
via YouTube Capture.

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Birthday beat box and break dancing (yr after TBI and spinal cord injury). I think he's still got it - Video

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San Jose Eagles 2014 Spinal Cord Injury Dinner Check Presentation
http://www.sanjoseeagles.org The San Jose Fraternal Order of Eagles is a non-profit all volunteer charitable organization that raises funds for those in need...

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San Jose Eagles 2014 Spinal Cord Injury Dinner & Check Presentation - Video

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Creation of innovative technology-based companies in(...)
1st International Congress on Biomedical Research Innovation - Creation of innovative technology-based companies in the public health system The Institute ...

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Hip conditions treated with Stem Cell Therapy and PRP
In this video, Ross Hauser, MD discusses some of the most common hip conditions that we treat at Caring Medical with Stem Cell Therapy and Platelet Rich Plas...

By: Caring Medical and Rehabilitation Services

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Hip conditions treated with Stem Cell Therapy and PRP - Video

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Traumatic brain injuries (TBI), sustained by close to 2 million Americans annually, including military personnel, are debilitating and devastating for patients and their families. Regardless of severity, those with TBI can suffer a range of motor, behavioral, intellectual and cognitive disabilities over the short or long term. Sadly, clinical treatments for TBI are few and largely ineffective.

In an effort to find an effective therapy, neuroscientists at the Center of Excellence for Aging and Brain Repair, Department of Neurosurgery in the USF Health Morsani College of Medicine, University of South Florida, have conducted several preclinical studies aimed at finding combination therapies to improve TBI outcomes.

In their study of several different therapies -- alone and in combination -- applied to laboratory rats modeled with TBI, USF researchers found that a combination of human umbilical cord blood cells (hUBCs) and granulocyte colony stimulating factor (G-CSF), a growth factor, was more therapeutic than either administered alone, or each with saline, or saline alone.

The study appeared in a recent issue of PLoS ONE.

"Chronic TBI is typically associated with major secondary molecular injuries, including chronic neuroinflammation, which not only contribute to the death of neuronal cells in the central nervous system, but also impede any natural repair mechanism," said study lead author Cesar V. Borlongan, PhD, professor of neurosurgery and director of USF's Center of Excellence for Aging and Brain Repair. "In our study, we used hUBCs and G-CSF alone and in combination. In previous studies, hUBCs have been shown to suppress inflammation, and G-CSF is currently being investigated as a potential therapeutic agent for patients with stroke or Alzheimer's disease."

Their stand-alone effects have a therapeutic potential for TBI, based on results from previous studies. For example, G-CSF has shown an ability to mobilize stem cells from bone marrow and then infiltrate injured tissues, promoting self-repair of neural cells, while hUBCs have been shown to suppress inflammation and promote cell growth.

The involvement of the immune system in the central nervous system to either stimulate repair or enhance molecular damage has been recognized as key to the progression of many neurological disorders, including TBI, as well as in neurodegenerative diseases such as Parkinson's disease, multiple sclerosis and some autoimmune diseases, the researchers report. Increased expression of MHCII positive cells -- cell members that secrete a family of molecules mediating interactions between the immune system's white blood cells -- has been directly linked to neurodegeneration and cognitive decline in TBI.

"Our results showed that the combined therapy of hUBCs and G-CSF significantly reduced the TBI-induced loss of neuronal cells in the hippocampus," said Borlongan. "Therapy with hUBCs and G-CSF alone or in combination produced beneficial results in animals with experimental TBI. G-CSF alone produced only short-lived benefits, while hUBCs alone afforded more robust and stable improvements. However, their combination offered the best motor improvement in the laboratory animals."

"This outcome may indicate that the stem cells had more widespread biological action than the drug therapy," said Paul R. Sanberg, distinguished professor at USF and principal investigator of the Department of Defense funded project. "Regardless, their combination had an apparent synergistic effect and resulted in the most effective amelioration of TBI-induced behavioral deficits."

The researchers concluded that additional studies of this combination therapy are warranted in order to better understand their modes of action. While this research focused on motor improvements, they suggested that future combination therapy research should also include analysis of cognitive improvement in the laboratory animals modeled with TBI.

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Stem cell combination therapy improves traumatic brain injury outcomes

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

20-Mar-2014

Contact: Anne DeLotto Baier abaier@health.usf.edu 813-974-3303 University of South Florida (USF Innovation)

Tampa, FL (Mar. 20, 2014) Traumatic brain injuries (TBI), sustained by close to 2 million Americans annually, including military personnel, are debilitating and devastating for patients and their families. Regardless of severity, those with TBI can suffer a range of motor, behavioral, intellectual and cognitive disabilities over the short or long term. Sadly, clinical treatments for TBI are few and largely ineffective.

In an effort to find an effective therapy, neuroscientists at the Center of Excellence for Aging and Brain Repair, Department of Neurosurgery in the USF Health Morsani College of Medicine, University of South Florida, have conducted several preclinical studies aimed at finding combination therapies to improve TBI outcomes.

In their study of several different therapiesalone and in combinationapplied to laboratory rats modeled with TBI, USF researchers found that a combination of human umbilical cord blood cells (hUBCs) and granulocyte colony stimulating factor (G-CSF), a growth factor, was more therapeutic than either administered alone, or each with saline, or saline alone.

The study appeared in a recent issue of PLoS ONE.

"Chronic TBI is typically associated with major secondary molecular injuries, including chronic neuroinflammation, which not only contribute to the death of neuronal cells in the central nervous system, but also impede any natural repair mechanism," said study lead author Cesar V. Borlongan, PhD, professor of neurosurgery and director of USF's Center of Excellence for Aging and Brain Repair. "In our study, we used hUBCs and G-CSF alone and in combination. In previous studies, hUBCs have been shown to suppress inflammation, and G-CSF is currently being investigated as a potential therapeutic agent for patients with stroke or Alzheimer's disease."

Their stand-alone effects have a therapeutic potential for TBI, based on results from previous studies. For example, G-CSF has shown an ability to mobilize stem cells from bone marrow and then infiltrate injured tissues, promoting self-repair of neural cells, while hUBCs have been shown to suppress inflammation and promote cell growth.

The involvement of the immune system in the central nervous system to either stimulate repair or enhance molecular damage has been recognized as key to the progression of many neurological disorders, including TBI, as well as in neurodegenerative diseases such as Parkinson's disease, multiple sclerosis and some autoimmune diseases, the researchers report. Increased expression of MHCII positive cellscell members that secrete a family of molecules mediating interactions between the immune system's white blood cellshas been directly linked to neurodegeneration and cognitive decline in TBI.

Read more:
USF study finds stem cell combination therapy improves traumatic brain injury outcomes

Recommendation and review posted by Bethany Smith