One Slight Genetic Change Responsible For Blond Hair In Humans

June 2, 2014

redOrbit Staff & Wire Reports Your Universe Online

A subtle alternation in DNA involving one single-letter change in the genetic code is enough to generate blond hair in men and women, researchers from Howard Hughes Medical Institute and the Stanford University Medical Center report in Sundays edition of the journal Nature Genetics.

According to developmental biology professor Dr. David Kingsley and his colleagues, a molecule essential to stem cell function plays a vital role in determining a persons hair color. Their analysis for the first time explains the molecular basis for one of our most noticeable physical characteristics.

This genetic mutation is the biological mechanism that helps create that [blond] color naturally, Kingsley, who is also an investigator with Howard Hughes Medical Institute, told Karen Weintraub of National Geographic News. This is a great biological example of how traits can be controlled, and what a superficial difference blond hair color really is.

He added that the study also provides new insight into how the human genome works, since this particular mutation does not impact the protein production of any of its 20,000 genes. Rather, it causes regularly darker hair to become blonde through a process Dr. Kingsley likens to a 20 percent turn of the metaphorical thermostat dial regulating a signaling gene located in the skins hair follicles, Weintraub added.

Weve been trying to track down the genetic and molecular basis of naturally occurring traits such as hair and skin pigmentation in fish and humans to get insight into the general principles by which traits evolve, Dr. Kingley said in a statement. Now we find that one of the most crucial signaling molecules in mammalian development also affects hair color.

The signaling gene in question regulates the expression of a gene that encodes KITLG, a protein that is also known as a stem cell factor. It is also involved in the formation of blood, egg, sperm and stem cells, so completely switching it on or off could have disastrous consequences. However, the mutation impacts the amount of KITLG that is expressed in the hair follicles without altering the way its expressed elsewhere in the body.

In order to discover the blond-hair DNA mutation, the study authors examined a part of the genome that had previously been associated with blondness in people from Iceland and the Netherlands, Weintraub explained. They identified the single-letter change responsible for the trait, and then tested what that alternation did by growing human skin cells in a petri dish. The cells demonstrated a reduction in activity in the switch controlling the signaling gene.

Upon introducing the change into normally brown-haired laboratory mice, the researchers observed that the coats of the rodents became significantly lighter. Furthermore, their study demonstrated that noticeable morphological effects can be observed following slight, tissue-specific changes in the expression of genes, as well as emphasizing how difficult it is to clearly link particular DNA changes with specific clinical or phenotypic outcomes.

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One Slight Genetic Change Responsible For Blond Hair In Humans

Subtle change in DNA, protein levels determines blond or brunette tresses, study finds

PUBLIC RELEASE DATE:

1-Jun-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center

STANFORD, Calif. A molecule critical to stem cell function plays a major role in determining human hair color, according to a study from the Stanford University School of Medicine.

The study describes for the first time the molecular basis for one of our most noticeable traits. It also outlines how tiny DNA changes can reverberate through our genome in ways that may affect evolution, migration and even human history.

"We've been trying to track down the genetic and molecular basis of naturally occurring traits such as hair and skin pigmentation in fish and humans to get insight into the general principles by which traits evolve," said David Kingsley, PhD, professor of developmental biology. "Now we find that one of the most crucial signaling molecules in mammalian development also affects hair color."

Kingsley, who is also a Howard Hughes Medical Institute investigator, is the senior author of the study, which will be published online June 1 in Nature Genetics. Research specialist Catherine Guenther, PhD, is the lead author.

The researchers found that the blond hair commonly seen in Northern Europeans is caused by a single change in the DNA that regulates the expression of a gene that encodes a protein called KITLG, also known as stem cell factor. This change affects how much KITLG is expressed in the hair follicles without changing how it's expressed in the rest of the body. Introducing the change into normally brown-haired laboratory mice yields an animal with a decidedly lighter coat not quite Norma Jeane to Marilyn Monroe, but significant nonetheless.

The study shows that even small, tissue-specific changes in the expression of genes can have noticeable morphological effects. It also emphasizes how difficult it can be to clearly connect specific DNA changes with particular clinical or phenotypic outcomes. In this case, the change is subtle: A single nucleotide called an adenine is replaced by another called a guanine on human chromosome 12. The change occurs over 350,000 nucleotides away from the KITLG gene and only alters the amount of gene expression about 20 percent a relatively tiny blip on a biological scale more often assessed in terms of gene expression being 100 percent "on" or "off."

"What we're seeing is that this regulatory region exercises exquisite control over where, and how much, KITLG expression occurs," said Kingsley. "In this case, it controls hair color. In another situation perhaps under the influence of a different regulatory region it probably controls stem cell division. Dialing up and down the expression of an essential growth factor in this manner could be a common mechanism that underlies many different traits."

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Subtle change in DNA, protein levels determines blond or brunette tresses, study finds

Researchers find human menstrual blood-derived cells 'feed' embryonic stem cells

May 28, 2014

Researchers investigating the use of human menstrual blood-derived mesenchymal cells (MBMCs) as culture 'feeder layers' found that MBMCs can replace animal-derived feeder systems in human embryonic stem cell culture systems and support their undifferentiated growth, while helping the cells proliferate and survive. For medical transplantation, human embryonic stem cells (hESCs) may need to remain "undifferentiated" and the experimenter's technique preserves the undifferentiated nature of hESCs destined for transplantation and also prevents potential animal cell contamination.

To be suitable for medical transplantation, one idea is that human embryonic stem cells (hESCs) need to remain "undifferentiated" i.e. they are not changing into other cell types. In determining the best way to culture hESCs so that they remain undifferentiated and also grow, proliferate and survive, researchers have used blood cell "feeder-layer" cultures using animal-derived feeder cells, often from mice (mouse embryonic fibroblasts [MEFs]). This approach has, however, been associated with a variety of contamination problems, including pathogen and viral transmission.

To avoid contamination problems, a Brazilian research team has investigated the use of human menstrual blood-derived mesenchymal cells (MBMCs) as feeder layers and found that "MBMCs can replace animal-derived feeder systems in human embryonic stem cell culture systems and support their growth in an undifferentiated stage."

The study will be published in a future issue of Cell Medicine, but is currently freely available on-line as an unedited early e-pub.

"Human embryonic stem cells present a continuous proliferation in an undifferentiated state, resulting in an unlimited amount of cells with the potential to differentiate toward any type of cell in the human body," said study corresponding author Dr. Regina Coeli dos Santos Goldenberg of the Instituto de Biofisica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro. "These characteristics make hESCs good candidates for cell based therapies."

Feeder-layers for hESCs comprised of MEFs have been efficiently used for decades but, because of the clinical drawbacks, the authors subsequently experimented with human menstrual blood cells as a potential replacement for animal-derived feeder-layers, not only for negating the contamination issues, but also because human menstrual blood is so accessible. MBMCs are without ethical encumbrances and shortages, nor are they difficult to access - a problem with other human cells, such as umbilical cord blood cells, adult bone marrow cells or placenta cells.

"Menstrual blood is derived from uterine tissues," explained the researchers. "These cells are widely available 12 times a year from women of child-bearing age. The cells are easily obtained, possess the capability of long-term proliferation and are clinically compatible with hESCs-derived cells."

The researchers found that their culture system using MBMCs as a feeder-layer for hESCs are the "closest and more suitable alternative to animal-free conditions for growing hESCs" and a "good candidate for large-expansion of cells for clinical application." They also found no difference in growth factor expression when comparing the use of growth factors in both the standard feeder system using animal cells and the feeder system they tested using hESCs.

"It is also noteworthy to highlight that our group reported the rapid and efficient generation of induced pluripotent stem cells (iPSCs) from MBMCs, indicating that these cells can be used as a model to study patient-specific disease and that in the future they might be used in clinical settings."

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Researchers find human menstrual blood-derived cells 'feed' embryonic stem cells

Researchers Use Light To Coax Stem Cells To Repair Teeth

A Harvard-led team is the first to demonstrate the ability to use low-power light to trigger stem cells inside the body to regenerate tissue, an advance they reported in Science Translational Medicine. The research, led by Wyss Institute Core Faculty member David Mooney, Ph.D., lays the foundation for a host of clinical applications in restorative dentistry and regenerative medicine more broadly, such as wound healing, bone regeneration, and more.

The team used a low-power laser to trigger human dental stem cells to form dentin, the hard tissue that is similar to bone and makes up the bulk of teeth. What's more, they outlined the precise molecular mechanism involved, and demonstrated its prowess using multiple laboratory and animal models.

A number of biologically active molecules, such as regulatory proteins called growth factors, can trigger stem cells to differentiate into different cell types. Current regeneration efforts require scientists to isolate stem cells from the body, manipulate them in a laboratory, and return them to the bodyefforts that face a host of regulatory and technical hurdles to their clinical translation. But Mooney's approach is different and, he hopes, easier to get into the hands of practicing clinicians.

"Our treatment modality does not introduce anything new to the body, and lasers are routinely used in medicine and dentistry, so the barriers to clinical translation are low," said Mooney, who is also the Robert P. Pinkas Family Professor of Bioengineering at Harvard's School of Engineering and Applied Sciences (SEAS). "It would be a substantial advance in the field if we can regenerate teeth rather than replace them."

The team first turned to lead author and dentist Praveen Arany, D.D.S., Ph.D., who is now an Assistant Clinical Investigator at the National Institutes of Health (NIH). At the time of the research, he was a Harvard graduate student and then postdoctoral fellow affiliated with SEAS and the Wyss Institute.

Arany took rodents to the laboratory version of a dentist's office to drill holes in their molars, treat the tooth pulp that contains adult dental stem cells with low-dose laser treatments, applied temporary caps, and kept the animals comfortable and healthy. After about 12 weeks, high-resolution x-ray imaging and microscopy confirmed that the laser treatments triggered the enhanced dentin formation.

"It was definitely my first time doing rodent dentistry," said Arany, who faced several technical challenges in performing oral surgery on such a small scale. The dentin was strikingly similar in composition to normal dentin, but did have slightly different morphological organization. Moreover, the typical reparative dentin bridge seen in human teeth was not as readily apparent in the minute rodent teeth, owing to the technical challenges with the procedure.

"This is one of those rare cases where it would be easier to do this work on a human," Mooney said.

Next the team performed a series of culture-based experiments to unveil the precise molecular mechanism responsible for the regenerative effects of the laser treatment. It turns out that a ubiquitous regulatory cell protein called transforming growth factor beta-1 (TGF-1) played a pivotal role in triggering the dental stem cells to grow into dentin. TGF-1 exists in latent form until activated by any number of molecules.

Here is the chemical domino effect the team confirmed: In a dose-dependent manner, the laser first induced reactive oxygen species (ROS), which are chemically active molecules containing oxygen that play an important role in cellular function. The ROS activated the latent TGF-1complex which, in turn, differentiated the stem cells into dentin.

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Researchers Use Light To Coax Stem Cells To Repair Teeth

Can Tai Chi slow the aging process?

PUBLIC RELEASE DATE:

28-May-2014

Contact: Robert Miranda cogcomm@aol.com Cell Transplantation Center of Excellence for Aging and Brain Repair

Putnam Valley, NY. (May 28, 2014) Tai Chi, a traditional Chinese martial art and sport, has been found to be beneficial in raising the numbers of an important type of cell when three groups of young people were tested to discover the benefits of Tai Chi, brisk walking or no exercise. The group performing Tai Chi saw a rise in their cluster of differentiation 34 expressing (CD34+) cells, a stem cell important to a number of the body's functions and structures.

The study was published in issue 23(4/5) of Cell Transplantation and is freely available on-line at: http://www.ingentaconnect.com/content/cog/ct/2014/00000023/F0020004/art00020.

"To evaluate the potential life-lengthening effect of Tai Chi, we conducted a year-long, retrospective cross-sectional study comparing the rejuvenating and anti-aging effects among three groups of volunteers under the age of 25 who engaged in either Tai Chi (TCC), brisk walking (BW), or no exercise habit (NEH)," said study corresponding author Dr. Shinn-Zong Lin of the Center for Neuropsychiatry, China Medical University Hospital, Taichung, Taiwan. "We used young volunteers because they have better cell-renewing abilities than the old population and we also wanted to avoid having chronic diseases and medications as interfering factors."

According to the authors, Tai Chi "has been confirmed to benefit" patients with mild to moderate Parkinson's disease and fibromyalgia. In addition, they cite possible advantages of Tai Chi in pain reduction, fall prevention and balance improvement, aerobic capacity, blood pressure, quality of life and stress reduction.

"Compared with the NEH group, the TCC group had a significantly higher number of CD 34+ cells," wrote the authors. "We found that the CD34+ cell count of the TCC group was significantly higher than the BW group."

CD 34+ cells, they explained, express the CD 34 protein and are "cluster markers" for hematopoietic stem cells (blood stem cells) involved in cell self-renewal, differentiation and proliferation.

"It is possible that Tai Chi may prompt vasodilation and increase blood flow," said Lin. "Considering that BW may require a larger space or more equipment, Tai Chi seems to be an easier and more convenient choice of anti-aging exercise." "This study provides the first step into providing scientific evidence for the possible health benefits of Tai Chi." said Dr. Paul R. Sanberg, distinguished professor at the Center of Excellence for Aging and Brain Repair, Morsani College of Medicine, University of South Florida, Tampa, FL. "Further study of how Tai Chi can elicit benefit in different populations and on different parameters of aging are necessary to determine its full impact."

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Can Tai Chi slow the aging process?

A new genetic switching element

13 hours ago Stem cells. Credit: Nissim Benvenisty - Wikipedia

Slight modifications in their genome sequences play a crucial role in the conversion of pluripotent stem cells into various differentiated cell types. A team at Ludwig-Maximilians-Universitaet (LMU) in Munich has now identified the factor responsible for one class of modification.

Every cell contains stored hereditary information, encoded in the sequence of nucleobases that make up its DNA. However, in any given cell type, only a fraction of this information is actually used. Which genes are activated and which are turned off is in part determined by a second tier of information which is superimposed on the nucleotide sequences that provide the blueprints for protein synthesis. This so-called epigenetic level of control is based on the localized, and in principle reversible, attachment of simple chemical tags to specific nucleotides in the genome. This system plays a major role in the regulation of gene activity, and enables the selective expression of different functions in differentiated cell types.

This explains why such DNA modifications play a major role in the differentiation of stem cells. "Several unusual nucleobases have been found in the genomes of stem cells, which are produced by targeted chemical modification of the known building blocks of DNA. These 'atypical' bases are thought to be important in determining what types of differentiated cells can be derived from a given stem cell line," says Professor Thomas Carell from the Department of Chemistry at LMU. All of the unconventional bases so far discovered are derived from the same standard base cytosine. Furthermore, Carell and his team have shown in earlier work that so-called Tet enzymes are always involved in their synthesis.

Base oxidation regulates gene activity

In cooperation with colleagues at LMU, as well as researchers based in Berlin, Basel and Utrecht, Carell and his group have now shown, for the first time, that a standard base other than cytosine is also modified in embryonic stem cells of mice. Moreover, Tet is at work here too. "During the development of specialized tissues from stem cells, enzymes belonging to the Tet family also oxidize the thymidine base, as we have now shown with the aid of highly sensitive analytical methods based on mass spectrometry. The product of the reaction, hydroxymethyluracil, was previously and as it now turns out, erroneously thought to be synthesized by a different pathway," Carell explains.

The precise function of hydroxymethyluracil remains unclear. However, using an innovative method for the identification of factors capable of binding to and "reading" the chemical tags that characterize unconventional DNA bases, Carell and colleagues have shown that stem cells contain specific proteins that recognize hydroxymethyluracil, and could therefore contribute to the regulation of gene activity in these cells. "We hope that these new insights will make it possible to modulate the differentiation of stem cells causing them to generate cells of a particular type," says Carell. "It would be wonderful if we were one day able to generate whole organs starting from differentiated cells produced, on demand, by stem cell populations."

Explore further: Researchers identify transcription factors distinguishing glioblastoma stem cells

More information: http://www.nature.com/nchembio/journal/vaop/ncurrent/full/nchembio.1532.html

The activity of four transcription factors proteins that regulate the expression of other genes appears to distinguish the small proportion of glioblastoma cells responsible for the aggressiveness and treatment resistance ...

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A new genetic switching element

OHSU Scientist Pushes Forward With Stem Cell Research

Contributed By:

Dave Blanchard

OPB | May 22, 2014 12:06 p.m. | Updated: May 22, 2014 1:51 p.m.

An egg cell's nucleus is extracted by apipette.

OHSU

This March, Oregon Health & Science University (OHSU) created a new Center for Embryonic Cell and Gene Therapy. The facility will be focused in part on advancing the work of Shoukhrat Mitalipov, one of the worlds leading researchers on embryonic stem cells. Mitalipov has been working for years on two promising areas of stem cellscience.

The first research area is a gene therapy for women with diseases stored in DNA located in their mitochondria. Mitalipovs lab has developed a technique to extract the nucleus from a cell with damaged mitochondrial DNA, and implant it in a cell with healthy mitochondria. The process would allow most of the mothers DNA to be inherited by her child, without the risk of the mitochondrial diseases. Mitalipov hopes to begin clinical trials of the procedure, and the FDA is in the process of deciding whether to approve the technique soon. Some critics have ethical and medical concerns about creating an embryo with DNA from three differentpeople.

The second area, which has garnered even more attention, is the field of embryonic stem cell cloning. Last May, Mitalipovs lab became the first team to create human embryonic stem cells by cloning a breakthrough that was highlighted by Nature, Discover, Science, and National Geographic as one of the most significant science stories of the year. Now Miltalipovs lab is trying to figure out how to further that field ofresearch.

Well check in with Mitalipov to hear about his hopes for his areas of research, and where he thinks the future holds for stem cell science and genetherapy.

Rose E. Tucker Charitable Trust

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OHSU Scientist Pushes Forward With Stem Cell Research

CP Help Center Adds Latest On Stem Cell Therapy For Cerebral Palsy

New York, NY (PRWEB) May 15, 2014

The birth injury patient advocates at CerebralPalsyHelp.org are alerting parents of children with cerebral palsy of new treatment information on the site. Doctors in Vietnam recently became the first to perform a stem cell transplant on a patient to treat cerebral palsy*.

The CP Help Center is a national advocacy center providing the latest on cerebral palsy treatment, clinical trials, resources and litigation news. Parents can learn more about their childs condition and how it may have been caused, get information on available assistance, and decide if they should seek legal advice.

Cerebral palsy affects muscle movement, coordination and posture. It is the leading cause of functional and developmental disability in children in the United States**, occurring in approximately 3.3 out of every 1,000 births, or around 10,000 infants per year**.

While CP affects muscle function, it is actually a neurological disorder caused by damage to parts of the brain that control muscle function***. This usually occurs before, during or after birth***.

Cerebral palsy may be caused by factors occurring to the fetus during pregnancy, or by trauma or asphyxiation during labor***. Unfortunately, there is no cure for cerebral palsy at this time. However, several treatment options are available to help those with the disorder reduce the effects***.

Now, the CP Help Center has learned that a hospital in Hanoi, Vietnam recently performed the first ever stem cell transplant on a 13 month-old boy suffering from cerebral palsy*. Doctors there believe the procedure could have a 60-70% success rate on younger patients with average to severe forms of the disorder*.

Anyone whose child has been diagnosed with cerebral palsy should learn more about how their condition was caused, or speak with a lawyer about their legal options. The CP Help Center only recommends lawyers who specialize in cerebral palsy lawsuits.

For more information on the research, treatment, causes and litigation news related to cerebral palsy, or to speak with a lawyer, visit http://www.cerebralpalsyhelp.org today.

*Thanh Nien News, 4/15/14; thanhniennews.com/health/vietnam-uses-stem-cell-transplant-to-treat-cerebral-palsy-25228.html **National Institute of Health; ninds.nih.gov/disorders/cerebral_palsy/cerebral_palsy.htm ***March of Dimes; marchofdimes.com/baby/cerebral-palsy.aspx

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CP Help Center Adds Latest On Stem Cell Therapy For Cerebral Palsy

Canyon News – $4 Million Gift Given For Medical Research

$4 Million Gift Given For Medical Research Posted by Alex Nochez on May 15, 2014 - 5:48:54 AM

WESTWOODTwo gifts were bestowed to UCLA in the amount of $4 million on May 8.

Eli and Edythe Broad.

The donation from The Eli and Edythe Broad Foundation is aimed at funding the Broad Stem Cell Research Center and the Division of Digestive Diseases, according to a statement from the school.

Two million dollars were given to the Broad Stem Cell Research Center to add to the $20 million already given to the center by The Broad Foundation since 2007. The gift will further the efforts of the center's Innovation Award program, which gives researchers seed funding that allows them to gain additional funding for their projects. Agencies like the National Institutes of Health and the California Institute of Regenerative Medicine have contributed grants to these projects, with the latter agency having given over $200 million so far.

The Broads' generous support has been essential to the development of new therapies that are currently in, or very near, clinical trials for treating blindness, sickle cell disease and cancer, said Director of the Broad Stem Cell Research Center Dr. Owen Witte.

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Canyon News - $4 Million Gift Given For Medical Research

BioTime Announces First Quarter 2014 Results and Recent Developments

ALAMEDA, Calif.--(BUSINESS WIRE)--BioTime, Inc. (NYSE MKT: BTX) today reported financial results for the first quarter ended March 31, 2014 and highlighted recent corporate accomplishments.

BioTimes efforts in the first quarter of 2014 were focused on advancing near-term products through clinical trials while also preparing certain novel stem cell-based therapeutics for clinical trials later this year. Enrollment in three diagnostic clinical studies has remained rapid, with completion expected later in 2014. Following the successful safety trial of ReneviaTM, we have made rapid progress in preparing for the pivotal ReneviaTM trial during the second half of the year, said Michael D. West, Ph.D., BioTimes Chief Executive Officer. At our subsidiary Asterias Biotherapeutics, we have been preparing to initiate a new Phase 1/2a clinical trial of OPC1 for the treatment of spinal cord injury in 2014, pending clearance from the FDA, and also preparing our VAC2 cancer vaccine for a potential clinical trial. Also in the quarter, BioTimes subsidiary Cell Cure Neurosciences Ltd. advanced preclinical development of OpRegen for a planned IND filing in 2014 for the treatment of age-related macular degeneration.

We have continued to develop our subsidiaries businesses, commented Dr. West. Shares of the Series A common stock of our subsidiary Asterias Biotherapeutics, Inc. are now scheduled to begin trading publicly this summer following Gerons distribution of those shares to its stockholders, for which a record date of May 28th has been set. We were also pleased to recently announce that LifeMap Solutions, Inc., a newly organized subsidiary of our LifeMap Sciences, Inc., has entered into an agreement with a major medical center to create innovative mobile health (mHealth) products powered by biomedical and other personal big data.

As the industry leader in regenerative medicine with over 600 patents and patent applications worldwide, BioTime and its subsidiaries have assembled a broad array of strategically important regenerative medicine technologies and assets for the development of therapeutic and diagnostic products, Dr. West continued. Our expenditure levels were higher than usual during the fourth quarter and the recently ended first quarter, but our recent progress in streamlining our workforce through shared core resources among our subsidiaries should reduce our cash burn rate and optimize value for our shareholders during this exciting time in the companys history. We would like to thank our long-term investors for their continued support and our collaborators at leading academic medical institutions for their help in advancing our products toward our goal of helping patients who have serious unmet medical needs.

First Quarter and Recent Highlighted Corporate Accomplishments

Financial Results

Revenue

For the quarter ended March 31, 2014, on a consolidated basis, total revenue was $1.1 million, up $0.5 million from $0.6 million for the same period one year ago. The increase in first quarter revenue is primarily attributable to grant income awarded to BioTimes subsidiary Cell Cure Neurosciences Ltd. from Israels Office of the Chief Scientist.

Expenses

Operating expenses for the three months ended March 31, 2014 were $12.1 million, compared to expenses of $8.8 million for the same period of 2013. The increase in operating expenses is primarily attributable to an increase in staffing and the expansion of research and development efforts of Asterias and the amortization expense of intangible assets recorded in connection with the Geron stem cell asset acquisition in October 2013.

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BioTime Announces First Quarter 2014 Results and Recent Developments