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Archive for the ‘Gene Therapy Research’ Category

Why personalised medicine is bad for us all

The growth of personalised medicine threatens the communal approach that has brought our biggest health gains

ADVOCATES of personalised medicine claim that healthcare isn't individualised enough.

Backed up by the glamour of new biotechnologies such as direct-to-consumer genetic testing, personalised medicine what I call "Me Medicine" appears to its advocates as the inevitable and desirable way to go. Barack Obama, when still a US senator, declared that "in no area of research is the promise greater than in personalised medicine".

This trend towards Me Medicine is led by the US, but it is growing across the developed world.

In contrast, "We Medicine" public-health programmes such as flu shots or childhood vaccination is increasingly distrusted and vulnerable to austerity cuts. Yet historically this approach has produced the biggest increase in lifespan. Even today, countries with more social provision of healthcare and less individualistic attitudes have better health outcomes across all social classes.

Contrary to the claims of its proponents, the personalised approach hasn't yet delivered a paradigm shift in medicine. A 2012 Harris poll of 2760 US patients and physicians found that doctors had recommended personal genetic tests for only 4 per cent of patients. The Center for Health Reform & Modernization, run by US healthcare company UnitedHealth, put the figure at just 2 per cent.

But money is still pouring into Me Medicine. In July, the UK government announced that it would offer private companies a subsidy from a 300 million fund to encourage investment in its personalised medicine initiative, Genomics England. Last year the US administration increased the National Institutes of Health budget for personalised medicine, while cutting the budget for the Centers for Disease Control and Prevention's Office of Public Health Genomics by 90 per cent.

Of course it would be nice if we could afford both, but in reality there's a growing risk that "me" will edge out "we". If it does, it won't be because the science is better or the outcomes more beneficial. In some instances of Me Medicine, clinical outcomes are worse than the We equivalent. For example, according to the UK's Royal College of Obstetricians and Gynaecologists, private umbilical cord blood banks, which ostensibly provide a personal "spare parts kit" for the baby, produce poorer outcomes than public cord blood banking.

It is true that in some areas of Me Medicine, such as genetically individualised drug regimes for cancer care (technically known as pharmacogenetics), there has been genuine progress. For example, vemurafenib, a drug for aggressive melanoma, was reported in a 2012 New England Journal of Medicine article to extend the lifespan of 1 in 4 patients by seven months if they carry a specific genetic mutation in their cancer.

But only about half of those with the "right" type of tumour responded, and the mutation in question only occurs in about half of such melanomas. What is more, pharmaceutical firms will probably charge more for such drugs than for mass-market ones. They will be expensive, may benefit only a subset of the population and could leave cash-strapped state healthcare systems facing difficult decisions about where to allocate resources.

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Why personalised medicine is bad for us all

Seattle Cannabis Cup – Cheese Quake from TGA Genetics – Video


Seattle Cannabis Cup - Cheese Quake from TGA Genetics
We meet Darren and Guy.. then try some Cheese Quake from TGA Genetics.

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Seattle Cannabis Cup - Cheese Quake from TGA Genetics - Video

Creator // Top Choice Genetics – Video


Creator // Top Choice Genetics
Creator Sire: Creature Dam: Husky Breeders: Lorenzen.

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Creator // Top Choice Genetics - Video

Spore: Derping Around With Dark Genetics – Video


Spore: Derping Around With Dark Genetics
First video of the upcoming mod "Dark Genetics" by me 😀 this is showing off vocalswap integration and the mouth parts as details.

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Spore – Dark Genetics Mod, Second look. – Video


Spore - Dark Genetics Mod, Second look.
A cool creature and showing off test drive anims.

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Spore - Dark Genetics Mod, Second look. - Video

Atossa Genetics Co-Sponsors Los Angeles Premiere of Decoding Annie Parker, Starring Helen Hunt

LOS ANGELES, CA--(Marketwired - Sep 16, 2013) - Seattle-based Atossa Genetics, Inc. (NASDAQ: ATOS), The Breast Health Company, today announced its sponsorship of the Los Angeles premiere of Decoding Annie Parker, a new film starring Helen Hunt, tomorrow, September 17, 2013, at the Directors Guild of America, 7920 Sunset Blvd., Los Angeles, CA.Atossa has created the ForeCYTE Breast Health test -- available now -- which non-invasively and painlessly determines the presence of precancerous cells and assesses a women's future risk of breast cancer.

Dr. Steven Quay, Chairman, CEO & President of Atossa Genetics, stated, "Atossa Genetics is singularly focused on assessing breast cancer risk with our ForeCYTE Breast Health Test -- launched in January and available throughout the United States -- and preventing breast cancer by developing and commercializing an investigative intraductal therapy approach to treat pre-cancerous abnormalities, including ductal carcinoma in situ.

"Recent news stories about the increasing number of women with BRCA1 gene mutations having prophylactic bilateral mastectomy to reduce the risk of breast cancer have thrust the entire area of breast cancer risk assessment and prevention to the fore. We believe that our ForeCYTE Breast Health Test, which analyzes cells from the linings of the milk ducts where approximately 95 percent of breast cancers arise, provides women and their doctors with crucial information upon which to make more informed treatment decisions. For all those women who are concerned about their risk of breast cancer or who may be considering preventive bilateral mastectomy, we believe our test provides crucial information that will have a direct bearing on the decision making process," Dr. Quay added.

Decoding Annie Parker, directed by Steven Bernstein, honors the lives of two inspirational women impacted by breast cancer: Dr. Marie-Claire King, a geneticist at the University of Washington, who defied medical convention by looking for and finding the BRCA1 gene, now known to cause breast cancer, and Ann Parker, who struggles with breast cancer on more intimate terms after being diagnosed with breast cancer herself and having had to watch both her mother and sister succumb to the disease. The film stars Helen Hunt, who gives yet another inspiring performance in the role of Dr. King in her singular quest for the breast cancer gene.

"I am very excited about the potential of Atossa's ForeCYTE Breast Health Test to help prevent breast cancer so that fewer women will receive a devastating diagnosis or have to endure months or years of treatment," stated Steven Bernstein, Director of Decoding Annie Parker. "I am pleased to support Atossa Genetics in its quest to prevent breast cancer by producing a 90-second commercial on the ForeCYTE test, which will be shown tomorrow for the first time at the Los Angeles premier of Decoding Annie Parker."

Additional information about Decoding Annie Parker is available at http://www.decodingannieparkerfilm.com/.

Atossa Genetics is proud to co-sponsor Decoding Annie Parker and to support the efforts of Dr. King's lab at the University of Washington and its mission to further understand the role of genetics of breast cancer.

About the ForeCYTE Breast Health Test

The ForeCYTE Breast Health Test, intended for the 110 million women in the U.S. ages 18 to 73, is a painless, quick and non-invasive procedure that can be done in a physician's office.The test specimens are then analyzed at Atossa's laboratory, The National Reference Laboratory for Breast Health, Inc. (NRLBH), which can provide vital early detection of cancer or pre-cancerous conditions that may progress to cancer over an approximately eight year period and before cancer can be detected by mammography or other means and without the risks of radiation, especially in women younger than age 50. No invasive biopsy needles or open surgical incisions are used in the Atossa test.

Just as the Pap smear has reduced cervical cancer rates by over 70 percent, becoming the most successful screening test in medicine, the goal of Atossa Genetics is to reduce the stubbornly high rate of breast cancer through the early detection of the precursor changes that can lead to breast cancer and the treatment of those early changes. For more information, please visit getforecyte.com.

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Atossa Genetics Co-Sponsors Los Angeles Premiere of Decoding Annie Parker, Starring Helen Hunt

Medgenics Announces New Executive Leadership Team

MISGAV, Israel & SAN FRANCISCO--(BUSINESS WIRE)--

Medgenics, Inc. (NYSE MKT: MDGN and AIM: MEDU, MEDG), developer of a novel technology for the sustained production and delivery of therapeutic proteins in patients using their own tissue, announces the appointment of a new executive leadership team with the goal of accelerating the development of the companys gene therapy platform and maximizing the value of the companys technology assets. The new executives are Michael Cola, President and Chief Executive Officer, John Leaman, M.D., Chief Financial Officer, and Garry Neil, M.D., Global Head of Research and Development. In addition, on September 13, 2013, Mr. Cola joined the Medgenics Board of Directors.

Andrew L. Pearlman, Ph.D., the companys Founder and previously the companys President and Chief Executive Officer, has retired as of September 13, 2013 and is continuing to serve on the Board of Directors and as a senior advisor to the company.

This executive team will be based in the U.S. R&D and manufacturing will continue to operate in Misgav, Israel and U.S. manufacturing will continue to operate in San Francisco.

Mike Cola is a strategic, entrepreneurial and transformational business leader with a strong record in building shareholder value and broad experience in life science product development and portfolio management. Collectively, the new teams relevant experience and knowledge is impressive and will be integral to Medgenics continued success, said Sol J. Barer, Chairman of the Board of Medgenics. On behalf of the Board and the entire staff at Medgenics, I extend deepest gratitude to Andy Pearlman for his many contributions to our company. Andy has dedicated more than a decade to the development of the Biopump technology, and it is through his efforts and leadership that we have such a strong foundation.

Dr. Pearlman said, "I am pleased to hand over the reins to Mike, who has rightfully earned a position of high regard in the biopharmaceutical industry. Together with John Leaman and Garry Neil, this new executive leadership represents the ideal complement to the existing Medgenics team, and brings the expertise to optimize the clinical and commercial potential of our Biopump technology platform. I am proud and honored to continue as a Director for this outstanding and expanded team, and as an advisor to assist them. Medgenics future looks brighter than ever.

Mr. Cola was most recently President of Shire plcs Specialty Pharmaceuticals business, where he oversaw all aspects of this $2.5 billion enterprise. He joined Shire in 2005 as Executive Vice President of Global Therapeutic Business Units and Portfolio Management. Previously he was with Safeguard Scientifics, where he served as President of the Life Sciences Group. While at Safeguard Scientifics, Mr. Cola served as Chairman and CEO of Clarient, a cancer diagnostics company acquired by GE Healthcare, and as Chairman of Laureate Pharma, a full-service contract manufacturing organization serving research-based biologics companies. Prior to Safeguard Scientifics, Mr. Cola held senior positions in product development and commercialization at AstraMerck, a top 20 U.S. pharmaceutical company, and at AstraZeneca.

Mr. Cola received a BA in biology and physics from Ursinus College and an MS in biomedical science from Drexel University. He serves on the Board of Directors of Vanda Pharmaceuticals, NuPathe and Pennsylvania BIO, the statewide association representing the bioscience community. He also serves as Chairman of the Board of Governors of the Boys & Girls Clubs of Philadelphia.

"It is an honor to lead Medgenics at this exciting time in the companys development," stated Mr. Cola. "Our company is built upon a potential breakthrough technology in gene therapy and protein production that represents a safe and reversible approach that also shows promise to individually dose the production of therapeutic proteins. I am particularly pleased to have Garry and John joining me. Having worked with each of them in the past, I know they have the skills and leadership to advance our gene therapy and protein therapeutics technology and build a successful company. Following a thorough review of our assets and target markets, we look forward to rolling out our teams strategy and advancing Medgenics into what promises to be an exciting future."

Dr. Leaman brings to Medgenics more than a decade of corporate strategy, finance, venture capital and M&A experience in the life sciences industry. Most recently he was Vice President of Commercial Assessment at Shire plc, with responsibility for the strategic assessment of licensing and M&A opportunities, including Shires acquisition of SARcode Bioscience. Prior to joining Shire in 2011, Dr. Leaman was a Principal at Devon Park Bioventures, a venture capital fund targeting investments in therapeutics companies, where he oversaw the funds investment and corporate board duties in life science investments including Proteon Therapeutics, Inc., Inotek Pharmaceuticals Corp., ZS Pharma, Inc. and MicuRx Pharmaceuticals, Inc. Prior to that, he was an Associate Principal at McKinsey & Company, where he provided consulting services to senior management of several top 20 pharmaceutical companies including M&A and corporate finance, payer/reimbursement strategies and strategic product development.

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Medgenics Announces New Executive Leadership Team

Overexpression of cytoglobin gene increases neuronal hypoxic tolerance

Public release date: 16-Sep-2013 [ | E-mail | Share ]

Contact: Meng Zhao eic@nrren.org 86-138-049-98773 Neural Regeneration Research

Cytoglobin is a temporary oxygen reservoir, which might provide a minimal, but continuous supply of intracellular oxygen during ischemic and anoxic conditions. A research team from China Medical University was the first to use a plasmid carrying green fluorescent protein as the carrier to construct recombinant plasmids expressing cytoglobin by genetic engineering methods. Then, the recombinant plasmid was transfected into SH-SY5Y cells. Xiuling Yu and colleagues found that overexpression of cytoglobin could protect SH-SY5Y cells against cobalt chloride-induced hypoxia. The researchers investigate the neuroprotective ways from the perspective of in vitro genetic engineering, thereby providing reliable evidence for gene therapy of hypoxic-ischemic neurological diseases. The relevant findings were published in the Neural Regeneration Research (Vol. 8, No. 23, 2013).

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Article: " Overexpression of the cytoglobin gene inhibits hypoxic injury to SH-SY5Y neuroblastoma cells," by Xiuling Yu, Dianwen Gao (Department of Ophthalmology, Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning Province, China)

Yu XL, Gao DW. Overexpression of the cytoglobin gene inhibits hypoxic injury to SH-SY5Y neuroblastoma cells. Neural Regen Res. 2013;8(23):2198-2203.

Contact: Meng Zhao eic@nrren.org 86-138-049-98773 Neural Regeneration Research http://www.nrronline.org/

Full text: http://www.sjzsyj.org/CN/article/downloadArticleFile.do?attachType=PDF&id=692

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

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Overexpression of cytoglobin gene increases neuronal hypoxic tolerance

Aesthetica Clinic Dubai – Cell Therapy For Dark Circles – Al Arabiya – Video


Aesthetica Clinic Dubai - Cell Therapy For Dark Circles - Al Arabiya

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Stem Cell Therapy for Dogs – Video


Stem Cell Therapy for Dogs
Stem Cell Therapy for Dogs.

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Stem Cell Therapy for Dogs - Video

Stem-cell therapy puts local vet on cutting edge

RICHMOND When most people think of stem-cell therapy, they think of cutting-edge medicine human medicine, that is.

What many dont realize is that the technology can be, and is, applied to our four-legged friends as well.

Jim Martin, DVM, a veterinarian who owns and operates four area animal care facilities, including the Waco Animal Hospital, has been using stem-cell therapy to help dogs, mainly with mobility problems, such as arthritis, joint pain and tendon and ligament damage.

The therapy can provide canine patients with renewed energy and freedom of movement.

Martin, associates, and staff members, have been using the procedure on dogs for about a year, with considerable success.

In Kentucky the use of stem-cell therapy has been mainly for horses, Martin explained, but added it works on canines as well.

The procedure doesnt come cheap. Martin said the cost ranges from about $1,800 to $2,200. That includes pre-testing to determine if the dog is a good candidate for the procedure, along with surgical anesthetic and other services necessary to complete the procedure.

Because the stem cells that are injected come from the animals own body, the risk of rejection or reaction is minimal.

The procedures are done in Martins Advanced Animal Care in Richmond, Central Kentuckys only full-service 24-hour-a-day animal hospital. He said a portion of that facility is dedicated to a care center, which treats animals with chronic conditions using not only stem-cell therapy, but also joint injections, laser therapy and even acupuncture.

The facility was the first in the area to offer stem-cell therapy, and Martin said it is the only one he knows of that offers the complete procedure, from the extraction of the stem cells to their implantation.

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Stem-cell therapy puts local vet on cutting edge

Rare Gene Mutations Found To Heighten Risk Of Autism

Three teams of scientists have for the first time homed in on several gene mutations they say sharply increase the chances that a child will develop autism.

The findings offer further evidence that the risk increases with the age of the parents, particularly the father.

The gene mutations are extremely rare and together account for a tiny fraction of autism cases, suggesting the disease may represent a broad category of related but biologically distinct conditions.

There are likely hundreds, perhaps thousands, of rare mutations that could disrupt brain development enough to result in social and developmental delays.

But experts said the overlapping results reported in three papers posted online Wednesday in the journal Nature give scientists working on the genetics of autism something they have not had: a clear strategy for building a real understanding of the disease's biological basis.

Researchers hope to find more similar, rare mutations in the next year or so that they estimate could account for 10 percent to 20 percent of all cases.

Biologists have looked in vain for a reliable, verifiable foothold from which to investigate the underlying genetics of so-called autism spectrum disorders. Those include Asperger's syndrome and related social difficulties that are being diagnosed at alarmingly high rates on average, in one of 88 children, according to a government estimate released last week.

Previous studies produced a scattering of gene findings but little consensus or confidence in how to proceed. The new work provides a measure of both, as well as strong backing for earlier studies linking autism to the age of new fathers.

Jonathan Sebat, a geneticist at the University of California, San Diego, saw the work as a turning point: We now have a reliable way forward, and I think it's fair to expect that we will find 20, 30, maybe more such mutations in the next year.

Other researchers were more cautious, saying the genetics of rare mutations was not yet well enough understood to make conclusive statements about their effect on the behavior of specific genes.

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Rare Gene Mutations Found To Heighten Risk Of Autism

A Conversation with Sydney Brenner – Video


A Conversation with Sydney Brenner
Sydney Brenner, Senior Distinguished Fellow of the Crick-Jacobs Center at the Salk Institute, talks about his life and career with Aravinda Chakravarti, Dire...

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'Wildly heterogeneous genes'

Public release date: 15-Sep-2013 [ | E-mail | Share ]

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego

Cancer tumors almost never share the exact same genetic mutations, a fact that has confounded scientific efforts to better categorize cancer types and develop more targeted, effective treatments.

In a paper published in the September 15 advanced online edition of Nature Methods, researchers at the University of California, San Diego propose a new approach called network-based stratification (NBS), which identifies cancer subtypes not by the singular mutations of individual patients, but by how those mutations affect shared genetic networks or systems.

"Subtyping is the most basic step toward the goal of personalized medicine," said principal investigator Trey Ideker, PhD, division chief of genetics in the UC San Diego School of Medicine and a professor in the departments of Medicine and Bioengineering at UC San Diego. "Based on patient data, patients are placed into subtypes with associated treatments. For example, one subtype of cancer is known to respond well to drug A, but not drug B. Without subtyping, every patient looks the same by definition, and you have no idea how to treat them differently."

Recent advances in knowledge and technology have made it easier (and less expensive) to sequence individual genomes, especially in the treatment of cancer, which is fundamentally a disease of genes.

But genes are "wildly heterogeneous," said Ideker. It is in combination, influenced by other factors, that mutated genes cause diseases like cancer. Every patient's cancer is genetically unique, which can affect the efficacy and outcomes of clinical treatment.

"When you look at patients' data at the level of genes, everybody looks different," said Ideker. "But when you look at impacted biological networks and systems, groupings do appear. No genes are mutated in exactly the same place, but the mutations do appear in the same genetic pathways."

Specifically, the scientists looked at somatic mutations present in tumors but not healthy tissues in data from lung, uterine and ovarian cancer patients compiled by The Cancer Genome Atlas, an on-going National Institutes of Health-funded program to gather and catalogue the genomes of thousands of cancer patients.

Ideker said the NBS approach has immediate clinical value. Genome sequencing of cancer patients is rapidly becoming a standard part of diagnosis. Clinicians can use NBS, he said, to better match treatment to cancer subtype. And by chronicling treatment outcomes, funneling those results back into the database, they can further refine and improve cancer therapies, making them as personalized as the individuals themselves.

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'Wildly heterogeneous genes'

UC Davis hopes to become genomics leader with new testing center

The University of California, Davis three-year effort to establish itself and the Sacramento region as a hub for genetic testing on the West Coast took a step forward last week with the opening of universitys new genomic testing facility in Sacramento.

Once its fully operational, the center is expected to conduct high-level genetic sequencing to advance the universitys research in the realms of medicine and agricultural science.

A genome is a collection of all the genes in an organism. The human genome, for example, has about three billion genetic characters. In genetic sequencing, a genetic sample is tested to determine an organisms DNA sequence. Knowing this helps researchers identify genetic mutations, which in some cases cause cancer.

UC Davis new genetic testing facility, housed at the UC Davis Medical Center in Sacramento, is opening in partnership with BGI, a Chinese company founded in 1999 that is now the largest genomic sequencing firm in the world. The opening of the center coincided with Sacramento hosting the International Conference on Genomics in the Americas, which ended Friday and drew 45 genomics experts to the California capital.

Within a month, a staff of 30 will be doing genetic testing at the facility in the medical centers UC Davis Institute of Regenerative Cures building, said Harris Lewin, vice chancellor of research at UC Davis. Most of those workers will from China.

But, within the year the genomics center will employ roughly 200, and is expected to drive genomics testing business to the region, Lewin said. What were going to have here with this facility is one of the largest genome sequencing facilities in the state ... and in the span of a few months I believe we could be among the top 10 sequencing facilities in the world, he said.

Presently, only three such centers exist in the U.S., one at Washington University in St. Louis, Mo., another at Baylor University in Texas and the third the Broad Institute at Massachusetts Institute of Technology, Lewin said.

Under the collaboration between UC Davis and BGI, the company will pay rent to the university for use of the building space. In turn, the university will get discounted rates for whatever sequencing projects it does on BGIs expensive and technologically advanced machines.

Getting the building ready for the new center demanded an $8 million dollar investment from UC Davis. BGI has invested $10 million in sequencing equipment, Lewin said.

The sequencing prowess of the new center will vastly outpace what can be done presently at the universitys existing genomic center, officials said.

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UC Davis hopes to become genomics leader with new testing center

'Wildly heterogeneous genes: New approach subtypes cancers by shared genetic effects; a step toward personalized …

Sep. 15, 2013 Cancer tumors almost never share the exact same genetic mutations, a fact that has confounded scientific efforts to better categorize cancer types and develop more targeted, effective treatments.

In a paper published in the September 15 advanced online edition of Nature Methods, researchers at the University of California, San Diego propose a new approach called network-based stratification (NBS), which identifies cancer subtypes not by the singular mutations of individual patients, but by how those mutations affect shared genetic networks or systems.

"Subtyping is the most basic step toward the goal of personalized medicine," said principal investigator Trey Ideker, PhD, division chief of genetics in the UC San Diego School of Medicine and a professor in the departments of Medicine and Bioengineering at UC San Diego. "Based on patient data, patients are placed into subtypes with associated treatments. For example, one subtype of cancer is known to respond well to drug A, but not drug B. Without subtyping, every patient looks the same by definition, and you have no idea how to treat them differently."

Recent advances in knowledge and technology have made it easier (and less expensive) to sequence individual genomes, especially in the treatment of cancer, which is fundamentally a disease of genes.

But genes are "wildly heterogeneous," said Ideker. It is in combination, influenced by other factors, that mutated genes cause diseases like cancer. Every patient's cancer is genetically unique, which can affect the efficacy and outcomes of clinical treatment.

"When you look at patients' data at the level of genes, everybody looks different," said Ideker. "But when you look at impacted biological networks and systems, groupings do appear. No genes are mutated in exactly the same place, but the mutations do appear in the same genetic pathways."

Specifically, the scientists looked at somatic mutations -- present in tumors but not healthy tissues -- in data from lung, uterine and ovarian cancer patients compiled by The Cancer Genome Atlas, an on-going National Institutes of Health-funded program to gather and catalogue the genomes of thousands of cancer patients.

Ideker said the NBS approach has immediate clinical value. Genome sequencing of cancer patients is rapidly becoming a standard part of diagnosis. Clinicians can use NBS, he said, to better match treatment to cancer subtype. And by chronicling treatment outcomes, funneling those results back into the database, they can further refine and improve cancer therapies, making them as personalized as the individuals themselves.

Co-authors are Matan Hofree, Department of Computer Science and Engineering, UCSD; John P. Shen and Hannah Carter, Department of Medicine, UCSD; and Andrew Gross, Department of Bioengineering, UCSD.

Funding for this research came, in part, from National Institutes of Health grants P41 GM103504 and P50 GM085764.

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'Wildly heterogeneous genes: New approach subtypes cancers by shared genetic effects; a step toward personalized ...

Functional genetic variation in humans: Comprehensive map published

Public release date: 15-Sep-2013 [ | E-mail | Share ]

Contact: Emmanouil Dermitzakis emmanouil.dermitzakis@unige.ch 41-788-827-922 Universit de Genve

European scientists, led by researchers from the University of Geneva (UNIGE)'s Faculty of Medicine in the context of the GEUVADIS project, today present a map that points to the genetic causes of differences between people. The study, published in Nature and Nature Biotechnology, offers the largest-ever dataset linking human genomes to gene activity at the level of RNA.

Understanding how each person's unique genome makes them more or less susceptible to disease is one of the biggest challenges in science today. Geneticists study how different genetic profiles affect how certain genes are turned on or off in different people, which could be the cause of a number of genetic disorders.

Largest-ever human RNA sequencing study

Today's study, conducted by over 50 scientists from nine European institutes, measured gene activity (i.e. gene expression) by sequencing RNA in human cells from 462 individuals, whose full genome sequences had already been published as part of the 1000 Genomes Project. This study adds a functional interpretation to the most important catalogue of human genomes.

'The richness of genetic variation that affects the regulation of most of our genes surprised us,' says study coordinator Tuuli Lappalainen, previously at UNIGE and now at Stanford University. 'It is important that we figure out the general laws of how the human genome works, rather than just delving into individual genes.' The biological discovery was enabled by a staggering amount of RNA data from multiple human populations. 'We have set new standards for production, analysis and dissemination of large RNA-sequencing datasets,' adds Peter 't Hoen from Leiden University Medical Center, who coordinated technical analysis of the data.

A boost for personalised medicine

Knowing which genetic variants are responsible for differences in gene activity among individuals can give powerful clues for diagnosis, prognosis and intervention of different diseases. Senior author Emmanouil Dermitzakis, Louis Jeantet Professor at UNIGE, who led the study, emphasises that today's study has profound implications for genomic medicine.

'Understanding the cellular effects of disease-predisposing variants helps us understand causal mechanisms of disease,' professor Dermitzakis points out. 'This is essential for developing treatments in the future.'

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Functional genetic variation in humans: Comprehensive map published

Super genetics for a strong future. – Video


Super genetics for a strong future.
This is WW Prince William (Willie), a Miniature Hereford we purchased from Double W Ranch. Willie has done very good in the show ring and his sire. KAP Silve...

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Super genetics for a strong future. - Video

Let’s Play The Sims 3 – Perfect Genetics Challenge – Episode 27 – Video


Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 27
My Sims 3 Page: http://mypage.thesims3.com/mypage/Llandros2012 My Blog: http://Llandros09.blogspot.com My Facebook: https://www.facebook.com/Llandros09?ref=t...

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Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 27 - Video

Muscle building and genetics w/ a shoutout to the HODGETWINS! – strong2stronger – Video


Muscle building and genetics w/ a shoutout to the HODGETWINS! - strong2stronger
Muscle building and genetics with a shoutout to the hodgetwins: Article about myostatin deficiencies with pictures of Belgian blues, Wendy the whippet and Li...

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MSc Module Medical Genetics – Video


MSc Module Medical Genetics
A brief introduction from module lead Dr Lucy Side to the MSc module Medical Genetics, part of the MSc Prenatal Genetics and Fetal Medicine at the Institute ...

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MSc Module Medical Genetics - Video

First Human Application of SDF1 Gene Therapy to promote healing of open heart surgery. – Video


First Human Application of SDF1 Gene Therapy to promote healing of open heart surgery.
September 12, 2012 Stewart Manning was the first person in the world to receive SDF1 Gene Therapy. It was used to promote healing after Dr. Amit Patel MD, MS...

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First Human Application of SDF1 Gene Therapy to promote healing of open heart surgery. - Video

SDF-1 Gene Therapy explained by Dr Amit Patel MD, MS – Video


SDF-1 Gene Therapy explained by Dr Amit Patel MD, MS
The stromal cell-derived factor 1 (SDF-1) also known as C-X-C motif chemokine 12 (CXCL12) is a chemokine protein that in humans is encoded by the CXCL12 gene.

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SDF-1 Gene Therapy explained by Dr Amit Patel MD, MS - Video

Gene networks predict cancer prognosis

LA JOLLA Better cancer treatments can be found by studying the genetic networks they involve, according to a study published Sunday by UC San Diego researchers.

While individual cancer patients vary greatly in the precise mutations that drive tumors, they can be grouped into similar genetic networks that mesh with response to therapy, stated the study, published in Nature Methods. Its first author is Trey Ideker, division chief of genetics in the UCSD School of Medicine. The first author is Matan Hofree, of UCSD's department of computer science and engineering.

The authors call this approach "network-based stratification," or NBS. It groups patients together who have mutations in similar networks, matching them with outcomes. The study examined ovarian, uterine and lung cancers in The Cancer Genome Atlas.

"It is widely appreciated that cancer is a disease not of individual mutations, nor of genes, but of combinations of genes acting in molecular networks corresponding to hallmark processes such as cell proliferation and apoptosis," the study stated.

The study reported what it called a "particularly promising finding" in subtype1 of ovarian cancer. In that type, a pathway called FGF was especially prominent. The pathway is known for tumor growth and angiogenesis, and inhibitors are in clinical trials.

"Specifically, it has been shown that increased expression of FGF1 is associated with poor survival in ovarian cancer, and inhibition of FGFR1 and FGFR2 increases sensitivity to cisplatin in ovarian cancer cell lines," the study stated. "An intriguing question for future work is whether subtype 1 patients are particularly responsive to therapy directed at network-identified targets, such as treatment with inhibitors of FGFR1."

Sequencing the genomes of individual cancers has only recently become practical. The cost of genome sequencing has greatly declined due to technological advances by sequencing companies such as Life Technologies and Illumina. So the genomes of individual tumors can be matched against what's already known. When that's done, it becomes evident that cancers tend to follow certain recognizable pathways, regardless of which specific mutations are involved.

"Using this knowledge, we were able to cluster somatic mutation profiles into robust tumor subtypes that are biologically informative and have a strong association to clinical outcomes such as patient survival time and emergence of drug resistance," the study stated.

A 2012 presentation on the work presented at a symposium of The Cancer Genome Atlas is available online in PDF.

The study is titled, "Network-based stratification of tumor mutations." It was funded by grants from the National Institutes of Health.

Excerpt from:
Gene networks predict cancer prognosis

Aesthetica Clinic Dubai – Cell Therapy For Dark Circles – Dubai TV – Video


Aesthetica Clinic Dubai - Cell Therapy For Dark Circles - Dubai TV

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Aesthetica Clinic Dubai - Cell Therapy For Dark Circles - Dubai TV - Video

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