Archive for the ‘Gene Therapy Research’ Category

AMEND Patient Information Day 2013 - Dr Louise Izatt - Genetics Department Role in Talking with Kids
Dr Louise Izatt (Guy #39;s St Thomas #39;s, London) provides an insight into the work of the Genetics Department in relation to multiple endocrine neoplasia and he...

By: Jo Grey

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AMEND Patient Information Day 2013 - Dr Louise Izatt - Genetics Department Role in Talking with Kids - Video

Wah, Wah, Wah: You Have Better Genetics - BBOD #196
Wah, Wah, Wah: You Have Better Genetics - BBOD #196 Need help? Ask me questions here... http://bit.ly/X9cJjR.

By: BeardedBeastofDuloc

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Wah, Wah, Wah: You Have Better Genetics - BBOD #196 - Video

Alta Genetics Artificial Insemination Instructional Video
Learn about reproductive anatomy, breeding, heat detection and semen handling techniques, AI Equipment and Key Performance Indicators for reproduction.

By: Alta Genetics

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Alta Genetics Artificial Insemination Instructional Video - Video

5) Indicador de Eficiencia Reproductivo

By: Alta Genetics

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5) Indicador de Eficiencia Reproductivo - Video

Cuffin Like A Russian (OFFICIAL) - Dj FarrOut - Team Irish Yardies
Cuffin Like A Russian (OFFICIAL) - Dj FarrOut - Team Irish Yardies FOLLOW MI GENERAL...@GENERAL_KOJAK AND @TEAMIRISHYARDIE , @YOUNG_OISIN , @DJFARROUT PON TW...

By: MCThornCity

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Cuffin Like A Russian (OFFICIAL) - Dj FarrOut - Team Irish Yardies - Video

CHICAGO--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) today highlighted ongoing clinical development programs for ADCETRIS (brentuximab vedotin) in frontline Hodgkin lymphoma (HL) and mature T-cell lymphoma (MTCL) and progress with collaborator antibody-drug conjugate (ADC) programs that were presented at the 49th Annual Meeting of the American Society of Clinical Oncology being held May 31 June 4, 2013, in Chicago, IL. The phase 3 clinical trials, called ECHELON-1 and ECHELON-2, are evaluating ADCETRIS for the frontline treatment of HL and MTCL, including patients with systemic anaplastic large cell lymphoma (sALCL) and other types of peripheral T-cell lymphoma. ADCETRIS is an ADC directed to CD30, a defining marker of HL and sALCL, which was granted accelerated approval by the FDA in August 2011 for relapsed HL and relapsed sALCL. In addition, encouraging phase 1 data were presented from two ADC clinical programs being developed by Genentech, a member of the Roche Group (RO.SW) (SWX:ROG)(RHHBY), using Seattle Genetics technology.

ADCs represent an innovative and growing field in the fight against cancer, which is evident by the interest in this therapeutic approach at the ASCO annual meeting, said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. As the first ADC to be approved by the FDA in this new class, we are focused on broadening the evaluation of ADCETRIS in earlier lines of therapy with our ongoing ECHELON-1 and ECHELON-2 global phase 3 trials, which are designed to redefine the standard of care for frontline treatment of HL and MTCL. While we advance our internal programs, our collaborators are making important progress utilizing our ADC technology. Notably, Genentech is presenting encouraging phase 1 data for two ADC candidates in solid tumor settings.

Seattle Genetics is the leader in developing ADCs, a technology designed to harness the targeting ability of antibodies to deliver cell-killing agents directly to cancer cells. Of the approximately 30 ADC candidates currently in development, more than half utilize Seattle Genetics proprietary ADC technology.

Phase III Trial of Brentuximab Vedotin Plus Doxorubicin, Vinblastine, and Dacarbazine (A+AVD) Versus Doxorubicin, Bleomycin, Vinblastine, and Dacarbazine (ABVD) as Front-line Treatment for Advanced Classical Hodgkin Lymphoma (HL) (Abstract #TPS8612)

Recent phase 1 data presented at the 2012 American Society of Hematology (ASH) Annual Meeting demonstrated that A+AVD, which removes bleomycin from the standard frontline ABVD regimen, was associated with a manageable safety profile and a complete remission (CR) rate of 96 percent in the treatment of newly diagnosed HL patients. A global phase 3 study, called ECHELON-1, is an ongoing open-label, randomized, multi-center trial designed to investigate A+AVD versus ABVD as frontline therapy in patients with advanced classical HL. The primary endpoint is modified progression free survival (mPFS) per independent review facility assessment using the Revised Response Criteria for malignant lymphoma (Cheson, 2007). Secondary endpoints include overall survival (OS), CR rate and safety. The trial is being conducted in North America, Europe, Latin America and Asia. The study will enroll approximately 1,040 eligible patients (approximately 520 patients per treatment arm) who have histologically-confirmed diagnosis of Stage III or IV classical HL and who have not been previously treated with systemic chemotherapy or radiotherapy.

Phase III Trial of Brentuximab Vedotin and CHP Versus CHOP in the Frontline Treatment of Patients with CD30+ Mature T-Cell Lymphomas (MTCL) (Abstract #TPS8611)

Recent phase 1 data presented at the 2012 ASH Annual Meeting demonstrated that ADCETRIS in combination with cyclophosphamide, doxorubicin and prednisone (A+CHP) in the frontline treatment of MTCL was associated with a manageable safety profile and 100 percent objective response rate, including 88 percent CRs. A global phase 3 study, called ECHELON-2, is an ongoing randomized, double-blind, placebo-controlled, multi-center trial designed to investigate A+CHP versus cyclophosphamide, doxorubicin, vincristine and prednisone (CHOP) as frontline therapy in patients with CD30-expressing MTCL. Approximately 300 patients (approximately 150 patients per treatment arm) will be randomized to receive A+CHP or CHOP for six to eight cycles every three weeks. The primary endpoint is progression-free survival (PFS) per independent review facility assessment using the Revised Response Criteria for malignant lymphoma. Secondary endpoints include OS, CR rate and safety. The trial is being conducted in North America, Europe and Asia.

ADCETRIS is currently not approved for frontline treatment of HL and MTCL. For more information about ECHELON-1 and ECHELON-2, visit http://www.clinicaltrials.gov.

A Phase I Study of the Safety and Pharmacokinetics of DNIB0600A, an Anti-Napi2b-vc-MMAE Drug Conjugate, in Patients with Non-Small Cell Lung Cancer (NSCLC) and Platinum-Resistant Ovarian Cancer (OC) (Abstract #2507)

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Seattle Genetics Highlights ADCETRIS® (Brentuximab Vedotin) Frontline HL and MTCL Clinical Development Programs and ...

American Fire Culture: Needs Gene Therapy
Dr. Burton A. Clark, EFO April 2013.

By: Tucker Palmatier

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American Fire Culture: Needs Gene Therapy - Video

Non-Viral Gene Therapy

By: Scott Swing

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Non-Viral Gene Therapy - Video

Gene Therapy and DNA Probes - A-Level (A2) Biology Revision
Gene Therapy and DNA Probes. A2 Biology. OCR Exam Board. Unit 5.2.3. F215. The "You need to know..." section has come from the OCR specification.

By: ocrbiologya2

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Gene Therapy and DNA Probes - A-Level (A2) Biology Revision - Video

Anti-doping experts reported progress Thursday in the search for a reliable test for gene doping, although they still don't know when it will be ready for use in competition.

IOC medical commission chairman Arne Ljungqvist said a test would be put into use at the Olympics and other events as soon as a method is proven reliable regardless of whether hard evidence exists that athletes are manipulating their genes to improve performance.

No such evidence exists so far, although the World Anti-Doping Agency has received information that "there is an interest out there in certain circles," particularly among coaches and other members of athletes' entourages, Ljungqvist said.

"We will certainly as soon as we have a reliable method available make use of it for the purpose of identifying whether there is something going on based on strategic information," the Swedish official said.

"I would really estimate that people realize that it's probably a bit risky today, perhaps very risky if they should jump to misuse. But there seems to be mental readiness to take it on once it is available in some sort of safe way," he said.

With tests now able to reliably detect more conventional forms of doping, gene doping is considered the potential future of cheating in sports. While it offers the potential for enhancing muscle growth and increasing strength and endurance, gene doping also carries potential risks such as serious genetic damage, including cancer.

Regulating gene and cell doping is especially complicated because the line between their use as treatment for muscle diseases and misuse for performance enhancement is blurred, said Ljungqvist, who is also a WADA vice president and chairman of its health, medical and research committee.

Signs of gene doping are also varied and subtle and can be easily confused with physiological changes resulting from diet or simple illness, said Theodore Friedmann, chairman of WADA's gene doping panel.

Still, he said experts were "cautiously optimistic, that we are making progress, and that will help sport and will help future athletes do what they do best, and that is compete in the clean world."

"So that's why I feel optimistic that we are being proactive at this stage, not reactive," Friedmann said, adding that testing remained at the laboratory stage at present.

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Gene doping test for athletes in the works

Anti-doping experts reported progress in the search for a reliable test for gene doping, although they still don't know when it will be ready for use in competition.

IOC medical commission chairman Arne Ljungqvist said a test would be put into use at the Olympics and other events as soon as a method is proven reliable - regardless of whether hard evidence exists that athletes are manipulating their genes to improve performance.

No such evidence exists so far, although the World Anti-Doping Agency has received information that "there is an interest out there in certain circles," particularly among coaches and other members of athletes' entourages, Ljungqvist said.

"We will certainly as soon as we have a reliable method available make use of it for the purpose of identifying whether there is something going on based on strategic information," the Swedish official said.

"I would really estimate that people realize that it's probably a bit risky today, perhaps very risky if they should jump to misuse. But there seems to be mental readiness to take it on once it is available in some sort of safe way," he said.

With tests now able to reliably detect more conventional forms of doping, gene doping is considered the potential future of cheating in sports. While it offers the potential for enhancing muscle growth and increasing strength and endurance, gene doping also carries potential risks such as serious genetic damage, including cancer.

Regulating gene and cell doping is especially complicated because the line between their use as treatment for muscle diseases and misuse for performance enhancement is blurred, said Ljungqvist, who is also a WADA vice president and chairman of its health, medical and research committee.

Signs of gene doping are also varied and subtle and can be easily confused with physiological changes resulting from diet or simple illness, said Theodore Friedmann, chairman of WADA's gene doping panel.

Still, he said experts were "cautiously optimistic, that we are making progress, and that will help sport and will help future athletes do what they do best, and that is compete in the clean world."

"So that's why I feel optimistic that we are being proactive at this stage, not reactive," Friedmann said, adding that testing remained at the laboratory stage at present.

Original post:
Experts make progress on gene doping tests

SCIENTISTS have discovered one of the genes that cause a muscle disease so harmful newborn babies rarely survive more than a few days.

The West Australian Institute for Medical Research co-ordinated the worldwide research that discovered the gene KLHL40, which is now known to cause 20 per cent of cases within a particular type of nemaline myopathy.

Researchers identified 19 mutations in the gene, which affects muscle development and function.

Babies with the gene mutation suffered severe muscle weakness, allowing little movement within the womb, bone fractures, respiratory failure and swallowing difficulties at birth.

Professor Nigel Laing said he had been searching for the gene since 1996.

"Even 17 years ago, we felt this disease was a different level of severity of nemaline myopathy so it was likely to be a different group of muscle proteins involved," he said.

"After years of work, that has turned out to be the case."

Professor Laing said he expected prenatal and pre-implantation testing would begin soon.

The paper's lead author, Gina Ravenscroft, said the research began with a WA couple whose baby died after five days and a Turkish couple who lost three babies in a row.

Researchers expanded the study to DNA samples from families in Japan, Vietnam, France, Turkey, Italy, Israel and Sweden.

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Gene behind muscle disease in babies found

June 5, 2013 A gene linked to autism spectrum disorders that was manipulated in two lines of transgenic mice produced mature adults with irreversible deficits affecting either learning or social interaction.

The findings, published in the May 29 issue of the Journal of Neuroscience, have implications for potential gene therapies but they also suggest that there may be narrow windows of opportunity to be effective, says principal investigator Philip Washbourne, a professor of biology and member of the University of Oregon's Institute of Neuroscience.

The research, reported by an 11-member team from three universities, targeted the impacts of alterations in the gene neuroligin 1 -- one of many genes implicated in human autism spectrum disorders -- to neuronal synapses in the altered mice during postnatal development and as they entered adulthood. One group over-expressed the normal gene, the other a mutated version.

Mice with higher-than-normal levels of the normal gene after a month had skewed synapses at maturity. Many were larger, appearing more mature, than normal. In these mice, Washbourne said, there were clear cognitive problems. "Behavior was just not normal. They didn't learn very well, and they were slower to learn, but their social behavior was not impacted."

Mice over-producing a mutated version of the gene reached adulthood with structurally immature synapses. "They were held back in development and behavior -- the way they behave in terms of learning and memory, in terms of social interaction," he said. "These were adult mice, three months old, but they behaved like normal mice at four weeks old. We saw arrested development. Learning is a little bit better, they are more flexible just like young mice, they learn faster, but their social interaction is off. To us, this looked more like Asperger's syndrome.

"So with the same gene, doing two different manipulations -- overexpressing the normal form or overexpressing a mutated form -- we've gone to two different ends of the autism spectrum," said Washbourne, whose lab focuses on basic synapse formation and what goes wrong in relationship to autism. Work has been done in both mice and zebra fish.

"We made these mice so that we can turn the genes on and off as we want," Washbourne said. "Using an antibiotic, doxycycline, it turns off these altered genes that we inserted into their chromosomes. While on doxycycline, the mice are absolutely normal."

However, if the inserted gene was turned off after the completion of development, mice still showed altered synapses and behavior. This result suggests that any kind of gene therapy may have to be applied to individuals with autism early on.

Effects seen in the social behavior of mice with the mutated gene, he said, are not unlike observations reported by parents of many autistic children. While normal mice prefer to engage with new mice entering their world rather than familiar others, or even a new inanimate object, these mice split their time equally. "It's not a deficit in memory regarding which mouse is which, it's more a weighting of their interaction. Does that mean they are autistic? I don't know, but if you talk to parents of autistic children, one of the frustrating things they report is that their children treat complete strangers in exactly the same way that they treat them."

While the findings provide new insights, Washbourne said, any translation into treatment could be decades away. "A problem with autism is there are many different genes potentially involved. It could be that some day, if you are diagnosed with autism, a mouth swab might allow for the identification of the exact gene that is mutated and allow for targeted therapy," he said. "Genome sequencing already has turned up subtle mutations in lots of genes. Autism might be like cancer, with hundreds of potential combinations of faulty genes."

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Over-produced autism gene alters synapses, affects learning and behavior in mice

June 6, 2013 Through genetic engineering of laboratory models, researchers at Dartmouth-Hitchcock Norris Cotton Cancer Center have uncovered a vulnerability in the way cancer cells diverge from normal regenerating cells that may help treat children with leukemia as reported in the journal PNAS on June 3, 2013. Dartmouth researchers are trying to understand the key pathways that distinguish how a normal blood cell grows and divides compared to the altered growth that occurs in leukemia. In addition to the treatment of leukemia, the work has relevance for expanding umbilical cord blood or bone marrow stem cells for transplantation.

Leukemia often occurs due to chromosomal translocations, which are broken chromosomes that cause blood cells to grow uncontrollably. One gene that is involved in chromosomal translocations found at high frequency in childhood leukemia is the MLL1 (Mixed Lineage Leukemia 1) gene. Conventional chemotherapy is very ineffective at curing patients with this translocation, in contrast to other types of childhood leukemia, which are relatively curable.

Using genetic engineering, the researchers generated a mouse model to discover genes that are regulated by MLL1 in hematopoietic stem cells, the cells that give rise to all white and red blood cell types. In the course of these studies, they identified several unique properties of the normal MLL1 pathway in hematopoietic stem cells that may be exploited to better treat leukemia harboring MLL1 translocations.

"We discovered that many genes that depend upon the normal MLL1 protein are involved in maintaining hematopoietic stem cells, thus manipulating this pathway could be a way to expand cells from normal bone marrow or umbilical cord blood donors to improve transplantation of these cell types, which is a procedure used to treat certain chemotherapy-resistant cancers," said Patricia Ernst, PhD, co-director Cancer Mechanisms, Dartmouth-Hitchcock Norris Cotton Cancer Center, associate professor of Genetics and of Microbiology and Immunology at the Geisel School of Medicine at Dartmouth, Hanover, NH.

As principle investigator, Ernst and her team set out to discover the genetic pathways controlled by the normal form of the MLL1 protein and leukemogenic MLL1 fusion proteins specifically in hematopoietic stem cells (HSCs). Delineation of these pathways will facilitate research by her group and others aimed at developing strategies to kill leukemia cells without harming HSCs, which are often profoundly affected by current chemotherapeutic regimens. In performing this research, they also discovered a new molecular pathway that controls normal HSC biology.

"We demonstrate in this study, that some direct MLL1 target genes in HSCs are affected by Menin loss (a protein involved in the inherited disorder, Multiple Endocrine Neoplasia), and some are not," said Ernst. "This is a fundamentally important observation that demonstrates this category of chromatin modifiers utilizes different protein complexes/mechanisms to target different classes of genes in different cell types."

Ernst points out that this highly desirable outcome that would not have been predicted for this targeted therapy and may illustrate that drugs blocking the interaction of these two proteins (currently under development by other groups) leave normal hematopoiesis intact. She is working on follow-up studies of this finding.

Research funded by NIH HL090036 and RR16437 as well as additional grants from American Cancer Society, Gabrielle's Angel Foundation for Cancer Research, Lady Tata Memorial Trust, and the Lauri Strauss Leukemia Foundation.

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Normal molecular pathway affected in poor-prognosis childhood leukemia identified

Seventy medical, research and advocacy organizations active in 41 countries and including the National Institutes of Health announced Wednesday that they have agreed to create an organized way to share genetic and clinical information. Their aim is to put the vast and growing trove of data on genetic variations and health into databases -- with the consent of the study subjects -- that would be open to researchers and doctors all over the world, not just to those who created them.

Millions more people are expected to get their genes decoded in coming years, and the fear is that this avalanche of genetic and clinical data about people and how they respond to treatments will be hopelessly fragmented and impede the advance of medical science. This ambitious effort hopes to standardize the data and make them widely available.

"We are strong supporters of this global alliance," said Dr. Francis Collins, director of the National Institutes of Health. "There is lots of momentum now, and we really do want to move quickly."

David Haussler, professor of biomolecular engineering and director of the Center for Biomolecular Science and Engineering at UC Santa Cruz, is a member of the alliance's organizing committee. He said the alliance, now in the beginning stages of formation, is planning for a future in which genome sequencing will be widely used in clinical medicine, given the rapidly falling cost of sequencing.

"Understanding the role of

In just the past few years, the price of determining the sequence of genetic letters that make up human DNA has dropped a millionfold, said Dr. David Altshuler, deputy director and chief academic officer at the Broad Institute of Harvard and MIT. As a result, instead of having access to just a few human genomes -- the complete genetic material of a person, including genes and regions that control genes -- researchers can now study tens of thousands of them, along with clinical data on peoples' health and how they fared on various treatments.

In the next few years, Altshuler said, researchers expect that millions of people will have their genomes sequenced.

"The question is whether and how we make it possible to learn from these data as they grow, in a manner that respects the autonomy and privacy choices of each participant," Altshuler said. No one wants to put DNA sequences and clinical data on the Internet without the permission of patients, he said, so it also is important to allow people to decide if they want their data -- with no names or obvious identifiers attached -- to be available to researchers.

But there are no agreed-upon standards for representing genetic data or sharing them, experts say. And there are no common procedures for assuring that patients consent to sharing their information.

"Each institution has its own approach," Altshuler said.

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Accord, including UCSC, aims to create global trove of genetic data

Public release date: 5-Jun-2013 [ | E-mail | Share ]

Contact: Garth Sundem garth.sundem@ucdenver.edu University of Colorado Denver

A recent article in the New England Journal of Medicine describes genetic testing of a rare blood cancer called atypical chronic neutrophilic leukemia (CNL) that revealed a new mutation present in most patients with the disease. The mutation also serves as an Achilles heel, allowing doctors at the University of Colorado Cancer Center to prescribe a never-before-used, targeted treatment. The first patient treated describes his best snowboarding season ever.

"I'm a crazy sports fan," says the patient. "I go 30 days a season. I may be the oldest guy snowboarding on the mountain, but I'm not the slowest!"

When he lost a few pounds from what eventually proved to be undiagnosed cancer, the patient was initially pleased. "I was lighter and could snowboard better ride better, jump better," he says. Then he took a blood test and his white blood cell count was far in excess of the normal range. His doctor couldn't find a cause and so they watched and waited. A couple months later, another blood test showed his white count was even higher.

"That's when I decided to go to the University of Colorado Hospital," he says. There he met Daniel A. Pollyea, MD, MS, CU Cancer Center investigator, assistant professor and clinical director of Leukemia Services at the University of Colorado School of Medicine, and co-author of what would become the recent study in NEJM.

"Pollyea said my illness didn't fit into any major categories," the patient says. "I could see in his face that he'd run into something abnormal, something new. He was aggressive but didn't force his own opinion. I saw him reach out to every source he could find every other specialist he could get in contact with."

"He'd been sent from doctor to doctor being told incorrect information," Pollyea says. "By the time we saw him, his blood counts were going in a bad direction due to the progression of his leukemia."

Pollyea had worked on blood cancers since his fellowship training at Stanford University, and through his work there developed a relationship with researchers at the University of Oregon, which had an ongoing project in blood cancers that defied common classifications. Pollyea and his team took a sample from his patient and sent it to Oregon for testing, with the hopes that if they could identify a gene mutation causing this cancer, there might be a chance they could target the mutation with an existing drug.

Sure enough, sequencing showed a mutation in a gene that makes a protein called colony-stimulating factor 3 (CSF3R). Cells with this mutation have uncontrolled growth in the bone marrow, resulting in a leukemia.

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New disease-to-drug genetic matching puts snowboarder back on slopes

Public release date: 5-Jun-2013 [ | E-mail | Share ]

Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital

Boston, MA Reaching puberty at an unusually early age can have adverse effects on social behavior and psychological development, as well as physical effects, including short stature, and lifelong health risks, such as diabetes, breast cancer and heart disease. Researchers at Brigham and Women's Hospital (BWH), in a multi-institutional collaboration with Boston Children's Hospital, the Broad Institute, and the University of Sao Paulo, Brazil, have identified that a genetic mutation leads to a type of premature puberty, known as central precocious puberty. Central precocious puberty is defined by the development of secondary sexual characteristics before eight years in girls and nine years in boys.

The study appears online June 5, 2013 in The New England Journal of Medicine. The results will also be presented at The Endocrine Society's 95th Annual Meeting & Expo in San Francisco on June 17, 2013.

"These findings will open the door for a new understanding of what controls the timing of puberty," said Ursula Kaiser, MD, chief of the BWH Division of Endocrinology, Diabetes and Hypertension, co-senior study author. "It also will allow doctors to diagnose the cause of precocious puberty in a subset of patients, or to identify patients at risk for developing precocious puberty, especially if others in their family are affected. By better understanding the role of this gene in the timing of puberty, we may be able to gain insights into how other factors, such as environmental factors, may influence pubertal timing."

The researchers performed whole exome sequencing analysis of forty individuals from fifteen families with central precocious puberty. In five of the fifteen families, the researchers identified four mutations in the MKRN3 gene. The MKRN3 gene is responsible for coding a protein called makorin ring finger protein 3, which is thought to help tag other proteins for degradation. The genetic mutations resulted in truncated MKRN3 proteins and disruption of MKRN3 protein function. A mutation in the MKRN3 gene can lead to premature activation of reproductive hormones in the body, thereby initiating early puberty.

The researchers also found that all affected individuals inherited the mutations from their fathers. Moreover, the MKRN3 gene is located on the same chromosome as genes for Prader-Willi syndrome, a rare condition that results in short stature, incomplete sexual development, cognitive disabilities, insatiable appetite and severe obesity, among other abnormalities; although, despite being on the same chromosome, MKRN3 is not thought to contribute to the clinical features of Prader-Willi syndrome.

###

This research was supported by the National Institutes of Health (1F05HD072773-01, 1K23HD073351, U54HD28138, R21HD066495), CAPES 3806-11-1, Conselho Nacional de Desenvolvimento Cientfico e Tecnolgico (Brazil), and Fundao de Amparo Pesquisa do Estado de So Paulo.

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare. BWH has more than 3.5 million annual patient visits, is the largest birthing center in New England and employs more than 15,000 people. The Brigham's medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in patient care, quality improvement and patient safety initiatives, and its dedication to research, innovation, community engagement and educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), BWH is an international leader in basic, clinical and translational research on human diseases, involving nearly 1,000 physician-investigators and renowned biomedical scientists and faculty supported by nearly $625 million in funding. BWH continually pushes the boundaries of medicine, including building on its legacy in organ transplantation by performing the first face transplants in the U.S. in 2011. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies, OurGenes and the Women's Health Initiative. For more information and resources, please visit BWH's online newsroom.

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Genetic mutation inherited from father's side linked to early puberty

In the wake of her aunt's death due to cancer and her recent double mastectomy, Angelina Jolie is sure to generate more headlines after her first public appearance since her bombshell announcement.

Jolie's revelation that she underwent a preventive double mastectomy due to her high risk for developing both breast and ovarian cancer shone a spotlight on genetic testing for inherited diseases. What's not so clear is whether your health insurance company will cover all of the costs.

Mutations in the BRCA1 gene -- which Jolie carries -- and the BRCA2 gene elevate the risk of a woman developing breast and ovarian cancer.

According to FORCE, a nonprofit focused on those with inherited breast and ovarian cancers, a woman with a BRCA mutation faces a 55% to 85% of developing breast cancer, and a 10% to 60% risk for developing ovarian cancer.

In Jolie's case, she had an 87% risk of developing breast cancer and 50% risk of ovarian cancer, she wrote in an Op-Ed article, "My medical choice," for The New York Times.

While some health insurance companies clearly spell out the criteria they use for covering the cost of BRCA1 and BRCA2 testing, that isn't always the case, says Lisa Schlager, vice president of community affairs and public policy with FORCE.

One woman's journey

Maia Magder discovered the vagaries of health insurance companies when seeking BRCA testing. Her mother and maternal aunt both were diagnosed with breast cancer before the age of 40, her paternal aunt was diagnosed at age 41, and her maternal grandparents and her brother have had other forms of cancer. (See: "Guide to cancer insurance: 5 must-know facts.")

Magder is of Ashkenazi Jewish descent, which puts her at higher risk for carrying a BRCA1 or BRCA2 mutation.

Her insurer was willing to pay for genetic testing -- only if she tested positive for the mutation. She didn't pay out of pocket, but had to sign an agreement stating that if her insurer wouldn't pay, she'd cover the costs.

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Genetic Testing not Always Covered by Insurance

Genetics solution 4 part 3

By: priya1502

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Genetics solution 4 part 3 - Video

Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 15
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...

By: Llandros09

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Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 15 - Video

The Chat Show | Episode #2 - Do Genetics Play a Part?
Check out Episode 2 with Ryan Do genetics play a part? You can also visit http://www.ironmuscletv.com to read and watch loads more content from Ryan.

By: IronMuscleTV

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The Chat Show | Episode #2 - Do Genetics Play a Part? - Video

Genetics supplies
Supplies.

By: JillRonstadt

Originally posted here:
Genetics supplies - Video

BEIJING (AP) -- Anti-doping experts reported progress Thursday in the search for a reliable test for gene doping, although they still don't know when it will be ready for use in competition.

IOC medical commission chairman Arne Ljungqvist said a test would be put into use at the Olympics and other events as soon as a method is proven reliable - regardless of whether hard evidence shows athletes are manipulating their genes to improve performance.

No such evidence exists so far, although the World Anti-Doping Agency has received information that ''there is an interest out there in certain circles,'' particularly among coaches and other members of athletes' entourages, Ljungqvist said.

''We will certainly, as soon as we have a reliable method available, make use of it for the purpose of identifying whether there is something going on based on strategic information,'' the Swedish official said. ''I would really estimate that people realize that it's probably a bit risky today, perhaps very risky if they should jump to misuse. But there seems to be mental readiness to take it on once it is available in some sort of safe way.''

Gene doping, prohibited by the International Olympic Committee and WADA, is considered the potential future of cheating in sports. Current tests detect more conventional forms of doping.

Gene doping involves transferring genes directly into human cells to blend into an athlete's DNA. It is an illegal offshoot of gene therapy, which typically alters DNA to fight diseases such as muscular dystrophy and cystic fibrosis.

While it offers the potential for enhancing muscle growth and increasing strength and endurance, gene doping also carries potential risks such as serious genetic damage, including cancer.

Regulating gene and cell doping is especially complicated because the line between therapeutic treatment for muscle diseases and misuse for performance enhancement is blurred, said Ljungqvist, who is also a WADA vice president and chairman of its health, medical and research committee.

Signs of gene doping are also varied and subtle and can be easily confused with physiological changes resulting from diet or simple illness, said Theodore Friedmann, chairman of WADA's gene doping panel.

Still, he said experts were ''cautiously optimistic, that we are making progress, and that will help sport and will help future athletes do what they do best, and that is compete in the clean world. So that's why I feel optimistic that we are being proactive at this stage, not reactive.''

Read the original here:
Experts report progress on gene-doping test

June 6, 2013 A novel gene variant found in human and animal tissue may be a promising treatment for cancer, including breast and brain cancer, according to scientists from the Icahn School of Medicine at Mount Sinai. The variant, called PTEN-long, may contribute to a cell's healthy function and also suppress tumor cell development.

This landmark study is published in the June 6, 2013 issue of the journal Science.

Ramon Parsons, MD, PhD, Professor and Chair of Oncological Sciences led the team that discovered a mutation in the tumor suppressor gene PTEN, which has subsequently been recognized as the second most common mutation in cancer, especially in breast, prostate, and brain cancers. PTEN encodes a 403 amino acid lipid phosphatase protein that is critical to cellular growth, proliferation, and survival. Genetic inactivation of PTEN causes tumor development.

In the current study, Dr. Parsons and his team analyzed human cells and discovered a PTEN variant that has an additional protein sequence and is 43 percent longer than normal PTEN. They called this new variant PTEN-Long. Like PTEN, the long form has the same enzymatic activity, but unlike PTEN, it is secreted by the cell and can enter other cells, indicating that the added protein sequence acts as a delivery system for the tumor suppressor gene.

"This study culminates more than a decade of research that began soon after we learned the therapeutic potential of PTEN and the PI3K pathway," said Dr. Parsons. "We are excited about the potential of PTEN-Long as a therapy for multiple cancer types."

Using human breast and brain tumor cells that lacked PTEN and PTEN-Long, the research team introduced and overexpressed PTEN-Long and PTEN into the cells. They found that, similar to PTEN, PTEN-Long decreased the signaling activity on the PI3K pathway, thus reducing cellular proliferation. They also found that PTEN-Long was reduced in breast tumor tissue compared to healthy breast tissue.

To test the therapeutic potential of PTEN-Long, Dr. Parsons and his team injected mice with tumor cells, then administered PTEN-Long or a control preparation to the mice. For one of their tumor models, after five days of treatment, the tumors disappeared completely. The authors conclude that PTEN-Long alters signaling on the PI3K pathway to inhibit tumor growth and that its ability to enter other cells is critical to this process. As insulin operates on the PI3K pathway as well, the research team also noticed a brief increase in glucose concentration in the PTEN-Long treated mice.

"These findings indicate that PTEN-Long may contribute to cell homeostasis and suppression of cancer," said Dr. Parsons. "This gene variant has significant potential as a protein-based therapy to treat cancer, and may have implications in diseases such as diabetes."

Next, Dr. Parsons plans to study the normal functions of PTEN-Long, how tumors become resistant to it, what happens when it is missing, and how it can be used as a tool for therapy.

The work was funded by the NCI, The Octoberwoman Foundation, and the Avon Foundation.

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Gene variant may provide novel therapy for several cancer types

June 4, 2013 In a pair of distinct but complementary papers, researchers at the University of California, San Diego School of Medicine and colleagues illuminate the functional importance of a relatively new class of RNA molecules. The work, published online this week in the journal Nature, suggests modulation of enhancer-directed RNAs or eRNAs could provide a new way to alter gene expression in living cells, perhaps affecting the development or pathology of many diseases.

Enhancers are sequences in the genome that act to boost or enhance the activity or expression of nearby genes. They often behave in a cell-specific manner and play an important role in establishing a cell's identity and functional potential, said Christopher Glass, MD, PhD, a professor in the department of Medicine and Cellular and Molecular Medicine at UC San Diego and principal investigator of one of the papers.

Although enhancers have been recognized for more than 25 years, scientists have labored to fully flesh out the breadth and complexity of what enhancers do and how they do it. In 2010, it was discovered that enhancers directed expression of RNA on a broad scale in neurons and macrophages, a type of immune system cell. Dubbed eRNAs, they were different from other classes of nuclear non-coding RNAs, and raised new questions about their potential roles in the functions of enhancers. The two Nature papers attempt to answer some of these questions.

In the first, principal investigator Glass and colleagues investigated a pair of related transcriptional repressors called Rev-Erb-alpha and Rev-Erb-beta (proteins with important roles in regulating the circadian rhythm in many cell types) in mouse macrophages. Using genome-wide approaches, they found that the Rev-Erb proteins repressed gene expression in macrophages primarily by binding to enhancers. Collaboration with researchers at the Salk Institute for Biological Studies revealed that the repressive function of Rev-Erbs was highly correlated with their ability to repress the production of eRNAs.

In the second paper, principal investigator Michael G. Rosenfeld, MD, a professor in the UC San Diego Department of Medicine and Howard Hughes Medical Institute investigator, and colleagues looked at estrogen receptor binding in human breast cancer cells and its impact on enhancer transcription. In contrast to the repressive functions of Rev-Erbs, estrogen receptors (ERs) activate gene expression; but, like Rev-Erbs, they primarily function by also binding to enhancers. ER binding was shown to be associated with increases in enhancer-directed eRNAs in the vicinity of estrogen-induced genes, and to exert roles on activation of coding target genes.

Both papers offer new evidence that eRNAs significantly contribute to enhancer activity, and therefore to expression of nearby genes. Because many broadly expressed genes that play key roles in essential cellular functions are under the control of cell-specific enhancers, the ability to affect enhancer function by knocking down eRNAs could potentially provide a new strategy for altering gene expression in vivo in a cell-specific manner, said Glass, noting that in his research, anti-sense oligonucleotides were developed in conjunction with Isis Pharmaceuticals, which suppressed enhancer activity and reduced expression in nearby genes.

Co-authors of the Glass paper are Michael T. Y. Lam, Hanna P. Lesch, David Gosselin, Sven Heinz, Yumiko Tanaka-Oishi, Christopher Benner, Minna U. Kaikkonen, Mika Kosaka and Cindy Y. Lee, Department of Cellular and Molecular Medicine, UCSD; Han Cho, Salk Institute for Biological Studies; Aneeza S. Kim, Andy Watt and Tamar R. Grossman, Isis Pharmaceuticals, Inc.; and Ronald M. Evans, Salk Institute for Biological Studies and Howard Hughes Medical Institute; and Michael G. Rosenfeld.

Funding for this research came, in part, from National Institutes of Health grants CA17390, U19DK62434, DK091183, DK063491 and CA52599.

Co-authors of the Rosenfeld paper are Wenbo Li, Dimple Notani, Esperanza Nunez, Aaron Yun Chen, Jie Zhang, Kenneth Ohgi, Xiaoyuan Song and Hong-Sook Kim, Howard Hughes Medical Institute, Department of Medicine, UCSD; Qi Ma and Daria Merkurjev, Howard Hughes Medical Institute, Department of Medicine, UCSD and Graduate Program in Bioinformatics, UCSD; Bogdan Tanasa, Howard Hughes Medical Institute, and The Scripps Research Institute; and Soohwan Oh, Howard Hughes Medical Institute, School of Biology, UCSD; and Christopher Glass.

Funding for this research came, in part, from the Howard Hughes Medical Institute and the National Institutes of Health grant CA17390.

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Enhancer RNAs alter gene expression: New class of molecules may be key emerging 'enhancer therapy'