Archive for the ‘Gene Therapy Research’ Category

SAN DIEGO, March 21, 2013 /PRNewswire/ --Sequenom, Inc. (SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that Sequenom Center for Molecular Medicine (SCMM) has launched an advanced new cystic fibrosis carrier screen test branded under the name Heredi-T. The laboratory-developed test (LDT) is now available as a testing service to ordering physicians.

The Heredi-T Cystic Fibrosis (CF) test analyzes 136 mutations and five variants proven to be clinically relevant in causing CF, integrating disease causing mutations selected from the Johns Hopkins CFTR2 database (http://www.cftr2.org). The LDT analyzes nearly six times the number of mutations currently available in other screening methods and can be performed preconception or at any time during pregnancy with a DNA sample obtained from a buccal swab.

"The Heredi-T test provides significant new clinical value, offering highly reliable information about a patient's risk of being a cystic fibrosis carrier," said Bill Welch, President and COO of Sequenom. "This introduction adds to Sequenom CMM's leadership in prenatal testing and supports our mission to help health care providers and their patients make more informed clinical decisions through the use of advanced genetics."

The American College of Obstetricians and Gynecologists (ACOG) recommends cystic fibrosis carrier screening for all patients. According to ACOG, additional screening consideration should be given to patients with the following, as these clinical indicators increase the risk of CF:

Results of the Heredi-T CF test are delivered to the physician on average within seven business days. A positive Heredi-T CF test result indicates that the patient has one copy of a genetic mutation that is known to cause CF, and they should be advised to consider genetic counseling or further testing. A negative Heredi-T CF test result indicates a low risk for CF, but does not completely eliminate the risk because the test does not screen for all possible CF mutations.

About Cystic FibrosisCystic fibrosis (CF) is one of the most common genetic diseases in the United States. It is caused by changes in the CFTR gene. Changes in this gene cause the body to produce thick sticky mucus in the lungs, pancreas and other organs that can affect breathing and digestion. Symptoms can range from moderate to severe and can even impact fertility. It is estimated that more than 10 million Americans are carriers of CF. While the risk of being a CF carrier is dependent upon one's ethnicity and family history, individuals of all racial and ethnic groups may be carriers of CF.

About SequenomSequenom, Inc. (SQNM) is a life sciences company committed to improving healthcare through revolutionary genetic analysis solutions. Sequenom develops innovative technology, products and diagnostic tests that target and serve discovery and clinical research, and molecular diagnostics markets. The company was founded in 1994 and is headquartered in San Diego, California. Sequenom maintains a Web site at http://www.sequenom.com to which Sequenom regularly posts copies of its press releases as well as additional information about Sequenom. Interested persons can subscribe on the Sequenom Web site to email alerts or RSS feeds that are sent automatically when Sequenom issues press releases, files its reports with the Securities and Exchange Commission or posts certain other information to the Web site.

About Sequenom Center for Molecular MedicineSequenom Center for Molecular Medicine (Sequenom CMM), a CAP accredited and CLIA-certified molecular diagnostics laboratory, has developed a broad range of laboratory tests with a focus on prenatal and ophthalmological diseases and conditions. Branded under the names MaterniT21 PLUS, Heredi-T, SensiGene and RetnaGene, these molecular genetic laboratory tests provide early patient management information for obstetricians, geneticists, maternal fetal medicine specialists, retina specialists and ophthalmologists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies. Visit http://www.sequenomcmm.comfor more information on laboratory testing services.

SEQUENOM, SEQUENOM CMM , MaterniT21 PLUS, Heredi-T, SensiGene and RetnaGene are trademarks of Sequenom, Inc. All other trademarks and service marks are the property of their respective owners.

Forward-Looking Statements Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the expected benefits, impact, and value of the Heredi-T CF test to healthcare providers and their patients, the Company's commitment to improving healthcare through revolutionary genetic analysis solutions, and Sequenom CMM's impact on the landscape in genetic diagnostics, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially, including the risks and uncertainties associated with market demand for and acceptance and use of technology and tests such as the Heredi-T CF test, reliance upon the collaborative efforts of other parties such as, without limitation, healthcare providers, international distributors and licensees, the Company or third parties obtaining or maintaining regulatory approvals that impact the Company's business, government regulation particularly with respect to diagnostic products and laboratory developed tests, publication processes, the performance of designed product enhancements, the Company's ability to develop and commercialize technologies and products, particularly new technologies such as noninvasive prenatal diagnostics, laboratory developed tests, and genetic analysis platforms, the Company's financial position, the Company's ability to manage its existing cash resources or raise additional cash resources, competition, intellectual property protection and intellectual property rights of others, litigation involving the Company, and other risks detailed from time to time in the Company's most recently filed Quarterly Report on Form 10-Q for the quarter ended September 30, 2012, its most recently filed reports on Form 8-K, and its most recently filed Annual Report on Form 10-K, and other documents subsequently filed with or furnished to the Securities and Exchange Commission. These forward-looking statements are based on current information that may change and you are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date of this press release. All forward-looking statements are qualified in their entirety by this cautionary statement, and the Company undertakes no obligation to revise or update any forward-looking statement to reflect events or circumstances after the issuance of this press release.

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Sequenom, Inc. Announces The Availability Of Heredi-T™ Cystic Fibrosis Carrier Screening LDT Through Sequenom CMM

Heart Panel For Preventing Heart Disease | Larry King Now | Ora TV
Larry King experts discuss heart disease. Expert panel includes cardiologist Dr. Prediman K. (P.K.) Shah, cardiologist Dr. Liza Matzer, "The Biggest Loser"...

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Heart Panel: Women Heart Disease | Larry King Now | Ora TV
Larry King experts discuss heart disease women. Expert panel includes cardiologist Dr. Prediman K. (P.K.) Shah, cardiologist Dr. Liza Matzer, "The Bigges...

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As European as we can get - Do Europeans feel European ?
EESC Civil Society Day 2013.

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The Genetics of Obesity and Weight Loss
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5 Steps to Overhaul Teaching
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DNA Genetics LA Woman
DNA Genetics LA Woman is LA Confidential crossed with Martian Mean Green. Debut of this marijuana strain in my grow room. See more on my website http://www.m...

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Codebreakers: Makers of Modern Genetics
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Pirjo Mäkelä moving from genetics to modeling
Aino Takala, Orion. The role of infectious diseases research in advancing global health. Pirjo Mäkelä memorial symposium in Helsinki 10.12.2012.

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Harvard Genetics Harlem shake!
Copyright Baauer - Harlem Shake.

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Genetics and comparisons
Quick chat about genetics and motivation!

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The Online Revolution: Education for Everyone
In 2011, Stanford University offered three online courses, which anyone in the world could enroll in and take for free. Together, these three courses had enr...

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They STILL Can #39;t Grasp Heritability
Because their overarching ideological agenda is to deny any genetic contribution to extant racial variations in cognitive traits. Hannibal "Pieface" the Vanq...

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Genetic Potential TV episode 1
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Public release date: 20-Mar-2013 [ | E-mail | Share ]

Contact: Steve Yozwiak syozwiak@tgen.org 602-343-8704 The Translational Genomics Research Institute

PHOENIX, Ariz. March 20, 2013 Dr. Lisa Baumbach-Reardon, an Associate Professor at the Translational Genomics Research Institute (TGen), will lead a panel discussion about Arthrogryposis (ARGY) today at the 2013 American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting.

Arthrogryposis is a complex congenital disorder associated with stunted muscular development. It is characterized by multiple contractures, stiff joints and limited movement in multiple parts of the body, usually in the arms and legs. It occurs in nearly 1 in every 3,000 births, and children are often born with the condition with no pre-birth indications.

"This is an area of medical study ripe for new genomic investigations," said Dr. Baumbach-Reardon, who is one of the co-monitors of the conference session, Advances in Classification: Genetic Diagnosis and Understanding of Arthrogryposis and Related Fetal Movement Disorders.

The session, scheduled for 10 a.m. Wednesday, March 20, at the Phoenix Convention Center, will focus on recent advances in clinical classification, genetic causes and the underlying biology of ARGY.

"Arthrogryposis is not a diagnosis, but a sign," said Dr. Judith Hall of the University of British Columbia Medical School, the other co-monitor of the panel and a former President of the American Society of Human Genetics. Treatment of Arthrogryposis should begin as soon as 6-8 weeks after conception, said Dr. Hall, yet nearly 75 percent of children with the condition remain undiagnosed prior to birth.

Other panel speakers are: Dr. Anna Sarkozy of Newcastle University in the United Kingdom, and Mar Tulinius of Sahlgrenska University Hospital in Sweden.

Dr. Baumbach-Reardon is an American Board of Medical Genetics (ABMG) certified scientist in Clinical Molecular and Biochemical Genetics. Her main research areas are the molecular basis of a number of inherited neurological and neuromuscular diseases, and the genetic basis of African-American breast cancer.

In October 2011, Dr. Baumbach-Reardon joined TGen's Integrated Cancer Genomics Division. She conducts groundbreaking work in the genomics of infantile motor-neuron diseases and of breast cancer, and is developing TGen's Dorrance Clinical Laboratory, the institute's new federally certified CLIA (Clinical Laboratory Improvement Act) DNA lab.

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TGen researcher leads distinguished international panel at genetics conference in Phoenix

Public release date: 21-Mar-2013 [ | E-mail | Share ]

Contact: Ivanka Moerkerken i.moerkerken@uroweb.org 31-026-389-0680 European Association of Urology

"Are there genetic risk factors for PCa? Yes, and BRCA2 and HOXB13 are useful for predicting high-risk disease," said Jack Cuzick (GB) president of the International Society for Cancer Prevention (ISCaP), referring to the two genes implicated in high-risk prostate disease. Cuzick gave a report on the Consensus Statement for Prostate Cancer Prevention at the closing plenary session of the 28 Annual EAU Congress held in Milan, Italy from March 15 to 19.

"The goal should be to integrate with other protein markers in order to develop risk-adapted screening algorithms," he explained. Cuzick's report will be further refined to create a consensus statement for prostate cancer prevention that will be released in the coming months by the International Conference on Prostate Cancer Prevention.

According to Cuzick, genetic factors may also provide a crucial role in determining types of cancer which require different types of treatments. Not all prostate cancer types are aggressive, and identifying lethal prostate disease from indolent ones is important to avoid over diagnosis and treatment.

Co-sponsored by ISCaP, the EAU, National Institutes of Health (USA), Cancer Research UK, Prostate Cancer UK and the AICR, the group, composed of 28 panel members, met during the EAU Congress in Milan. The topics they covered included the biology and history of PCa, risk-reduction biomarkers, issues in early detection and PSA screening, prognosis and management of low-grade disease, review of chemoprevention trials and new chemoprevention agents.

"Other risk factors are age, family history, exposure to radiation , and the area of ancestral geographic origin and ethnicity (as shown, for example, in the higher incidence in Sweden compared to Italy)," Cuzick said.

However, the evidence for obesity, smoking, use of statins, diabetes and UTIs, among others, is less convincing, making them "uncertain risks," the panel members said. They added that with the evidence for lack of exercise, obesity and poor diet still unconfirmed, these factors may not be a priority for research "due to complications in evaluation."

Vitamin E and multi-vitamin supplements also took a hit during the meeting, "Vitamin E supplement is detrimental (particularly when taken at the threshold dosage of 400mg)," Cuzick said, and added that there is no proven effect in selenium, a vitamin popularly marketed as reducing the risks for prostate disease.

On the other hand, further research is needed on soya and phyto-oestrogens, while the research results for vitamin D and sunlight "are not promising although definitive research is ongoing," Cuzick said.

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Genetics , age and ethnicity are risk factors in PCa, say experts

--- Q4 Revenue Increases 11% to $5.5 Million Relative to Q4 2011 and Gross Margin Increases to 54% ---

--- Fourth Quarter Losses Decrease to $0.5 Million Relative to Q4 2011 Loss of $3.9 Million ---

LOS ANGELES, March 21, 2013 (GLOBE NEWSWIRE) -- Response Genetics, Inc. (RGDX), a company focused on the development and sale of molecular diagnostic tests that help determine a patient's response to cancer therapy, today announced its consolidated financial results and business progress for the full year and fourth quarter ended December 31, 2012.

Total revenue for the fourth quarter ended December 31, 2012 was $5.5 million compared to $4.9 million for the quarter ended December 31, 2011 and $5.4 million for the quarter ended September 30, 2012. The Company's pharmaceutical client revenue increased by 36% and the Company's ResponseDX(R) revenue decreased 1% relative to the quarter ended December 31, 2011 and the Company's pharmaceutical client and ResponseDX(R) revenues increased 3% and 2%, respectively, relative to the quarter ended September 30, 2012.

The Company's net loss for the fourth quarter ended December 31, 2012 decreased to $0.5 million, or $(0.01) per share, compared to a net loss of $3.9 million, or $(0.20) per share, for the quarter ended December 31, 2011 and a net loss of $1.4 million, or $(0.05) per share, for the quarter ended September 30, 2012. This is the fourth consecutive quarter the Company decreased its net loss.

The Company also increased its gross margin to 54% for the quarter ending December 31, 2012 compared to 25% for the fourth quarter of 2011 and 49% for the quarter ended September 30, 2012. Gross margin is calculated as net revenue less cost of revenue.

Excluding cost of revenue, total operating expenses for the fourth quarter were $3.5 million, compared to $5.2 million for the same period last year and $4.0 million for the quarter ended September 30, 2012.

Cash and cash equivalents at December 31, 2012, were $9.0 million, compared to $1.7 million at December 31, 2011.

"We are once again very pleased with the financial results for the quarter ended December 31, 2012, which improved for the fourth consecutive time relative to the prior quarter. Since the fourth quarter of last year, we continued to realize consecutive quarter-over-quarter positive results from the many changes implemented by the Company. Gross margins have increased more than two-fold from the fourth quarter of last year, and operating loss has continued to decrease significantly, or nearly three-fold, since the third quarter of 2012 and by nearly eight-fold from the fourth quarter of last year," said Thomas Bologna, the Company's Chairman & Chief Executive Officer.

Mr. Bologna added, "Of equal importance, the Company currently has a strong balance sheet which will provide the means for implementing the structure needed to build top-line growth. We are well on our way to developing a dynamic ResponseDX(R) sales force which we expect will deliver top-line testing growth in the second half of 2013. We believe strong top-line growth coupled with the Company's new management team, cost structure and focus on operational efficiencies, which were the hallmarks of our 2012 efforts, will help to further drive our strategic and financial performance."

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Response Genetics , Inc. Announces Fourth Quarter and Year-End 2012 Financial Results

TUESDAY, March 19 (HealthDay News) -- Genetic testing may help identify women at risk for certain types of breast cancer, according to a new study.

Researchers found that over-expression or under-expression of certain genes may help doctors pinpoint women with estrogen receptor-positive or estrogen receptor-negative breast cancer. Doctor could then take appropriate steps to reduce breast cancer risk in certain patients.

The study appears March 19 in the journal Cancer Prevention Research.

"Currently, three drugs can be used to prevent breast cancer in women who are at extremely high risk for the disease," study co-author Dr. Seema Khan, said in a journal release. "However, these drugs prevent only breast cancers that are sensitive to hormones, commonly referred to as estrogen receptor-positive breast cancers. They do not prevent breast cancers that are insensitive to hormones, or estrogen receptor-negative breast cancers."

"We should not expose women at risk for hormone-insensitive breast cancer to the side effects of preventive medications that we know will not work for them," added Khan, who is co-leader of the Breast Cancer Program at Northwestern University, in Chicago. "Moreover, if we knew who these women were, we could focus on them in terms of designing new studies to find a solution for preventing hormone-insensitive cancer."

In their study, the researchers collected samples from unaffected breasts of 27 women with estrogen receptor-positive breast cancer, 27 women with estrogen receptor-negative cancer and 12 women without the disease.

The samples from the women with estrogen receptor-negative cancer had significantly higher expression of 13 genes, eight of which are associated with fat metabolism.

"This was interesting because obesity is a breast cancer risk factor for postmenopausal women, but obese women are generally thought to be at increased risk for hormone-sensitive cancer," Khan said. "We were surprised to see that some of these genes that are associated with lipid metabolism, or the metabolism of fats, are actually more highly expressed in the unaffected breasts of women with estrogen receptor-negative breast cancer."

The researchers also found that two genes associated with fat metabolism were under-expressed in samples from women with estrogen receptor-positive breast cancer.

"It will be a few more steps before this information is practically useful, but we are hoping that it can take us to a place where we can obtain a breast sample from healthy women, see that they are at risk for a certain type of breast cancer and tailor the prevention strategy accordingly," Khan said.

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Genetics May Be Tied to Breast Cancer Risk in Unexpected Ways

BOTHELL, Wash.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (SGEN) announced today that it has submitted a supplemental Biologics License Application (sBLA) to the U.S. Food and Drug Administration (FDA) supporting the use of ADCETRIS (brentuximab vedotin) for retreatment and extended duration beyond 16 cycles of therapy in relapsed Hodgkin lymphoma (HL) and systemic anaplastic large cell lymphoma (sALCL). ADCETRIS is an antibody-drug conjugate (ADC) directed to CD30, a defining marker of HL and sALCL, that was granted accelerated approval by the FDA in August 2011 for relapsed HL and relapsed sALCL.

The sBLA submission includes data demonstrating ADCETRIS activity in managing HL and sALCL when used in the retreatment setting, as well as beyond the 16 cycles described in our current label, while retaining a manageable safety profile, said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. Our goal is to broaden the ADCETRIS U.S. labeling claims to provide both patients and physicians the opportunity to incorporate ADCETRIS into additional HL and sALCL treatment settings. The sBLA submission includes data that support these uses and we look forward to the regulatory outcome.

The sBLA is based on results from a phase II clinical trial with two treatment arms. One arm evaluated retreatment with ADCETRIS in patients who previously responded to treatment with ADCETRIS, then discontinued treatment and subsequently had disease progression or relapse. The other arm allowed treatment extension and evaluated prolonged treatment with ADCETRIS beyond 16 cycles of therapy. The sBLA submission includes updated data sets from this phase II trial. Preliminary data from this trial were previously reported at the 2011 American Society of Hematology (ASH) Annual Meeting and at the 2012 American Society of Clinical Oncology (ASCO) Annual meeting.

At the 2012 ASCO Annual Meeting, retreatment data from the phase II trial were reported from 23 patients, including one patient who was treated twice. Patients had received a median of four prior systemic therapies, including ADCETRIS. Of 23 evaluable patients, 70 percent (16 of 23) achieved an objective response after retreatment with ADCETRIS, including nine complete remissions and seven partial remissions. Median duration of retreatment objective response was 8.8 months. Among retreated HL patients, nine of 16 (56 percent) achieved an objective response. Among retreated sALCL patients, seven of eight (88 percent) achieved an objective response. The most common adverse events were peripheral neuropathy (46 percent), nausea (42 percent), fatigue (38 percent), diarrhea (33 percent) and fever (29 percent).

At the 2011 ASH Annual Meeting, prolonged treatment data were reported from 17 patients with a median duration of treatment of 17.3 months (approximately 24 cycles of every three week dosing). The overall objective response rate with extended treatment was 88 percent, including 76 percent complete remissions and 12 percent partial remissions. ADCETRIS was generally well-tolerated, with the most common adverse events being peripheral neuropathy (71 percent), upper respiratory infection (53 percent) and fatigue (47 percent). Prolonged treatment with ADCETRIS was associated with clinically meaningful durations of response without worsening of toxicity over time.

ADCETRIS is currently not approved for retreatment and extended duration beyond 16 cycles of therapy in relapsed HL and sALCL.

About Lymphoma

Lymphoma is a general term for a group of cancers that originate in the lymphatic system. There are two major categories of lymphoma: Hodgkin lymphoma and non-Hodgkin lymphoma. Hodgkin lymphoma is distinguished from other types of lymphoma by the presence of one characteristic type of cell, known as the Reed-Sternberg cell. The Reed-Sternberg cell generally expresses CD30. Systemic ALCL is an aggressive type of T-cell non-Hodgkin lymphoma that also expresses CD30.

About ADCETRIS

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Orphan Genes
FAIR USE FOR EDUCATIONAL PURPOSES Orphan genes are defined as genes which lack detectable similarity to genes in other species and therefore no clear signals...

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Live launch of LDCM via Atlas V Rocket
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Walter Cronkite - "The 21st Century" March 12, 1967
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Intro to Viruses Part 1
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