Editor's Choice Academic Journal Main Category: Hearing / Deafness Also Included In: Genetics Article Date: 05 Feb 2013 - 11:00 PST

Current ratings for: Tiny Genetic Patch Stops Deafness

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The animal study, which is still in its early stages, could eventually develop into new treatments for Usher syndrome, a congenital hearing disorder which usually goes hand-in-hand with blindness as well.

When the scientists injected the profoundly deaf mice with the genetic patch, they developed into partially hearing mice with no balance problems.

The authors explained that deafness is the most common sensory disorder. Approximately 1 in every 1,000 newborns is born with a hearing impairment. Congenital deafness is often the result of the improper development or degeneration of cochlear hair cells which form the tiny hairs in the ear that detect sound.

In one type of Usher syndrome - known as Type 1 Usher Syndrome - which French settlers brought to the USA hundreds of years ago, there is a problem with a protein called harmonin. Harmonin is required in order to form the cochlear hair cells. The same problem also causes gradual loss of vision.

In type 1 Usher syndrome, there is a mutation in the USH1C gene. This gene controls the production of harmonin. When USH1C has a fault (mutation), it produces truncated forms of harmonin.

They injected the mice, which had been genetically engineered to have Usher syndrome, with the genetic patch. Initially, they all grew up with no balance problems and reasonable hearing. This went on for a couple of months; their hearing was near-normal in the lower frequencies.

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The Diagnosis
MS - Multiple sclerosis (MS), also known as "disseminated sclerosis" or "encephalomyelitis disseminata", is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms. [1] Disease onset usually occurs in young adults, and it is more common in women. [1] It has a prevalence that ranges between 2 and 150 per 100000. [2] MS was first described in 1868 by Jean-Martin Charcot. [3] MS affects the ability of nerve cells in the brain and spinal cord to communicate with each other effectively. Nerve cells communicate by sending electrical signals called action potentials down long fibers called axons, which are contained within an insulating substance called myelin. In MS, the body #39;s own immune system attacks and damages the myelin. When myelin is lost, the axons can no longer effectively conduct signals. [4] The name multiple sclerosis refers to scars (scleroses mdash;better known as plaques or lesions) particularly in the white matter of the brain and spinal cord, which is mainly composed of myelin. [3] Although much is known about the mechanisms involved in the disease process, the cause remains unknown. Theories include genetics or infections. Different environmental risk factors have also been found. [4][5] Almost any neurological symptom can appear with the disease, and often progresses to physical and cognitive disability. [4] MS takes ...

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Former Vice President Al Gore: Six Drivers of Global Change
92yamericanconversation.org | Former Vice President Al Gore spoke about his new book, The Future Six Drivers of Global Change, with Charlie Rose here at 92y last week. In this clip, Gore tells us what he wants us to understand about the future. "There #39;s never been a time in human history when we #39;ve had so many truly revolutionary changes going on simultaneously." Gore focuses on the revolution in genetics, the digital revolution, economic globalization and the rise of countries like China. What do you think are the most important drivers of the future?

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2012 DoSER Annual Holiday Lecture
Almost 200 people joined DoSER on December 13 for the 2012 Annual Holiday Lecture which explored the complex relationship between genes and human identity. Renowned molecular biologist and scholar of science and religion, Denis Alexander, described recent advances in developmental biology, genomics, epigenetics and behavioral genetics, including the flurry of publications describing results from the Encyclopedia of DNA Elements (ENCODE) consortium, and discussed their implications for notions of human freedom and responsibility. Journalist Steve Paluson responded with a discussion of the similar issues raised by developments in the field of neuroscience.

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2012 DoSER Annual Holiday Lecture - Video

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SALT LAKE CITY, Feb. 5, 2013 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced results for its second fiscal quarter ended December 31, 2012. Revenue for the second fiscal quarter increased 21 percent over the same period in the prior year to $149.1 million. Second fiscal quarter earnings per diluted share were $0.42, an increase of 27 percent over the same period of the prior year.

"We are pleased with the Company's continued strong financial performance since this represents our sixth consecutive quarter of top line growth exceeding 20 percent," said Peter D. Meldrum, President and Chief Executive Officer of Myriad Genetics, Inc. "Myriad remains dedicated to driving revenue growth based on our three major strategic initiatives of expanding our existing markets, extending our international presence, and launching new products."

Second Fiscal Quarter 2013 Results

Year-to-Date Performance

Business Highlights during the Second Quarter of Fiscal 2013

Myriad Announces New $200 Million Share Repurchase Program

Myriad is also announcing today that its Board of Directors has authorized a new $200 million stock repurchase program. "This decision is reflective of Myriad Genetics commitment to maintaining a balanced capital deployment strategy," said Jim Evans, Chief Financial Officer of Myriad Genetics, Inc.

Repurchases under the $200 million authorization will be made through open market or privately negotiated purchases as determined by the Company's management. The amount and timing of stock repurchases will depend on business and market conditions, stock price, trading restrictions, acquisition activity and other factors.

Fiscal Year 2013 Outlook

The Company is tightening its revenue expectations for fiscal year 2013 financial performance. Total revenue is now expected to be in a range of $575 million to $585 million, an increase to the lower end of the previous guidance range of $570 million to $585 million. This represents 16 percent to 18 percent growth over our prior fiscal year. The Company is also increasing its guidance for fiscal year 2013 diluted earnings per share to $1.55 to $1.58, up from the previous guidance of $1.50 to $1.55 per share. The new range represents 19 percent to 21 percent growth over fiscal year 2012 diluted EPS. These projections are forward looking statements and are subject to the risks summarized in the safe harbor statement at the end of this press release. The Company will provide further detail on its business outlook during the conference call it is holding today to discuss its fiscal 2013 second quarter financial results.

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Myriad Genetics Reports Second Quarter Fiscal Year 2013 Results

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SEATTLE, WA--(Marketwire - Feb 5, 2013) - Atossa Genetics, Inc. ( NASDAQ : ATOS ), The Breast Health Company, announced today that Kyle Guse, CFO and General Counsel, will present the Company's business model, products and services, and investment thesis at the FSX Dallas Conference at the Ritz Carlton Dallas Hotel in Dallas, Texas, on Friday, February 8, 2013, beginning at 9:49 am Central Time.

Mr. Guse stated, "I believe Atossa Genetics offers investors an exciting opportunity to participate in the upside potential of our products and services focused on breast health. The recently announced national launch of the ForeCYTE Breast Health Test is one of several key milestones that position Atossa for accelerated growth in 2013 and beyond."

About Atossa Genetics, Inc.

Atossa Genetics, Inc. ( NASDAQ : ATOS ), The Breast Health Company, is based in Seattle, WA, and is focused on preventing breast cancer through the commercialization of patented, FDA-cleared diagnostic medical devices and patented, laboratory developed tests (LDT) that can detect precursors to breast cancer up to eight years before mammography, and through research and development that will permit it to commercialize treatments for pre-cancerous lesions.

The National Reference Laboratory for Breast Health (NRLBH), a wholly owned subsidiary of Atossa Genetics, Inc., is a CLIA-certified high-complexity molecular diagnostic laboratory located in Seattle, WA, that provides the patented ForeCYTE Breast Health Test, a risk assessment test for women 18 to 73 years of age akin to the Pap Smear, and the ArgusCYTE Breast Health Test, a blood test for recurrence in breast cancer survivors that provides a "liquid biopsy" for circulating cancer cells and a tailored treatment plan for patients and their caregivers.

Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding Atossa's plans, expectations, projections, potential opportunities, goals and objectives 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 from the anticipated or estimated future results, including the risks and uncertainties associated with the efficacy of Atossa's products and services, the market demand for and acceptance of Atossa's products and services and other risks detailed from time to time in the Atossa's final prospectus, dated November 7, 2012, filed with the U.S. Securities and Exchange Commission.All forward-looking statements are qualified in their entirety by this cautionary statement, and Atossa 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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Atossa Genetics to Present at the FSX Dallas Investor Conference

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

Seattle Genetics, Inc. (SGEN) today announced the initiation of two phase I clinical trials of SGN-CD19A, one for patients with B-cell acute lymphoblastic leukemia (ALL) and one for patients with B-cell non-Hodgkin lymphomas. SGN-CD19A utilizes Seattle Genetics industry-leading antibody-drug conjugate (ADC) technology. The trials are designed to assess the safety and antitumor activity of SGN-CD19A, an ADC targeted to CD19.

CD19 is expressed in a variety of hematologic malignancies, including non-Hodgkin lymphoma and ALL, and has limited expression on normal tissues making it an ideal ADC target. Our preclinical data indicate that SGN-CD19A internalizes rapidly into tumor cells, resulting in targeted cell killing, said Jonathan Drachman, M.D., Senior Vice President, Research and Translational Medicine at Seattle Genetics. Our SGN-CD19A clinical development program comprises two trials that, together, will provide a robust understanding of the activity and tolerability of this ADC in patients with aggressive CD19-positive lymphomas or ALL. In addition to the five ADCs already in ongoing clinical trials, we plan to advance two additional ADC programs into the clinic during 2013, underscoring our leadership in the field.

The studies are phase I, open-label, dose-escalation clinical trials. The primary endpoints are to estimate the maximum tolerated dose and to evaluate the safety of SGN-CD19A. In addition, the trials will evaluate antitumor activity, pharmacokinetics, progression-free survival and overall survival. One trial will enroll adult and pediatric patients with relapsed or refractory B-cell ALL, as well as patients with Burkitt lymphoma or leukemia or B-cell lymphoblastic lymphoma. The dose escalation portion of the study is designed to evaluate both weekly and every three week schedules and will enroll approximately 80 patients at multiple centers in the United States. A second trial will enroll patients with relapsed or refractory aggressive B-cell non-Hodgkin lymphomas, including diffuse large B-cell lymphoma (DLBCL) and mantle cell lymphoma. The dose escalation portion of the trial will evaluate SGN-CD19A administered every three weeks and will enroll approximately 25 patients at multiple centers in the United States.

Both trials permit additional patients to be enrolled into expansion cohorts following determination of the maximum tolerated dose.

For more information about the trials, including enrolling centers, please visit http://www.clinicaltrials.gov.

About SGN-CD19A

SGN-CD19A is an ADC composed of an anti-CD19 antibody attached to a synthetic cytotoxic cell-killing agent, monomethyl auristatin F (MMAF), using Seattle Genetics proprietary technology. The ADC is designed to be stable in the bloodstream, and to release its cytotoxic agent upon internalization into CD19-expressing cells. This approach is intended to spare non-targeted cells and thus reduce many of the toxic effects of traditional chemotherapy while enhancing the antitumor activity.

About Acute Lymphoblastic Leukemia

Acute lymphoblastic leukemia, also called acute lymphocytic leukemia or ALL, is an aggressive type of cancer of the bone marrow and blood that progresses rapidly without treatment. In ALL, lymphoblasts, which are malignant, immature white blood cells, multiply and crowd out normal cells in the bone marrow. ALL is the most common type of cancer in children. According to the American Cancer Society, approximately 6,000 people were to be diagnosed with ALL during 2012 and more than 1,400 would die from the disease.

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Seattle Genetics Initiates Two Phase I Trials of SGN-CD19A

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Feb. 4, 2013 By broadly comparing the DNA of children to that of elderly people, gene researchers have identified gene variants that influence lifespan, either by raising disease risk or by providing protection from disease.

"This research is the first genome-wide, population-based study of copy number variations in children associated with human longevity," said study leader Hakon Hakonarson, MD, PhD, director of the Center for Applied Genomics at The Children's Hospital of Philadelphia.

The study appeared Jan. 30 in the open-access journal PLOS ONE.

Copy number variations (CNVs) are rare but play important role in raising or lowering disease risk

Copy number variations (CNVs) are losses or gains in DNA sequence that are usually rare, but which often play an important role in raising or lowering the risk of disease.

The study team compared the rates of CNVs in a sample of 7,313 young subjects, 18 years old and below, from the Children's Hospital network, to a group of 2,701 Icelandic subjects, 67 years old or above, recruited by the Icelandic Heart Association. The researchers used microchip arrays to perform the whole-genome CNV analyses.

"Our assumption was that CNVs appearing in children but not in the elderly were more likely to be disease-causing, while CNVs that were proportionately higher in older people were more likely to be protective, allowing them to live longer," said Hakonarson.

Study compared CNVs in children with CNVs in older people

After performing a replication study in an independent U.S. cohort of 2,079 children and 4,692 older people and making statistical adjustments to address population stratification, the study team found seven significant CNVs. Three of the CNVs were deletions of DNA sequence, while four were duplications.

The genes impacted by the CNVs were disproportionately involved in alternative splicing. This is an important biological mechanism in which, instead of one gene simply expressing one protein, modifications to messenger RNA result in different protein products based on the same underlying DNA code in a given gene.

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Gene variants found to affect human lifespan

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Personal Genome Sequencing: A Lecture by Marc S. Williams, MD
The Silverstein Lecture series is hosted by Northwestern University #39;s Center for Genetic Medicine twice annually. The winter 2013 lecture series, held on January 16 and 17, 2013, featured Marc S. Williams, MD, Director, Geisinger Health System Genomic Medicine Institute. Created by NUIT A RT NUAMPS (Northwestern University Advanced Media Production Studio)

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SAN DIEGO, Feb. 4, 2013 /PRNewswire/ -- Sequenom, Inc. (SQNM), a life sciences company providing innovative diagnostic testing and genetic analysis solutions, announced today that the MaterniT21 PLUS laboratory-developed test (LDT) available exclusively through Sequenom Center for Molecular Medicine (Sequenom CMM) will now report as additional findings the presence of certain fetal sex chromosomal aneuploidies, in addition to its identification of autosomal aneuploidies for chromosome 21 (associated with Down syndrome), chromosome 18 (associated with Edwards syndrome), and chromosome 13 (associated with Patau syndrome). Reporting of these sex aneuploidies will begin for samples received as of Monday, February 4, 2013.

The test will report on the presence of four rare aneuploidies involving an abnormal number of X or Y chromosomes, including female syndromes 45,X (Turner Syndrome) and 47,XXX (Triple X Syndrome), and male syndromes 47,XXY (Klinefelter Syndrome) and 47,XYY. Results of the blinded clinical validation study set have been submitted for publication in a peer-reviewed journal.

"Sex chromosome abnormalities may be recognized at birth, as part of the spectrum of less severe chromosome abnormalities. They can also be found in adults, many being incidentally discovered in the course of evaluating patients for infertility or endocrine problems. Identifying these conditions through the MaterniT21 PLUS test will allow the health care provider and patient to discuss the medical issues associated with these conditions as well as to develop both short- and long-term care plans," said Allan Bombard, MD, Sequenom's Chief Medical Officer.

The MaterniT21 PLUS test analyzes the relative amount of 21, 18, 13, as well as X and Y chromosomal material in cell-free DNA. The test is intended for use in pregnant women at increased risk for fetal aneuploidy and can be used as early as 10 weeks' gestation. Estimates suggest there are about 750,000 pregnancies at high risk for fetal aneuploidy each year in the United States. The MaterniT21 PLUS test is available exclusively through the Sequenom Center for Molecular Medicine (Sequenom CMM) as a testing service provided to physicians. To learn more about the test, please visit http://www.Sequenomcmm.com.

About Sequenom

Sequenom, 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 CMM

Sequenom 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 name SensiGene, MaterniT21 PLUS, and RetnaGene, these molecular genetic laboratory tests provide early patient management information for obstetricians, geneticists and maternal fetal medicine specialists. Sequenom CMM is changing the landscape in genetic disorder diagnostics using proprietary cutting edge technologies.

Forward-Looking Statement

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the expected publication and timing thereof of the validation data for the fetal sex chromosomal aneuploidies, the expected date of February 4, 2013 for reporting fetal sex chromosomal aneuploidies, the impact, benefits, and effect of identifying fetal sex chromosomal aneuploidies on patient care and planning, the Company's commitment to improving healthcare through revolutionary genetic analysis solutions, and Sequenom CMM changing the landscape in genetic disorder 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 MaterniT21 PLUS 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 and its Annual Report on Form 10-K for the year ended December 31, 2011, 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 CMM's MaterniT21 PLUS LDT Now Reporting On Gender-Specific Chromosomal Abnormalities

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London, Feb 5 (ANI): A tiny "genetic patch" can be used to prevent a form of deafness that runs in families, a new research has shown.

Patients with Usher syndrome have defective sections of their genetic code which cause problems with hearing, sight and balance.

A study showed the same defects could be corrected in mice to restore some hearing, the BBC reported.

Experts said it was an "encouraging" start.

There are many types of Usher syndrome tied to different errors in a patient's DNA - the blueprint for building every component of the body.

One of those mutations runs in families descended from French settlers in North America.

When they try to build a protein called hormonin, which is needed to form the tiny hairs in the ear that detect sound, they do not finish the job.

It results in hearing loss at birth and has a similar effect in the eye where it causes a gradual loss of vision.

Scientists at the Rosalind Franklin University of Medicine and Science, in Chicago in the US, designed a small strip of genetic material which attaches to the mutation and keeps the body's factories building the protein.

There has been something of a flurry of developments in restoring hearing in the past year.

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Genetic patch cures deafness in newborn mice

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