Category Archives: Genetic Medicine

SAN DIEGO, Feb. 22, 2012 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM - News), a life sciences company providing innovative genetic analysis solutions, today announced that it has filed a motion for preliminary injunction against Aria Diagnostics ("Aria") to stop Aria from making, using, selling or offering for sale, importing or exporting, infringing tests for detecting fetal chromosomal aneuploidy, such as Aria's Harmony Prenatal Test™, pending the ultimate resolution of the litigation.

Sequenom's request for preliminary injunction follows the lawsuit filed on January 24, 2012, in the United States District Court for the Southern District of California, which alleges that Aria infringes U.S. Patent No. 6,258,540 ("'540 patent").  Sequenom is requesting that the district court quickly intervene to stop Aria Diagnostics' continued infringement of the '540 patent.

Sequenom Center for Molecular Medicine (Sequenom CMM) was the first to market a non-invasive prenatal diagnostics laboratory developed test (LDT) for chromosomal aneuploidy.  Sequenom CMM's MaterniT21™ PLUS LDT detects a genetic chromosomal anomaly known as Trisomy 21, the most common cause of Down syndrome, and also detects trisomies 18 and 13.  The test is available to physicians upon request in major metropolitan regions across the United States.

About Sequenom

Sequenom, Inc. (NASDAQ: SQNM - News) 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 Medicine

Sequenom Center for Molecular Medicine (Sequenom CMM®) has two CAP accredited and CLIA-certified molecular diagnostics reference laboratories dedicated to the development and commercialization of laboratory developed test for prenatal and eye conditions and diseases.  Utilizing innovative proprietary technologies, Sequenom CMM provides test results that can be used as tools by clinicians in managing patient care.  Testing services are available only upon request to physicians.  Sequenom CMM works closely with key opinion leaders and experts in obstetrics, retinal care and genetics.  Sequenom CMM scientists use a variety of sophisticated and cutting-edge methodologies in the development and validation of tests.  Sequenom CMM is changing the landscape in genetic diagnostics. Visit http://www.scmmlab.com for more information on laboratory testing services.

Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the outcome or resolution of, or expectations regarding the motion for preliminary injunction, the ultimate resolution of the litigation, the Company's commitment to improving healthcare through revolutionary genetic analysis solutions, and Sequenom CMM's dedication to the development and commercialization of laboratory developed tests, and changing 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 by customers of products such as the MaterniT21 PLUS LDT, reliance upon the collaborative efforts of other parties, the Company's financial position, its ability to position itself for product launches and growth and develop and commercialize new technologies and products, particularly newer technologies such as noninvasive prenatal diagnostics, laboratory developed tests, and genetic analysis platforms, 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, government regulation particularly with respect to diagnostic products and laboratory developed tests, obtaining or maintaining regulatory approvals, 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 and Annual Report on Form 10-K for the year ended December 31, 2010, 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. Files Motion for Preliminary Injunction Against Aria Diagnostics

By MICHAEL SASSO | The Tampa Tribune
Published: February 23, 2012 Updated: February 23, 2012 - 12:00 AM

TAMPA --

The man who served for the last decade as chief of the H. Lee Moffitt Cancer Center & Research Institute is leaving his post to lead Moffitt's genetic research lab and its new Personalized Medicine Institute.

The move is a new direction for Dr. William Dalton, rather than a promotion or demotion, he said. Dalton will focus on helping Moffitt capitalize on "personalized medicine" — finding ways to tailor cancer treatment to specific patients.

Dr. Alan List, a Moffitt executive vice president who leads its physicians group, will take over as Moffitt's chief executive officer in July.

"I just see it as a new journey for me at Moffitt," Dalton said.

A self-proclaimed "desert rat" from Arizona, Dalton came to Moffitt in 1997 to help lead its clinical research. He left for a spell in the early 2000s to lead the University of Arizona's medical school but returned to Moffitt in August 2002 as chief executive, a bio on Moffitt's website says.

Dalton has been very involved lately in Moffitt's innovative genetics lab, M2Gen, and his new post will let him focus on it even more.

M2Gen hasn't lived up to its promise, though. The lab has collected thousands of tumor samples in five years and studied their unique genetic makeup. Eventually, researchers may use the tumor research to find better treatments for cancer patients.

But it hasn't yet helped spawn a biomedical industry in Tampa, something civic leaders are counting on. Also, in November, M2Gen lost its second chief executive in two years.

Dalton insists the genetics lab has had a run of good news lately, persuading the drug giant Merck & Co. to continue as a partner for another year. Merck has been M2Gen's biggest financial supporter.

Two unnamed companies also signed deals with M2Gen to tap into its tumor research, Dalton said.

Aside from leading M2Gen, Dalton also will lead a new Personalized Medicine Institute at Moffitt, allowing him to get Moffitt's doctors and researchers more involved in M2Gen and personalized medicine.

Dalton is well-known in Tampa Bay-area business circles and is a member of an exclusive group of business leaders called the No Name Group. The group meets once a month at The Capital Grille in Tampa and other restaurants to talk community affairs.

People who have worked with Dalton praised his tenure as Moffitt's leader.

Robert Rothman, chairman of Moffitt's board, said it was Dalton's idea to switch to running M2Gen and personalized cancer care full-time.

"We concluded this is really a unique opportunity for the center," Rothman said. "We couldn't think of a better person to lead the effort than Bill."

Dalton negotiated a partnership with All Children's Hospital in the mid-2000s, where All Children's collaborates with Moffitt on pediatric cancer cases.

"Besides being a very good physician, he's also been a great person for us to work with," said All Children's President and Chief Executive Officer Gary Carnes.

Link:
Moffitt chief to lead genetic research lab unit

Public release date: 22-Feb-2012
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Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation

Two independent groups of researchers ? one led by Adrian Clark, at Queen Mary University of London, United Kingdom; and the other led by Jean-Laurent Casanova, at The Rockefeller University, New York ? have now identified the disease-causing gene in patients with a complex inherited syndrome most commonly observed in the Irish Traveller community. As noted by Jordan Orange, at the University of Pennsylvania School of Medicine, Philadelphia, in an accompanying commentary, the new data provide deep mechanistic insight into a complex human condition and expand our understanding of the human immune and endocrine systems, both of which are disrupted in patients.

Within the Irish Traveller community, several families have been found to suffer from an inherited condition characterized by failure of the adrenal glands to produce adequate amounts of steroid hormones, abnormal development (in particular, retarded growth), and a deficiency in immune cells known as NK cells. Both groups of researchers found that mutations in the MCM4 gene are responsible for this complex inherited condition. The MCM4 gene is responsible for templating a protein that is required for DNA to replicate itself, something that happens every time a cell divides. Consistent with this, both groups of researchers found that the MCM4 mutations associated with disease caused genomic instability, something that they suggest might possibly put affected individuals at increased risk for cancer.

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TITLE: MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

AUTHOR CONTACT:
Adrian J.L. Clark
Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, United Kingdom.
Phone: 44.20.7882.6202; Fax: 44.20.7882.6197; E-mail: a.j.clark@qmul.ac.uk.

View this article at: http://www.jci.org/articles/view/60224?key=cb4664b3464dffe5841c

ACCOMPANYING ARTICLE
TITLE: Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

AUTHOR CONTACT:
Jean-Laurent Casanova
The Rockefeller University, New York, New York, USA.
Phone: 212.327.7331; Fax: 212.327.7330; E-mail: jean-laurent.casanova@rockefeller.edu.

View this article at: http://www.jci.org/articles/view/61014?key=9c3e63bab008bc523ccd

ACCOMPANYING COMMENTARY
TITLE: Unraveling human natural killer cell deficiency

AUTHOR CONTACT:
Jordan S. Orange
University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
Phone: 267.426.5622; Fax 267.426.0947; E-mail: orange@upenn.edu.

View this article at: http://www.jci.org/articles/view/62620?key=7b2cf2771a25813f75d8

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Continue reading here:
Uncovered: Genetic cause of complex disease seen in Irish Traveller community

12-12-2011 11:41 Genomic Medicine Centers Meeting II December 5-6, 2011 More: http://www.genome.gov

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Clinical Sequencing at Medical College of Wisconsin - Howard Jacob - Video

Public release date: 21-Feb-2012
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Contact: Margaret Allen
mallen@smu.edu
214-768-7664
Southern Methodist University

A majority of college students is receptive to donating blood or other genetic material for scientific research, according to a new study from Southern Methodist University, Dallas.

In what appears to be the first study to gauge college students' willingness to donate to a genetic biobank, the study surveyed 250 male and female undergraduate and graduate students.

Among those surveyed, 64 percent said they were willing to donate to a biobank, said study author Olivia Adolphson. Students filled out a two-page survey with 18 questions designed to assess their willingness to participate in a biobank, an archive of blood and tissue samples donated by individuals for the purpose of genetic research.

Student reasons include altruism, while barriers were privacy and lack of time

"Overall I found that my sample was very willing to participate in a biobank," said Adolphson, an undergraduate psychology researcher at SMU. "The reasons cited were altruism ? people want to help others ? as well as to advance scientific research and to help find cures. The barriers were concerns about privacy, lack of time, lack of interest and lack of knowledge."

Also from the study, students with a family health history of cancer, heart disease, high blood pressure, Alzheimer's, diabetes and other diseases were not more motivated than other students to donate to a biobank, Adolphson said.

Adolphson has been invited to present two posters on her study, "College Students' Perceptions of Genetic Biobanking," in April at the 33rd Annual Meeting and Scientific Sessions of the Society of Behavioral Medicine in New Orleans.

First study of its kind to look at college students in the United States

"This appears to be the first study to gauge college students' willingness to donate to a genetic biobank," said licensed clinical psychologist and the study's principal investigator Georita Frierson, an SMU assistant professor and health behaviors expert.

Of the students surveyed, 73 percent self-identified as white, while 27 percent self-identified as an ethnic minority. Before being given a description of a genetic biobank, 36 percent said they'd heard of the term. After being informed, 64 percent said they were willing to participate.

"Overall I found that the students who were more educated, the seniors, were more familiar with the concept of a biobank, and they were also more comfortable with it," Adolphson said. "So we think education plays a role in acceptance."

The research indicates that the medical community should do more to inform people about biobanks, Adolphson said.

Biobanks should educate people to familiarize them with concept

"The biobank community needs to educate people. And they need to use simple language that isn't intimidating, because lack of knowledge is a big barrier," she said. "From this research we saw that younger people are going to be willing to participate, because they are open-minded about the concept of research."

Adolphson's research followed a larger study by Frierson, which surveyed 135 adult Dallas-area residents who also attended one of Frierson's 28 focus groups on the subject of biobanks. That study found that 81 percent of the participants had never heard of biobanking. Before the educational focus groups, 64 percent said they would participate in a biobank. After focus groups, that number significantly jumped to 90 percent, Frierson said.

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SMU is a nationally ranked private university in Dallas founded 100 years ago. Today, SMU enrolls nearly 11,000 students who benefit from the academic opportunities and international reach of seven degree-granting schools. For more information see http://www.smu.edu.

SMU has an uplink facility located on campus for live TV, radio, or online interviews. To speak with an SMU expert or book an SMU guest in the studio, call SMU News & Communications at 214-768-7650.

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Study finds college students willing to donate genetic material to biobanks for research

By Christopher Weaver

All the hype around genetic testing?has?doctors worried they’ve overlooked the most basic — and for now, the most effective — genomic tool at their disposal: A few questions about their patients? families.

As the WSJ reports today, British researchers showed that by systematically collecting detailed family history from patients, they boosted the number of patients at high risk for heart disease detected by standard assessment tools from 12% to 18%. Catching more high-risk patients would mean doctors could better steer preventive care that could avert heart attacks.

“In the genomic revolution, we?ve forgotten basic family history as a tool,” says Donna Arnett, a genetic epidemiologist at the University of Alabama at Birmingham and the president-elect of the American Heart Association. “I practice genetic epidemiology and look for genetic markers, but by far, the most important thing we can do in the prevention of heart disease is to identify family history,” says Arnett, who was not involved in the latest research.

The study, published today in the Annals of Internal Medicine, pushed patients to fill out detailed questionnaires — which asked, for instance, the age relatives suffered heart disease — and went far beyond the checked boxes most patients would recognize from doctors? waiting-room forms.

Other research has verified that certain types of family history, such as a parent who had a heart attack before reaching age 60, increases a patient?s heart disease risk by as much as 50%. Probability remains the best tool most doctors have to work with.

“Genetics was supposed to solve all that,” says Alfred Berg, professor of family medicine at the University of Washington. “You were supposed to do a test, and be able to say, ‘I know for sure’” whether a patient will have a heart attack, he says.

Yet, routine family history collect continues to show “at least as much promise as all this high-tech testing,” adds Berg, who until last year chaired a U.S. Centers for Disease Control and Prevention panel that examined genomic-testing products.

Of eight genetic tests developed in recent years by seven companies, none is so far backed by sufficient evidence that it can accurately predict heart disease, according to a recommendation on the latest heart disease screening technologies issued in late 2010 by the independent CDC panel. (The same is true for most of the diseases and testing products the group has analyzed.)

That high-tech genetics has so far been disappointing in the exam room is in part what?s inspiring researchers to revisit family history — a tool researchers already know works well.

The current research “began with the premise that there?s been a great hike in genetic testing,” says Nadeem Qureshi, the lead author of the NEW? study and a University of Nottingham researcher specializing in applied genetics. “But, family history is a great proxy for both genetics and environment, and it?s not being used in clinical practice.”

Image: iStockphoto

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Doctors Revive the Simplest Genetic Test