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Category Archives: Genetic Medicine

Genetic Makeup of Tumors More Complex Than Thought

New Research Shows Personalized Treatment for Cancer Not So Simple

WebMD Health News

March 8, 2012 -- A small study that shows a surprising complexity of genetic changes within a single tumor has far-reaching implications for the march toward personalized cancer therapy, according to researchers.

A single biopsy from a tumor might not be sufficient to give a full picture of its genetic landscape, a team from the United Kingdom reports.

When the researchers examined 10 biopsies taken from a single kidney cancer tumor, they found "an extraordinary amount of diversity" in the genetic changes that had taken place in different parts of the tumor.

"There were more differences between biopsies from the same tumor at the genetic level than there were similarities," said researcher Charles Swanton, MD, PhD, from the Cancer Research UK, London Institute, and the University College London, United Kingdom.

The findings, published in the New England Journal of Medicine, were highlighted at a London news conference organized by Cancer Research UK, which funded the study.

The team also found differences in genetic changes between the primary tumor and places in the body where the cancer spread. Similar findings have been documented by other research groups.

But it is the extent of the genetic changes that is surprising, the researchers note.

The findings have far-reaching implications for the efforts currently being directed toward personalized cancer therapy, in which therapy is targeted at genetic changes identified in tumor tissue. Swanton cautioned that "if you take only one biopsy, you could be misled clinically."

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Genetic Makeup of Tumors More Complex Than Thought

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Sequenom, Inc. Reports Financial Results for the Fourth Quarter and Full-Year of 2011

SAN DIEGO, March 7, 2012 /PRNewswire/ -- Sequenom, Inc. (NASDAQ: SQNM - News), a life sciences company providing innovative genetic analysis solutions, today reported total revenues of $15.5 million and $55.9 million for the fourth quarter and full-year of 2011, respectively. Net loss was $22.2 million, or $0.22 per share, and $74.2 million, or $0.75 per share, for the fourth quarter and full-year, respectively.

"2011 was a pivotal year for Sequenom as the Sequenom Center for Molecular Medicine launched its cornerstone MaterniT21(TM) prenatal laboratory-developed test and advanced a number of other important programs," said Harry F. Hixson, Chairman and CEO of Sequenom, Inc. "The positive uptake from the launch of the MaterniT21 LDT and increasing early volumes for testing services since has set the tone for our expected growth and expansion during 2012."

Fourth Quarter 2011 Performance

Fourth quarter revenues of $15.5 million in 2011 increased 13% over revenues of $13.8 million for the comparable period in 2010. Fourth quarter 2011 revenues from the genetic analysis operating segment were essentially flat year-over-year, while revenues from the Sequenom Center for Molecular Medicine (Sequenom CMM) diagnostics services operating segment grew more than 130% in the fourth quarter of 2011 from the prior year period.

Gross margin for the fourth quarter of 2011 was 46% as compared to gross margin of 62% for the fourth quarter of 2010. This difference reflects the increased costs associated with the nationwide launch of the MaterniT21(TM) LDT during the fourth quarter, in October of 2011.

Total operating expenses for the fourth quarter of 2011 were $29.0 million, as compared to total operating expenses of $30.7 million for the fourth quarter of 2010. Research and development expenses increased $2.6 million to $13.1 million for the fourth quarter of 2011, a change associated primarily with higher labor costs and an increase in consumables associated with additional T21 clinical studies. Selling and marketing expenses increased by $1.1 million to $9.1 million for the fourth quarter of 2011, resulting primarily from higher labor costs associated with the expansion of the Sequenom CMM sales force and the CLIA laboratory. Total stock-based compensation expense was $2.8 million for the fourth quarter of 2011, consistent with the $2.8 million in stock-based compensation recorded for the fourth quarter of 2010.

"Our 2011 year end results are demonstrative of our commitment to delivering on the priorities set early in the year. We met the major goals of our strategic plan, managing costs while establishing the groundwork for continued commercial expansion," said Paul V. Maier, Sequenom's CFO. "We have set new goals and are focusing on accelerating our growth and expansion in a number of important areas to maintain this positive trajectory in 2012. As a result of our recent financing, we are well capitalized to implement our expansion plans."

Full-Year 2011 Performance

The Company reported revenues of $55.9 million for the full-year 2011, an increase of 18% compared to revenues of $47.5 million for the full-year 2010. The Company will continue to account for product revenue from our diagnostic testing services on a cash basis until further experience is gained and additional internal and third party controls are established that will allow a reasonable estimate of collectable amounts to be made before moving to the accrual method of accounting.

Net loss for the full-year 2011 was $74.2 million or $0.75 per share, as compared to net loss of $120.8 million, or $1.69 per share for 2010.

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Sequenom, Inc. Reports Financial Results for the Fourth Quarter and Full-Year of 2011

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Tumor's Genetic Identity Not Revealed By Single Biopsy

Featured Article Academic Journal Main Category: Cancer / Oncology Also Included In: Genetics;Urology / Nephrology Article Date: 08 Mar 2012 - 2:00 PST

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Professor Peter Johnson, chief clinician at Cancer Research UK said in a statement that the study highlights "important differences that exist within tumours and suggest a way to improve the success rate of personalised cancer medicines".

The lead author of the study is Professor Charles Swanton, who works at Cancer Research UK's London Research Institute and the UCL Cancer Institute. He and his colleagues analyzed the genetic variation among different regions of the same cancer tumor, using samples donated by patients with advanced kidney cancer.

This is the first time genome-wide analysis has been used for this.

Swanton told the press that scientists have known for a while that a tumor is a "patchwork" of faults, but this is the first time, thanks to cutting edge genomic sequencing technology, scientists have been able to map the genetic landscape of a tumor in such "exquisite detail".

For the study, he and his colleagues compared the genetic variations in samples taken from different regions of four separate kidney tumors. They also took samples from other organs the cancer had spread to.

They found that about two thirds of the genetic faults in a tumor were not repeated across other biopsy samples from the same tumor.

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Scientists unlock genetic code for gorillas – and show the human link

Despite the evolutionary split with gorillas around 10 million years ago, we still share a remarkable number of genes with the great ape. Photo: AFP

HUMANS and gorillas last shared a common ancestor 10 million years ago, according to an analysis of the first full sequence of the gorilla genome. The gorilla is the last of the living great apes - humans, chimpanzees, gorillas and orangutans - to have its complete genetic code catalogued.

Scientists, led by researchers from the Wellcome Trust Sanger Institute near Cambridge, England, and Baylor College of Medicine in Houston, Texas, also found that 15 per cent of the gorilla's genetic code is closer between humans and gorillas than it is between humans and chimpanzees, our closest animal relative. The genomes of all three species are, in any case, highly similar: humans and chimpanzees share more than 98 per cent of their genes, while humans and gorillas share more than 96 per cent.

The genetic sequence was taken from a female western lowland gorilla named Kamilah and published in the science journal Nature.

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''Gorillas are an interesting animal in their right but the main reason they are of particular interest is because of their evolutionary closeness to us,'' said Aylwyn Scally, an author of the research from the institute. ''They're our second-closest evolutionary cousins after chimpanzees and knowing the content of the gorilla genome enables us to say quite a lot about an important period in human evolution when we were diverging from chimpanzees.''

Studying the gorilla genome suggests that the divergence of gorillas from the common ancestor of humans and chimpanzees happened around 10 million years ago. Humans and chimpanzees last shared a common ancestor around 6 million years ago. Eastern and western gorillas split some time in the last million years.

One curious find was the evolution of genes associated with hearing, which seem very similar between humans and gorillas. ''Scientists had suggested that the rapid evolution of human hearing genes was linked to the evolution of language,'' said Chris Tyler-Smith, senior author from the Wellcome Trust Sanger Institute. ''Our results cast doubt on this, as hearing genes have evolved in gorillas at a similar rate to those in humans.''

Guardian News & Media

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Scientists unlock genetic code for gorillas - and show the human link

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New approach for treating genetic muscle wasting disease shows promise in mice

ScienceDaily (Mar. 6, 2012) Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that a drug called fasudil can extend the average lifespan of mice with Spinal muscular atrophy (SMA) from 30.5 days to more than 300 days.

The study is published March 6 in BioMed Central's open access journal BMC Medicine, by Dr. Rashmi Kothary, his graduate student Melissa Bowerman and others.

SMA is the leading inherited cause of death in infants and toddlers, affecting approximately 25,000 people in Canada and the United States. Scientists have known for many years that this disease is caused by inherited mutations in a gene called survival motor neuron 1 (SMN1). Most early attempts at developing treatments for SMA focused on replacing this gene, however, Dr. Kothary's group has focused on understanding and targeting the physiological defects present in certain nerve cells with SMA. These cells have a weakened internal scaffold, which hinders their ability to connect with muscle cells and contributes to the severe muscle weakness associated with SMA.

Two years ago, Dr. Kothary and his team showed that a laboratory compound called Y-27632, which targets an enzyme that is involved in maintaining the cellular scaffold, could greatly increase lifespan in a certain mouse model of SMA. In this new study, they tested a compound called fasudil, which is similar to Y-27632, but has the advantage that it has already been approved for human clinical trials for other conditions, meaning that it could possibly be re-targeted to use in clinical trials for SMA more quickly than a completely new drug.

The Kothary group found that fasudil-treated SMA mice survived for an average of more than 300 days, compared to just 30.5 days for untreated SMA mice. However, the average lifespan of fasudil-treated SMA mice was still only about half as long as that of normal mice. Fasudil-treated SMA mice also had larger muscle fibres than the untreated SMA mice, and they behaved more normally with respect to grooming and other regular activities. However, they did not perform any better in strength and balance tests and they still had low numbers of motor neurons, which is typical for SMA.

"Our study is important because it expands a new area of research into SMA, which could lead to the development of new treatments," said Melissa Bowerman. "Of course, this research is still at the early stages and although we found that fasudil could significantly increase lifespan in a mouse model of SMA, this drug couldn't correct all the problems in these mice, and it had serious side effects when used at higher doses."

"A number of groups are working to develop fasudil-like compounds with fewer side effects, and we're very excited to see how these perform in our models, and hopefully in human SMA clinical trials some day," said Dr. Kothary "However, we continue to believe that SMA is a disease that will best be addressed using multiple strategies together, including nutrition and possibly drug, cell and gene therapies."

"Dr. Kothary's group has been a pioneer in SMA research, both in characterizing the impact of SMA on tissues and organs, and in discovering a novel therapeutic pathway involving enzymes that target the cell scaffold," said Dr. Alex MacKenzie, an expert in SMA at CHEO Research Institute and the University of Ottawa, who was not involved in the study. "It has to be said that this approach was not intuitively obvious and Dr. Kothary and his team are to be commended for their creativity in its discovery. It represents an important addition to the armamentarium of experimental SMA treatments."

Although fasudil has been approved by the U.S. Food and Drug Administration for use in certain adult human clinical trials, it is still considered experimental, and has not been approved for the treatment of any human condition in the United States or Canada. Individuals who are interested in experimental therapies should discuss this with their health care professional.

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New approach for treating genetic muscle wasting disease shows promise in mice

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DNA Sequencing To Identify Genetic Flaws Responsible For Rare Diseases

Editor's Choice Main Category: Genetics Article Date: 06 Mar 2012 - 9:00 PST

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At the university's Genomics and Pathology Services (GPS), the researchers will sequence the patient's DNA at no cost to the advocacy groups or to patients.

Jimmy Lin, Ph.D., research instructor in pathology and immunology, explained:

Rare genetic diseases range from Neimann-Pick, a metabolic disorder which can occur in infancy, to Huntington's disease, a neurodegenrative disorder diagnosed in adulthood.

DNA sequencing is currently faster, cheaper and more accurate, as a result of advances in technology in recent years. For individuals suffering with rare diseases, researchers are now able to use DNA sequencing in order to identify the genetic flaw or flaws most likely responsible for their disease.

It is believed that several rare diseases are caused by genetic mutations in the small part of the DNA that codes for proteins, collectively known as the exome. The researchers will sequence this part of the DNA.

In early 2011, the genetic causes for 39 rare diseases were identified using exome sequencing, and according to scientists, this is just the start.

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