Category Archives: Gene Medicine

OXFORD, England--(BUSINESS WIRE)--

Oxford Gene Technology (OGT), provider of innovative clinical genetics and diagnostic solutions to advance molecular medicine, announced today that it has entered into an exclusive licensing agreement with Inven2, the technology transfer office at Oslo University Hospital (OUS) and University of Oslo (UiO), for 12 highly promising colorectal cancer tissue biomarkers.

The exclusive license allows OGT to commercialise any resulting test developed using these biomarkers and to sublicense the markers to other parties. The DNA methylation biomarkers were developed in the laboratory of Professor Ragnhild A. Lothe, in the department of Cancer Prevention, the Norwegian Radium Hospital, part of the Oslo University Hospital.

OGT has validated the results obtained in Professor Lothe’s laboratory showing sensitivity of 93% and specificity of 90% when using tissue biopsies. Further work investigating the efficacy of these biomarkers in blood and faecal samples is ongoing.

“This licensing agreement gives OGT exclusive access to genetic markers which are associated with colorectal cancer.” stated Mike Evans, CEO, of OGT. “We believe that developing tests that include these genetic markers will permit the earlier identification of patients at risk of this disease and allow for more timely diagnosis and clinical interventions.” He added, “The higher specificity of this new panel of markers could provide a more robust screening tool than the tests currently used, while eventually lowering overall costs, which would be of significant benefit for both patients and the clinicians using them.”

“Biomarkers have the potential to greatly improve the accuracy and impact of colorectal cancer screening.” commented Professor Lothe, from the Norwegian Radium Hospital. “We look forward to continuing our collaborative efforts with OGT to develop and validate a future test which will help screen people early for this treatable form of cancer.”

Benedicte Bakke, Business Development Manager at Inven2 AS, Oslo technology transfer office, concluded: “We fully support the collaboration with Oxford Gene Technology to develop a new method of detecting colorectal cancer using these biomarkers. This deal demonstrates the importance of industry and academic collaboration in turning scientific excellence into products that address medical needs.”

-Ends-

Notes for editors:

About Oxford Gene Technology

Founded by Professor Ed Southern, Oxford Gene Technology (OGT) provides innovative clinical genetics and diagnostic solutions to advance molecular medicine. The company has two trading businesses, Biomarker Discovery and Clinical & Genomic Solutions. Biomarker Discovery: OGT delivers tailored biomarker discovery solutions that optimise drug and diagnostic development programmes. With expertise in genomic and proteomic diagnostic biomarkers, OGT provides highly specific customised biomarker panels for cancer and other diseases, both for direct sale and also for collaboration with partner companies. Clinical & Genomic Solutions: OGT’s Genefficiency™ is a unique combination of world-leading platforms, people, processing power and performance synchronised to deliver rapid, high-quality genomic data to customers worldwide. OGT’s CytoSure™ cytogenetics array, labelling and interpretation software products and services provide a complete solution for the detection of chromosomal abnormalities. Together, Genefficiency and CytoSure offer a unique, standardised and integrated solution for cytogenetics research.

For more information on the Company, please visit our website at: http://www.ogt.co.uk

CytoSure: For research use only. Not for use in diagnostic procedures.

About Inven2

Inven2 is the Technology Transfer Office for the University of Oslo and Oslo University Hospital, Norway's largest and leading university and hospital representing pioneering research. Inven2 is the largest contributor in Norway within the field of commercialization of research within Life Science. For more information on Inven2, please visit our website at: http://www.inven2.com

Colorectal cancer

Colorectal cancer (commonly known as colon or bowel cancer) is the 2nd most common cancer in women (behind breast) and the 3rd most common cancer in men (behind prostate and lung). Worldwide, 1.23 million new cases of bowel cancer were diagnosed in 2008. The chance of cure is much better if this cancer is detected at an early stage rather than at a later stage. In the past decade, there has been unprecedented progress in reducing colorectal cancer incidence and death rates; this progress has come about largely through the prevention and early detection of colorectal cancer through screening. However, it is estimated that there could be further improvement ? up to 20,000 fewer deaths from colorectal cancer over the next 20 years ? if just 60% of those eligible took up the invitation for bowel screening (Cancer research UK).

Colorectal cancer screening

In the UK, the current primary screening tool is the faecal occult blood test in England (FOBt; the Faecal immunochemical test, FIT, is used in Scotland). The test is based on determining the presence/absence of blood within a patients stool. Although the test does not diagnose colorectal cancer it directs patients for further evaluation should a positive test be returned to the health care professional. This could ultimately lead to a further examination entailing a colonoscopy. However, the presence of blood in the faeces can be due to a number of factors and so for every 10 people who undergo a colonoscopy 7 will have a ‘normal’ result. The poor positive predictive value of the FOBt leads to unnecessary concern for the patient and a huge cost implication for the NHS.

Consequently, there is a need for a robust preventive strategy that can stratify patients into appropriate screening or surveillance programmes for the early detection of cancer. Internationally, the chosen modality of colorectal cancer screening varies, with cost and availability of diagnostic resources likely to be leading factors in?uencing programme design. The majority of countries, where a national screening programme exists, employ the FOBt (inclusive of Japan and Taiwan). In North America and other European countries, there is ongoing regional colorectal cancer research initiatives/pilot programmes intended to evaluate the potential of implementing national screening programmes.

Recently, there has been growing interest in investigating biomarkers (aberrant hypermethylation of CpG islands) in patients who suffer from colorectal cancer to develop more accurate and patient-friendly tests.

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OGT Signs Licensing Deal for Colorectal Cancer Biomarkers

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb News) – Researchers from the US and Finland have tracked down a new gene contributing to familial breast cancer risk in a DNA damage response pathway that also relies on the well known breast and ovarian cancer gene BRCA1.

Through a candidate gene sequencing and genotyping study involving hundreds of Finnish women with or without breast cancer, including women from more than 100 moderate- or high-risk families, the team found a recurrent mutation in Abraxas, a gene coding for a component in a checkpoint that kicks in when cells face ionizing radiation or other sources of DNA damage.

As they reported online today in Science Translational Medicine, researchers found that the recurrent Abraxas alteration seems to predispose women to inherited breast cancer by interfering with the resulting protein's ability to localize to the nucleus. That compromises the DNA damage pathway, which also contains a protein encoded by BRCA1.

"These findings contribute to the concept of a BRCA-centered tumor suppressor network and provide the identity of Abraxas as a new breast cancer susceptibility gene," co-corresponding authors Robert Winqvist, a clinical geneticist from the University of Oulu, and Roger Greenberg, a University of Pennsylvania cancer biology researcher, and colleagues wrote.

Both BRCA1 and BRCA2 have been linked to hereditary forms of breast and ovarian cancer risk. Despite the importance of these two genes, only around one-fifth of familial breast cancer cases around the world are explained by BRCA1 or BRCA2 germline mutations, authors of the new study explained.

As such, they argued that there may yet be unidentified genes that can significantly influence breast and ovarian cancer risk, along with lower penetrance genes and environmental risk factors.

For the current study, researchers focused on Abraxas, a gene coding for a DNA damage checkpoint component that interacts with BRCA1 and other members of a complex that responds to DNA damage, most often caused by ionizing radiation. Given its central role in this complex, the team speculated that Abraxas mutations might elevate cancer risk.

To test that notion, they screened for alterations in the Abraxas gene in individuals from families enrolled at Oulu University Hospital in northern Finland that had a history of breast cancer or of both breast and ovarian cancer.

Using conformation-sensitive gel electrophoresis and targeted Sanger sequencing of Abraxas exons, the team screened for mutations in one individual each from 125 Finnish families classified as being at high or moderate cancer risk. Of these, 15 individuals had tested positive for mutations in known cancer risk genes such as BRCA1, BRCA2, TP53, or PALB2.

Using this screening approach, the team unearthed several changes to Abraxas in individuals from at-risk families. But just one of these alterations was predicted to produce functional changes to the resulting protein.

That same mutation — a guanine to adenine change at position 1,083 of the Abraxas gene — occurred in individuals from three of the families tested.

And when researchers genotyped 991 more unrelated women with breast cancer and 868 unaffected controls at three informative SNPs in Abraxas, they found another woman with the same mutation. That individual was tested in the unselected group, but also came from a family with a history of breast cancer.

None of the four affected women carried mutations in cancer-related genes such as BRCA1/2, TP53, PALB2 or CDH1. Moreover, the Abraxas mutation appeared to co-segregate with cancer cases in the two families for which additional samples were available.

Because the recurrent mutation leads to an amino acid swap within a predicted nuclear localization signal in the Abraxas protein, researchers suspected that this change might have serious functional consequences.

Indeed, results of their follow-up immunofluorescence experiments in several cell lines suggest that the mutation hinders Abraxas protein localization to the nucleus, affecting its ability to participate in the DNA damage checkpoint.

In addition, they found that cell lines expressing mutant versions of the Abraxas gene showed impaired nuclear localization of BRCA1 and another DNA damage checkpoint component, RAP80, and were more prone to ionizing radiation-induced damage.

The pathway affected by the Abraxas mutation appears to be independent of the DNA repair pathways comprised of BRCA1, BRCA2, PALB2, and other proteins, the study authors noted, suggesting tumors with Abraxas or RAP80 alterations might respond to different treatments than tumors harboring mutations in other BRCA-related pathways.

Excerpt from:
Team IDs Familial Breast Cancer Risk Gene in BRCA1-Containing DNA Damage Response Pathway

WEDNESDAY, Feb. 22 (HealthDay News) -- Scientists have identified a new gene mutation linked to breast cancer.

The mutation is in the Abraxas gene, which interacts with the well-known breast cancer gene BRCA1. Abraxas organizes a large BRCA1 protein-containing complex that is needed to repair DNA damage.

The mutation affects the ability of the Abraxas protein to enter the nucleus and bind to sites adjacent to damaged DNA. This leads to genetic alterations that increase breast cancer risk, Roger Greenberg, an associate professor of cancer biology at the Perelman School of Medicine at the University of Pennsylvania, said in a university news release.

Greenberg and his colleagues screened the members of 125 families in Finland with a history of breast cancer, and found women with both the Abraxas mutation and breast cancer in four families.

The findings, published Feb. 22 in the journal Science Translational Medicine, appears to establish Abraxas as a breast cancer-susceptibility gene, according to the researchers.

It has been known that BRCA genes do not act alone in causing breast cancer, but it has proven difficult for scientists to identify other culprits. In time, this Abraxas mutation may be added to the list of 14 mutations for which women in families with a history of breast cancer can be tested, the researchers said.

More information

The U.S. National Cancer Institute has more about breast-cancer risk.

See original here:
Researchers Spot New Gene Mutation Linked to Breast Cancer

By Rachael Rettner
MyHealthNewsDaily

Scientists have identified a new gene that may increase the risk of breast cancer, according to a new study from Finland.

In the study, mutations in this gene, called Abraxas,were linked to cases of hereditary breast cancer.

Researchers have now identified more than 10 genes that increase breast cancer risk; perhaps the most well-known of these are the BRCA1 and BRCA2 genes. But only about 20 percent of women with a family history of breast cancer have mutations in BRAC1 or BRAC2 — meaning in many cases, it's likely other genes are at work.

The mutation does not appear to be common — it was found in 2.4 percent of families with a history of breast cancer. But importantly, the mutation was not found in anyone without breast cancer in the study.

Because the study was conducted in Finland, future studies will need to investigate how common the mutation is in other countries, said study researcher Roger Greenberg, an associate professor of cancer biology at the University of Pennsylvania School of Medicine.

In the future, women with a family history of breast cancer might be tested for the Abraxas mutation, Greenberg said.

Greenberg and colleagues found the Abraxas mutation in three of 125 breast cancer patients from families with a history of the condition. This gene had been suspected to play a role in breast cancer risk because it interacts with BRCA1.

When the researchers looked at an additional 991 breast cancer patients, they found the Abraxas mutation in one woman, who also turned out to have breast cancer in her family. None of the 868 healthy patients in the study had the Abraxas mutation.

The mutated Abraxas gene prevents cells from fixing damaged DNA, increasing the risk that a cell will become cancerous. The gene may increase the risk of other cancers as well. Indeed, one patient in the study was diagnosed with both breast and endometrial cancer, and some patients with the Abraxas mutation had family members with lung cancer, lip cancer and lymphoma.

More research is needed to know exactly how much of an increase in breast cancer risk the Abraxas mutation brings. But Greenberg noted women in the study with this mutation were diagnosed around the same age as those with BRCA1 and BRCA2 mutations — in their mid-40s.

Women with a mutation in BRCA1 or BRCA2 are about five times more likely to develop breast cancer in their lifetimes compared with women who do not have this mutation, according to the National Cancer Institute.

"Identifying more of these mutations will make it easier for patients to know their risk of developing breast cancer," said Dr. Kristin Byrne, chief of breast imaging at Lenox Hill Hospital in New York City, who was not involved in the study. Such genetic information may even help doctors better diagnose breast cancer. Most patients with the Abraxas mutation in the study had a type of breast cancer called lobular carcinoma, which is harder to detect on a mammogram. Knowing that a patient has this mutation might mean doctors use additional screening methods, such as MRI, Byrne said.

The study is published today (Feb. 22) in the journal Science Translational Medicine.

Follow MyHealthNewsDaily staff writer Rachael Rettner on Twitter@RachaelRettner.

See the original post:
New breast cancer gene discovered

Washington, Feb 22 (ANI): Scientists have discovered that a gene known to control lens development is also vital for the development of neurons responsible for mechanosensory - touch sensation - function.

Neurobiologists of the Max Delbruck Center for Molecular Medicine (MDC) Berlin-Buch found that in mice in which they had removed the c-Maf gene in the nerve cells, touch sensation is impaired.

This similarly applies to human carriers of a mutant c-Maf gene. People with such a mutation suffer already at a young age from cataracts, a clouding of the lens, which typically affects the elderly.

The patients, as demonstrated by Professor Carmen Birchmeier and Dr. Hagen Wende in collaboration with Professor Gary Lewin and Dr. Stefan Lechner, have difficulty holding objects such as a sheet of paper as a consequence of this mutation.

"c-Maf is an important gene for the development of the peripheral nerve cells," Professor Birchmeier, a developmental biologist, commented on the findings of her research group.

The gene controls the development of neurons that detect touch, the mechanosensory neurons. Previously, c-Maf was known as a key regulator of lens development.

Furthermore, the gene is also active in the dorsal root ganglia, an aggregate of nerve cells next to the spinal cord in which the cell bodies of mechanosensory neurons are localized.

The nerve cells form long axons, which terminate in the skin in touch corpuscles or at hair shafts.

These axons detect mechanical stimuli, which in turn are converted into electrical signals and transmitted to the brain. When you stroke your fingers over a surface, its structure triggers high-frequency vibrations in the finger, to which specific touch receptors, the Pacinian corpuscles, respond.

In mice with deactivated c-Maf gene only few Pacinian corpuscles are formed, and moreover these few are not intact.

The mice are therefore unable to recognize high-frequency vibrations. The same is true for a Swiss family with an inherited mutant c-Maf gene.

The consequence is that the affected patients develop cataracts at an early age and have an impaired sense of touch.(ANI)

Read the original post:
'Vision' gene also involved in sensing vibrations

Public release date: 21-Feb-2012
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Contact: Barbara Bachtler
bachtler@mdc-berlin.de
49-309-406-3896
Helmholtz Association of German Research Centres

A gene known to control lens development in mice and humans is also crucial for the development of neurons responsible for mechanosensory function, as neurobiologists of the Max Delbr?ck Center for Molecular Medicine (MDC) Berlin-Buch have now discovered. They found that in mice in which they had removed the c-Maf gene in the nerve cells, touch sensation is impaired. This similarly applies to human carriers of a mutant c-Maf gene. People with such a mutation suffer already at a young age from cataracts, a clouding of the lens which typically affects the elderly. The patients, as demonstrated by Professor Carmen Birchmeier and Dr. Hagen Wende in collaboration with Professor Gary Lewin and Dr. Stefan Lechner, have difficulty holding objects such as a sheet of paper as a consequence of this mutation. (Science Express, 16 February 2012 / Page 1 / 10.1126/science.1214314)*.

Professor Birchmeier, a developmental biologist, commented on the findings of her research group: "c-Maf is an important gene for the development of the peripheral nerve cells." The gene controls the development of neurons that detect touch, the mechanosensory neurons. Previously, c-Maf was known as a key regulator of lens development.

Furthermore, the gene is also active in the dorsal root ganglia, an aggregate of nerve cells next to the spinal cord in which the cell bodies of mechanosensory neurons are localized. The nerve cells form long axons, which terminate in the skin in touch corpuscles or at hair shafts. These axons detect mechanical stimuli, which in turn are converted into electrical signals and transmitted to the brain. When you stroke your fingers over a surface, its structure triggers high-frequency vibrations in the finger, to which specific touch receptors, the Pacinian corpuscles, respond.

In mice with deactivated c-Maf gene only few Pacinian corpuscles are formed, and moreover these few are not intact. The mice are therefore unable to recognize high-frequency vibrations. The same is true for a Swiss family with an inherited mutant c-Maf gene. The consequence is that the affected patients develop cataracts at an early age and have an impaired sense of touch.

###

*The transcription factor c-Maf controls touch receptor development and function
Hagen Wende1, Stefan G. Lechner2, Cyril Cheret1, Steeve Bourane3, Maria E. Kolanczyk1, Alexandre Pattyn4, Katja Reuter1,5, Francis L. Munier6, Patrick Carroll4, Gary R. Lewin2 and Carmen Birchmeier1,*

1Developmental Biology, 2Molecular Physiology, Max-Delbr?ck-Center for Molecular Medicine, Robert-R?ssle-Strasse 10, 13125 Berlin, Germany.
3Molecular Neurobiology Laboratory, Salk Institute, La Jolla, California, USA.
4INSERM U.1051, 80 Rue Augustin Fliche, 34091 Montpellier cedex 05, France.
5New address: University of California, San Francisco, CA 94107.
6Jules Gonin Eye Hospital, Av. de France 15, 1004 Lausanne, Switzerland

A photo can be downloaded from the Internet at: http://www.mdc-berlin.de/de/index.html

Contact:
Barbara Bachtler
Press Department
Max Delbr?ck Center for Molecular Medicine (MDC) Berlin-Buch
in the Helmholtz Association
Robert-R?ssle-Stra?e 10
13125 Berlin
Phone: +49 (0) 30 94 06 - 38 96
Fax: +49 (0) 30 94 06 - 38 33
e-mail: presse@mdc-berlin.de
http://www.mdc-berlin.de/

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The molecular basis of touch sensation