Archive for the ‘Gene Therapy Research’ Category

Advances in molecular biology and human genetics, coupled with the completion of the Human Genome Project and the increasing power of quantitative genetics to identify disease susceptibility genes, are contributing to a revolution in the practice of medicine. In the 21st century, practicing physicians will focus more on defining genetically determined disease susceptibility in individual patients. This strategy will be used to prevent, modify, and treat a wide array of common disorders that have unique heritable risk factors such as hypertension, obesity, diabetes, arthrosclerosis, and cancer.

The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established January 1, 1999 under the leadership of its founding Director, Alfred L. George, Jr., M.D.,and an accelerated plan is underway to establish a core group of faculty, and develop both research and clinical programs. Equipped with state-of-the-art research tools and facilities, our faculty is advancing knowledge of the common genetic determinants of cancer, epilepsy, congenital gastrointestinal disorders, and heart disease. The Division supports the operation of high-throughput DNA Sequencing and Allele-Typing core facilities that are available to other Vanderbilt University faculty and researchers from other institutions. We also work jointly with the Vanderbilt-Ingram Cancer Center to support a Family Cancer Risk Service for counseling patients and their families who have an inherited predisposition to various malignancies.

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PUBLIC RELEASE DATE:

30-Jan-2014

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego

In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features.

Over several years, working with scientific colleagues in parts of the world with relatively high rates of consanguinity or common ancestry, UC San Diego researchers recruited a cohort of more than 50 families displaying autosomal recessive HSP the largest such cohort assembled to date. The scientists analyzed roughly 100 patients from this cohort using a technique called whole exome sequencing, which focuses on mapping key portions of the genome. They identified a genetic mutation in almost 75 percent of the cases, half of which were in genes never before linked with human disease.

"After uncovering so many novel genetic bases of HSP, we were in the unique position to investigate how these causes link together. We were able to generate an 'HSP-ome,' a map that included all of the new and previously described causes," said senior author Joseph G. Gleeson, MD, Howard Hughes Medical Institute investigator, professor in the UC San Diego departments of Neurosciences and Pediatrics and at Rady Children's Hospital-San Diego, a research affiliate of UC San Diego.

The HSP-ome helped researchers locate and validate even more genetic mutations in their patients, and indicated key biological pathways underlying HSP. The researchers were also interested in understanding how HSP relates to other groups of disorders. They found that the HSP-ome links HSP to other more common neurodegenerative disorders, such as Alzheimer's disease and amyotrophic lateral sclerosis.

"Knowing the biological processes underlying neurodegenerative disorders is seminal to driving future scientific studies that aim to uncover the exact mechanisms implicated in common neurodegenerative diseases, and to indicate the path toward development of effective treatments," said Gleeson.

"I believe this study is important for the neurodegenerative research community," said co-lead author Gaia Novarino, PhD, a post-doctoral scholar in Gleeson's lab. "But more broadly, it offers an illustrative example of how, by utilizing genomics in specific patient populations, and then building an 'interactome,' we greatly expand knowledge around unknown causes of disease."

"This is very exciting since identifying the biological processes in neurological disorders is the first step toward the development of new treatments," agreed co-lead author Ali G. Fenstermaker. "We identified several promising targets for development of new treatments."

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Scientists discover new genetic forms of neurodegeneration

In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features.

Over several years, working with scientific colleagues in parts of the world with relatively high rates of consanguinity or common ancestry, UC San Diego researchers recruited a cohort of more than 50 families displaying autosomal recessive HSP -- the largest such cohort assembled to date. The scientists analyzed roughly 100 patients from this cohort using a technique called whole exome sequencing, which focuses on mapping key portions of the genome. They identified a genetic mutation in almost 75 percent of the cases, half of which were in genes never before linked with human disease.

"After uncovering so many novel genetic bases of HSP, we were in the unique position to investigate how these causes link together. We were able to generate an 'HSP-ome,' a map that included all of the new and previously described causes," said senior author Joseph G. Gleeson, MD, Howard Hughes Medical Institute investigator, professor in the UC San Diego departments of Neurosciences and Pediatrics and at Rady Children's Hospital-San Diego, a research affiliate of UC San Diego.

The HSP-ome helped researchers locate and validate even more genetic mutations in their patients, and indicated key biological pathways underlying HSP. The researchers were also interested in understanding how HSP relates to other groups of disorders. They found that the HSP-ome links HSP to other more common neurodegenerative disorders, such as Alzheimer's disease and amyotrophic lateral sclerosis.

"Knowing the biological processes underlying neurodegenerative disorders is seminal to driving future scientific studies that aim to uncover the exact mechanisms implicated in common neurodegenerative diseases, and to indicate the path toward development of effective treatments," said Gleeson.

"I believe this study is important for the neurodegenerative research community," said co-lead author Gaia Novarino, PhD, a post-doctoral scholar in Gleeson's lab. "But more broadly, it offers an illustrative example of how, by utilizing genomics in specific patient populations, and then building an 'interactome,' we greatly expand knowledge around unknown causes of disease."

"This is very exciting since identifying the biological processes in neurological disorders is the first step toward the development of new treatments," agreed co-lead author Ali G. Fenstermaker. "We identified several promising targets for development of new treatments."

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The above story is based on materials provided by University of California, San Diego Health Sciences. Note: Materials may be edited for content and length.

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New genetic forms of neurodegeneration discovered

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Hagmann Report On Full Spectrum Survival How Tattoos Change Genetics 10 14 2013
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In 2006 I helped my 25-year-old son Jamal locate his biological families. I hoped this reunion would help him overcome some of the challenges he was wrestling with on his path to adulthood. I was thrilled when the families of both his white mother and his black father welcomed him. But I was unprepared for the discovery of how much he had in common with his birth parents: not just appearance, but also many personality traits, talents and problems.

When I adopted in 1981, I believed -- like many social scientists and adoption professionals at that time -- that nurture was everything, each infant a blank slate awaiting parental inscription. Even when Jamal was a young child, I recognized that this idea was too simple, that my son had many attributes different from those of anyone else in my family. Still, I was surprised by these reunion revelations.

The adoption theory that I'd absorbed over the years never mentioned genetic heritage. Jamal's difficulty finding his way as a young adult, I was told, might stem from a number of psychological factors. First was the loss of a birth mother with whom he had bonded in utero -- a "primal wound" that supposedly made it difficult for him to bond with an adoptive mother. This idea never resonated with me, for we always had a close connection, with a lot of emotional and verbal sharing. Even in our most troubled times, we never lost contact, and he often confided in me. If anything, I saw him as too close to me, his only parent.

More compelling was the idea that he had been affected by the fetal environment of a stressed teenage birth mother, who probably drank and smoked. This, possibly combined with a weak sense of self deriving from a loss of ethnicity and family history, especially prevalent in the transracially adopted, might help to explain why he chose a life outside the mainstream, one that for many years involved heavy marijuana and alcohol use.

None of these theories, however, prepared me for the shock of finding that my son's birth mother and father -- out of touch with each other for 25 years -- had both struggled with drug addiction throughout their lives. I was especially surprised because in my phone conversations and a visit with them, I had seen that they (like Jamal) were charming and intelligent people. I learned, however, that substance abuse had taken a toll on their lives, especially the father's.

Reunion has helped Jamal secure a stronger sense of self, especially since he found mixed-race heritage on both sides. His mother married another black man and had three more biracial children, and his father's extended family is multiracial as well. But reunion also added many complications to his life as he has tried to reconcile the heritage of what he calls his "three families." Only gradually, through moving to Louisiana for six months and living first with his birth mother and then with his birth father, did Jamal acknowledge their shared substance abuse problems. This realization led him for the first time to enter a recovery program, something his birth parents have never done. He sought to overcome the negative part of his birth heritage so that he could build on the positive. Recently, I asked Jamal how he was different from his birth father.

"Not a heck of a lot," he replied. "But I have better tools."

Jamal's reunion experience led me to undertake my own search, a quest to understand genetics and how they might impact adoption. Perhaps I hoped to find that nature is everything, and that I could let go of my parental guilt for his problems. As a social scientist with little biological education, I began by looking at science journalism, then turned to the original research. I found that genetics alone could explain neither Jamal's positive behavior nor his addiction; genes provide only probabilistic propensities, not predetermined programming. They provide probabilities for behavior and risk factors for disease but do not indicate whether any individual will sustain a behavior or succumb to a particular mental or physical disorder, or how severe the disease might be.

I found other research that surprised me, especially an interdisciplinary field that I'd never heard of, called behavioral genetics. Though it's not focused on adoption per se, many of its findings are based on the study of adoptees. While I had not known about this field by name, I had heard of some of its more infamous practitioners, like those at the turn of the century who advocated selective breeding and forced sterilization. I also knew about a few more recent behavioral geneticists who published controversial studies of racial differences in IQ. But now I discovered that behavioral genetics had gained legitimacy as a science for its studies on individual differences.

Behavioral genetics tries to explain how much of the variation among individuals' cognitive and psychological traits can be attributed to genetic heritage and how much is due to the environment. Their major methodology is a natural experiment that separates genetic heritage and environment by comparing the similarities and differences among adoptees, adoptive parents, and biological parents, and also between biological and adoptive siblings. In addition, behavioral genetics studies identical twins raised apart. In studies over a number of years in many different countries, researchers concur that identical twins separated at birth and adopted into different families, compared with identical twins raised together by their biological parents, are still very similar on a number of measures of personality, temperament, intelligence, interests and susceptibility to physical and mental disease. Additionally, identical twins raised apart are more similar than fraternal twins raised together.

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16 hours ago A Greater mouse-eared bat in Frankfurt, Germany, on January 17, 2014

Europe's bat population recovered by more than 40 percent between 1993 and 2011 after decades of decline, according to a survey published by the European Environment Agency (EEA) on Thursday.

In their most comprehensive study yet, surveyors fanned out across nine countries to count numbers at 6,000 sites used for hibernation by 16 of Europe's 45 bat species.

The bat population increased by 43 percent overall from 1993 to 2011, "with a relatively stable trend since 2003," the Copenhagen-based agency said.

Two species, the whiskered bat (Myotis mystacinus) and Brandt's bat (M. brandtii), showed strong growth, and eight species had moderate gains.

Three species were stable and the picture for two species was unclear. There was a decline in only one species, the grey long-haired bat (Plecotus austriacus).

Bat populations in Europe plummeted in the latter half of the 20th century, their habitat wrecked by intensive agriculture, deliberate destruction of their roosts or use of toxic chemicals to treat timbers in old buildings.

Many of the species with rising populations remain rare and vulnerable, with climate change an emerging threat, the EEA said.

"It is extremely encouraging to see bat populations increasing after massive historic declines," the agency's executive director, Hans Bruyninckx, said.

"It suggests that targeted conservation policies over the last years have been successful. But many bat species are still endangered, so preserving their habitats is still an important priority."

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January 30, 2014

Image Caption: A single gene in honey bees separates the queens from the workers. Credit: Zachary Huang

April Flowers for redOrbit.com Your Universe Online

In a hive of honey bees, the jobs of queen and worker are drastically different. A new study from Michigan State University and Wayne State University reveals, however, that only a single gene separates the two. The findings, published in Biology Letters, show this gene not only determines leg and wing development, but it also plays a crucial role in the evolution of bees ability to carry pollen.

This gene is critical in making the hind legs of workers distinct so they have the physical features necessary to carry pollen, said Zachary Huang, MSU entomologist. Other studies have shed some light on this genes role in this realm, but our team examined in great detail how the modifications take place.

The gene is called Ultrabithorax, or Ubx, and it allows workers to develop a smooth spot on the hind legs where the pollen baskets are located. The gene also promotes the formation of 11 neatly spaced bristles on another part of the legs. This section is known as the pollen comb.

Another part of the hind legs affected by the Ubx gene is known as the pollen press. It is a protrusion that helps pack and transport pollen back to the hive.

Ubx promotes the development of these features on worker bees, but not on the queens. The team confirmed this by isolating and silencing Ubx which made the pollen baskets, specialized leg features used to collect and transport pollen, disappear completely. The team also saw an inhibition of the growth of pollen combs, as well as a reduction in the size of pollen presses.

Bumble bees are in the same family as honey bees, but there are differences. Bumble bee queens, for example, have pollen baskets similar to workers. In bumble bees, Ubx played a similar role in modifying hind legs because the gene is more highly expressed in hind legs than it is in front and mid legs.

There are more than 300 species of bees, other than the honey bee, in Michigan alone including solitary leaf cutter bees, communal sweat bees and social bumble bees.

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Ultrabithorax Gene Creates Differences In Honey Bee Queens And Workers

Can Animals Do Human Things Better Than Humans?
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1/22/14 Cells and Genetics p1/2
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Mathematical Models in Population Genetics I
Shishi Luo, Duke University Evolutionary Biology Boot Camp http://simons.berkeley.edu/talks/steven-evans-anand-bhaskar-shishi-luo-2014-01-21a.

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Mathematical Models in Population Genetics III
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Independent Assortment and Linked Genes
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Career Profile: Laboratory Manager, Crop Breeding and Genetics
Meet Chris Grainger, Laboratory Manager at the Univeristy of Guelph.

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A University of Colorado Cancer Center study published today in the International Journal of Radiation Oncology Biology and Physics shows that patients taking crizotinib for ALK+ non-small cell lung cancer may safely and durably use up to three courses of targeted radiation therapy to eradicate pockets of drug-resistant disease. Eliminating these pockets of resistant disease allows patients to continue treating the overall condition with crizotinib, leading to improved 2-year survival rates compared with patients forced to discontinue the drug sooner.

ALK+ lung cancers are caused by the aberrant reactivation of the ALK gene, and comprise about 3-5 percent of all cases of non-small cell lung cancer. In these cases, clinical studies have shown that the drug crizotinib is highly effective and the drug was rapidly approved by the FDA in 2011. Unfortunately, at around 8 -- 10 months after the initiation of treatment, the cancer tends to acquire resistance to crizotinib. Earlier work at CU Cancer Center and elsewhere showed that resistance occurs through a change in the biology of the cancer. At this point, patients have generally been switched to another drug.

However, it may not be the entire cancer that develops resistance to the drug. Instead, as the change in biology is an evolutionary event only pockets of the cancer may become immune. Previous work from the CU Cancer Center described the use of a single course of radiotherapeutic local ablative therapy to eliminate these isolated pockets of resistant disease.

"The traditional paradigm for cancer patients has been to switch your systemic therapy to another agent if you progress, even though a majority of your cancer may still be controlled by the original drug. But what if we could use targeted radiation therapy to eliminate those sites of errant disease so a person could stay on a specific drug longer?" says Gregory Gan, MD, PhD, a chief resident in the University of Colorado School of Medicine Department of Radiation Oncology and the paper's first author. "Using stereotactic body radiotherapy, we can ablate these limited sites of progressive disease so patients can continue on the drug they are on -- a technique we refer to as 'weeding the garden'."

The current study reports median two-year follow-up results of up to three courses of local ablative therapy to control resistant, progressive disease in ALK+ lung cancer patients.

Specifically, the group followed the experience of 38 ALK+ non-small cell lung cancer patients. Of these 38 patients, 33 progressed during the study, meaning the disease gained resistance to crizotinib. Fourteen of those patients progressed in a way that allowed for local ablative therapy. These eligible patients received 1-3 rounds of radiotherapeutic local ablative therapy to "weed the garden" of resistant pockets of disease. Examples of sites that were treated included metastases to the lung, liver, abdominal lymph nodes, and adrenal glands.

"With this long follow up, we can now see that on average it took 5.5 months from the first use of local ablative therapy until further evidence of progression on crizotinib occurred -- a duration of disease control that is highly competitive with what any new drug-based therapy might be expected to achieve in the acquired resistance setting. In addition, we found that you can use radiotherapeutic local ablative therapy in the same patient multiple times with excellent control of these sites of resistant cancer and minimal to no side-effects. By keeping these patients on crizotinib for longer periods of time and/or because of the direct effect of the local ablative therapy, there was a suggestion that patients may also being enjoying a significant survival benefit," says Ross Camidge, MD, PhD, director of the Thoracic Oncology Clinical Program at the CU Cancer Center and the senior author of the study. However, Camidge cautions that this apparent overall survival benefit will need to be studied formally in a prospective clinical trial currently being established at the University of Colorado.

Among the 38 ALK+ patients, the overall survival at 2 years was 57 percent, but among those who stayed on crizotinib for more than a year it was 72 percent compared to 12 percent in those who discontinued crizotinib earlier.

"Not only does this study raise very important questions, but the pulling together of all the different analyses is part of a string of impressive achievements by Dr. Gan, who is emerging as a young leader in the field of radiation oncology," says Brian Kavanagh, MD, MPH, CU Cancer Center investigator and vice-chair of radiation oncology at the University of Colorado School of Medicine.

"We've been using radiotherapeutic local ablative therapy to control pockets of drug-resistant cancer not just in ALK+ lung cancer patients but in other types of cancer in patients on targeted therapy or chemotherapy. Radiotherapy has shown great success controlling these sites of resistant disease but more work needs to be done to fully determine when it is best to use local therapies versus a change in systemic therapy. The next step will hopefully be a prospective clinical study," says Dr. Kavanagh.

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'Weeding the garden' lets anaplastic lymphoma kinase-positive lung cancer patients continue crizotinib

1 hour ago

While grain yield is economically important in field corn production, there are other metrics more important in sweet corn grown for processing, said Marty Williams, a USDA-ARS ecologist and University of Illinois crop sciences researcher.

In a study recently published in Field Crops Research, Williams questioned whether the crop yield responses that have been previously reported in sweet corn research are actually helpful to the industry.

"What has been done in the past is analogous to predicting someone's height based on their shoe size, as opposed to actually measuring their height," Williams said.

After collecting and studying sweet corn data representing 31 hybrids across 22 locations in Illinois over an 8-year period, Williams said he sees a disconnect in what researchers are measuring in the field and what processors and seed companies need to know in order to make improved production decisions.

In other words, Williams said researchers need to start speaking the same language as the sweet corn industry.

Williams explained that the two variables that affect processor decisions most include recovery (percentage of kernels that can be canned or bagged from the green-ear mass) and case production (cases per acre of processed kernels).

However, he added that nearly all historic and recent field research in processing sweet corn reports neither of these variables, regardless of whether the studies pertained to plant pathology, fertility management, pest control, or sweet corn breeding and genetics.

"Ear number or green-ear mass are often the only crop responses reported in research on field productivity of processing sweet corn. Sometimes, other crop responses are reported, including plant traits such as height or canopy density, or ear traits such as ear length or ear width," he said.

In his study, Williams looked for relationships between processor variables and 17 crop traits (5 plant traits, 8 ear traits, and 4 yield traits). He determined that none of the crop traits predicted recovery.

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Better sweet corn research, better production

1 hour ago MSU scientists have identified how a single gene in honey bees separates the queens from the workers. Credit: Courtesy of Zachary Huang

Scientists have identified how a single gene in honey bees separates the queens from the workers.

A team of scientists from Michigan State University and Wayne State University unraveled the gene's inner workings and published the results in the current issue of Biology Letters. The gene, which is responsible for leg and wing development, plays a crucial role in the evolution of bees' ability to carry pollen.

"This gene is critical in making the hind legs of workers distinct so they have the physical features necessary to carry pollen," said Zachary Huang, MSU entomologist. "Other studies have shed some light on this gene's role in this realm, but our team examined in great detail how the modifications take place."

The gene in question is Ultrabithorax, or Ubx. Specifically, the gene allows workers to develop a smooth spot on their hind legs that hosts their pollen baskets. On another part of their legs, the gene promotes the formation of 11 neatly spaced bristles, a section known as the "pollen comb."

The gene also promotes the development of a pollen press, a protrusion also found on hind legs, that helps pack and transport pollen back to the hive.

While workers have these distinct features, queens do not. The research team was able to confirm this by isolating and silencing Ubx, the target gene. This made the pollen baskets, specialized leg features used to collect and transport pollen, completely disappear. It also inhibited the growth of pollen combs and reduced the size of pollen presses.

In bumble bees, which are in the same family as honey bees, queens have pollen baskets similar to workers. In this species, Ubx played a similar role in modifying hind legs because the gene is more highly expressed in hind legs compared to front and mid legs.

Besides honey bees, which aren't native to North America, there are more than 300 species of other bees in Michigan alone. These include solitary leaf cutter bees, communal sweat bees and social bumble bees.

"The pollen baskets are much less elaborate or completely absent in bees that are less socially complex," Huang said. "We conclude that the evolution of pollen baskets is a major innovation among social insects and is tied directly to more-complex social behaviors."

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Single gene separates queen from workers

A group of researchers from Mexico's General Hospital, Health Secretariat, Medicine Faculty and the Institute of Cellular Physiology of the National Autonomous University of Mexico (UNAM) identified a therapeutic target for cervix cancer: gene CDKN3.

The researched performed at the lab indicates that when this gene is blocked in culture cancerous cells, the neoplastic proliferation greatly diminishes.

Jaime Berumen Campos, who coordinates the research said that this gene is blocked by a "siRNA" (small interference RNA), molecular technique applied to several strands of cervix cancer cells making them incapable of proliferating, and confirmed that tumors in mice stopped growing.

To achieve this, researchers first analyzed eight thousand and 638 genes in 43 samples of cervix cancer cells, identifies six suspect of making cervical cancer grow.

One of these genes is CDKN3, which apparently is the most important, given that its activity was highly elevated in most of explored cancers.

Later, clinical evolution of 42 patients was studied during five years, and was found that when CDKN3 is very active, patients have little survival, Berumen Campos explained, who because of this research won the Award of Medical Research "Dr. Jorge Rosenkranz" 2013, in the clinical area.

"70 per cent of the patients with a high activity of this gene, died less than two years of developing the illness, meanwhile only 15 per cent of patients with a low activity of this indicator died while the study was being performed."

Experimentation in culture cells and observation in women with cancer, indicate that this gene is linked to the aggressiveness and malignant growth of the tumor. Besides, the findings indicate that this gene could be a good therapeutic target, meaning, that overriding its primary function (promoting cellular growth), it would be possible to diminish the proliferation of tumors in women.

Cervical cancer is treated by surgery, chemo and radiotherapy or a combination of all the above, according to the clinical stage. The success and survival diminish as the disease advances.

The percentage of women who survive five years is reduced by 93 percent in the first stage, and to 15 percent in the fourth stage. Contrary to other types of cancer, for which drugs against specific molecular targets exist, this have not been developed for cervical cancer.

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New technique developed to control cervical cancer

Anne Roberts of Moorhead

Anne Roberts of Moorhead talks about her decision to have her breasts removed after being diagnosed with the gene that made her a high risk for developing breast cancer. David Samson / The Forum

Sanford medical lab scientist Tylise Graff looks at tumor tissue from a breast cancer sample which helps determine the course of treatment. David Samson / The Forum

Would you consider genetic testing?

FARGO Anne Roberts considers herself a breast cancer previvor.

After learning that she inherited a gene that placed her at very high risk and knowing her family history was riddled with cancer she opted for preventive surgery, a double mastectomy.

My surgeon explained to me it wasnt a matter of if, she said. I was going to get cancer. It was a question of when.

Roberts was 55 when she had the surgery four years ago the same age her older sister first developed breast cancer, and the age of her paternal grandmother when she died of cancer.

Genetic testing revealed the Moorhead woman had an 87 percent chance of developing breast cancer. Preemptive surgery reduced her risk by 90 percent.

Now, the kind of genetic screening and counseling that has long been common in treating cancer and assessing prenatal or childhood risk of inheriting disease is spreading to primary care at Sanford Health clinics under a new $125 million initiative in genetic medicine.

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Genetic screening spreads to primary care at Sanford clinics

FARGO Medical science has developed genetic tests for 2,000 diseases that are available for clinical use.

Some, such as prenatal screens to test for Down syndrome and other congenital disorders, have been in use for years.

But in many cases, experts said, limited scientific information is available to evaluate tests, and medical providers and payers are struggling with how to navigate an expanding field of medicine.

Health insurers often are the gatekeepers in deciding whether to pay for genetic tests. Early diagnosis and treatment can improve patients outcomes and be more cost-effective, but payers want scientific guidance.

Theyre struggling with this too, is my belief, said Dr. Claire Neely, medical director of the Institute for Clinical Systems Improvement, a Minnesota group that advises member health systems and insurers.

They want to do the right thing for their patients, she said.

Sanford Healths recently announced initiative to bring genetic medicine and counseling into the primary care setting, in combination with research and education, should generate useful information, Neely said.

I would call it increasing genetic literacy in primary care, she said. I think that is an important piece.

Experts, including those with the Centers for Disease Control and Prevention, say valid and useful tests are available for certain hereditary breast and ovarian cancer, as well as a hereditary form of colon cancer, two well-established examples.

But those tests are not widely used, partly because of limited research on how to get useful tests in the clinic, and others have only limited scientific information to evaluate their effectiveness, a CDC report concluded.

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Health insurers struggle with whether to pay for genetic tests

Boris Shraiman - Statistical genetics and evolution I
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