Webinar Wednesday,March22, 2017 at 1:00 PM EDT Gaining Network Status, Demonstrating Clinical Utility, Marketing to Cash Buyers, and Other Essentials

One of healthcares unheralded stories is good news for molecular and genetic testing laboratories, along with hospital/health system labs that already have instruments capable of performing these tests! Day-by-day, ever more physicians begin to include elements of precision medicine in their clinical practice, thus requiring them to use molecular and genetic tests.

Physician demand for these tests is robust and will continue to increase for a powerful reason: patients want the benefits from a diagnostic test that delivers a more accurate diagnosis while pointing the doctor to the right therapy that will benefit the patient while minimizing side effects.

These are just two reasons why it is imperative that every clinical laboratory and pathology group have a strategy for how it will serve precision medicine. Tests in support of precision medicine will be the fastest-growing sector of laboratory medicine for years to come. Thats why labs need a strategy that addresses these elements:

1) Which type of precision medicine tests will the lab emphasize?

2) Can it run these tests on existing lab analyzers, or will it need to acquire new instruments?

3) Are there existing physician-champions of precision medicine in the labs service area who are respected as clinical leaders and willing to share their patient care successes with colleagues?

4) Can the lab profitably collaborate/partner with labs and companies that already have proven assays, robust informatics capabilities, and similar tools needed to provide tests that support precision medicine?

5) Are there payers in the labs regional market that have existing coverage guidelines for the types of precision medicine tests the lab wants to provide? Are the targeted types of precision medicine tests covered by existing managed care contracts?

These important questions about strategy will be among the topics to be covered at what may be the most important webinar about precision medicine lab testing that has yet been delivered to the clinical laboratory industry. The webinar is titled, What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision Medicine Products, and takes place Wednesday, March 22, at 1 PM EDT.

Your experts will emphasize the two vital success factors for a labs precision medicine test program. For the clinical and operational issues involved in selecting, performing, reporting, and business development to generate specimen referrals, the speakers are Don Rule, CEO, and Yoav Sibony, Vice President of Sales & Marketing, at Translational Software in Bellevue, WA. Translational Software currently provides a full range of services to more than 80 client labs and health organizations that includes annotating and analyzing molecular and genetic test data, helping labs define genetic panels relevant to the labs clinicians and augmenting existing panels with interpretation, plus other capabilities.

Next, for the important issue of how to get paid for your labs molecular and genetic tests, the speaker is Kyle Fetter, Vice President of Advanced Diagnostics at XIFIN, Inc. in San Diego, CA. XIFIN is one the nations largest providers of revenue cycle management services to clinical laboratories, pathology groups, and molecular/genetic testing companies.

Fetter brings an informed perspective to the topic of helping your lab get paid because XIFIN handles several hundreds of millions of lab test claims for its client labs each year. It has electronic interfaces with every health insurance plan in the United States and thus knows the coverage guidelines and criteria needed for molecular and genetic test claims to be successfully adjudicated and reimbursed to the submitting molecular and genetic testing lab company.

And theres more! Hospital and health system labs are in for a positive surprise. During his presentation, Rule will discuss how existing lab instruments can be used to perform precision medicine testing, thus giving hospital labs a way to generate more specimen referrals while becoming an essential clinical partner with physicians in the inpatient, outreach, and outpatient settings.

Indeed, you and your lab team will be gaining information from three experts with deep experience in the still-young clinical market for precision medicine testing. You will hear up-to-the-minute reports about which areas of precision medicine are growing fastest, including cancer testing and pharmacogenomic testing.

As an added bonus, at the conclusion of the presentation there will be a Q&A period during which youll be able to submit your own specific questions to our expert panel. This segment of the webinar represents particularly high value for you and your lab team!

DATE: Wednesday, March 22, 2017

TIME: 1 PM EDT; 12 Noon CDT; 10 AM PDT

PLACE: Your computer and/or speakerphone

COST:$195 per site (unlimited attendance per site) through 3/10/17, $245 thereafter

TO REGISTER: Click here or call512-264-7103

Youll come away from this webinar with powerful insights about specific types of precision medicine tests that have accepted clinical evidence of utility and are thus becoming a standard of care. These are also the tests for which payers will most readily reimburse when utilized appropriately by physicians.

How to Register:1. Online 2. Call 512-264-7103.

Your orderincludes:

Register todayto take advantage of early-bird savings! For more information, call us at 512-264-7103.

She is a member of DxMA, ASM and AMP and was a Microbiology Supervisor before transitioning to the diagnostic industry.

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What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision ... - DARKDaily.com - Laboratory News

Merced Sun-Star

UC Merced professor finds genetic triggers related to cancer Merced Sun-Star Everybody has a similar set of genes, but what makes us unique is their activity and, in a way, how the information is expressed, Filipp said. Targeting those newly identified genes and pathways could give researchers a new avenue for precision ... and more »

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UC Merced professor finds genetic triggers related to cancer - Merced Sun-Star

The Scientist

Protecting Patients from Genetic Discrimination The Scientist In a 2015 article in the New England Journal of Medicine, medical geneticist Robert Green of Harvard analyzed the impacts of GINA seven years after the law's passage. He noted that virtually no cases of genetic insurance discrimination had been ...

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Protecting Patients from Genetic Discrimination - The Scientist

Biomarker testing for harmful genetic mutations provides the opportunity to identify at-risk individuals who might benefit from risk modification strategies and/or enhanced disease screening. This may translate into preventing disease through risk reduction, prevention of advanced disease through earlier detection, and decreased cancer mortality from detection and treatment of localized disease, says Dennis Holmes, MD, breast cancer surgeon and interim director, Margie Petersen Breast Center at John Wayne Cancer Institute at Providence Saint Johns Health Center in Santa Monica, California.

Heres how biomarkers are currently being used to treat diseases, and what promises they hold.

Acute myeloid leukemia

For more than 40 years, acute myeloid leukemia (AML), a cancer of the blood and bone marrow, has been treated as one disease. The standard of care, which involved two toxic chemotherapy drugs, has not changed much over that time, says Ross Levine, MD, director, Memorial Sloan Kettering Center for Hematologic Malignancies, New York, New York. Most patients, especially older adults, do not respond well or cannot tolerate the treatment. The prognosis for most seniors with AML is very dismal.

However, an endeavor currently under way could improve patient outcomes. In conjunction with the FDA, the Leukemia & Lymphoma Society (LLS) launched a collaboration of cancer centers, pharmaceutical companies, and a genomics provider to design a protocol for the Beat AML Master Trial in October 2016 that will include multiple clinical sites and multiple treatment arms.

The Beat AML Master Trial is the first-ever precision medicine clinical trial in a blood cancer, where multiple drugs are tested simultaneously at multiple clinical sites. With a patient-focused neutral party such as LLS at the center, it eases the way for multiple pharmaceutical companies to join the collaboration to test their agents, Levine says.

Newly diagnosed patients can provide a bone marrow sample to a genomics laboratory and have their specific genetic mutations identified so clinicians can prescribe a more precisely targeted novel therapy matched to their subtype of AML.

Understanding a patients biomarker(s) helps clinicians make better decisions about appropriate drugs for an individual patient by targeting the drivers of the cancer and sparing the healthy cells, Levine explains.This trial aims, for the first time, to use these genetic markers to assign first-line therapy in real time, which we believe will accelerate our ability to get molecularly targeted drugs to AML patients at diagnosis and to accelerate drug development.

Reimbursement for testing is a rapidly moving target. We are waiting to see how the government handles reimbursement of such tests and hope that genetic testing will soon be covered for all cancer patients, Levine says.

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Six diseases reap benefits of biomarkers, genetic tests - ModernMedicine

By Joanna Smith, The Canadian Press on March 1, 2017.

OTTAWA Justice Minister Jody Wilson-Raybould wants to know whether Canadas premiers think barring insurance providers from asking clients to disclose the results of genetic testing would stray too far into provincial jurisdiction.

In a letter to Yukon Premier Sandy Silver, current chair of the group known as the Council of the Federation, Wilson-Raybould says a number of provinces have a constitutional problem with parts of Bill S-201, which would add genetic characteristics as prohibited grounds of discrimination under the Canadian Human Rights Act.

Given the important constitutional issues in play, we call on the Council of the Federation to communicate its views on the constitutionality of Bill S-201s proposal to regulate all contracts, agreements, and goods and services to prohibit genetic discrimination, Wilson-Raybould wrote in the letter sent Wednesday.

The insurance industry has strongly opposed that aspect of the proposed legislation, which would make it illegal for anyone to require a person to undergo genetic testing, or disclose the results of previous tests, as a condition for signing or continuing an insurance policy or any other good, service, contract or agreement.

It would also prohibit anyone from sharing the results of someones genetic testing without their written consent, although there are exceptions for physicians and researchers.

Breaking the law could mean a fine of up to $1 million, or five years behind bars.

The unusual step of seeking formal input from the provinces and territories comes after the Liberal government brought forward amendments last month to remove those parts of the bill, arguing that MPs had a duty to respect the constitutional division of powers.

That move caught the opposition off guard, prompting both the Conservatives and the NDP to note that witnesses who appeared before the House of Commons justice committee studying the bill largely agreed it was constitutional.

It also surprised Liberal MP Rob Oliphant, who has shepherded the Senate bill through the House of Commons, who said at the time the changes would essentially gut this bill.

If they are passed, they would rob it of its ability to help all Canadians and limit its effect to very few, Oliphant said Feb. 14 in the Commons.

The Conservatives and the NDP are generally supportive of the bill and Oliphant said he also has support from many of his Liberal caucus colleagues.

Wilson-Raybould said she received letters of dissent from Quebec, Manitoba and B.C., but suggested there are still other opponents.

In direct communications with me and my office, other provinces have raised doubts about this legislation but have declined to take a public position, she wrote.

She said she wants the premiers to share their views by the time debate on the bill resumes in the House of Commons next week. A final vote on the bill could come as early as March 8.

In her letter, Wilson-Raybould expressed strong support for the part of the bill that would bring genetic discrimination under the Canadian Human Rights Act.

The knowledge obtained by a diagnostic test could lead to early medical decisions that reduce risk to Canadians health, Wilson-Raybould wrote.

These important advantages are liable to being frustrated if Canadians avoid such tests due to fear of genetic discrimination. It is imperative that we, as a country, take proactive measures to address this emerging human rights issue.

Wilson-Raybould also urged the premiers to tackle the issue within their own jurisdictions.

I am confident that we can add the prohibition of genetic discrimination to that proud human rights heritage.

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Justice minister seeks input from premiers on genetic discrimination bill - Medicine Hat News

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Rob Metcalf, left, and Mark Harris of NextGxDx, now Concert Genetics

Lee Steffen

Say goodbye to NextGxDx and hello to Concert Genetics.

The buzzy Nashville-area health-tech company, a high-profile graduate of the city's original startup accelerator, has rebranded. The name change reflects the company's effort to bring a broader pool of stakeholders including clinicians, labs and, increasingly, health plans together (in "concert" as it were) to move genetic testing and precision medicine forward.

Rob Metcalf, left, and Mark Harris of NextGxDx, now Concert Genetics

Lee Steffen

"We've had the name NextGxDx for seven years now," Mark Harris, founder and chief innovation of the genetic-testing marketplace company, said in an exclusive interview. "I think it served its purpose well."

The company formerly known as NextGxDx, which offers a variety of tools to increase "transparency and efficiency in genetic testing," as described in a news release, was founded by Harris in 2010. The company went through accelerator-turned-investment fund Jumpstart Foundry, and is often cited as one of the program's most successful graduates and one of the area's most promising health-tech ventures.

Now called Concert Genetics, the firm offers a searchable database of genetic tests for clinicians, along with products providing information and transparency around genetic testing to hospitals and health insurers.

Last summer, Harris gave up the CEO title at the young company. Rob Metcalf, formerly president of white-hot Franklin-based cognitive computing company Digital Reasoning, took over the top executive spot a little more than seven months ago, around which time the name-change conversation began.

"We started more or less when I came on board," Metcalf said, explaining that he early on asked Harris if he'd consider a name that captured the "broader impact" of the company's work.

The name "NextGxDx" was meant to reflect the way the company represented "the next step in genomics and diagnostics," Harris said. But in the years since the company was founded, he continued, the market for precision medicine tools has grown and the company has broadened its customer base, most notably to include insurers, spurring the change.

Still, Metcalf said, the team "didn't really set out to change the name."

"We set out to figure out the strategy for growing the business," he said.

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This well-known health-tech company has a new name - Nashville Business Journal

Jacksonville Business Journal

Ever been perscribed the wrong drug? This First Coast pharmacist has a genetic test to prevent it Jacksonville Business Journal Depending on your genes, you could be a poor metabolizer, Intermediate, extensive (normal), or rapid metabolizer. Without testing for your polymorphisms, you and your doctor simply are guessing what medicine to try. Hopefully, you do not get the wrong ...

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Ever been perscribed the wrong drug? This First Coast pharmacist has a genetic test to prevent it - Jacksonville Business Journal

February 28, 2017 Credit: Cardiff University

Researchers at Cardiff University have discovered that genetic variation is the reason why some immune systems overreact to viruses.

Previous research had already revealed that a gene called Ifitm3 influences how sensitive people are to the influenza virus, with a variant form of the gene making cells more susceptible to viral infection. The new research reveals that Ifitm3 also plays an important role in controlling the extent of the inflammatory response triggered by virus infection.

The study suggests that individuals with deficiencies in Ifitm3 may have an overactive immune response to viral infection and may therefore be helped by a combination of anti-inflammatory drugs in addition to medicine that directly targets the virus.

World-wide the frequency of the variant Ifitm3 gene is 1 in 400, although it is much more common in certain ethnicities.

Dr Ian Humphreys from Cardiff University's School of Medicine said: "Now we know that genetic make-up influences how the immune system copes with infections, not only by influencing how the body controls an infection but also by controlling how strongly the body's immune system reacts, we can design therapeutic strategies for individuals who are seriously ill with infections, which are tailored to the individual based on their genetic profile."

The data were collected using immune cells from mice with and without the variant form of Ifitm3, to observe how the immune system responds to a virus called cytomegalovirus. The results could also be relevant for other viral infections such as influenza epidemics/pandemics.

Explore further: Genetics of flu susceptibility: Researchers find gene that can transform mild influenza to a life-threatening disease

More information: Maria A. Stacey et al. The antiviral restriction factor IFN-induced transmembrane protein 3 prevents cytokine-driven CMV pathogenesis, Journal of Clinical Investigation (2017). DOI: 10.1172/JCI84889

Researchers at Cardiff University have discovered that genetic variation is the reason why some immune systems overreact to viruses.

Scientists at Sanford Burnham Prebys Medical Discovery Institute (SBP) have identified a new regulator of the innate immune responsethe immediate, natural immune response to foreign invaders. The study, published recently ...

A new discovery by researchers at the Fred Hutchinson Cancer Research Center in Seattle makes an important step in identifying which specific T cells within the diverse army of a person's immune system are best suited to ...

As much as we try to avoid it, we are constantly sharing germs with those around us. But even when two people have the same infection, the resulting illnesses can be dramatically differentmild for one person, severe or ...

Scientists propose in Nature blocking a molecule that drives inflammation and organ damage in Gaucher and maybe other lysosomal storage diseases as a possible treatment with fewer risks and lower costs than current therapies.

If you've ever wondered how a vaccine given decades ago can still protect against infection, you have your plasma cells to thank. Plasma cells are long-lived B cells that reside in the bone marrow and churn out antibodies ...

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Genetic variant linked to overactive inflammatory response - Medical Xpress

Dr. Iliyan Iliev, an assistant professor of immunology in medicine at Weill Cornell Medicine, has been awarded a one-year, $100,000 grant from the Kenneth Rainin Foundation to study the behavior of fungi in the immune system when patients with inflammatory bowel disease are administered a form of immunotherapy.

Dr. Iliev, who is also a scientist in the Jill Roberts Institute for Research in Inflammatory Bowel Disease, won the foundations 2016 Breakthrough Award for his study The Role of Mycobiota During Immunomodulatory Therapy for Inflammatory Bowel Disease. The foundation awarded Dr. Iliev an Innovator Award for the same study in 2015, and deemed his work worthy of further funding.

The Rainin Foundation provides early support to innovative ideas, like Dr. Ilievs, that have the potential to yield major insights into predicting and preventing inflammatory bowel disease. We are pleased to continue supporting Dr. Ilievs research and see how his findings will translate into meaningful health outcomes for people living with this disease, said Dr. Laura Wilson, director of health strategy and ventures for the Rainin Foundation.

The study is one of few that explores the composition and efficacy of fungal mycobiota while patients are administered immunosuppressive drugs.

There is a group of patients who have flares even though theyre on active immunosuppression therapy, Dr. Iliev said. So what are the triggers? Thats the question were thinking about.

While some fungi are harmful, others can be beneficial to the immune system, Dr. Iliev said. By investigating fungal behavior and identifying fungal population that might be involved in disease pathology, he hopes to bring greater clarity to the pathology of inflammatory bowel disease.

The Kenneth Rainin Foundation collaborates with creative thinkers in the arts, education and health sectors. Its health program supports novel, high-risk research and facilitates collaboration among researchers to enhance and accelerate discoveries in inflammatory bowel disease.

I went this past July to their Innovations Symposium, and it was outstanding, Dr. Iliev said. They invited people who really know the field and are able to make a difference, so Im very excited to work with them.

In addition to the Breakthrough Award, the Kenneth Rainin Foundation recently awarded Dr. Iliev and colleagues from Mount Sinai a $250,000 Synergy Award to examine the composition of the fungal community in babies born to mothers with inflammatory bowel disease. The investigators hope to better understand whether fungi can be transferred from mothers to babies and potentially contribute to disease later in life.

Dr. Lotfi Chouchane, a professor of genetic medicine and of microbiology and immunology, received a Regional Scientific Excellence Award from the UAE Genetic Diseases Association during the sixth International Genetic Disorders Conference on Oct. 22 in Dubai. Dr. Chouchane was recognized for his continued work on genetic disorders.

Dr. Byron Demopoulos, an associate professor of clinical medicine, on Nov. 19 won the Cayuga Medical Center-Weill Cornell Medicine Award from Cornell Community Relations for establishing a collaboration between Weill Cornell Medicine, Cayuga Medical Center and Ithaca-area physicians. Dr. Demopoulos won the award at the 2016 Town-Gown Awards in Ithaca.

Dr. Pamela Eliach, an assistant professor of medicine, on Oct. 6 was accepted into the 2017 Harvard Macy Institute Program for Educators in Health Professions. The program aims to enhance the professional development of physicians, basic scientists and other healthcare professionals as educators.

Dr. Melanie Ongchin, an assistance professor of surgery, was named a fellow of the American College of Surgeons during its convocation ceremony on Oct. 16 in Washington, D.C. The college is dedicated to improving the surgical care of patients and safeguarding standards of care in an optimal and ethical practice environment.

Dr. Heather Yeo, the Nanette Laitman Clinical Scholar in Healthcare Policy and Research/Clinical Evaluation and an assistant professor of surgery and of healthcare policy, won the James IV Traveling Scholar Award from the James IV Association of Surgeons. The association sponsors visiting fellowship opportunities for young surgeons from and to member countries. Dr. Yeos fellowship covers four weeks of travel over a two-year period and pays $15,000. She will travel to the United Kingdom, Australia, Hong Kong and possibly Japan to study treatment controversies of rectal cancer.

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Awards and Honors Across Weill Cornell Medicine - Cornell Chronicle

Researchers may be one step closer to determining the cause of schizophrenia, after uncovering an abnormal genetic process associated with the disease that begins in the womb.

By transforming skin cells from patients with schizophrenia into neuronal progenitor cells - cells that form neurons in early development - researchers identified an abnormal gene pathway called nuclear FGFR1 (nFGFR1) that impairs early brain development.

Senior study author Michal K. Stachowiak, Ph.D., of the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo in New York, and colleagues say that their findings may bring us closer to treatments that could prevent schizophrenia in utero.

The researchers recently reported their results in the journal Schizophrenia Research.

According to the National Institute of Mental Health, around 1.1 percent of adults in the United States have schizophrenia - a mental health disorder characterized by hallucinations, delusions, and abnormal thoughts.

While the exact causes of schizophrenia remain unclear, researchers have long known that the condition can run in families, suggesting a genetic origin. Furthermore, an increasing number of studies have uncovered genetic mutations associated with an increased risk of schizophrenia.

For their study, Stachowiak and colleagues sought to learn more about the genomic processes that occur in utero that might influence the risk of schizophrenia development.

To reach their findings, the researchers collected skin cells from four adults with schizophrenia and four adults without the disorder.

The skin cells were reprogrammed into induced pluripotent stem cells, and these differentiated into neuronal progenitor cells. This enabled the team to assess the processes that occur during early brain development in people with schizophrenia.

The researchers pinpointed a dysregulated nFGFR1 pathway that targets and mutates numerous genes associated with schizophrenia. The team explains that just one of these gene mutations can impact brain development.

According to the authors, these findings provide proof of concept that schizophrenia may be caused by a dysregulated genomic pathway that influences the brain before birth.

"In the last 10 years, genetic investigations into schizophrenia have been plagued by an ever-increasing number of mutations found in patients with the disease. We show for the first time that there is, indeed, a common, dysregulated gene pathway at work here."

Michal K. Stachowiak, Ph.D.

Furthermore, the team says that these findings open the door to new schizophrenia treatments. For example, a drug could be administered to expectant mothers, whose offspring has a high risk of developing schizophrenia, that prevents processes related to the disease occurring in the developing fetus.

In future studies, the researchers plan to grow "mini brains" using the same processes used in the current study, with the aim of gaining a deeper understanding of how dysregulation of the nFGFR1 pathway influences early brain development, as well as to provide a model to test possible treatments.

Learn how B vitamins might improve symptoms of schizophrenia.

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Schizophrenia begins in the womb, study suggests - Medical News Today

Gulf Times

WCM-Q study throws light on genetic medical research - Gulf Times Gulf Times A study by Weill Cornell Medicine-Qatar (WCM-Q) researchers has revealed many previously unknown links between genetic variations and a series of ... and more »

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WCM-Q study throws light on genetic medical research - Gulf Times - Gulf Times

Researchers may have found a molecule that inhibits the growth of a rare but fatal tumor that occurs in children, called diffuse intrinsic pontine glioma.

Diffuse intrinsic pontine glioma (DIPG) is a pediatric brain tumor that mainly affects children under 10 years of age.

Approximately 300 children - usually between 5 and 9 years old - are diagnosed with DIPG every year. DIPGs are located in the brain's pons - a brain region that controls many of the body's vital functions, including breathing and heart rate.

DIPGs are extremely aggressive and difficult to treat, so being diagnosed with the tumor typically results in death within a year.

New research, however, offers hope for treating DIPG. Scientists from Northwestern University in Evanston, IL, may have found a molecule that could stop the development of the tumor. The team was led by Ali Shilatifard, Robert Francis Furchgott professor of biochemistry and pediatrics, and chair of biochemistry and molecular genetics at Northwestern University's Feinberg School of Medicine.

The new findings - published in the journal Nature Medicine - build on research that Shilatifard and colleagues have carried out in the past. Shilatifard and his team identified the pathway through which a genetic mutation causes cancer in a study published in the magazine Science, and a follow-up study - conducted in collaboration with Rintaro Hashizume and his team - used this knowledge to test the effects of pharmacological therapy on DIPG in mice.

The latter study inhibited the previously identified genetic pathway and successfully prolonged the life of mice by 20 days. The drug was administered through the mice's abdomen, but in this latest research, the team set out to investigate whether injecting the cells into the mice's brainstem would have more robust effects.

The scientists sampled tumor cell lines from an untreated patient and injected them into a mouse's brainstem, where it grew into a tumor. Subsequently, the scientists treated the mouse with a BET bromodomain inhibitor and went on to clinically monitor the tumor.

The BET bromodomain inhibitor has proven efficacious in several cancer models before.

In this study, by using the inhibitor, bromodomain proteins could no longer bind to the histone H3K27M - a mutant protein found in 80 percent of DIPG tumors. BET inhibitors stopped the proliferation of tumor cells, and forced them to differentiate into other cells instead. This successfully stopped tumor growth.

The study's first author, Andrea Piunti - a postdoctoral fellow in Shilatifard's laboratory in biochemistry and molecular genetics at Northwestern University Feinberg School of Medicine - suggests that BET inhibitors should next be tested in a pediatric trial to treat DIPG, especially since the drugs are already being tested for pediatric leukemia.

"To the best of our knowledge, this is the most effective molecule so far in treating this tumor. Every other therapy that has been tried so far has failed."

Ali Shilatifard, senior author

The senior author also notes that the currently available radiation therapy is ineffective in treating DIPG; it only adds a few months to the patients' survival.

Shilatifard comments on the importance of Northwestern University for making this research possible:

"This work could not have been done anywhere in the world except Northwestern Medicine, because of all the scientists and physicians who have been recruited here during the past five years and how they work together to link basic scientific research to the clinic," Shilatifard says. "This discovery is the perfect example of how we take basic science discoveries and translate them to cure diseases at Northwestern Medicine."

Learn how childhood cancer treatment may hinder later-life sexual relationships.

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Rare but fatal pediatric brain tumor may be stopped with new molecule - Medical News Today

February 24, 2017 Dr. Pengfei Liu holding human DNA treated with fluorescent dyes prepared for copy number variant analysis. Credit: Baylor College of Medicine

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code can occur spontaneously, as a mutation, causing developmental problems. Others, as an international team of researchers has discovered, are too numerous to be explained by random mutation processes present in the general population. When such multiple genetic changes occur before or early after conception, they may inform scientists about fundamental knowledge underlying many diseases. The study appears in Cell.

"As a part of the clinical evaluation of young patients with a variety of developmental issues, we performed clinical genomic studies and analyzed the genetic material of more than 60,000 individuals. Most of the samples were analyzed at Baylor Genetics laboratories," said lead author Dr. Pengfei Liu, assistant professor of molecular and human genetics Baylor College of Medicine and assistant laboratory director of Baylor Genetics. "Of these samples, five had extreme numbers of genetic changes that could not be explained by random events alone."

The researchers looked at a type of genetic change called copy number variants, which refers to the number of copies of genes in human DNA. Normally we each have two copies of each gene located on a pair of homologous chromosomes.

"Copy number variants in human DNA can be compared to repeated or missing paragraphs or pages of text in a book," said senior author Dr. James R. Lupski, Cullen Professor of Molecular and Human Genetics at Baylor. "For instance, if one or two pages are duplicated in a book it could be explained by random mistakes. On the other hand, if 10 different pages are duplicated, you have to suspect that it did not happen by chance. We want to understand the basic mechanism underlying these multiple new copy number variant mutations in the human genome."

A rare, early and transitory phenomenon that can affect human development

The researchers call this phenomenon multiple de novo copy number variants. As the name indicates, the copy number variants are many and new (de novo). The latter means that the patients carrying the genetic changes did not inherit them from their parents because neither the mother nor the father carries the changes.

In this rare phenomenon, the copy number variants are predominantly gains duplications and triplications rather than losses of genetic material, and are present in all the cells of the child. The last piece of evidence together with the fact that the parents do not carry the alterations suggest that the extra copies of genes may have occurred either in the sperm or the egg, the parent's germ cells, and before or very early after fertilization.

"This burst of genetic changes happens only during the early stages of embryonic development and then it stops," Liu said. "Interestingly, despite having a large number of mutations, the young patients present with relatively mild neurological problems."

The researchers are analyzing more patient samples looking for additional cases of multiple copy number variants to continue their investigation of what may trigger this rare phenomenon.

"We hope that as more researchers around the world learn about this and confirm it, the number of cases will increase," Liu said. "This will improve our understanding of the underlying mechanism and of why and how pathogenic copy number variants arise not only in developmental disorders but in cancers."

A new era of clinical genomics-supported medicine and research

This discovery was made possible in great measure thanks to the breadth of genetic testing performed and genomic data available at Baylor Genetics laboratory.

"The diagnostics lab Baylor Genetics is one of the pioneers in this new era of clinical genomics-supported medical practice and disease gene discovery research," Lupski said. "They are developing the clinical genomics necessary to foster and support the Precision Medicine Initiative of the National Institutes of Health, and generating the genomics data that further drives human genome research."

Using state-of-the art technologies and highly-trained personnel, Baylor Genetics analyzes hundreds of samples daily for genetic evaluation of patients with conditions suspected to have underlying genetic factors potentially contributing to their disease. Having this wealth of information and insight into the genetic mechanisms of disease offers now the possibility of advancing medicine and basic research in ways that were not available before.

"There is so much that both clinicians and researchers can learn from the data generated in diagnostic labs," Liu said. "Clinicians receive genomic information that can aid in diagnosis and treatment of their patients, and researchers gather data that can help them unveil the mechanisms underlying the biological perturbations resulting in the patients' conditions."

Explore further: Largest study of its kind finds rare genetic variations linked to schizophrenia

More information: An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell, DOI: dx.doi.org/10.1016/j.cell.2017.01.037

Journal reference: Cell

Provided by: Baylor College of Medicine

Many of the genetic variations that increase risk for schizophrenia are rare, making it difficult to study their role in the disease. To overcome this, the Psychiatric Genomics Consortium, an international team led by Jonathan ...

Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children's Hospital are combining descriptions of patients' clinical features with their complex ...

Scientists have linked a gene called PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a better understanding of the genetic ...

A team of scientists from a number of institutions around the world, including Baylor College of Medicine, has discovered that rare neurological syndromes for which there was no cause can be the result of variations in the ...

A team of researchers at Baylor College of Medicine has developed a family-based association test that improves the detection in families of rare disease-causing variants of genes involved in complex conditions such as Alzheimer's. ...

An international team of scientists has identified variants of the gene EBF3 causing a developmental disorder with features in common with autism. Identification of these gene variants leads to a better understanding of these ...

The genetic material of an organism encodes the instructions that guide its development. These codes are not written in stone; they can change or mutate any time during the life of the organism. Single changes in the code ...

A research team from the United States and Canada has developed and successfully tested new computational software that determines whether a human DNA sample includes an epigenetic add-on linked to cancer and other adverse ...

Gene discovery research is uncovering new information about similarities and differences underlying various neurodevelopmental disorders.

A University of Toronto (U of T) study on fruit flies has uncovered a gene that could play a key role in obesity in humans.

Our genes play a significant role in how anxious we feel when faced with spatial and mathematical tasks, such as reading a map or solving a geometry problem, according to a new study by researchers from King's College London.

Gene editing techniques developed in the last five years could help in the battle against cancer and inherited diseases, a University of Exeter scientist says.

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Scientists find a striking number of genetic changes can occur early ... - Medical Xpress

February 24, 2017 by Geri Clark Killer T cells surround a cancer cell. Credit: NIH

A newly discovered type of genetic mutation that occurs frequently in cancer cells may provide clues about the disease's origins and offer new therapeutic targets, according to research from Weill Cornell Medicine and the New York Genome Center.

Using next-generation sequencing technology, scientists have previously traced cancer's roots to mutations that disrupt the sequence of proteins. As a result, the cell either creates hyperactive or dysfunctional versions of proteins, or fails to produce them at all, leading to cancer. Now, a study published Jan. 12 in Cell illuminates a possible new type of driver of the disease: small (one- to 50-letter) insertions or deletions of DNA sequence, also called "indels," in regions of the genome that do not code for protein.

"Those noncoding regions are still important because they contain sequences that affect how genes are regulated, which is critical for normal cell development," said lead author Dr. Marcin Imielinski, an assistant professor of pathology and laboratory medicine at Weill Cornell Medicine and a core member at the New York Genome Center. "We already know they are biologically important. The question is whether they can impact cancer development."

In the study, Imielinski and his colleagues analyzed sequencing data from several publicly available databases of tumor samples, focusing on the 98 percent of the genome that does not code for protein. They initially looked at lung adenocarcinoma, the most common type of lung cancer, and found that the most frequent indel-mutated regions in their genomes landed in genes encoding surfactant proteins.

Though these genes are essential for healthy lung function, they had not previously been associated with lung cancer. However, they are highly and specifically expressed by the cell type that gives rise to lung adenocarcinoma.

The researchers then looked at the genomes of 12 other cancer types and found similar patterns in liver, stomach and thyroid tumors.

"In each cancer, noncoding indels clustered in genes that are critical to organ function, but had not been associated with the cancer," said Imielinski, who is also an assistant professor of computational genomics in the HRH Prince Alwaleed Bin Talal Bin Abdulaziz Al-Saud Institute for Computational Biomedicine and a member of the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine.

Most strikingly, these noncoding indels are very common, occurring in 20 to 50 percent of the associated cancers.

"They occur as frequently as the most famous cancer-causing mutations," said Imielinski, a paid consultant for the company 10X Genomics, which sells devices and technology to analyze genetic information. "Any gene or any sequence that mutated at this frequency has been shown to play a causal role in cancer. That would be an exciting outcome, if we can prove it."

Even if these mutations are not shown to cause cancer, they can be used in the future to improve cancer diagnosis and treatment.

"These mutations can be biomarkers that help us to diagnose a cancer early, or they could be used to pinpoint a primary cancer when there are metastases and we can't find the original cancer," Imielinski said. "There are a lot of potential clinical implications from these findings."

Explore further: Researchers pinpoint key regulatory role of noncoding genes in prostate cancer development

More information: Marcin Imielinski et al. Insertions and Deletions Target Lineage-Defining Genes in Human Cancers, Cell (2017). DOI: 10.1016/j.cell.2016.12.025

Journal reference: Cell

Provided by: Cornell University

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A newly discovered type of genetic mutation that occurs frequently in cancer cells may provide clues about the disease's origins and offer new therapeutic targets, according to research from Weill Cornell Medicine and the ...

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Discovery of genetic mutation may boost cancer therapies - Medical Xpress

Researchers provide further evidence of how gene mutations in a certain brain region might fuel behaviors associated with obsessive-compulsive disorder. The findings could pave the way for new treatments for the condition.

Obsessive-compulsive disorder is a condition characterized by uncontrollable thoughts, obsessions, and compulsions.

Obsessions include repetitive thoughts or mental images that trigger anxiety, while compulsions refer to the urge to repeat certain behaviors in response to obsessions. Common examples of compulsions include excessive hand-washing, arranging items in a particular way, and compulsive counting.

OCD is estimated to affect around 1 percent of adults in the United States. Of these adults, 50 percent have severe OCD, which can significantly interfere with daily life.

While the precise causes of OCD are unclear, previous studies have suggested that the disorder may be caused by specific gene mutations.

In the new study, researchers from Northwestern University in Chicago, IL, have pinpointed gene mutations in the corticostriatal region of the brain that led to OCD-like behaviors in mice.

Lead author Anis Contractor, associate professor of physiology at Feinberg School of Medicine, and colleagues recently reported their findings in the journal Cell Reports.

In humans and mice, the corticostriatal brain region is responsible for regulating repetitive behavior. "People with OCD are known to have abnormalities in function of corticostriatal circuits," notes Contractor.

By analyzing this brain region in mice, Contractor and colleagues identified a number of synaptic receptors - called kainate receptors (KARs) - that play a key role in the development of the corticostriatal region.

The researchers then set out to investigate whether disrupting KAR genes in mice - thereby eliminating KARs - might induce repetitive behavior in the rodents. They found this was the case.

Mice whose KAR genes were erased displayed a number of OCD-like behaviors, such as over-grooming and repeatedly digging in their bedding.

The team says these findings provide further evidence that KAR genes play a role in OCD in humans, and a possible biological mechanism.

"A number of studies have found mutations in the kainate receptor genes that are associated with OCD or other neuropsychiatric and neurodevelopmental disorders in humans.

I believe our study, which found that a mouse with targeted mutations in these genes exhibited OCD-like behaviors, helps support the current genetic studies on neuropsychiatric and neurodevelopmental disorders in humans."

Anis Contractor

The team suggests that in the future, KAR genes could be a target for the development of new drugs to treat OCD.

Learn how exposure therapy might help treat people with OCD.

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Gene mutations in brain linked to OCD-like behavior - Medical News ... - Medical News Today

[Editors note: Sharon Horesh Bergquist is a physician, teacher, researcher in preventive medicine and healthy aging at Emory University]

Personalized medicine, which involves tailoring health care to each persons unique genetic makeup, has the potential to transform how we diagnose, prevent and treat disease.

But genomic science remains in its infancyIts not that there havent been tremendous breakthroughs. Its just that the gap between science and its ability to benefit most patients remains wide. This is mainly because we dont yet fully understand the complex pathways involved in common chronic diseases.

Chronic diseases are only partially heritable. This means that the genes you inherit from your parents arent entirely responsible for your risk of getting most chronic diseases.

Chronic diseases are also complex. Rather than being controlled by a few genes that are easy to find, they are weakly influenced by hundreds if not thousands of genes, the majority of which still elude scientists.

We also have to consider decades of research on chronic diseases that suggest there are inherent limitations to preventing the global prevalence of these diseases with genomic solutions. For most of us, personalized medicine will likely complement rather than replace one-size-fits-all medicine.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:Personalized medicine may do more to treat rather than prevent chronic diseases

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Can personalized medicine help those with chronic diseases that have environmental triggers? - Genetic Literacy Project

A newly discovered type of genetic mutation that occurs frequently in cancer cells may provide clues about the diseases origins and offer new therapeutic targets, according to new research from Weill Cornell Medicine and the New York Genome Center.

Using next-generation sequencing technology, scientists have previously traced cancers roots to mutations that disrupt the sequence of proteins. As a result, the cell either creates hyperactive or dysfunctional versions of proteins, or fails to produce them at all, leading to cancer. Now, a study published Jan. 12 in Cell illuminates a possible new type of driver of the disease: small (one-50 letter) insertions or deletions of DNA sequence, also called indels, in regions of the genome that do not code for protein.

Dr. Marcin Imielinski Photo credit: John Abbott

Those non-coding regions are still important because they contain sequences that affect how genes are regulated, which is critical for normal cell development, said lead author Dr. Marcin Imielinski, an assistant professor of pathology and laboratory medicine at Weill Cornell Medicine and a core member at the New York Genome Center. We already know they are biologically important. The question is whether they can impact cancer development.

In the study,Dr.Imielinski and colleagues from the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute analyzed sequencing data from several publicly available databases of tumor samples, focusing on the 98 percent of the genome that does not code for protein. They initially looked at lung adenocarcinoma, the most common type of lung cancer, and found that the most frequent indel-mutated regions in their genomes landed in genes encoding surfactant proteins. Though these genes are essential for healthy lung function, they had not previously been associated with lung cancer. However, they are highly and specifically expressed by the cell type that gives rise to lung adenocarcinoma.

The researchers then looked at the genomes of 12 other cancer types and found similar patterns in liver, stomach and thyroid tumors. In each cancer, noncoding indels clustered in genes that are critical to organ function, but had not been associated with the cancer, said Dr. Imielinski, who is also an assistant professor of computational genomics in theHRH Prince Alwaleed Bin Talal Bin Abdulaziz Al-Saud Institute for Computational Biomedicineand a member of theSandra and Edward Meyer Cancer Centerat Weill Cornell Medicine.

This image shows genetic mutations (blue) in the context of their surrounding DNA sequence, highlighting a sequence motif (red) that Dr. Imielinski discovered.

Most strikingly, these non-coding indels are very common, occurring in 20-50 percent of the associated cancers. They occur as frequently as the most famous cancer-causing mutations, said Dr. Imielinski, who is a paid consultant for the company 10X Genomics, which sells devices and technology to analyze genetic information. Any gene or any sequence that mutated at this frequency has been shown to play a causal role in cancer. That would be an exciting outcome, if we can prove it.

Even if these mutations are not shown to cause cancer, they can be used in the future to improve cancer diagnosis and treatment. These mutations can be biomarkers that help us to diagnose a cancer early, or they could be used to pinpoint a primary cancer when there are metastases and we cant find the original cancer, Dr. Imielinski said. There are a lot of potential clinical implications from these findings.

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New Type of Genetic Mutation Identified in Cancer - Cornell Chronicle

ByKendra Carter

UAB News

Matthew Might, Ph.D., a renowned computer scientist and strategic leader appointed to the White House Precision Medicine Initiative by former President Barack Obama, has been named the inaugural director of the Hugh Kaul Personalized Medicine Institute at the University of Alabama at Birmingham School of Medicine.

Might comes to UAB from the University of Utah, where he is a Presidential Scholar and an associate professor in both computer science and pharmaceutical chemistry, and from Harvard Medical School, where he is a visiting professor of biomedical informatics. Mights research interests focus on the intersection of computation and medicine to advance precision medicine through personalized therapeutics.

Precision medicine is an emerging practice of conducting medicine that uses a comprehensive set of resources and information from an individuals family history and genetic profile to lifestyle and environment in order to guide decisions for the prevention, diagnosis and treatment of disease. It has attracted significant early attention for its promise in treating rare diseases and cancers at their root cause.

The Hugh Kaul Personalized Medicine Institute, named by a gift from the Hugh Kaul Foundation, was established in 2014. Might will be the inaugural director of the institute. Nita Limdi, Pharm.D., Ph.D., has served as interim director of the institute since its creation.

Dr. Might is a passionate scientist, and I believe that his drive and strategic vision will make UAB a national leader in precision medicine, said Selwyn M. Vickers, M.D., FACS, senior vice president for Medicine and dean of the UAB School of Medicine. He is an exceptional team builder, as evidenced by what he has accomplished over the last nine years. He will be a transformative presence for our patients and the academic enterprise as we look to build on what UAB has already done with undiagnosed diseases and expand those advances to deliver effective, individualized care to patients with cancer and common diseases.

Mights shift into genetics and drug development was inspired by his son Bertrand, who was diagnosed in 2012 as the first case of NGLY1 deficiency, an ultra-rare genetic disorder. Might then pioneered the use of social media and search engine optimization to find other patients with the rare genetic condition in a successful effort to advance scientific research and drug development for the disease. He has since co-founded a company that conducts personalized drug screens for genetic epilepsy.

Might was recruited in January 2015 by former President Barack Obama to serve as an adviser to the then newly launched Precision Medicine Initiative. He took on a formal role with the Precision Medicine Initiative as a White House official in the Executive Office of the President in March 2016.

Im terrifically excited to be joining the UAB School of Medicine, Might said. UAB leaders are making substantial commitments to make precision medicine a reality for patients in Alabama much sooner than it will be a reality anywhere else in the country. Theres a unique constellation of resources both within UAB, like the UAB Comprehensive Cancer Center, Center for Genomic Medicine and Informatics Institute, and in partnerships with Southern Research and HudsonAlpha that make precision medicine realistic today.

Might earned his bachelors, masters and doctoral degrees in computer science from Georgia Tech before joining the University of Utah in 2008.

Mights first day at UAB will be July 1, 2017.

See more here:

White House strategist to lead UAB's Personalized Medicine Institute - Birmingham Times

February 23, 2017 A laboratory at UW Medicine in Seattle where DNA research is underway to better understand genetic risks of disease. Credit: Clare McLean

Gene discovery research is uncovering new information about similarities and differences underlying various neurodevelopmental disorders.

These are a wide-ranging collection of conditions that affect the brain. They include autism, intellectual impairments, developmental delays, attention deficits, tic disorders and language difficulties.

To better understand how gene-disrupting mutations contribute to the biology of neurodevelopmental disorders, researchers recently conducted a large, international, multi-institutional study.

More than 11,700 affected individuals and nearly 2,800 control subjects underwent targeted DNA sequencing of 208 suspected disease-risk genes. The candidate genes were chosen based on previously published studies.

By looking at greater numbers of cases and using a reliable yet inexpensive molecular inversion probe, the project team wanted to measure the statistical significance of individual, implicated genes.

Their results are reported in Nature Genetics. The study leaders were Holly A. F. Stessman, Bo Xiong and Bradley P. Coe, of the genome sciences laboratory of Evan Eichler at the University of Washington School of Medicine and the Howard Hughes Medical Institute. Stessman is now at Creighton University.

Their samples were collected through the Autism Spectrum/Intellectual Disability 15-center network spanning seven countries and four continents. An advantage of this collection, the researchers said, is the ability to check back on a large fraction of cases to try to relate genetic results to clinical findings.

In their study population, the researchers associated 91 genes with the risk of a neurodevelopmental disorder. These included 38 genes not previously suspected of playing a role. Based on some of the family studies, however, mutations even in two or more of the risk genes may not be necessary or sufficient to cause disease.

Of the 91 genes, 25 were linked with forms of autism without intellectual disability. The scientists also described a gene network that appeared to be related to high-functioning autism. Individuals with this form of autism have average to above average intelligence, but may struggle in learning to talk, interact socially, or manage anxiety and sensory overload.

While observing that some genes were more closely associated with autism and others with intellectual or developmental impairments, the researchers found that most of the genes implicated were mutated in both conditions. This result reinforces the substantial overlap among these conditions in their underlying genetics and observable characteristics.

"Most of these genes are clearly risk factors for neurodevelopmental disorders in a broad sense," the researchers explained. "But analysis of both the genetic and subsequent patient follow-up data did single out some genes with a statistical bias towards autism spectrum disorder, rather than an intellectual disability or developmental delay."

Additional findings suggest that less severe mutations may be behind autism that is not accompanied by intellectual disability.

By following up with patients, the researchers could start to assess the newly discovered mutations. Such clinical information is important in determining how the genes might function, and how their disruption might lead to specific traits or symptoms.

In addition to looking at the overall severity of each neurodevelopmental disorder present, the scientists also summarized other features such as seizures, head size, and congenital abnormalities.

The researchers did in fact observe patterns from combining clinical and genetic data. They partitioned those genes most strongly associated with autism, and those more related to developmental disabilities.

Although the overall numbers were low, several autism risk genes appeared predominantly in males, including some detected exclusively in males who had autism without intellectual impairment.

To obtain additional evidence for how risk genes might affect behavior and nervous system function, the researchers investigated 21 genes in fruit fly models. They wanted to see if any of the mutations disrupted a fundamental form of learninggrowing accustomed to harmless stimuli.

Problems with the neuronal mechanisms behind habituation are thought to account for some autism features, such as inability to filter sensory input. The fruit fly studies showed habituation deficits from several of the gene mutations under review, thereby providing additional evidence that they may have a role in cognitive function.

Numerous grants and other funding from government agencies and private foundations in several countries supported this research.

"The scientists are continuing this project and are eager to work with interested families," said Raphael Bernier, associate professor of psychiatry and behavioral sciences and clinical director of the Seattle Children's Autism Center and associate director of the UW Center on Human Development and Disability.

Explore further: Genetic cause identified for previously unrecognized developmental disorder

More information: Holly A F Stessman et al, Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases, Nature Genetics (2017). DOI: 10.1038/ng.3792

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Sorting out risk genes for brain development disorders - Medical Xpress

A newly discovered type of genetic mutation that occurs frequently in cancer cells may provide clues about the diseases origins and offer new therapeutic targets, according to new research from Weill Cornell Medicine and the New York Genome Center.

Using next-generation sequencing technology, scientists have previously traced cancers roots to mutations that disrupt the sequence of proteins. As a result, the cell either creates hyperactive or dysfunctional versions of proteins, or fails to produce them at all, leading to cancer. Now, a study published Jan. 12 in Cell illuminates a possible new type of driver of the disease: small (one-50 letter) insertions or deletions of DNA sequence, also called indels, in regions of the genome that do not code for protein.

Dr. Marcin Imielinski Photo credit: John Abbott

Those non-coding regions are still important because they contain sequences that affect how genes are regulated, which is critical for normal cell development, said lead author Dr. Marcin Imielinski, an assistant professor of pathology and laboratory medicine at Weill Cornell Medicine and a core member at the New York Genome Center. We already know they are biologically important. The question is whether they can impact cancer development.

In the study,Dr.Imielinski and his colleagues analyzed sequencing data from several publically available databases of tumor samples, focusing on the 98 percent of the genome that does not code for protein. They initially looked at lung adenocarcinoma, the most common type of lung cancer, and found that the most frequent indel-mutated regions in their genomes landed in genes encoding surfactant proteins. Though these genes are essential for healthy lung function, they had not previously been associated with lung cancer. However, they are highly and specifically expressed by the cell type that gives rise to lung adenocarcinoma.

The researchers then looked at the genomes of 12 other cancer types and found similar patterns in liver, stomach and thyroid tumors. In each cancer, noncoding indels clustered in genes that are critical to organ function, but had not been associated with the cancer, said Dr. Imielinski, who is also an assistant professor of computational genomics in theHRH Prince Alwaleed Bin Talal Bin Abdulaziz Al-Saud Institute for Computational Biomedicineand a member of theSandra and Edward Meyer Cancer Centerat Weill Cornell Medicine.

This image shows genetic mutations (blue) in the context of their surrounding DNA sequence, highlighting a sequence motif (red) that Dr. Imielinski discovered.

Most strikingly, these non-coding indels are very common, occurring in 20-50 percent of the associated cancers. They occur as frequently as the most famous cancer-causing mutations, said Dr. Imielinski, who is a paid consultant for the company 10X Genomics, which sells devices and technology to analyze genetic information. Any gene or any sequence that mutated at this frequency has been shown to play a causal role in cancer. That would be an exciting outcome, if we can prove it.

Even if these mutations are not shown to cause cancer, they can be used in the future to improve cancer diagnosis and treatment. These mutations can be biomarkers that help us to diagnose a cancer early, or they could be used to pinpoint a primary cancer when there are metastases and we cant find the original cancer, Dr. Imielinski said. There are a lot of potential clinical implications from these findings.

Read the original post:

New Type of Genetic Mutation Identified in Cancer | Newsroom ... - Cornell Chronicle