Monthly Archives: May 2017

Human DNA Will Be Synthesized Within 5 Years, Prominent Geneticist States – Big Think

Posted: May 14, 2017 at 5:24 pm

The Human Genome Project (HGP) was the most ambitious and sweeping scientific analysis of our DNA, ever. Just a reminder, a genome is a complete set of instructions or DNA, the blueprints for building an entire organism. The project brought countless findings, which are just beginning to shape medicine and society.

Yet, something else has become quite clear. Being able to read our DNA doesnt mean you know everything about it. To further develop understanding, a new program seeks to write whole genomes from scratch, including plant, microbe, animal, and even human DNA. But that last one is creating a firestorm of controversy over whether we should be doing it at all.

Today, we have the entire human genome laid out before us, around three billion base pairs total. These are adenine (A), cytosine (C), guanine (G), and thymine (T). When snapped together, they form the iconic double helix were all familiar with. The genome is so complex, theres a lot we just dont know or even understand about it. For instance, we still arent sure how these base pairs work alongside one another.

Wikipedia Commons.

So how can genetics move forward? You dont really understand something inside and out without taking it apart, putting it back together, and making it yourself. As the renowned physicist Richard Feynman once said, "What I cannot create, I do not understand?

Using the information locked in the nucleotides, the ultimate goal is to be able to manipulate our genome and those of other organisms, to suit human needs. These include curing disease, producing more and healthier food, and someday perhaps, enhancing the human body beyond its current capabilities. Going down this road raises all kinds of ethical questions, however.

Because of this, over 100 experts from all over the world met in secret last year at Harvard Medical School. Attendees were asked not to share what had taken place at the meeting. Some scientists snubbed the event, since the press wasnt invited, even though ultimately, reporters found out and it was plastered all over the internet. The point was to create what came to be known as, the Human Genome Project-Write (GP-Write).

Around 250 researchers met again in New York City on May 9-10 of this year. Event attendees discussed logistics, ethics, and applications surrounding the project. The group behind GP-Write is now seeking $100 million for the first thrust of their project. Since the closed door session last year and the criticism it garnered, scientists are more open about the project now. Theyve even published an article and a white paper, explaining their proposal in detail.

One of the fears is that such technology will lead to designer babies. Getty Images.

Jef Boeke is one of the scientists leading the project. He is the director of the Institute for Systems Genetics at New York University. Dr. Boeke recently announced that GP-Write will be able to create artificial human DNA within 4-5 years.

Some geneticists think Dr. Boekes timeline is too ambitious. But most agree that well create an artificial orgasm within the next decade. What are the benefits? Consider 3D printing organs for transplant, eliminating the donor waiting list. Or engineering an immune cell to combat something like an Ebola outbreak more effectively. It may also help us better understand and someday eliminate the role of genes in the development of diseases.

Knowledge acquired through GP-Write could ultimately allow scientists to make human cells resistant to infection, radiation, and even cancer. The results might also lead to new drugs, advanced stem cell therapy, novel gene therapies, and even new biofuels.

To create an organism from scratch, innovative techniques will have to be devised. One thing scientists cant do yet is, take whole sections of DNA and connect them in the right places. CRISPR-a9 or gene editing, will likely help to devise other, similar techniques. Once researchers have artificial chromosomes, theyll inject them into hollow cells and see if they start dividing.

We could design other organisms too, like mosquitoes who can no longer carry dangerous bacteria. Getty Images.

Preliminary experiments are already underway. Critics argue that such efforts could lead to designer babies. Here, certain traits like skin color, height, sex, appearance, and intelligence would be selected by prospective parents. After the outrages propagated by eugenicists and the Nazis during World War II, trying to build a master race, one isnt so baffled by such concerns. Theres even worry over the possibility of patenting genes. Income inequality wouldnt hold a candle to biologically designed inequality, now would it?

Something else thats worrisome, scientists might accidentally create a new genetic disease that could enter the genome and be passed down to future generations. Or, artificially designed cells could get out and wreak havoc in the environment. Dr. Boeke is no longer shying away from public concerns. Now he invites comment. Francis Collins is the director of the US National Institutes of Health. He said, "Moving beyond reading DNA to writing DNA is a natural next step." But he also cautioned that input and discussion with the public is critical.

This is not only to clear up misinformation and garner input but to help shape what regulations should be in place. Just like with other breakout technologies, the innovation seems to be outpacing regulatory efforts. So far, the US has no coordinated biotech policy in place.

Besides controversy, the other stumbling block is cost. The current projection is $.10 per base pair. With three billion of them, the cost quickly adds up. The Human Genome Project cost $3 billion and took 13 years to complete. Should they receive appropriate funding, renowned geneticist George Church at Harvard University, will launch an experiment. He will be heading the program along with Dr. Boeke.

To learn more about GP-Write, click here:

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Human DNA Will Be Synthesized Within 5 Years, Prominent Geneticist States - Big Think

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Scientists Sequence DNA of Century-Old Pediatric Tumors – Mental Floss

Posted: at 5:24 pm

Say hello once again to Noah and Emma, who made the top of the baby names list for the third year in a row. The Social Security Administration has released the data on what Americans named their babies in 2016, and at the top, it looks almost exactly the same as last year.

The top 10 names for boys were Noah, Liam, William, Mason, James, Benjamin, Jacob, Michael, Elijah, and Ethan. Elijah is new on the list (it was 11th last year) replacing Alexander (which is now at 11). For girls, the top names were Emma, Olivia, Ava, Sophia, Isabella, Mia, Charlotte, Abigail, Emily, and Harper, which were all on the top 10 for 2015.

The naming picture isn't all the same as last year, though. A look at the list of the top 1000 names reveals where things might be changing. On the girls list, Caitlyn took a nose dive, dropping off the top 1000 list from 598 the year before. Also dropping off the list were Caitlin, Katelynn, Kaitlynn, and Kaelynn, andKaylin, Kaylynn, Katelyn, and Kaitlyn took significant tumbles.

However, another K name, Kehlani, made the biggest jump in popularity, making its debut on the top 1000 at 872 (from a previous 3359). The name Kaylani also made an impressive debut at 755, up from 1056 (Kehlani is the name of an up=and=coming singer/songwriter.)

A K name made a huge popularity jump in boys names as well. Debuting in the top 1000 at 901 is Kylo, as in Kylo Ren. Other names from the 2015 film The Force Awakens that moved up were Finn and Leia. Anakin was also up 132 places, to 778, the most popular its ever been. Another 2015 movie that seems to have made a name impact was Creed: The name debuted at 982, and Apollo moved up 167 places to 584.

Pop stars also had an effect on boys' names. A big boost was seen for Zayn, as in Zayn Malik. It was up 222 places to 421. Zayne, Zain, and Zane also moved up.

The rise of Harry by 101 places to 679 may have something to do with Zayns former bandmate Harry Styles, but could also have something to do with a resurgence of older, traditional names, some of which are back in the top 1000 after having disappeared for a while, including Ralph (now at 992), Alistair (at 882), and Howard (at 900).

Some traditional girls' names seem to be making a comeback too. There were big moves up the list for Mavis (789), Maxine (904), and Louise (897), which all rose about 200 places. To make room for them, some later, but once incredibly popular names like Kristen, Jenny, Denise, and Asia have now fallen out of the top 1000. For boys, the same has happened to Freddy, Tyrone, Deshawn, and Todd.

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Scientists Sequence DNA of Century-Old Pediatric Tumors - Mental Floss

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Unidentified Bodies Stacking Up At Cook Co. Morgue – Patch.com

Posted: at 5:24 pm


Patch.com
Unidentified Bodies Stacking Up At Cook Co. Morgue
Patch.com
When DNA testing is required, the remains are sent to the University of North Texas, Schlikerman said. But Cook County medical examiner Dr. Ponni Arunkumar told CBS 2 Chicago that funding problems at the university have caused some delays in testing.

and more »

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Unidentified Bodies Stacking Up At Cook Co. Morgue - Patch.com

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Climate change threatens tea — but its DNA could save it – CNN

Posted: at 5:24 pm

We already know much about the threat of climate change to staple crops such as wheat, maize and rice, but the impact on tea is just coming into focus.

Mapping the exact sequence of DNA in this way provides the foundation for extracting all the genetic information needed to help breed and speed up development of new varieties of the tea plant. And it could even help improve the drink's flavor and nutritional value.

In particular, the whole tea tree genome reveals the genetic basis for tea's tolerance to environmental stresses, pest and disease resistance, flavor, productivity and quality.

Breeders could more precisely produce better tea varieties that produce higher crop yields and use water and nutrients more efficiently. And they could do this while widening the genetic diversity of tea plants, improving the overall health of the tea plant population.

This is also an important milestone for scientists because it provides a deeper understanding of the complex evolution and the functions of key genes associated with stress tolerance, tea flavor and adaptation.

The new tea genome is very large, with nearly 37,000 genes -- more than four times the size of the coffee plant genome.

The process of evolution by natural selection has already helped the tea plant develop hundreds of genes related to resisting environmental stress from drought and disease.

These genes are like molecular markers that scientists can identify when selecting plants for use in breeding. This will allow them to be more certain that the next generation of plants they produce will have the genes and so the traits they want, speeding up the breeding process.

For example, we could also remove the caffeine biosynthetic genes from the tea plant to help breeding of low or non-caffeine varieties.

By boosting certain compounds at the same time, we could make tea healthier and develop entirely new flavors to make caffeine tea more appealing.

And its huge cultural importance, as well as its economic value, mean securing a sustainable future for tea is vitally important for millions of people.

The first successful sequencing of the tea genome is a crucial step to making tea plants more robust, productive and drinkable in the face of massive environmental challenges.

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Climate change threatens tea -- but its DNA could save it - CNN

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Genome sequence of fuel-producing alga announced – Science Daily

Posted: at 5:23 pm


Science Daily
Genome sequence of fuel-producing alga announced
Science Daily
The report, in Genome Announcements, comes after almost seven years of research, according to Dr. Tim Devarenne, AgriLife Research biochemist and principal investigator in College Station. In addition to sequencing the genome, other genetic facts ...

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New Canine Genome Map – The Bark (blog)

Posted: at 5:23 pm

A study published last month details one of the most diverse canine genome maps produced to date tracing the relationship between breeds. In examining the genomes of over 1,000 dogs, the map provided insight into two interesting findings.

The first showed that canines bred to perform similar functions, such as dogs from the herding or working groups, dont necessarily share the same origins.

Herding breeds are my favorite, holding beloved traits like intelligence and agility. So its surprising that these dogs may be more different than they seem.

The reason behind this convergence may also be why geneticists had difficulty mapping out herding dog lineages in the past. Study author Elaine Ostranger believes this happened because herding dogs emerged through selective breeding at multiple times in many different places.

In retrospect, that makes sense, says Elaine. What qualities youd want in a dog that herds bison are different from mountain goats, which are different from sheep, and so on.

The second finding shed light on an ancient type of dog that may have come to the Americas thousands of years before Christopher Columbus. Researchers have looked for the genetic legacy of these dogs in the DNA of modern American breeds, but have found little evidence until now.

Most of the breeds studied originated in Europe and Asia. But domestic dogs first came to the Americas thousands of years ago, when people crossed the Bering land bridge linking Alaska and Siberia. These New World dogs later disappeared when European and Asian dogs arrived in the Americas.

But the way two South American breeds, the Peruvian hairless dog and the xoloitzcuintli, are clustered together on the map suggest they could share genes not found in any of the others. This means those genes could have come from dogs that were present in the Americas pre-Columbus.

I think our view of the formation of modern dog breeds has historically been one-dimensional, says Bob Wayne, an evolutionary biologist at the University of California. We didnt consider that the process has a deep historical legacy.

Researchers now think that dog breeds underwent two major periods of diversification. Thousands of years ago, dogs were selected for their skills. This changed a few hundred years ago, when animals were bred for physical traits instead.

Bob says that, when it comes to genetics, studying dogs is a unique opportunity since no other animal has had the same level of intense deliberate breeding.

While its interesting to learn more about our dogs and where they came from, the scientists had practical reasons for creating this genetic database. They hope that this information can help future studies of canine and human diseases.

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Adam and the Genome The Dialogue Part One – Patheos (blog)

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Q. What promoted you to do this co-authored book?

A. While I never made the sciences anything central to my own intellectual interests over the years science pops up as important to some biblical discussion I am engaged in, not least when I was teaching undergraduates at North Park. Many of them were science majors and many of them had some solid commitments to science and it made them wonder how solid their faith could be. Over the years I read various books, L. Duane Thurmond to Francis Collins to my co-bloggers (RJSs) posts to John Walton to Dennis Venema. The last of whom I met at BioLogos event, told him how much I appreciated his work. Unknown to me Dennis had the idea of applying for a BioLogos grant, we worked on it together, we were successful and we were launched to write this book.

Q. Q. At first blush this appears to be a dialogue book, but in fact it isnt. Each of you do your own presentations with really not much apparent interaction. Why did you decide to do it this way? You dont question his genetics arguments, and he doesnt really question your Biblical and theological ones.

A. When I was a child I was somehow given a police hat a little cheap plastic one. One day I was discovered in the middle of a (not at all busy) street standing in the middle of the street stopping a car and then waving it along. I soon learned that was wrong and dangerous and I was told I was not a policeman. A parable: I have no business, as I didnt have any business directing cars as a child because I had a police hat, telling scientists what to say and they have no business telling me what to say. Each of us can hold the other a bit accountable, and that is in fact what happened in this book. Just because we are theologians and know the truth of the gospel doesnt mean we are to tell scientists what to do. But we can see in scientists where they infringe upon our territory and they can see it in us at times infringing on their territory. The book, thus, lets the science be science and the Bible be the Bible. The biggest problem for this discussion is that too many Bible people think they can tell scientists what to think when it is clear (to some of us) that the Bible is not making claims about science.

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Long-term use of apremilast for psoriasis associated with an acceptable safety profile – 2 Minute Medicine

Posted: at 5:22 pm

1. In a prospective observational study of over 1100 patients with moderate to severe plaque psoriasis, long-term use (156 weeks) of apremilast was not associated with an increase in common or serious adverse events compared to short-term use (52 weeks).

Evidence Rating Level: 2 (Good)

Study Rundown: Psoriasis is a chronic, inflammatory skin disease associated with a multitude of systemic manifestations and varying degrees of severity. Selecting the optimal therapeutic regimen requires the consideration of numerous factors including efficacy, disease severity, route of administration, cost, feasibility, safety, and tolerability. Due to the chronic nature of the disorder, evaluating the safety profile and tolerability of long-term medication use is critical. Apremilast is a novel oral phosphodiesterase 4 (PDE4) inhibitor that has previously demonstrated efficacy and safety for treating moderate-to-severe plaque psoriasis for up to 52 weeks. The purpose of this study was to assess the safety and tolerability of the long-term use of apremilast in patients with psoriasis.

This study is a prospectively evaluated 1,184 patients with plaque psoriasis from two phase 3 clinical trials evaluating the efficacy, safety, and tolerability of apremilast. At the conclusion of the study, there was no significant increase in common adverse events, serious adverse events, or the rate of drug discontinuation with the study dose of apremilast at 156 weeks compared to 52 weeks. This study is strengthened by its large sample size and the use of multiple trial sites. However, limitations include the lack of comparison to a control group and a sizeable patient dropout rate (21% patients remain at the end of study period), which may limit the external generalizability of these results. Additional prospective studies may be helpful to confirm these results.

Click to read the study in JAAD

Relevant Reading: Apremilast, an oral phosphodiesterase 4 (PDE4) inhibitor, in patients with moderate to severe plaque psoriasis: Results of a phase III, randomized, controlled trial (Efficacy and Safety Trial Evaluating the Effects of Apremilast in Psoriasis [ESTEEM]

In-Depth [prospective cohort]: The study prospectively followed patients pooled from 2, similarly designed 52-week, multi-site phase 3 randomized controlled trials evaluating the efficacy, safety, and tolerability of apremilast in patients with moderate-to-severe plaque psoriasis. Overall, 1184 patients were treated with apremilast and 249 (21.0%) patients completed 156-week of treatment. Safety and tolerability was assessed by physical exam, documentation of adverse events, and laboratory tests. Descriptive statistics and exposure-adjusted incidence rates (EAIR) were calculated. Compared to patients treated with apremilast for 0 to 52-weeks, patients treated for >104 to 156-weeks experienced less common adverse events such as diarrhea (1.3% vs. 17.3%), nausea (1.5% vs. 15.7%), upper respiratory tract infections (6.7% vs. 15.5%), nasopharyngitis (6.0% vs. 14.1%), tension headache (1.2% vs. 9.0%), and headache (1.7% vs. 6.3%). The EAIR for major cardiac events (0.4/100 patient-years vs. 0.5/100 patient-years), malignancy (1.6/100 patient-years vs. 1.2/100 patient-years), and serious infections (0.5/100 patient-years vs. 0.9/100) were similar between both the 0 to 52week and 0 to 156week apremilast-exposure periods.

2017 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

2 Minute Medicines The Classics in Medicine: Summaries of the Landmark Trials is available now in paperback and e-book editions.

This text summarizes the key trials in:General Medicine and Chronic Disease, Cardiology, Critical and Emergent Care, Endocrinology, Gastroenterology, Hematology and Oncology, Imaging, Infectious Disease, Nephrology, Neurology, Pediatrics, Psychiatry, Pulmonology, and Surgery.

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3 Best Stocks in Personalized Medicine – Madison.com

Posted: at 5:22 pm

Personalized medicine, also known as precision medicine or genomic medicine, is one of the most revolutionary trends shaping the future of healthcare. What is personalized medicine? The simple definition is that it's the customization of care to an individual's genetic profile. Several publicly traded companies stand out as leaders in the field.

Exact Sciences (NASDAQ: EXAS), Illumina (NASDAQ: ILMN), and Vertex Pharmaceuticals (NASDAQ: VRTX) are pioneers in personalized medicine -- each in a different way. Here's why I think these are the three best stocks in personalized medicine right now.

Image source: Getty Images.

Exact Sciences markets the CologuardDNA screening test for colorectal cancer. Cologuard has enjoyed the strongest product launch of any diagnostic test ever, with more than 450,000 people screened since late 2014. But there's much more potential growth. There are around 80 million patients in the U.S. alone who need to be tested for colorectal cancer, but many don't get tested because they don't want a colonoscopy. Exact Sciences hopes to capture around 30% of that market.

Cologuard should continue to drive Exact Sciences stock higher in the near future, but over the long run there are even more opportunities. Exact Sciences is collaborating with the Mayo Clinic to develop a platform for early detection of cancer by identifying DNA methylation markers. (Addition of methyl groups to DNA changes gene expression and potentially lead to cancer.) Significant progress has already been made in what could be a huge new market for Exact Sciences.

Although Exact Sciences isn't profitable yet, it's headed in the right direction. Analysts project the company will grow earnings by an average annual rate of 68% over the next five years. That seems quite possible with Cologuard continuing to pick up momentum.

Illumina is the leader in genomic sequencing, an essential tool that makes the personalized medicine revolution possible. The company began operations in 1998 and launched its first DNA sequencing system in 2007. Since then, Illumina's technological innovations havereduced the cost of sequencing by a factor of more than 10,000 and have reduced sequencing time per gigabase by a factor of approximately 3,500.

The company is continuing its track record of innovation with its recent launch of the NovaSeq sequencing system. Illumina thinks that the NovaSeq architecture could lead to reducing the cost of human genome mapping to $100, which would open up genomic sequencing to more customers than ever before. Selling more systems would be great news for Illumina, but the added consumables revenue would be even better: The company makes around two-thirds of its total revenue from consumables sales.

As a well-established company now, Illumina might not enjoy the tremendous growth that it did in the early days of genomic sequencing. However, Wall Street analysts still estimate that Illumina will grow earnings by an average annual rate of 14% over the next several years, thanks in large part to great prospects for NovaSeq.

Vertex Pharmaceuticals is leading the way in the use of personalized medicine to fight cystic fibrosis (CF). The company won U.S. regulatory approval in 2012 for its first drug, Kalydeco, as a treatment for CF patients with theG551D mutation. Another approval came in 2014 for CF patients with one of 10 other genetic mutations.In 2015, Vertex received approval for Kalydeco in treating children ages two to five with specific gene mutations that cause CF.

While Kalydeco has been successful, Vertex's biggest opportunities lie with other CF drugs. Vertex is still finalizing reimbursement arrangements in several European nations for Orkambi, but Orkambi has already become the company's top-selling product. Even greater prospects could be in store for a combination of Kalydeco and tezacaftor, for which Vertex plans to file for approval in the third quarter of 2017.

Analysts think that Vertex can grow its earnings by nearly 65% annually over the next five years. Although the stock looks expensive right now with shares trading at 39 times expected earnings, Vertex remains a good pick for investors with that kind of growth potential.

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3 Best Stocks in Personalized Medicine - Madison.com

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Gene sequencing study reveals unusual mutations in endometriosis – Science Daily

Posted: at 5:22 pm

Using gene sequencing tools, scientists from Johns Hopkins Medicine and the University of British Columbia have found a set of genetic mutations in samples from 24 women with benign endometriosis, a painful disorder marked by the growth of uterine tissue outside of the womb. The findings, described in the May 11 issue of the New England Journal of Medicine, may eventually help scientists develop molecular tests to distinguish between aggressive and clinically "indolent," or non-aggressive, types of endometriosis.

"Our discovery of these mutations is a first step in developing a genetics-based system for classifying endometriosis so that clinicians can sort out which forms of the disorder may need more aggressive treatment and which may not," says Ie-Ming Shih, M.D., Ph.D., the Richard W. TeLinde Distinguished Professor in the Department of Gynecology & Obstetrics at the Johns Hopkins University School of Medicine and co-director of the Breast and Ovarian Cancer Program at the Johns Hopkins Kimmel Cancer Center.

Endometriosis occurs when tissue lining the uterus forms and grows outside of the organ, most often into the abdomen. The disease occurs in up to 10 percent of women before menopause and half of those with abdominal pain and infertility problems. In the 1920s, Johns Hopkins graduate and trained gynecologist John Sampson first coined the term "endometriosis" and proposed the idea that endometriosis resulted when normal endometrial tissue spilled out through the fallopian tubes into the abdominal cavity during menstruation.

The new study, Shih says, challenges that view. The presence of the unusual set of mutations they found in their tissue samples, he says, suggests that while the origins of endometriosis are rooted in normal endometrial cells, acquired mutations changed their fate.

For reasons the researchers say are not yet clear, the mutations they identified have some links to genetic mutations found in some forms of cancer. They emphasize that although abnormal tissue growth in endometriosis often spreads throughout the abdominal cavity, the tissue rarely becomes cancerous except in a few cases when ovaries are involved.

For the study, Shih and his colleagues sequenced -- or figured out the genetic alphabet -- a part of the genome known as the exome, which contains all of the genes that can be expressed and make proteins. Specifically, they sequenced the exome of both normal tissue and endometriosis tissue removed during laparoscopic biopsies on 24 women, some with more than one abnormal endometrial growth. All had deep infiltrating endometriosis, the type that typically causes pain and infertility.

Seven of the 24 women were from Japan; the rest were patients at Lenox Hill Hospital-Northwell Health in New York City. The use of samples from Japanese women was selected because endometriosis before menopause occurs more often in Asian women (13-18 percent) than in Caucasian women (6-10 percent), Shih says.

The scientists looked for mutations, or abnormal changes in the DNA, and filtered out normal variations in genes that commonly occur among humans. Of the 24 women, 19 had one or more mutations in their endometriosis tissue that were not present in their normal tissue.

The type and number of mutations varied per endometriosis lesion and between each of the women. The most common mutations, occurring in five of the women, occurred in genes including ARID1A, PIK3CA, KRAS and PPP2R1A, all known for controlling cell growth, cell invasion and DNA damage repair.

Mutations in these genes have been associated with one of the deadliest types of ovarian cancer, called clear cell carcinoma. Nickolas Papadopoulos, Ph.D., professor of oncology and pathology at the Johns Hopkins Kimmel Cancer Center, led the team that completed the first sequencing of the clear cell ovarian cancer genome in 2010.

"We were surprised to find cancer-linked genes in these benign endometriosis samples because these lesions do not typically become cancer," says Papadopoulos, whose Ludwig Center laboratories performed the sequencing. "We don't yet understand why these mutations occur in these tissues, but one possibility is that they could be giving the cells an advantage for growth and spread."

In an additional group of endometriosis samples biopsied from 15 women at the University of British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replication. They found KRAS mutations in five of the 15 patients.

The scientists make clear that their sequencing studies may have missed mutations in some of the samples. Their data do not at this point reveal the aggressiveness of the lesions.

However, Shih says, he and his team are working on additional studies to determine if the mutations correlate with patients' outcomes. He says a molecular test that sorts lesions as more or less aggressive has the potential to help doctors and patients decide how to treat and monitor the progression and control of the disease. "We may also be able to develop new treatments for endometriosis that use agents that block a gene-related pathway specific to a person's disease," says Shih.

Women with endometriosis are typically prescribed anti-hormonal treatments that block estrogen to shrink lesions. When the disease occurs in the ovaries and forms a large cyst, which increases the risk of developing ovarian cancer, the lesion is usually surgically removed.

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Gene sequencing study reveals unusual mutations in endometriosis - Science Daily

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