MICROBIAL GENETICS: GENE FUNCTION PART 2

By: Sherry Smith

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MICROBIAL GENETICS: GENE FUNCTION PART 2 - Video

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The Franklim Genetics (My Father #39;s First Training Session at 62 Years Old)
Plus, some footage from one of my first sessions after the meet. My father does a ton of road cycling and his mobility is perfect for squats, so I think that we can get him to squat two plates...

By: Mauro Franklim

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The Franklim Genetics (My Father's First Training Session at 62 Years Old) - Video

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The Sims 3 - Perfect Genetics Challenge - Pt13 - Uncle Issac
If you like this video please leave a thumbs up, it really helps Open fully for *NEW SCHEDULE* info and social media links Weekly Schedule (Subject to change) Monday - Disney...

By: xSimSugar

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The Sims 3 - Perfect Genetics Challenge - Pt13 - Uncle Issac - Video

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Minecraft Total Meltdown - E19 Advanced Genetics Maschinen [deutsch]
Heute starten wir mit einem neuen Modpack. Keine Angst, die anderen Modpacks werden noch weitergefhrt. Das Modpack hrt auf den Namen "Total Meltdown" und ist ber den "Feed the Beast"...

By: BakermanLP

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Minecraft Total Meltdown - E19 Advanced Genetics Maschinen [deutsch] - Video

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How I Clean and Maintain My Curl Genetics Full Unit
Thanks so much for taking time out of your schedule to spend a few minutes w/ me....enjoy.....muah!! *****READ ME******READ ME*****READ ME******READ ME ...

By: MUA_Larisa

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How I Clean and Maintain My Curl Genetics Full Unit - Video

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A2 Genetics: dominant or recessive?
Why are some alleles dominant?

By: NottsAST

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A2 Genetics: dominant or recessive? - Video

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Let #39;s Play The Sims 3: Perfect Genetics Challenge (Part 1) Come Back!
Read Me Challenge Rules: http://modthesims.info/t/454886 Gameplay Links.

By: Simmerlover3

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Let's Play The Sims 3: Perfect Genetics Challenge (Part 1) Come Back! - Video

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How to Build and Define Your Arms
http://www.GetFitOver40.com - How to Build and Define Your Arms. Before I go out and make all kinds of promises, there is one thing that needs to be understood. Muscle growth is determined...

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How to Build and Define Your Arms - Video

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MRCPCH-1-Genetics Metabolic Disorder-05
World #39;s Best Successful Course Center for Post-Graduate Medical Examinations of The Royal Colleges of UK for MRCP| MRCS | MRCPCH | MRCOG For More Info Visit: @ http://www.ssmrcpuk.com ...

By: SsAcademy l Bangladesh

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MRCPCH-1-Genetics & Metabolic Disorder-05 - Video

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BETHESDA, MD - The Genetics Society of America (GSA) and the Drosophila research community are pleased to announce the winners of the GSA poster awards at the 56th Annual Drosophila Research Conference, which took place in Chicago, IL, March 4-8, 2015. The awards were made to undergraduate, graduate, and postdoctoral scientists in recognition of the research they presented at the conference. The fruit fly Drosophila melanogaster is one of the most versatile and widely used model organisms applied to the study of genetics, physiology, and evolution--and is an effective system for studying a range of human genetics diseases.

"These early career scientists are already making substantive contributions to our field," said Adam P. Fagen, PhD, GSA's Executive Director. "Conference attendees had the opportunity to learn about some exciting research advancements from these talented scientists."

Over 1,500 researchers attended the meeting, and the winning posters were selected by a panel of leading Drosophila researchers.

The winners of the 56th Annual Drosophila Research Conference GSA Poster Awards are:

Undergraduate winners

FIRST PLACE

Jonathan Cohen, Swarthmore College, Swarthmore, PA Poster title: "The microbiota induces Pvf2 to activate the antiviral ERK pathway in the Drosophila gut." Advisor: Sara Cherry, University of Pennsylvania, Philadelphia, PA

SECOND PLACE

Ashley Kline, Butler University, Indianapolis, IN Poster Title: "Characterizing a Role for the Misshapen Kinase in Growth of the Germline Ring Canals in the Developing Egg Chamber." Advisor: Lindsay Lewellyn

THIRD PLACE

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Nine early career researchers awarded for research presented at fruit fly conference

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LONDON (CNN) -- A new study has concluded that genetics as well as environment can influence the likelihood that a person will become a sexual offender.

Titled "Sexual offending runs in families: A 37-year nationwide study," the paper was published Thursday in the International Journal of Epidemiology. It was written by five experts from the Karolinska Institute in Stockholm, Sweden, the University of Ottawa in Canada, and Oxford University in the UK. It was based on nationwide Swedish data about 21,566 men convicted of sexual crimes between 1973 and 2009.

One of the authors, Seena Fazel of the Oxford University Department of Psychiatry, said realizing that genetics can increase the risk that someone will commit a sex crime could help governments target those most in need of help. Half-brothers show different degrees of risk

In an interview with CNN.com, Fazel acknowledged that isolating genetic factors can be difficult. But he said comparisons -- including of half-brothers who grew up in the same environment but had different mothers -- showed that the biological sons of offenders had a higher risk of becoming offenders themselves.

The biological sons of a sex offender were five times more likely than the norm to commit sex offenses, the study found. But their maternal half-brothers were only twice as likely to do so, the paper said.

"There is a genetic component," Fazel said. "It's not insignificant. It hasn't really be shown before in this field."

The study concludes that genetics accounts for 40% of the risk. But Fazel said that was perhaps too precise a figure, and it would be better to think of it as anywhere between 20% and 50%.

Information might help social services help families

Fazel described the study as an incremental step in increasing understanding of the factors that contribute to the risk of sexual crime. And considering that genetics influences people's sexuality in general, he said, the finding should not come as a complete surprise.

"We shouldn't discard the genetic component," he said. "It isn't all about environment."

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Genetics can make people more likely to commit sex offenses, study says

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Stocks quoted in this article:

Myriad Genetics, Inc. (NASDAQ:MYGN) calls are running at seven times the expected afternoon rate. The main reason for this uptick in activity is a pair of sizable bull call spreads that were initiated this morning, according to data from the International Securities Exchange (ISE).

Less than 10 minutes into the session, one trader bought to open a 200-contract lot of November 35 calls, and simultaneously sold to open a matching block of November 40 calls, expecting MYGN will rally up to $40 by November options expiration. About an hour later, an even more ambitious speculator bought to open 200 November 40 calls and sold to open an identical lot of November 44 calls, in the hopes the stock will reach $44 by the close on Friday, Nov. 20. It's unclear whether these two spreads are related.

Today's preference for calls merely echoes the withstanding trend -- at least, when looking at contracts in the front three-months' series. MYGN's Schaeffer's put/call open interest ratio (SOIR) stands at an annual low of 0.66, meaning short-term traders have never been so call-skewed in the last year.

At last check, Myriad Genetics, Inc. (NASDAQ:MYGN) was 0.9% higher at $36.23, and up 6.4% on the year. Historically speaking, though, the shares haven't traded above $40 since last July -- with the strike actually rebuffing a couple of rallies in more recent months -- and haven't touched $44 in six years.

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Are Fresh Highs Ahead for Myriad Genetics, Inc. (MYGN)?

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Maria Grazia-Roncarolo, MD: Stanford Childx Conference
Childx is a dynamic, TED-style conference designed to inspire innovation in pediatric and maternal health. The inaugural conference took place April 2-3, 2015, at the School of Medicine. Learn...

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Maria Grazia-Roncarolo, MD: Stanford Childx Conference - Video

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Martin Andrews: Stanford Childx Conference
Childx is a dynamic, TED-style conference designed to inspire innovation in pediatric and maternal health. The inaugural conference took place April 2-3, 2015, at the School of Medicine. Learn...

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Martin Andrews: Stanford Childx Conference - Video

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Michigan State University, UPenn and AGTCs Gene Therapy Proof-of-Concept for Achromatopsia
CNGB3- Achromatopsia is caused by a gene mutation that results in extremely poor visual acuity, photophobia, day blindness and complete loss of color discrimination. It affects dogs as well...

By: AGTC

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Michigan State University, UPenn and AGTCs Gene Therapy Proof-of-Concept for Achromatopsia - Video

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Gene Therapy VideoScribe

By: Jessica R

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Gene Therapy VideoScribe - Video

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Miami, FL (PRWEB) April 09, 2015

Global Stem Cells Group subsidiary Adimarket has been named the Latin America distributor for bone marrow technology leader Ranfac Corporation. The announcement coincides with Global Stem Cells Groups most recent expansion plans in Latin America, an ongoing effort to meet the regions growing demands for access to regenerative medicine and stem cell therapies.

Ranfac manufactures state-of-the-art surgical, radiology, hematology and orthopedic products including a range of bone marrow aspiration needles, each designed to provide a simple means of harvesting marrow from the patients sternum (breastbone) or the iliac crest (part of the pelvic bone) for a variety of medical procedures. Ranfacs newest technology is designed to harvest high quality bone marrow derived cells without the need for centrifugation.

Ranfac bone marrow technology is used by physicians and medical specialists worldwide. Global Stem Cells Group Advisory Board member Joseph Purita, M.D., a pioneer in the use of laser and stem cell therapies in orthopedic medicine, endorses Ranfacs bone marrow aspiration technology. Purita recently joined other specialists including fellow GSCG Advisory Board member David B Harrell, PhD, Brt, OF, FAARM, FRIPH, DABRM, in a trial study and white paper collaboration on Ranfacs new, non-centrifugal bone marrow technology.

Both Purita and Harrell endorse the Ranfac systems enhanced safety and ability to increase the concentrations of stem and progenitor cells during the bone marrow aspiration process.

Our ground-breaking hematology and orthopedic products for bone marrow access, aspiration, stem cell harvesting and biopsy procedures are designed to provide a more efficient result during critical procedures, says Ranfac CEO Barry Zimble. We believe that this is the perfect time to team with Global Stem Cells Group as our distribution partner in Latin Americas fast-growing medical community.

The collaboration between Global Stem Cells Group and Ranfac is another step toward GSCGs commitment to expanding its presence in communities that need and deserve access to cutting-edge regenerative medicine, not only in Latin America but also worldwide.

The timing couldnt be better to represent Ranfacs cutting edge bone marrow technology in the emerging markets of Latin America. Global is always looking to provide patients and practitioners with the best resources that regenerative medicine has to offer says Ricardo DeCubas, Global Stem Cells Group co-founder and Regenestem CEO.

For more information visit the Global Stem Cells Group website, email bnovas@stemcellsgroup.com, or call 305-224-1858.

About Global Stem Cells Group:

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Global Stem Cells Group Subsidiary Adimarket Named Latin American Distributor for Ranfac Bone Marrow Technology

Recommendation and review posted by Bethany Smith

Back Pain Stem Cell Therapy Doctors Tampa
http://Trinity-Spine.com (727) 372-9922 Stem Cell Therapy Doctor Reviews Everyone was so nice and helpful. They calmed my nerves about having to get this done, and even had really late hours...

By: Anderson Flanders

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Back Pain Stem Cell Therapy Doctors Tampa - Video

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Freeport, Grand Bahama (PRWEB) April 08, 2015

Amy was searching for a way to get her type 1 diabetes under control when she was referred to Okyanos, the leader in cell therapy. After years of regular visits to the hospital for diabetes, neuropathy and fibromyalgia, she was looking for something that would help her lead a healthier, more normal life. No stranger to pain, Amy has had more than her share of treatments, including meditation, biofeedback, physical therapy and medications, getting her to a point of functional with very bad flare ups.

Amy experienced a condition called diabetes burnout which can occur when one gets tired of the endless attention diabetes care requires. After such a period, just 19 and a sophomore in college, Amy woke up one day with swollen feet and persistent horrible pain. She went home to Florida for spring break and ended up in the hospital for six weeks with a neuropathy diagnosis. Neuropathy is common in older diabetics but at a young age, the diagnosis threatened what shred of normal she had left.

I couldnt sleep with a blanket and it was hard to have anything on my feet. I had to shake the bed to distract myself from the pain. My life consisted of sitting in a bath tub for 6 hours a day running water over my feet, Amy explained.

After deciding to undergo adult stem cell therapy, Amy said her doctor was extremely encouraging and really interested. However, Amy stated, Nothing could prepare me for how nice the facility was. Everything was explained and when it came time for the procedure, I had no doubts. It was great.

After some initial hesitation and a set of expectations, Amy says she couldnt be happier with her results. I can now sleep with a blanket. I dont shake the bed the entire night. My feet arent a constant thought in the back of my mind anymore. The other day it was about 4pm and I realized, I havent thought about my feet once today, she shared.

In addition to changes in her daily life, Amys post-cell therapy successes are still coming in. When Amy saw her doctor a few weeks after treatment, and a regular check-up, they discovered Amys A1C levels (test to measure average blood glucose level) were significantly lower.

My doctor hadnt ever dealt with this kind of situation before. I think what really blew her mind was the fact that my A1C has gone down so much. Before the cell therapy, I was at 8.9. Now Im at a 7.8. I havent been that low in years, said a delighted Amy.

According to the American Diabetes Association, over 20 million diagnosed Americans suffer from diabetes and roughly 1.25 million are type 1. Diabetes remains the 7th leading cause of death in the US.

Adult stem cell therapy has emerged as a new treatment alternative for those with auto-immune conditions like diabetes and are restricted in activities they can no longer do but are determined to live a more normal life. Okyanos cell therapy uses a unique blend of adult stem and regenerative cells derived from a patients own fat tissue, thereby utilizing the bodys own natural biology to heal itself.

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Okyanos Cell Therapy: From Burnout to Fearless

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(MENAFN - ProactiveInvestors)

Regeneus (ASX: RGS) has achieved a key milestone with the manufacture of its off-the-shelf stem cell therapy product Progenza for its First-in-Human trial for the treatment of osteoarthritis.

The company is on track to receive ethics approval and commence recruitment for the trial in the first-half of 2015.

Adding interest the company highlighted the benefit of using adipose or fat tissue over other tissue types by demonstrating the capacity to produce millions of therapeutic doses of Progenza from a single donor.

The production of commercial quantities of stem cells from a single donor is critical to maximise dose-to-dose consistency chief executive officer John Martin said.

This scale of production will minimise clinical trial and regulatory risks while reducing the cost of the final product.

One of the key advantages for manufacturing Progenza at industrial scale is that it uses stem cells sourced from adipose or fat tissue.

Adipose tissue is readily available from donors in large quantities and has significantly higher stem cells per gram of tissue than other tissue sources such as bone marrow or cord tissue.

Also adipose derived stem cells show greater capacity for expansion than stem cells from other tissue types.

Progenza adipose derived stem cells are adult stem cells they are not genetically modified like induced pluripotent stem cells (iPSC).

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Regeneus hits key stem cell manufacturing milestone

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15 hours ago

Researchers of the Nanobiology Unit from the UAB Institute of Biotechnology and Biomedicine, led by Antonio Villaverde, managed to create artificial viruses, protein complexes with the ability of self-assembling and forming nanoparticles which are capable of surrounding DNA fragments, penetrating the cells and reaching the nucleus in a very efficient manner, where they then release the therapeutic DNA fragments. The achievement represents an alternative with no biological risk to the use of viruses in gene therapy.

Gene therapy, which is the insertion of genes into the genome with therapeutic aims, needs elements which can transfer these genes to the nucleus of the cells. One of the possibilities when transferring these genes is the use of a virus, although this is not exempt of risks. That is why scientists strive to find an alternative. With this as their objective, emerging nanomedicines aim to imitate viral activities in the form of adjustable nanoparticles which can release nucleic acids and other drugs into the target cell.

Among the great diversity of materials tested by researchers, proteins are biocompatible, biodegradable and offer a large variety of functions which can be adjusted and used in genetic engineering. Nevertheless, it is very complicated to control the way in which protein blocks are organised, in order to form more complex structures which could be used to transport DNA in an efficient manner, as happens with viruses.

Professor Antonio Villaverde's group has discovered the combination necessary to make these proteins act as an artificial virus and self-assemble themselves to form regular protein nanoparticles capable of penetrating target cells and reaching the nucleus in a very efficient manner. In chemical terms, the key lies in a combination of cation-peptide and hexahistidine placed respectively at the amino and C-terminus ends of the modular proteins.

Researchers from the UAB have demonstrated that, when in the presence of DNA, these artificial viruses surround it and carry out structural readjustments so that the DNA is protected against external agents in a similar fashion to how natural viruses protect DNA inside a protein shell. Even the forms adopted by the resulting structures seem to imitate virus forms.

"It is important to highlight that this ability to self-assemble does not depend on the structural protein chosen and does not seem limited to one particular type of protein. This provides the opportunity to select proteins which could avoid any type of immune response after being administered, which is of great advantage in terms of therapeutic uses", Villaverde points out.

"These artificial viruses are promising alternatives to natural protein nanoparticles, including viruses, given that their limitations, such as a rigid architecture and a lack in biosecurity, can be less adequate when used in nanomedicine", states Esther Vzquez, co-author of the study and responsible for the Clinical Nanobiotechnology research line within the Nanobiotechnology Unit of the UAB Institute of Biotechnology and Biomedicine (IBB).

What occurs in chemotherapy as a cancer treatment can also be compared to the problems in gene therapy. Conventional treatments have an extremely high toxicity which limits their applicability. For this reason, UAB researchers, in collaboration with Professor Ramon Mangues from Sant Pau Hospital and Professor Ramon Eritja from CSIC, are now adapting these artificial viruses to be able to transport anti-cancer drugs directly to tumour cells. In this way, they will be capable of releasing large therapeutic doses in a very localised manner.

Explore further: New protein booster may lead to better DNA vaccines and gene therapy

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Researchers develop harmless artificial virus for gene therapy

Recommendation and review posted by Bethany Smith

Researchers of the Nanobiology Unit from the UAB Institute of Biotechnology and Biomedicine, led by Antonio Villaverde, managed to create artificial viruses, protein complexes with the ability of self-assembling and forming nanoparticles which are capable of surrounding DNA fragments, penetrating the cells and reaching the nucleus in a very efficient manner, where they then release the therapeutic DNA fragments. The achievement represents an alternative with no biological risk to the use of viruses in gene therapy.

Gene therapy, which is the insertion of genes into the genome with therapeutic aims, needs elements which can transfer these genes to the nucleus of the cells. One of the possibilities when transferring these genes is the use of a virus, although this is not exempt of risks. That is why scientists strive to find an alternative. With this as their objective, emerging nanomedicines aim to imitate viral activities in the form of adjustable nanoparticles which can release nucleic acids and other drugs into the target cell.

Among the great diversity of materials tested by researchers, proteins are biocompatible, biodegradable and offer a large variety of functions which can be adjusted and used in genetic engineering. Nevertheless, it is very complicated to control the way in which protein blocks are organised, in order to form more complex structures which could be used to transport DNA in an efficient manner, as happens with viruses.

Professor Antonio Villaverde's group has discovered the combination necessary to make these proteins act as an artificial virus and self-assemble themselves to form regular protein nanoparticles capable of penetrating target cells and reaching the nucleus in a very efficient manner. In chemical terms, the key lies in a combination of cation-peptide and hexahistidine placed respectively at the amino and C-terminus ends of the modular proteins.

Researchers from the UAB have demonstrated that, when in the presence of DNA, these artificial viruses surround it and carry out structural readjustments so that the DNA is protected against external agents in a similar fashion to how natural viruses protect DNA inside a protein shell. Even the forms adopted by the resulting structures seem to imitate virus forms.

"It is important to highlight that this ability to self-assemble does not depend on the structural protein chosen and does not seem limited to one particular type of protein. This provides the opportunity to select proteins which could avoid any type of immune response after being administered, which is of great advantage in terms of therapeutic uses", Villaverde points out.

"These artificial viruses are promising alternatives to natural protein nanoparticles, including viruses, given that their limitations, such as a rigid architecture and a lack in biosecurity, can be less adequate when used in nanomedicine", states Esther Vzquez, co-author of the study and responsible for the Clinical Nanobiotechnology research line within the Nanobiotechnology Unit of the UAB Institute of Biotechnology and Biomedicine (IBB).

What occurs in chemotherapy as a cancer treatment can also be compared to the problems in gene therapy. Conventional treatments have an extremely high toxicity which limits their applicability. For this reason, UAB researchers, in collaboration with Professor Ramon Mangues from Sant Pau Hospital and Professor Ramon Eritja from CSIC, are now adapting these artificial viruses to be able to transport anti-cancer drugs directly to tumour cells. In this way, they will be capable of releasing large therapeutic doses in a very localised manner.

###

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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UAB researchers develop a harmless artificial virus for gene therapy

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Responsible genealogists adhere to high standards of proof in their research, in the evidence that they present and in the conclusions they reach. I strongly believe that genetic genealogists should as well. When we make claims that are not supported by sound science, then we undermine the credibility of our field.

Experience has demonstrated to me that there is great folly in claiming small segments can be used as proof (yes, even supporting) in genealogical research.When I use the term "small segments" in this article, I am referring to unphased "matching" segments under 5 centiMorgans and I am addressing their use in matching, not admixture. A few genetic genealogists have argued that there are certain instances when smallsegments are not only helpful in our genealogical research, but reliable. I strongly disagree.

One of the many problems with utilizing small segments is that, in general, people tend to see evidence that supports their theories and reject evidence that does not. Because the nature of small segments is so random, as I will demonstrate, it is possible that an individual will see patterns where none exist in reality, such as in a cluster of tiny, meaningless "matching" segments. This also holds true for admixture analysis.

Blaine Bettinger already wrote a great blog explaining the work that has already been done on this issue along with some of his own comparisons, so I am going to concentrate on the multi-generational data to which I have access. Angie Bush has kindly allowed me access to her family's extensive data while she is unable to collaborate on this post since she is on a genealogy cruise. (Thanks, Angie!)

All of these examples are the first ones I looked at, so they are randomly chosen and not selected with bias. There is a huge amount of analysis that can still be performed on this data set. Since Gedmatch was down when I wrote this, I concentrated on Family Tree DNA data. When I am able to access Gedmatch again, I will add to my analysis.

First let's look at this simple chart of my data compared to James, a confirmed paternal fourth cousin, and then my father's data compared to that same cousin. As you can see, both my father and I have one substantial matching segment with James on Chromosome 4 (in purple). Some would argue that because we have one longer matching segment, that this makes the matching small segments reported more valid and thus can be more responsibly attributed to our known common ancestor.

Notice the segments highlighted in red in my chart. Those are all segments that were reported to be matching between me and James that do not show up as matches with my father. So, right off the bat, we can eliminate eight segments of what some might claim is supporting evidence of the known relationship with James. That is 66.6% of the segments under 5 cM, which is in line with what was found in the 23andMe study.

Next, look at the green segments. In this case, it appears that I inherited those from my father, but if you look closely, they are actually longer for me than for my father. This means that they are at least, partially, false positives or pseudo-segments. Incidentally, the one substantial matching segment we have in common (purple) is also reported to be a bit longer for me than for my father, which illustrates that it is questionable to rely too heavily on what appear to be exact assignments. In my list of matching segments, only the pink segments on chromosomes 2 and 3 are left as potentially fully IBD segments. Some will say that the fact that they persist from parent to child makes them more reliable indicators of a genealogical relationship. Perhaps, but there is no proof that that the pink segments weren't originally pseudo-segments interpreted as a match by the technology in my father's data and then passed to me through recombination of his two chromosomes. Does that sound far-fetched? Well let's see by looking at multi-generational data.

Please bear with me because this is going to take awhile. This chart is the matching DNA between Brynne and a known Bush cousin from her mother's father's father's branch of the family. The common ancestors are Frederick Bush and Martha White, so you can see that the expected path of inheritance for matching DNA between Brynne and this cousin is: Brynne >>Angie >> Grandpa >> Great Grandpa

Now, let's look at the same comparisons with the threshold lowered to 1 centiMorgan.

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Your Genetic Genealogist

Recommendation and review posted by Bethany Smith

A leading gene candidate that has been the target of breast cancer drug development may not be as promising as initially thought, according to research published in open access journal Genome Medicine.

Mutation in the gene PIK3CA is the second most prevalent gene mutation in breast cancer and is found in 20% of all breast cancers. This has led people to think these changes may be driving breast cancer. Yet these mutations are also known to be present in neoplastic lesions -pre-cancerous growths many of which are thought to be benign, that have not invaded the surrounding tissue.

Researchers from Stanford University wanted to better understand these neoplastic growths and how they related to the carcinoma. They sequenced the genes from tissue taken from the breasts of six women who had undergone a mastectomy, leading to a total of 66 samples, which included 18 carcinomas and 34 neoplastic lesions.

A specific mutation in the PIK3CA gene occurs in the same patient multiple times. This was found to be the case for four out of the six women. In two out of these four cases, this mutation occurs in the neoplastic lesions, which are not considered tumors, but does not occur in the invasive carcinoma.

One of the lead researchers, Arend Sidow, said: "There are currently several drugs in development that target PIK3CA, attesting to the fact that many companies and clinicians believe PIK3CA to be a promising target. Our finding that PIK3CA may recur multiple times at various stages of tumor or neoplastic development suggests that it is more of a moving target than one would like."

The researchers constructed phylogenetic trees to track the mutations back to their original cell to determine how the lesions were related to each other. From this, the researchers discovered that in each of the four PIK3CA-positive patients the mutation arose independently multiple times. This is something that has never been seen before. Following the PIK3CA mutation through these phylogenetic trees, and its lack of presence in the final carcinoma in two cases, would suggest that it is not driving the cancer, and instead suggests that it is a driver of benign proliferation.

This new information will have implications for the development of future drugs that target PIK3CA. Future studies should attempt to replicate this one with more patients and attempt to show whether PIK3CA mutations are ancestrally present in the tumor cells of positive patients, in which case it may be good target, or whether it is present in only a subset of tumor cells, in which case it is not a good target.

###

Media Contact

Shane Canning Media Manager BioMed Central T: +44 (0)20 3192 2243 M: +44 (0)78 2598 4543 E: shane.canning@biomedcentral.com

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We may be looking at wrong mutation for breast cancer treatment

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Genetic research helps to explain why tracing the source of an outbreak of Legionnaires' disease that claimed four lives has proven to be more complicated than scientists hoped.

A DNA study of bacteria samples taken from patients infected during the 2012 outbreak in Edinburgh shows that it was caused by several subtypes of the bacteria.

The unexpected discovery means that tracing the source of this - and any future outbreaks - will be challenging, researchers say.

There were 92 confirmed or suspected cases during the outbreak in 2012 in addition to the four deaths.

In a bid to prove where the infection came from, attempts had been made to grow samples of Legionella - the bacteria that causes Legionnaires' disease - from water samples taken from the suspected source. Legionella is difficult to grow in the laboratory and attempts to do so during the Edinburgh investigation proved unsuccessful.

As an alternative approach, scientists led by the University of Edinburgh's Roslin Institute looked at the entire genetic code of bacteria samples taken from patients.

The team worked with colleagues from the University's Centre for Immunity, Infection and Evolution, the Royal Infirmary of Edinburgh and the Scottish Microbiology Reference Laboratories, NHS Greater Glasgow and Clyde.

They identified four subtypes of the bacteria that had probably existed at the source for many months before the outbreak, the scientists say.

The subtypes varied in their genes, which made some more likely to cause life-threatening symptoms of infection. Some patients were infected with more than one subtype.

These findings suggest that the severity of disease may be influenced by the bacteria itself, as well as known factors such as lung disease and smoking that make patients more susceptible to infection.

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Gene study helps explain Legionnaires' probe complications

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