Category Archives: Genetics

Seattle Genetics buys biotech factory in Bothell – The Seattle Times

Seattle Genetics has agreed to buy the Bristol-Myers Squibb manufacturing plant in Bothell for $43.3 million, giving the biotech the ability to make its own bulk quantities of antibodies for treating cancer.

Special to The Seattle Times

Seattle Genetics has agreed to buy the Bristol-Myers Squibb manufacturing plant in Bothell for $43.3 million, giving the biotech the ability to make its own bulk quantities of antibodies for treating cancer.

Until now the Bothell-based company has relied entirely on contract manufacturers.

Seattle Genetics will continue to use contract manufacturers because of its international footprint, but this will give us our first manufacturing facility that we actually own, said Clay Siegall, the companys chairman, president and CEO.

About 75 people work at the Bristol-Myers facility on Bothells Monte Villa Parkway. Our hope is to keep the team intact, Siegall said Tuesday.

Seattle Genetics now leases seven buildings in its Canyon Park campus, which is about 20 blocks north of the new property.

The company paid $17.8 million for the land and the building, and an additional $25.5 million for the equipment and the building improvements, Siegall said. The deal gives Seattle Genetics ownership of a fully staffed and operating plant that requires little modification.

Were really excited about this, he said. It gives us the ability to control more of our supply chain.

The company will use the plant to make vials of antibodies that are used to treat cancers. Its leading product, Advetris, is now approved for treating patients with two kinds of lymphomas.

Revenue at Seattle Genetics has climbed steadily in the last five years, but so have the losses. Last year the company lost $140million on total revenue of $418 million, according to company reports.

The sale could set the stage for Bristol-Myers exit from the region.

In December the New York-based company said it would not renew a lease that expires in 2019 for its ZymoGenetics unit on Seattles Lake Union. Bristol-Meyers bought the ZymoGenetics research arm in the former Seattle City Light Steam Plant, as well as the production plant now sold to Seattle Genetics, in 2010 for $885 million.

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Seattle Genetics buys biotech factory in Bothell - The Seattle Times

Irvine-based CombiMatrix in $33 million merger deal with Bay Area genetics firm – OCRegister

A medical technologist at CombiMatrix examines live tissue looking for fetal cells to analyze. (File Photo)

From left, medical technologists Lilybeth Wilkens, Meg Purayil, and Catherine Marte work on live samples of tissue at CombiMatrix, a genetic testing lab in Irvine. (File Photo)

Catherine Marte works on live samples of tissue at CombiMatrix, a genetic testing lab in Irvine. (File Photo)

Chief Executive Mark McDonough stands in the lobby of his company, CombiMatrix Corp., in Irvine. The company hopes its testing method will be used to analyze cases of women whove had multiple miscarriages. (File Photo)

Irvine-based CombiMatrix Corp. has agreed to be acquired in an all-stock merger by San Francisco-based Invitae Corp. for $33 million.

The deal between two genetic biotech firms is subject to approval by CombiMatrixs stockholders and regulatory agencies.

CombiMatrix is a molecular diagnostics company that studies theremains of lost pregnancies, extracting DNA that is analyzed to uncover genetic abnormalities that can help explain why the women who gave the samples have had multiple miscarriages. It also does pre-implantation genetic diagnostics and screening, prenatal diagnosis andDNA-based testing forgenetic abnormalities.

In 2014, the companys chief executive, a former Navy navigator, told the Register the companys methods would soon become the standards for analyzing pregnancy loss and prenatal testing.

Merging with Invitae, which also specializes in genetic material and hereditary disorders, should expand the scope of CombiMatrixs reach.

By coming together with Invitae, we believe we can synergistically combine their scale, technology and expertise with the CombiMatrix product offering, human capital and sales channels to achieve even greater success in the future for the company and our shareholders, Mark McDonough, president and chief executive officer of CombiMatrix, said in a statement.

CombiMatrix will be a wholly-owned subsidiary of Invitae, according to documents filed with the Securities and Exchange Commission.

The company declined to provide any information not found in SEC documents, such as potential job impacts or executive changes.

For many people, preparing to have a child is their introduction to the power of genetics to inform health decisions, Sean George, chief executive officer of Invitae, said in a statement. The combination of Invitae and CombiMatrix will expand our ability to provide actionable answers to the complex questions that can arise when starting a family.

Testing has become more common as women have babies later in life. In 2016, theaverage age when women have their first child was 28. In 1970, it was 24.6, according to the CDC.

McDonough, in 2014, said he saw a market of up to $200 million a year for so called microarray prenatal testing and a$330 million marketfor recurrent pregnancy loss.

CombiMatrixspun off of Newport Beach-basedAcacia Research Corp. in 2007. It got its start supplyinglaboratories conducting microarray tests with biotech tools before founding a genetic testing lab.

In 2010, it moved to Irvine from Seattle.

Invitaeon Monday said it is also acquiring Cambridge, Mass.-based Good Start Genetics, another pregnancy-related molecular diagnostics company that specializes in preimplantation and carrier screening.

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Irvine-based CombiMatrix in $33 million merger deal with Bay Area genetics firm - OCRegister

Seattle Genetics, Inc.: Expanded Sales on Their Way (FDA Willing … – Motley Fool

Seattle Genetics (NASDAQ:SGEN) reported second-quarter revenue and earnings numbers, but the conference call focused mostly on potential near-term revenue growth for the biotech's one approved drug, Adcetris, with one expanded indication under review at the FDA and another to be there shortly.

Metric

Q2 2017

Q2 2016

Year-Over-Year Change

Revenue

$108.2 million

$95.4 million

13.4%

Income from operations

($59.4 million)

($33.4 million)

N/A

Earnings per share

($0.39)

($0.23)

N/A

Data source: Seattle Genetics.

Image source: Getty Images.

"Based on our review of pooled, blinded PFS events in the E2 trial, we have observed a lower rate of progression events compared with our projections. We plan to interact with FDA about the potential to unblind the trial prior to reaching the prespecified number of events. Based on the length of patient follow-up, we believe the trial data will be mature in 2018 and continue to expect to report E2 data next year." -- Seattle Genetics CEO and chairman Clay Siegall

There are a lot of terms in that quote, so let's break them down:

Blinded: The company doesn't know which drug the patients in the trial were treated with.

PFS: Progression-free survival, a measure of efficacy based on how long it takes a patient to progress or die -- whichever comes first -- while being treated.

E2: ECHELON-2, a clinical trial testing Adcetris in patients with mature T-cell lymphoma who haven't been previously been treated.

So to translate: Patients aren't progressing or dying as fast as expected, which is good news for patients and hopefully good news for Seattle Genetics if it's the patients being treated with Adcetris who are the ones responding better than expected, but we don't know for sure since the company is blinded. Since the trial is set up to end when a certain number of progression/deaths occur in both treatment arms combined, the trial is taking longer to complete than expected, so management plans to ask the FDA for permission to look at the data earlier.

Management increased 2017 guidance for ADCETRIS sales in the U.S. and Canada to a range of $290million to$310million. Not bad, but far from a blockbuster, which will only come from successful approval based on the ECHELON-1 trial. Investors will get a full look at that data at the American Society of Hematology meeting in December.

Beyond the aforementioned plan to get ECHELON-2 data earlier, Seattle Genetics has other clinical trial data coming. It recently started a phase 3 trial with Bristol-Myers Squibb testing Adcetris plus Bristol's Opdivo in relapsed or refractory Hodgkin lymphoma patients. And enfortumab vedotin, which is partnered with Astellas, will enter a phase 2 trial in metastatic urothelial cancer that management thinks should be enough to gain accelerated approval from the FDA if the trial is successful.

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Seattle Genetics, Inc.: Expanded Sales on Their Way (FDA Willing ... - Motley Fool

Myriad Genetics’ Stock Is Starting To Make A Run – Seeking Alpha

Healthcares been in the news a lot lately thanks to the Republicans efforts at healthcare reform. There are several bottoming heathcare and biotech stocks that could benefit from these efforts. One of those companies with potential is Myriad Genetics (MYGN). Myriad creates genetic tests to screen for genetic cancer risk and other diseases. Its currently coming out of a bottom and has the potential to continue moving up if it can capitalize on this growing market.

Myriad manufactures molecular diagnostic tests to screen for genetic dispositions to cancer, autoimmune diseases, and other maladies. The company is probably best known for its BRACAnalysis test. This test determines womens risk for breast cancer by detecting mutations in the BRCA1 or BRCA2 genes. Genetic mutations greatly increase the risk of developing cancer. So these type of diagnostic tests are growing more and more important for detecting cancer risks early. Advanced diagnostics also allow doctors to tailor their preventative medicine programs to better serve the patients individual needs. In fact, personalized medicine is expected to be the wave of the future. Theres also an increasing need for better diagnostic tools as the population ages. So Myriads products can fill an important niche in a growing market.

Myriads stock was in some trouble until recently. A monthly stock chart shows that MYGN was in a bear market for pretty much all of 2016. It finally started to bottom late in 2016, and completed its bottom in May of 2017. Its currently moving up strongly out of its bottom, but has retraced a bit over the past month. MYGNs all time high is at about $47, so this stock some room to move up.

Figure 1: Monthly chart of MYGN. Chart provided by FreeStockCharts.com.

A weekly chart confirms that MYGN completed its bottom last May. The chart shows very large and strong white candles coming out of the bottom, lacking indecisive wicks and tails. Small black candles form for about a month after each strong move up, likely due to profit taking. The stock is also currently undergoing some profit taking after the last strong move up in June. There have been green volume surges on the moves up, with green volume bars outnumbering the red bars since coming out of the bottom.

Figure 2: Weekly chart of MYGN. Chart provided by FreeStockCharts.com.

We can see the current retracement in more detail in the daily chart. Black candles have been larger and more numerous over the past month. We can see the strength of the green volume in May and June. But volume has been low in July, with red volume becoming more and more dominant. The chart also shows that high frequency traders (HFT) tried to sell down this stock on 7/21, possibly in response to a news release that day. It looks like the HFTs moved in at the start of the day, but failed to move the stock down much.

Figure 3: Daily chart of MYGN. Chart provided by FreeStockCharts.com

The chart indicators also confirm this weakness in the current price action. RSI is moving down steadily to the bottom of the chart. Stochastics has also moved down well into oversold territory. Both indicators look a little overextended but dont show any signs of a reversal quite yet.

Figure 4: Indicator charts for MYGN. Chart provided by FreeStockCharts.com

MYGN really looks a little week right now. There arent enough buyers to stop the slip-slide due to profit taking. The pattern of this stock, however, has been to move up strongly and then slowly slide back for a month. So well see if the stock continues that trend in August.

The charts show that MYGN has recovered nicely in 2017. So lets check the fundamentals and see if they justify the stocks uptrend. Myriads income statement shows that revenues started to turn around in the first quarter of fiscal year 2017. Revenues, however, were flat last quarter. Net income, on the other hand, has been inconsistent. Income has been up and down for the past several quarters. Costs have also continued to rise, but flattened out last quarter.

Figure 5: Income statement for MYGN. Data provided by Google Finance.

Myriad also took on a lot of debt in the second quarter of fiscal year 2017. The company started to pay down that debt last quarter, so at least its controlling its debt load. The current ratio is about 1.6, which is acceptable.

Figure 6: Balance sheet for MYGN. Data provided by Google Finance

Data from Nasdaq.com shows that the institutional holdings are above 100%. This usually means that some convertible bonds were executed, or that there was a direct stock sale to an institution. This should pattern out in the next quarter after Nasdaq.com updates its information. MYGN has 261 holders, so its pretty widely held for a small cap. And more funds started new positions or increased their positions compared to funds that sold out or decreased their holdings.

Figure 7: Institutional Holdings for MYGN. Data provided by Nasdaq.com.

A few giant funds are among the top holders of this stock, including Vanguard and Dimensional Fund Advisors. There are few giant banks in the mix as well, such as Blackrock and State Street. Some large banks have reduced their holdings in this stock though, which is interesting. The buy side institutions are doing the opposite; theyre increasing their positions or holding steady.

Figure 8: Top holders for MYGN. Data provided by Nasdaq.com.

Myriads financial performance improved last year but slowed down last quarter. Can it pick up again? A quick look at the last earnings report can show us what to expect. Myriad expects accelerating growth going forward, per CEO Mark Capone. Capone said, Coupled with meaningful sequential volume growth in all of our major pipeline tests including GeneSight, Vectra DA, Prolaris, and EndoPredict, we believe we are rapidly approaching an important inflection in our business where our new products will drive accelerated revenue growth and profitability.

That sounds promising, but we need more specifics. Luckily, the report also provides guidance for the fourth quarter of fiscal year 2017. The company expects revenues of $192-$194 million, which is flat to slightly down compared to last quarter. Earnings per share are expected in the range of $0.11 to $0.13, which is a large improvement over the $0.06 per share reported last quarter. Revenues for the full fiscal year are expected to be $763-$765, up just 1% over 2016. Earnings per share are expected to drop from 2016, down to $0.23-$0.25. This reflects the slowdown in earnings that was observed in the first three quarters of fiscal year 2017. The company needs to show that it can continue to grow revenues and earnings more consistently. Itll be interesting to see what the guidance is for 2018 in the next earnings release. Myriad is expected to report around August 8th.

MYGN has trended up fairly strongly out of its 2016 bottom. Its also in a market with a lot of potential, notwithstanding the healthcare shenanigans going on in Congress right now. The companys financials showed improvement earlier in the year, but have started to lag more recently. It needs to continue to grow revenues and earnings, otherwise the current profit taking could turn into broader selling. The 2016 high of $40 could also challenge the uptrend if the financials dont continue to improve. The stock shows some promise, but theres also some uncertainty about companys performance in the next fiscal year. The fact that large funds are interested in this stock bodes well for it though. And an earnings report that beats expectations could cause the stock to move up strongly again. Investors that are interested this companys technology should wait until the profit taking ends before entering this stock though. The $27 level looks like a good place to enter. For everyone else, its best to wait until the next earnings report to see the companys projections for fiscal year 2018.

Disclosure: I/we have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours.

I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

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Myriad Genetics' Stock Is Starting To Make A Run - Seeking Alpha

The DNA of ancient Canaanites lives on in modern-day Lebanese, genetic analysis shows – Los Angeles Times

The Canaanites lived at the crossroads of the ancient world. They experienced wars, conquests and occupations for millennia, and as a result evolutionary geneticists expected that their DNA would become substantially mixed with incoming populations.

Astonishingly, new genetic analysis shows that scientists were wrong. According to a new study in the American Journal of Human Genetics, todays Lebanese share a whopping 93% of their DNA with the ancient Canaanites.

The study also found that the Bronze Age inhabitants of Sidon, a major Canaanite city-state in modern-day Lebanon, have the same genetic profile as people living 300 to 800 years earlier in present-day Jordan.

Later known as Phoenicians, the Canaanites have a murky past. Nearly all of their own records have been destroyed over the centuries, so their history has been mostly pieced together from archaeological records and the writings of other ancient peoples.

Archaeologists at the Sidon excavation site have been unearthing ancient Canaanite secrets for the last 19 years in the still-inhabited Lebanese port city. The team has uncovered 160 burials from the Canaanite period alone, said Claude Doumet-Serhal, director of the excavation. They have found people of all ages in these Canaanite burials, she said children were buried in jars and adults were placed in sand.

Claude Doumet-Serhal / The Sidon Excavation

An aerial view of the Sidon excavation site.

An aerial view of the Sidon excavation site. (Claude Doumet-Serhal / The Sidon Excavation)

Aided by new DNA sampling techniques, a team of evolutionary geneticists including Marc Haber and Chris Tyler-Smith from the Wellcome Trust Sanger Institute stepped in.

They sequenced the whole genomes of five individuals found in Sidon who lived about 3,700 years ago. The team then compared the genomes of these ancient Canaanites with those of 99 Lebanese people currently living in the country, along with the previously published genetic information from modern and ancient populations across Europe and Asia.

First, they investigated the genetic ancestry of the Canaanites themselves. They found that these Bronze Age inhabitants of Sidon shared about half their DNA with local Neolithic peoples and the other half with Chalcolithic Iranians. Interestingly, this genetic profile is nearly identical to the one evolutionary geneticist Iosif Lazaridis and his team found last year in Bronze Age villagers near Ain Ghazal in modern-day Jordan.

This suggests that Canaanite-related ancestry was spread across a wide region during the Bronze Age and was shared between urban societies on the coast and farming societies further inland. This evidence supports the idea that different Levantine cultural groups such as the Moabites, Israelites, and Phoenicians may have had a common genetic background, the authors said.

The researchers were also able to determine that the genetic mixing of the Levantine and Iranian peoples happened between 6,600 and 3,550 years ago, a range they would be able to narrow down with more ancient DNA samples from the region.

Claude Doumet-Serhal / The Sidon Excavation

The buried remains of a Canaanite adult whose DNA was sequenced in the study.

The buried remains of a Canaanite adult whose DNA was sequenced in the study. (Claude Doumet-Serhal / The Sidon Excavation)

Next, the team wanted to compare the Canaanite genome with the genetic makeup of the people who currently inhabit the ancient Canaanite cities. To do this, they collected DNA from 99 Lebanese people Druze, Muslim, and Christian alike.

As expected, they found some new additions to the modern Lebanese genome since the Bronze Age. About 7% of modern Lebanese DNA originates from eastern Steppe peoples found in what is now Russia, but wasnt represented in the Bronze Age Canaanites or their ancestors. What surprised the team was what was missing from their genetic data.

If you look at the history of Lebanon after the Bronze Age, especially it had a lot of conquests, Haber said. He and Tyler-Smith expected to see greater genetic contributions from multiple conquering peoples, and were surprised that as much as 93% of the Lebanese genome is shared with their Canaanite predecessors.

Though a 7% genetic influx from the Steppe seems very small, that number might be covering some hidden complexities, said Lazaridis, who worked on the Bronze Age Jordanian samples but was not involved in the new study.

Not much is known about the migrations of these eastern Steppe populations, he said. If the genomes of the incoming people were only half Steppe, for example, 14% of the Lebanese genome could have come from the new migrants.

Haber and Tyler-Smith said they want to explore this complexity further. Who were those eastern migrants? Where did they come from? And why did they migrate toward the Levant region? Haber asked. Analyzing more samples from different locations and periods could lead to an answer.

The team also wanted to know if the individuals from Sidon are more similar to modern-day Lebanese than to other modern Eurasian populations.

Despite small genetic variations between the three religious groups caused by preferential mating over time, the Lebanese genome is not widely varied. As a whole, the Lebanese people have more genetic overlap with the Canaanites from Sidon than do other modern Middle Eastern populations such as Jordanians, Syrians or Palestinians.

The difference is small, but its possible that the Lebanese population has remained more isolated over time from an influx of African DNA than other Levantine peoples, Lazaridis suggested.

Claude Doumet-Serhal - The Sidon Excavation

An archaeologist sorts pottery at the Sidon excavation site.

An archaeologist sorts pottery at the Sidon excavation site. (Claude Doumet-Serhal - The Sidon Excavation)

The findings have powerful cultural implications, Doumet-Serhal said. In a country struggling with the ramifications of war and a society fiercely divided along political and sectarian lines, religious groups have often looked to an uncertain history for their identities.

When Lebanon started in 1929, Doumet-Serhal said, the Christians said, We are Phoenician. The Muslims didnt accept that and they said, No, we are Arab.

But from this work comes a message of unity. We all belong to the same people, Doumet-Serhal said. We have always had a difficult past but we have a shared heritage we have to preserve.

mira.abed@latimes.com

Twitter: @mirakatherine

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The DNA of ancient Canaanites lives on in modern-day Lebanese, genetic analysis shows - Los Angeles Times

Genetics plays major role in how infants visually explore social world, twin study reveals – News-Medical.net

July 12, 2017

New research has uncovered compelling evidence that genetics plays a major role in how children look at the world and whether they have a preference for gazing at people's eyes and faces or at objects.

The discovery by researchers at Washington University School of Medicine in St. Louis and Emory University School of Medicine in Atlanta adds new detail to understanding the causes of autism spectrum disorder. The results show that the moment-to-moment movements of children's eyes as they seek visual information about their environment are abnormal in autism and under stringent genetic control in all children.

The study is published online July 12 in the journal Nature.

"Now that we know that social visual orientation is heavily influenced by genetic factors, we have a new way to trace the direct effects of genetic factors on early social development, and to design interventions to ensure that children at risk for autism acquire the social environmental inputs they need to grow and develop normally," said lead author John N. Constantino, MD, the Blanche F. Ittleson Professor of Psychiatry and Pediatrics at Washington University. "These new findings demonstrate a specific mechanism by which genes can modify a child's life experience. Two children in the same room, for example, can have completely different social experiences if one carries an inherited tendency to focus on objects while the other looks at faces, and these differences can play out repeatedly as the brain develops early in childhood."

The researchers studied 338 toddlers ages 18 to 24 months using eye-tracking technology, developed at Emory, allowing them to trace young children's visual orientation to faces, eyes or objects as the children watched videos featuring people talking and interacting.

The children, who were part of the Missouri Family Registry, a database of twins that is maintained at Washington University School of Medicine, included 41 pairs of identical twins -; such twins share 100 percent of their DNA -; and 42 sets of fraternal twins -; who share only about 50 percent of their DNA. In addition, the researchers studied 84 unrelated children and 88 children diagnosed with autism spectrum disorder.

Constantino, with fellow investigators Warren R. Jones, PhD, and Ami Klin, PhD, of Emory University School of Medicine, evaluated the eye-tracking data. Each twin was tested independently, at different times, without the other twin present.

How much one identical twin looked at another person's eyes or face was almost perfectly matched by his or her co-twin. But in fraternal twins, eye movements in one twin accounted for less than 10 percent of the variation in the eye movements of his or her co-twin. Identical twins also were more likely to move their eyes at the same moments in time, in the same directions, toward the same locations and the same content, mirroring one another's behavior to within as little as 17 milliseconds. Taken together, the data indicate a strong influence of genetics on visual behavior.

"The moment-to-moment match in the timing and direction of gaze shifts for identical twins was stunning and inferred a very precise level of genetic control," said Constantino, who directs the William Greenleaf Eliot Division of Child and Adolescent Psychiatry at Washington University. "We have spent years studying the transmission of inherited susceptibility to autism in families, and it now appears that by tracking eye movements in infancy, we can identify a key factor linked to genetic risk for the disorder that is present long before we can make a clinical diagnosis of autism."

The effects persisted as the children grew. When the twins were tested again about a year later, the same effects were found: Identical twins remained almost perfectly matched in where they looked, but fraternal twins became even more different than they were when initially evaluated.

Autism spectrum disorder is a lifelong condition that affects about 1 in 68 children in the United States. It is known to be caused by genetic factors, and earlier work by the Emory University team had shown that babies who look progressively less at people's eyes, beginning as early as 2-6 months of age, have an elevated risk for autism. Meanwhile, Constantino and others in the group have studied how subtle behaviors and symptoms that characterize autism aggregate in the close relatives of individuals with autism, as a way to identity inherited susceptibilities that run in families and contribute to autism risk.

"Studies like this one break new ground in our understanding of autism spectrum disorder: Establishing a direct connection between the behavioral symptoms of autism and underlying genetic factors is a critical step on the path to new treatments," said Lisa Gilotty, PhD, chief of the Research Program on Autism Spectrum Disorders at the National Institute of Mental Health, which provided support for the study in tandem with the Eunice Kennedy Shriver Institute of Child Health and Human Development.

Those new treatments could include interventions that motivate very young children to focus their gazes more on faces and less on objects.

"Testing infants to see how they are allocating visual attention represents a new opportunity to evaluate the effects of early interventions to specifically target social disengagement, as a way to prevent the most challenging disabilities associated with autism," said senior author Warren R. Jones, PhD, director of autism research at the Marcus Autism Center at Emory. "Such interventions might be appropriate for infants showing early signs of risk or those who have been born into families in which autism has affected close relatives. In addition, learning why some infants who tend to not look at eyes and faces develop without social disability is another priority."

The small percentage of healthy children who tended to avoid looking at eyes and faces may provide researchers with insight on how to successfully compensate for those tendencies and therefore inform the development of higher-impact interventions that will produce the best possible outcomes for infants with inherited susceptibility to autism.

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Genetics plays major role in how infants visually explore social world, twin study reveals - News-Medical.net

Genetics and Genomics in Racing: Speed Isn’t Everything – TheHorse.com

Testing mares and stallions can help ensure foals are born free or at low risk of some genetic diseases.

Photo: iStock

Genetics refers to the study of genes and the way traits of conditions are passed down from one generation to another. Genomics, on the other hand, describes the study of all genes (the genome) including interactions of genes with each other and the environment. Although much of the genetic and genomic research done in Thoroughbreds is applied to racing performance, the full breadth of application of genetic and genomic research goes beyond that of faster horses.

Genetics and genomics allow for a more complete understanding of both simple and complex diseases. From a genetic perspective, simple is a term used to describe a disease that follows a single gene pattern of inheritance. These diseases are controlled by one gene, with other genes and outside factors having very little influence (i.e., the presence of the gene = disease). Diseases inherited this way are typically qualitative, where an animal either has the disease or it doesnt (i.e., lethal white foal syndrome).

Complex diseases, on the other hand, are usually controlled by not one, but many different genes and are often affected by environmental factors, such as nutrition and living conditions (e.g., cervical vertebral stenotic myelopathy, or wobbler syndrome). This combination of both genetic and environmental factors results in complex or multifactorial diseases. Basically, three different scenarios determine the manifestation of a complex disease:

As a result, complex genetic diseases can be extremely difficult to diagnose early and/or prevent using tradition methods such as pedigree analyses and veterinary evaluations. In some instances, a simple disease might even be classified as complex based on the inability of epidemiological studies and pedigree analyses to find common factors among cases.

Hydrocephalus, for example, is a developmental disorder that often results in stillbirth of foals and dystocia (difficult birth) in dams. Possible causes of the defect in horses could not be prove based on field data and pedigree analyses suggested the disorder to be complex. With this in mind, a genomic scan of 82 horses (13 cases and 69 controls) was performed and a small section of the genome was identified. Genomic sequencing was then performed on 10 horses (four cases and six controls) and the genetic cause of the disorder was pinpointed.

Figure 1

Two copies of a mutation that changes a "C" nucleotide to a "T" nucleotide results in hydrocephalus.

Photo: Equine Disease Quarterly

Ultimately, two copies of a mutation that changed a C nucleotide to a T nucleotide (Figure 1) resulted in the disorder. Although previously believed to be a complex disease, genetic and genomic methods were able to prove that the disorder was, in fact, simple, leading to the development of a genetic test that can help breeders avoid the disorder.

It is important to note the difference between a genetic test of a simple disease, such as hydrocephalus, and a genetic test for a complex disease (e.g., osteochondrosis). Genetic tests for simple diseases can confirm or rule out a genetic condition; however, genetic tests for complex diseases only help to determine an individuals chance of developing a genetic disorderan important distinction when genetic tests are used to help make breeding decisions. In either scenario, genetics and genomics in Thoroughbreds have far-reaching potential beyond that of breeding and selecting faster horses.

Understanding diseases caused by a single gene as well as complex diseases caused by multiple genes and the environment can lead to early diagnosis and targeted treatments. While the list of reasons a racehorse never reaches its potential might seem endless, genetics and genomics provide an opportunity to cross certain disorders off that list, thereby helping to eliminate or reduce the occurrence of those diseases.

CONTACTBrandon D. Velie, MS, PhDbrandon.velie@slu.seSwedish University of Agricultural Sciences Department of Animal Breeding and Genetics, Uppsala, Sweden

This is an excerpt from Equine Disease Quarterly, funded by underwriters at Lloyds, London.

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Genetics and Genomics in Racing: Speed Isn't Everything - TheHorse.com

Hendrix Genetics announce new US turkey hatchery investment – Poultry World (subscription)

Investment to the tune of US$25m has been announced by Hendrix Genetics in the form of a new commercial turkey hatchery in South Dakota, United States.

The hatchery will provide up to 30m day-old Hybrid poults and lead to the addition of 100 new temporary and permanent jobs at the site at Beresford.

The new hatchery will have the capacity for 35m hatching eggs and will be fitted with cutting edge equipment to ensure the highest biosecurity and poult quality.

Dave Libertini, Hendrix Genetics managing director, said: The new hatchery allows us to continue to deliver on our core focus of providing top quality genetics that match the needs of the market and our customers. Photo: ANP / Justin Sullivan

It is part of a substantial investment plan by Hendrix, which includes new hatcheries, egg production facilities and a modern transportation fleet and follows previous investments in grandparent facilities in Kansas and Nebraska.

Dave Libertini, Hendrix Genetics managing director, said: The new hatchery allows us to continue to deliver on our core focus of providing top quality genetics that match the needs of the market and our customers. This is a critical component of our plan to modernise the commercial turkey distribution infrastructure in the USA.

Matt McCready, Hendrix Genetics director of business development, added the hatchery would join the network of owned, aligned and contracted hatchery capacity set up to supply the strong demand for Hybrid genetics in the USA.

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Genetics May Dictate A Kid’s View of the World (Nature – MedPage Today

Genetics may play a larger role how children see the world, and how that world is altered when a child has autism, a small observational study found.

Researchers writing in Nature examined 250 typically developing toddlers who watched videos of someone speaking or children playing where they could look at either the eyes, mouth, body or surrounding objects. Identical twins tended to look at the same thing, and looked at the subject's eyes and mouth at the same time compared to non-identical twins and non-sibling pairs. But when examining a group of children with autism, those children looked at the subject's eyes and mouth much less.

The authors said that their findings could lead to more findings about which genes are involved in social engagement and how autism may have the ability to interrupt these genetic pathways.

2017-07-12T15:19:16-0400

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Genetics May Dictate A Kid's View of the World (Nature - MedPage Today

Greenwood native doing high-level genetics work in hometown – Index-Journal

Ah, summer vacation. The time of year when high school students laze on the beach, sleep in and stay up late binge watching their favorite TV shows.

But Greenwood native Emelee Guest is doing none of that. Her days have been occupied looking for mutations on Cullin-4B, a gene that has been linked to intellectual disabilities.

Ive been working with gene CUL4B and basically studying mutation E900X, which is basically a truncating mutation and Ive been studying the effects that a treatment called G-418 has on the mutation, is how the 17-year-old describes her work.

An incoming senior at the Governors School for Science and Mathematics in Hartsville, the 17-year-old is taking part in an intensive six-week research experience at the Greenwood Genetic Center under the guidance of Dr. Anand Srivastava, associate director for the facilitys Center for Molecular Studies.

Guest, who spent her freshman and sophomore years at Greenwood High School, said she was drawn to the field of genetics because she has relatives living with cystic fibrosis and epilepsy.

Part of my motivation is to help them. Ive watched them grow up with them, Guest said.

Guest is in elite company. Just one of 12 specialized, residential high schools in the country, the Governors School for Science and Mathematics which has an acceptance process offers more than 50 STEM classes with college and graduate-level opportunities and AP classes that enable students to earn multiple credits before starting their high education careers.

At my old school, we would sit there and learn, but there would be no application of it and there, we have labs once a week and they have more biology electives, Guest said. People say, get there, get anywhere, and its the hardest two years of your life.

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Srivastava, whos taken summer interns from the Governors School for more than 10 years, said the arrangement is mutually beneficial for research institutions like the Genetic Center, which gets access to the next generation of scientists while providing real-world experience for students.

They are very committed, they desire to learn because they have some goals, Srivastava said. We try to design a project that is part of some ongoing project and they get to work with somebody in my lab, which allows them to learn and become independent.

Guest, who is undecided between pursuing a career in genetics and ecology, said the practical skills of working at summer internship in a high pressure laboratory setting are impactful.

I dont think I could have guessed what it was going to be like, just because I havent a lot of experience just some little things in class and its nothing like the real thing, she said. Its a little stressful sometimes because its a lot of small things that have to correctly but once you get used to it, its really exciting.

Contact staff writer Adam Benson at 864-943-5650 or on Twitter @ABensonIJ.

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Greenwood native doing high-level genetics work in hometown - Index-Journal