SALT LAKE CITY, Dec. 03, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that multiple studies will be presented at the 2019 San Antonio Breast Cancer Symposium (SABCS) being held Dec. 10-14, 2019 in San Antonio, Tx.

"We are excited to present new data from several studies at SABCS this year, said Nicole Lambert, president of Myriad Oncology. "Our data represents Myriads commitment to advancing precision oncology for people with breast cancer and improving outcomes.

A list of the companys presentations at SABCS is below. Please visit Myriad at booth #113 to learn more about our portfolio of genetic tests for breast cancer. Follow Myriad on Twitter via @myriadgenetics and keep up to date with Symposium news by using the hashtag #SABCS19.

About Myriad myRisk Hereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

About riskScoreriskScore is a new clinically validated personalized medicine tool that enhances Myriads myRisk Hereditary Cancer test. riskScore helps to further predict a womens lifetime risk of developing breast cancer using clinical risk factors and genetic-markers throughout the genome. The test incorporates data from greater than 80 single nucleotide polymorphisms identified through 20 years of genome wide association studies in breast cancer and was validated in our laboratory to predict breast cancer risk in women of European descent. This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with individualized breast cancer risk.

About EndoPredictEndoPredict is a second-generation, prognostic test that aids personalized treatment planning for patients with early-stage breast cancer. EndoPredict has been validated in over 3500 patients with node-negative and node-positive disease and is the leading breast prognostic in Europe. In contrast to first-generation multigene prognostic tests, EndoPredict incorporates a 12-gene molecular score with known prognostic factors tumor size and nodal status. In clinical studies, EndoPredict demonstrated its robust ability to predict recurrence risk across multiple time-periods: 0-5, 5-10, and 5-15 years. EndoPredict provides clinically actionable information to physicians and patients as they consider the use of adjuvant chemotherapy and extended endocrine therapy.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to the Companys data across multiple genetic tests being featured at the 2019 San Antonio Breast Cancer Symposium being held Dec. 10-14, 2019 in San Antonio, Tx.; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

More:
Myriad Genetics to Present Multiple Studies on Breast Cancer at the 2019 San Antonio Breast Cancer Symposium - BioSpace

In the 1950s, Dmitri K. Belyaev began one of the most famous experiments in animal domestication. Dr. Belyaev, a geneticist at the Institute of Cytology and Genetics in Novosibirsk, Russia, selectively bred foxes that he had acquired from a fur farm, concentrating only on reducing their fear of humans.

Within 10 generations, he wrote in 1979, Like dogs, these foxes seek contact with familiar persons, tend to get close to them, and lick their hands and faces.

In a new paper in the journal Trends in Ecology and Evolution, several scientists have challenged a common interpretation of Dr. Belyaevs results, and have questioned whether scientists who study domestication have any common understanding of what the word means.

The authors dont dispute the essence of Dr. Belyaevs work: the selection for tameness, which is regarded as profoundly important in exploring the genetics and evolution of behavior.

But that wasnt all that Dr. Belyaev discovered. His foxes also showed physical changes, like piebald coats and floppy ears characteristics shared by dogs, cows and other domesticated animals.

Dr. Belyaev and the researchers who followed up his work suggested, as had Charles Darwin before them, that there might be a collection of physical traits that go along with tameness called domestication syndrome.

The authors of the new paper argue that this idea is undermined by an intriguing sub-chapter in the long history of the fur trade in Canada. The reaction to that criticism from other scientists has been mixed, reflecting contentious but cordial disagreements about what domestication is and how it happens.

The average pet lover may know the story of the foxes from a book by Lee Alan Dugatkin and Lyudmila Trut, who collaborated with Dr. Belyaev, called How to Tame a Fox (and Build a Dog).

Far fewer people probably know about the development of fox farming on Prince Edward Island, Canadas smallest province. This history is buried in plain sight, you might say, since you can learn about it easily if you visit International Fox Museum and Hall of Fame on the island.

The museum is not a common destination for evolutionary biologists who specialize in domestication. But one of them did visit back in 2015, and he was taken aback.

The late Raymond Coppinger, a biologist at Hampshire College in Massachusetts who was a major contributor to the study of dog evolution, toured the museum and returned full of questions.

He saw these pictures of spotted foxes, and they looked just like the Belyaev foxes, recalled Kathryn Lord, an animal behaviorist at the Broad Institute in Cambridge, Mass., and the first author of the new paper. Dr. Coppinger was her mentor at Hampshire College.

There have been academic reports as well, suggesting that the Russian foxes hailed from Prince Edward Island, Dr. Lord said: Different pieces of the story were all over, but nobody had put it together.

As it turned out, genetic tests showed that Dr. Belyaevs foxes did have roots in eastern Canada, which almost certainly meant Prince Edward Island. So the question bothering Dr. Coppinger and Dr. Lord was this: How much domestication had gone on before the famous fox experiment began?

She got the attention of Elinor Karlsson, a geneticist at the Broad Institute in whose lab Dr. Lord worked. And she drew in Greger Larson, a specialist in ancient canine DNA at the University of Oxford in England, who is deeply involved in questions of dog evolution and domestication. They began to refine the work Dr. Lord and Dr. Coppinger had already done.

Dr. Belyaev had plainly stated that his foxes were from farmed stock. So some domestication must have occurred before his experiment, said Anna Kukekova, a geneticist at the University of Illinois who researches the genetics of Russian foxes and has collaborated with Dr. Trut.

Dr. Belyaev recognized that fur farmers would have chosen animals that were at least somewhat tolerant of people, Dr. Kukekova said. But Dr. Belyaev also described his foxes as mostly uncomfortable with people, virtually wild animals. Now, Dr. Lord and her colleagues suggest otherwise.

Fox-farming pioneers on Prince Edward Island began by breeding wild-caught black foxes, also called silver foxes, a color variant of the red fox (Vulpes vulpes) common all over the world.

They were bred mainly for the look of the pelts. In 1910, one company sold 25 skins for $34,649.50, according to Silver Fox Odyssey: History of the Canadian Silver Fox Industry.

Then breeding stock became more profitable. Old proven breeders of good quality were valued during the last months of 1912 at from $18,000 to $25,000 a pair, according to a 1913 report by the Canadian government quoted in Silver Fox Odyssey. Eventually the industry declined, and there are only traces of it remaining.

The museum on Prince Edward Island has old photographs that show foxes looking very comfortable with human beings. And as Dr. Lord took a deep dive into fox-farming history, she found other sources suggesting the animals were already somewhat domesticated, including The Black Fox Magazine, a publication for people who hoped to make their fortune raising foxes for their pelts.

The magazine offers a glimpse into a bygone world. For example, an article by F. E. Muzzy in the January 1921 issue described the 1921 International Fox Show in Montreal. Mr. Muzzy wrote that one of the islands fox industry bigwigs, Leo Frank, brought a pair of tame foxes to town, and not only walked them on leashes but took them to a dance where the girls did the fox trot with these foxes around their necks.

Hearsay, of course, but a good story, given the other evidence.

Dr. Belyaevs claims in his landmark article were twofold. One, he had shown how quickly one could select for tameness and tolerance of human beings. The second was that breeding, or selecting for lack of fear in the presence of humans, also had brought about other changes, like floppy ears, spotted coats and differences in tail carriage.

He didnt use the term, but that suite of physical traits came to be known as domestication syndrome. And it was thought to cross species, showing up in cows and goats, for example, as well as foxes.

The idea of domestication syndrome, said Dr. Larson, has been appealing but not thoroughly examined. He, Dr. Lord and their colleagues looked at 10 papers that defined domestication syndrome and found that there wasnt one trait that was included in all the definitions. What the hell are we even talking about here? he asked.

The authors argue that the foxes already showed some of the physical traits that Dr. Belyaev described by the time he got them. His breeding may, however have affected how frequently the traits appeared.

The researchers also note that different species show different combinations of the traits that were proposed to be in the syndrome.

The paper provides the final nail in the coffin to the idea of a universal set of traits characterizing all domesticated animals, said Marcelo R. Snchez-Villagra, a professor of paleobiology at the University of Zurich who studies domestication and was not involved in the study.

But that was not surprising, he added, given other research showing varying processes of domestication. He appreciated the critical look at the fox experiment, because I also think its value has been overestimated.

Dr. Kukekova said she found that critique oversimplified, although she sympathized: I completely understand their frustration with domestication syndrome.

But many aspects of the fox domestication experiment were not presented correctly, she added.

Dr. Belyaev created a pattern of behavior totally different from that of the farmed foxes he began with, Dr. Kukekova said. The old photographs of the friendly foxes were not scientific evidence, she added, and there was no evidence that the foxes actively sought out human interaction, as Dr. Belyaevs did.

She cautioned, however, that there is an enormous difference between a domesticated animal and a pet. The foxes are domesticated, but they are not pets, she said.

Adam Wilkins, a biologist at Humboldt University in Berlin, found the new paper deeply flawed. In a personal letter to the authors, he argued that mammals do share a suite of physical characteristics that go along with tameness.

Dr. Wilkins has argued that mutations in cells in a part of the embryo called the neural crest are linked to behavioral and physical changes.

The fact that different kinds of domesticated animals have somewhat different sets of the affected traits is perfectly consistent with the idea of a syndrome, he wrote in an email.

Asked if there was a working definition of domestication, Dr. Sanchez-Villagra replied, There are as many as there are authors who have provided a definition.

Despite their differences, the spirit of collaboration and scientific discourse among researchers in the quite small field of canine evolution might best be captured by Dr. Wilkins at the end of his letter.

He tempered his criticisms with a friendly note, concluding, We clearly share a strong interest in the subject and I suspect a love of dogs. Here, I attach a picture of my personal favorite domesticated animal, my dog Wolfie.

See the article here:
Why Are These Foxes Tame? Maybe They Werent So Wild to Begin With - The New York Times

Breast cancer, cervical cancer, ovarian cancer, lung, throat, stomach and pancreatic," Manard said. "All immediate family members so, you know, seeing all that and helping them go through all that and watching them go through that I thought if I have a chance to prevent it, Im going to go with it.

The rest is here:
Preventive health care at the forefront of genetic testing at CHRISTUS Ochsner Wellness Screening and Genetics - KPLC

The remains of thousands of Aboriginal Australians are scattered around the world in museums and universities. Many institutions accept these remains should be returned to descendant communities, but its not always easy to do.

A major problem is that we often lack detailed information about where in Australia the remains came from. It has been estimated that up to a quarter of the human remains in Australian museums have poor contextual information.

Recently, we completed an Australian Research Council-funded project that focused on human remains from the Cape York Peninsula of Queensland, in collaboration with several local Aboriginal communities.

What we found suggests no single method such as DNA testing or using geological clues will be enough to reliably determine the origin of remains an interdisciplinary approach using all available evidence will be required.

Read more: Mungo Man returns home: there is still much he can teach us about ancient Australia

Over the past few years there has been considerable interest in the possibility that genetic testing can solve the repatriation problem. One aim of our project was to see if this approach would work in the Australian context.

In a study reported last year, we extracted genetic information from ancient human remains of known provenance and compared them to genomes obtained from living Aboriginal Australians.

We looked at two different kinds of DNA: nuclear DNA (this is the DNA that contains the genetic code for building your body) and mitochondrial DNA (the DNA of the tiny cell units called mitochondria that help to power your bodys cells).

When we used nuclear DNA, we were able to link ancient remains and living individuals from the same area with a high degree of accuracy. But when we only employed mitochondrial DNA from the ancient remains, the accuracy dropped markedly. The nuclear DNA analyses had a success rate of 100%, whereas the mitochondrial DNA analyses failed to identify a region of origin for 31% of the individuals and suggested the wrong region for 7% of them.

This is an issue because, for very old remains, its much more likely that we will be able to recover mitochondrial DNA than nuclear DNA. The reason is simply numbers: each cell contains hundreds or thousands of copies of the mitochondrial DNA but only one or two of the nuclear DNA.

There are other problems with relying solely on DNA for repatriation. The complexities of human social life (such as inter-tribal marriage) and the impacts of colonisation on Aboriginal Australians (such as displacement) mean that even full genome comparisons may not correctly identify an individuals tribal affiliation.

Another way to get information about where human remains are from is to measure the strontium in their bones and teeth.

Strontium is a common element, and our bodies use it as a building block. There are different types of strontium, called isotopes, and the ratio of these isotopes in the ground varies from place to place. So, if you measure the strontium isotope ratios in some remains and have a map of the different ratios at different places, it can help you work out where the remains came from.

Strontium isotope ratios have been used to guide repatriation elsewhere in the world, but our research in Cape York suggests this approach also wont solve the problem of repatriating Australian Aboriginal remains by itself.

In the course of our Cape York project, we completed the first regional scale analysis of strontium isotope variability in Australia. This involved collecting a large number of water, soil, and plant samples and creating a strontium isotope map or isoscape.

We found that locations often did not have unique values. This suggests that strontium ratios can narrow down the range of possible areas to which a set of remains could be returned, but on their own they are unlikely to pinpoint the exact area.

Read more: Where did you grow up? How strontium in your teeth can help answer that question

Based on the results of our studies with genomes and isotopes, we think a reliable protocol for repatriating Aboriginal remains will take more than one scientific technique. Genomics alone wont solve the problem. Nor will isotope geochemistry.

Instead, we need to develop an integrated interdisciplinary approach using DNA, isotopes, and whatever other lines of evidence are available (such as detailed analysis of bones, and even linguistics).

In order for this approach to work, we need to avoid creating a hierarchy among the scientific disciplines involved and focus instead on how they complement each other. In addition, we need to devise mechanisms that encourage sustained interaction and knowledge transfer between scientists from different disciplines.

We drew another major conclusion from our Cape York project: those of us involved in repatriation projects should aim higher. We need to put more time and energy into developing new techniques and assessing the accuracy of existing ones.

Equally importantly, we need to seek new ways of fostering collaboration among scientists from different fields and between scientists and Aboriginal communities.

Lastly, the repatriation of Aboriginal remains deserves the same level of rigour as the repatriation of historical military remains and modern missing person cases. Crucially, this means that we should employ the standard of proof for coronial investigations, which is on the balance of probabilities.

See original here:
Returning to country: we should use genetics, geology and more to repatriate Aboriginal remains - The Conversation AU

BOTHELL, Wash., and TOKYO, Dec. 2, 2019 /PRNewswire/ --Seattle Genetics, Inc.(Nasdaq:SGEN) and Astellas Pharma Inc. (TSE: 4503, President and CEO: Kenji Yasukawa, Ph.D., "Astellas"), today announced a clinical collaboration agreement with Merck, known as MSD outside the United States and Canada through a subsidiary, to evaluate the combination of Seattle Genetics' and Astellas' antibody-drug conjugate (ADC) enfortumab vedotin and Merck's anti-PD-1 therapy, KEYTRUDA (pembrolizumab),in patients with previously untreated metastatic urothelial cancer.

Under the terms of the agreement, the three companies will conduct and fund a global, registrational phase 3 clinical trial to be led by Seattle Genetics. The trial will be designed to evaluate the efficacy of the combination of enfortumab vedotin and pembrolizumab in patients with previously untreated locally advanced or metastatic urothelial cancer. The companies are working in consultation with regulatory authorities to finalize the trial design and currently plan to initiate the trial in the first half of 2020.

"We look forward to initiating a randomized phase 3 trial in patients with previously untreated locally advanced or metastatic urothelial cancer," said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. "Recent data from a phase 1b trial of enfortumab vedotin in combination with pembrolizumab showed evidence of clinical activity leading to the development of this phase 3 trial."

"An unmet medical need exists for previously untreated patients with metastatic urothelial cancer, and we are committed to studying enfortumab vedotin in combination with other agents in different stages of urothelial cancer," said Andrew Krivoshik, M.D., Ph.D., Senior Vice President and Oncology Therapeutic Area Head at Astellas. "We look forward to further evaluating enfortumab vedotin and pembrolizumab in this high unmet need patient population."

Enfortumab vedotin is currently under review by the U.S. Food and Drug Administration (FDA) for the treatment of adult patients with locally advanced or metastatic urothelial cancer who have received a PD-1/L1 inhibitor and who have received a platinum-containing chemotherapy in the neoadjuvant/adjuvant, locally advanced or metastatic setting. The PDUFA action date is March 15, 2020.

KEYTRUDA is a registered trademark of Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA.

About Urothelial CancerUrothelial cancer is the most common type of bladder cancer (90 percent of cases).1 In 2019, more than 80,000 people will be diagnosed with bladder cancer in the United States. Globally, approximately 549,000 people were diagnosed with bladder cancer last year, and there were approximately 200,000 deaths worldwide.2

About Enfortumab VedotinEnfortumab vedotin is an investigational ADC composed of an anti-Nectin-4 monoclonal antibody attached to a microtubule-disrupting agent, MMAE, using Seattle Genetics' proprietary linker technology. Enfortumab vedotin targets Nectin-4, a cell adhesion molecule that is expressed on many solid tumors, and that has been identified as an ADC target by Astellas.

The safety and efficacy of enfortumab vedotin are under investigation and have not been established. There is no guarantee that the agent will receive regulatory approval or become commercially available for the uses being investigated.

About Seattle Genetics Seattle Genetics, Inc. is an emerging multi-product, global biotechnology company that develops and commercializes transformative therapies targeting cancer to make a meaningful difference in people's lives. The company is headquartered in Bothell, Washington, and has a European office in Switzerland. For more information on our robust pipeline, visit http://www.seattlegenetics.comand follow @SeattleGenetics on Twitter.

About Astellas Astellas Pharma Inc., based in Tokyo, Japan, is a company dedicated to improving the health of people around the world through the provision of innovative and reliable pharmaceutical products. For more information, please visit our website at https://www.astellas.com/en

About the Astellas and Seattle Genetics Collaboration Seattle Genetics and Astellas are co-developing enfortumab vedotin under a collaboration that was entered into in 2007 and expanded in 2009. Under the collaboration, the companies are sharing costs and profits on a 50:50 basis worldwide.

Seattle Genetics Forward Looking Statements Certain statements made in this press release are forward looking, such as those, among others, relating to clinical development plans including the proposed phase 3 trial of enfortumab vedotin in combination with pembrolizumabas a potential treatment option for previously untreated metastatic urothelial cancer; the therapeutic potential of enfortumab vedotin including its possible safety, efficacy, and therapeutic uses, including in previously untreated metastatic urothelial cancer, and the potential FDA approval of enfortumab vedotin for the treatment of patients with locally advanced or metastatic urothelial cancer who have received a PD-1/L1 inhibitor and who have received a platinum-containing chemotherapy in the neoadjuvant/adjuvant, locally advanced or metastatic setting. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the possibility that ongoing and subsequent clinical trials of enfortumab vedotin, including the proposed phase 3 trial of enfortumab vedotin in combination with pembrolizumab, may fail to establish sufficient efficacy; that adverse events or safety signals may occur; that adverse regulatory actions or other setbacks could occur as enfortumab vedotin advances in clinical trials even after promising results in earlier clinical trials; and that the Biologics License Application submission and any future potential supplemental Biologics License Application submissions for enfortumab vedotin may not be approved by the FDA in a timely manner or at all or with the requested label(s). More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption "Risk Factors" included in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

Astellas Cautionary NotesIn this press release, statements made with respect to current plans, estimates, strategies and beliefs and other statements that are not historical facts are forward-looking statements about the future performance of Astellas. These statements are based on management's current assumptions and beliefs in light of the information currently available to it and involve known and unknown risks and uncertainties. A number of factors could cause actual results to differ materially from those discussed in the forward-looking statements. Such factors include, but are not limited to: (i) changes in general economic conditions and in laws and regulations, relating to pharmaceutical markets, (ii) currency exchange rate fluctuations, (iii) delays in new product launches, (iv) the inability of Astellas to market existing and new products effectively, (v) the inability of Astellas to continue to effectively research and develop products accepted by customers in highly competitive markets, and (vi) infringements of Astellas' intellectual property rights by third parties.

Information about pharmaceutical products (including products currently in development), which is included in this press release is not intended to constitute an advertisement or medical advice.

_____________________________1American Society of Clinical Oncology. Bladder Cancer: Introduction (05-2019). https://www.cancer.net/cancer-types/bladder-cancer/introduction.2International Agency for Research on Cancer. Cancer tomorrow: bladder. http://gco.iarc.fr/tomorrow.

SOURCE Astellas Pharma Inc.

https://www.astellas.com/us/

Continued here:
Seattle Genetics and Astellas Announce Clinical Trial Collaboration with Merck to Evaluate Enfortumab Vedotin in Combination with KEYTRUDA...

Part one of our three-part PAST LIVES series on Jewish genealogical research. Parts two and three will be available next week.

Jennifer Ortiz has a screenshot saved on her computer. Its an image that captures a moment that changed her life.

Right there on the screen: Stewart Bloom is your father, she said, describing the message she received when she logged in to see the results of her home DNA test.

Ortiz is one of millions of people who have taken a DNA test like the ones sold by 23andMe or Ancestry.com. Ortiz, who grew up Catholic in Utah, found out from the test that she was 50 percent Ashkenazi Jewish a result that led to the discovery that she was the child of Bloom, a Jewish photographer in San Francisco, and not the man who raised her.

Thats when my world changed, she said.

But what is 50 percent Jewish?

The question itself is a new wrinkle in the age-old debate of just what it means to be Jewish, which has been given a kick in the pants from the commercialization of a field of science that says it can tell you something new: For a price, you can now choose from one of seven commercial genetic tests to find out just how Jewish you are (among other things).

Its a very interesting, different and complicated and morally ambiguous moment, said Steven Weitzman, director of the Katz Center for Advanced Judaic Studies at the University of Pennsylvania and former director of the Taube Center for Jewish Studies at Stanford University.

In the past few years, commercial gene testing has taken off, driven by aggressive advertising that purports to tell the real story behind your ancestry. The magazine MIT Technology Review analyzed available data to estimate that more than 26 million people had taken at-home tests since they first went on the market more than a decade ago.

Its really beginning to seep into peoples consciousness, Weitzman said.

Sunnyvale-based 23andMe and Ancestry.com, headquartered in Utah, will ask you to spit in a tube and then, several weeks later, will give you a pie chart that might say, for example, 20 percent Swedish, 8 percent Greek and 11 percent German. Or, perhaps, 39 percent Ashkenazi Jewish.

But is there such a thing as 39 percent Ashkenazi? Yes, according to professor of epidemiology and biostatistics Neil Risch, director of UCSFs Institute for Human Genetics.

Its very easy to identify someone whos Ashkenazi Jewish, said Risch, who also does research on population genetics for Kaiser Permanente Northern California.

Thats because there are genetic markers distinct to the Eastern European Jewish population, partly due to a population founder effect, a way of saying that they descend from a small number of ancestors. Also, Jews in Europe tended to marry other Jews, making them endogamous.

Jews were not allowed to intermarry, Risch said. He added that on top of that, there were other external factors; for centuries, Christian churches forbade their flock from marrying Jews.

Ashkenazi Jews share a genetic profile so distinct that even commercial tests can spot it, unlike the difference between, say, Italians and Spaniards, who share a more diffuse Southern European profile. Risch said that although commercial genetic tests will show a percentage of your heritage from very specific regions in Europe, these results should be taken with a grain of salt.

Those kinds of subtle differences are challenging and have to be looked at with some skepticism, Risch said.

I call it entertainment genetics, said Marcus Feldman, a Stanford biology professor and co-director of the universitys Center for Computational, Evolutionary and Human Genetics, when you go and find out where your ancestors came from.

But for Ashkenazi Jews, heritage is pretty clear. Pick a street, Feldman said. Then pick any two Ashkenazi Jews at random walking down it.

Theyd be fifth to ninth cousins at the genetic level, Feldman said. Ashkenazi Jews are actually that closely related, all descended from a small group of people.

But what about Sephardic Jews looking to get a quantitative peek at their heritage? Theyre out of luck. 23andMe communications coordinator Aushawna Collins said that the company hasnt collected enough data on those populations yet to be able to pinpoint what makes them unique in terms of genes. Risch said its because genetically they are not distinct enough from other Mediterranean peoples.

But even if science can determine whether people have Ashkenazi genes, can one extrapolate from that how Jewish they are?

What is 39 percent Jewish? Thats nonsense, said Weitzman, a former professor of Jewish culture and religion at Stanford, where in 2012 he started an interdisciplinary course on Jewish genetics with biology professor Noah Rosenberg. You cant be half Jewish. Youre either Jewish or not Jewish.

Rabbi Yehuda Ferris of Berkeley Chabad would agree.

You cant be part kosher, you cant be part pregnant, you cant be part Jewish, he said.

However, even Ferris and his wife, Miriam, have done at-home DNA tests although they did it to find relatives, not to figure out their Jewishness.

It was extremely shocking, Ferris said dryly. Im 100 percent Ashkenazi Jewish and shes 99 percent.

For zero dollars we could have told you the same thing, Miriam Ferris added.

As an Orthodox rabbi, Ferris goes not by percentages but by the matrilineal rule in establishing Jewishness.

If your mother is Jewish, youre Jewish, he said. Thats it.

The concept of matrilineal descent is an old one, but genetics are giving it a new twist, especially in Israel where the Chief Rabbinate has used gene testing to weigh in on the crucial question of who is a Jew. (In Israel, immigrants must prove their Jewish status to marry, be buried in a Jewish cemetery or undergo other Jewish life-cycle rituals.)

Thats an interesting and disturbing new phenomenon, Weitzman said.

The way the rabbinate has used gene testing is by examining mitochondrial DNA, which gives much less information than testing of the more extensive DNA in the cell nucleus, which is what home tests do. But unlike nuclear DNA, mitochondrial DNA is almost always passed from mothers to their children. This dovetails nicely with the notion of matrilineal Jewish descent, and rabbis in Israel have now begun accepting mitochondrial DNA testing for people, primarily immigrants or children of immigrants from the former Soviet Union, who have inadequate documentation of their Jewish status.

The test can identify Jews descended from four founder women ancestors. However, it can be used only to prove a positive, as half of Ashkenazi Jews dont have the characteristic mitochondrial chromosomes at all. Still, for people who have no paper or eyewitness proof of Jewish descent, genetic testing can be the deciding factor.

When you dont have enough information, it might be the linchpin, Ferris commented.

The rabbinates use of mitochondrial DNA testing is controversial, with some critics calling it humiliating. The Yisrael Beiteinu party, which represents Russian-speaking immigrants, is trying to challenge it in Israels Supreme Court.

Outside of Israel, too, not everyone is comfortable with using science to figure out who is a Jew. Its something the world has seen before.

People were also using science to figure out who people were. We called that race science, Weitzman said.

And the people who did it?

I mean Nazis, he clarified.

Genetics have been used against Jews in the most virulent way, said UCSFs Risch. But he thinks that Jews are inclined right now to trust the science because its a field filled with Jewish researchers. We love science because were all the scientists! he said.

In the past two decades, there has been a rash of research on the genetic components of Judaism, a boom coinciding with the Human Genome Project, which ran from 1990 to 2003. Much of it was done by Jewish scientists. The initial research on mitochondrial DNA in Ashkenazi Jews was done in 2006 by Israeli geneticist Doron Behar; he is now CEO of genetic analysis company Igentify.

In 1997, a study of traits in the Y chromosome, passed only from father to son, found that more than 50 percent of men with the last name Cohen (or Kahan or Kahn or other variants) had a certain marker, giving some support to the idea of a hereditary Jewish priesthood.

In 2010, medical geneticist Harry Ostrer did work that found various communities of Jews shared a common Middle East ancestry. And in 2009, Feldman, who is also director of Stanfords Morrison Institute for Population Biology and Resource Studies, studied to what degree Jewish groups in different places were related. (This last topic has been studied further, including by Risch.)

But Feldman himself has experienced firsthand how his own research has been twisted for what he called racist conclusions when economists drew inferences from his work with fellow Stanford professor Rosenberg to suggest theres a genetic basis for economic success.

We were outraged because those two people were using our data to make these quite racist statements, Feldman said.

Feldman said its common for the public to seize on genome research and try to use it to explain everything from intelligence to criminality; he said scientists have a responsibility to be on alert all the time.

Theres been too much emphasis on the genetic basis of a lot of human behaviors, he said. When genetics is your hammer, everything becomes a nail, he said. So it doesnt matter what human trait youre interested in.

Even if geneticists like Feldman consider home testing kits entertainment, their popularity shows that people are interested in using genetics to figure out who they are, including how Jewish. Weitzman said it might be connected to how hard it is for most Ashkenazi Jews in this country to trace their roots; Jews in Central and Eastern Europe didnt have last names until the 18th or 19th centuries.

A lot of us, we dont know a lot about our ancestors prior to our grandparents, Weitzman said.

So in searching for ancestors, people are turning to the companies that promise results. 23andMes Collins told J. theyd sold 10 million kits in total, and Ancestry.com in May issued an announcement claiming to have tested more than 15 million people.

Cantor Doron Shapira of Peninsula Sinai Congregation in Foster City is one of them. He was always into Sephardic music and food. As a percussionist, he felt drawn to the rhythms.

People have very often asked me, Are you Sephardic? he said. And I always said, Not to my knowledge.

Last year he saw an ad for Ancestry.com, got his DNA testing kit and sent it in with his sample.

It comes back 94 percent no surprise Russian Ashkenazi Jewish European roots, he said.

But the test also revealed 6 percent of his roots were other, including from Southern Europe and the Iberian Peninsula. Maybe Shapira had a Sephardic ancestor after all?

He started to think about which side of the family it could be and considered asking his mom to get tested. It wasnt that the result suggesting a Sephardic ancestor changed his perception of who he was, he said, but it validated something about himself that he and others had always noticed.

I got a little bit excited, he admitted.

And then he got an email update from Ancestry.com.

It says, scratch that, youre now 100 percent Ashkenazi Jewish, he said with a laugh.

But even with the change in result, Shapira says hes not against using home genetic testing to get a peek into his ancestry.

Im inclined to do another one, he said. Just to see if its consistent.

Many others are taking the tests and their results very seriously. People are making life decisions now on the results of this test, Weitzman said. Theyre deciding whether theyre Jewish or not.

Thats what Ortiz has done. If you ask her now if shes Jewish, the 53-year-old has an answer.

Yes, I am, she said. Ill say yes.

She had never been told that the father who raised her was not her biological dad, and when she confronted her parents, they denied it. But she knew it was no mistake when the DNA testing company delivered a startling message with the name of her biological father thats the screenshot shes got saved on her computer.

Ortiz immediately made contact with Stewart Bloom and flew down to San Francisco last year from her home in Portland to visit. There was a lot to process, of course, but for Ortiz its been a wonderful thing and that includes embracing Jewishness, something she said shed always been drawn to.

When I found out Im actually 50 percent, on one level it didnt surprise me, she said.

Now shes converting that number into something deeper: Shes planning a ceremony in Portland with a Jewish Renewal rabbi not a conversion, but something to celebrate her new identity.

It would help me take a step into Judaism, she said. Not just from a biological level but a little more than that.

Thinking about Jewishness in terms of biology is something that bothers Emma Gonzalez-Lesser, a Ph.D. candidate at the University of Connecticut and the author of an article titled Bio-logics of Jewishness. If being Jewish is something in the genes, then that excludes people who have come to Judaism in other ways.

People who convert may not be seen as legitimately Jewish as someone who has 30-something percent ancestry from a genetic test, she said.

And beyond that, she added, there are some ideas underlying the current fascination with genetics that arent being questioned, like the question of whether Jews are a race.

I think part of our societal fascination with genetic testing really rests on this assumption that race is really this biological function, she said.

(Prominent researchers like Feldman, Rosenberg and Risch have been caught up in the sensitive question of whether studying the genomics of populations leads to a biological definition of race; the issue has been written about at length and remains controversial.)

Weitzman said the interest in ancestry reflects a trend around the world of turning to biology, genetics and race as a way to encode identity.

Part of whats going on in the Jewish world right now is a reflection of a broader revival of ethno-nationalism, Weitzman said.

In addition, at a time when American Jews are less likely to go to synagogue or practice rituals in the home, they face more questions about what it means to be Jewish. That may incline them to trust in science to determine their identity, especially when they have only a few dusty boxes of papers, if that, to show their family history. That makes Jewish genes a door into the past.

Theres something hiding inside of you that is preserving your identity intact, Weitzman said. To me, thats part of the appeal.

Read more from the original source:
Who is a Jew? DNA home testing adds new wrinkle to age-old debate - The Jewish News of Northern California

Country doctor James DeLine talks about his work with the Amish

In 33 years at the La Farge clinic, Dr. James DeLine has gained the trust of many Amish. He understands their beliefs and their financial limitations, and he leaves the medical decisions to the families.

Mark Hoffman, Milwaukee Journal Sentinel

MILWAUKEE, Wis.It is 5 degrees below zeroand a light powdering ofsnow swirls across the roads of Vernon County.Afew horses and buggies clop through the chillmorningair, but Perry Hochstetler leaves his buggy at the family farmand has a driver take him to his doctors appointment.

TheHochstetlersare Amish. With no health insuranceanda modest income, they cannot afford most doctors.

They can afford James DeLine, once the lone doctor in the western Wisconsin village of LaFarge. Population 750.

When he became the village doctor in 1983, DeLine had no experience treating the Amish and no idea the crucial role they would play in his work. Today, about 20% of the doctors patients are Amish or Old Order Mennonite, part of a Christian population called Plain People. They are known for their separation from the modern world and adherence to a simple lifestyle and unadorned dress.

Something of a throwback himself,DeLine, 65, is a short,bespectacledman with a walrus mustache, a doctor who carries a brown medical bag to house calls. For years, he carried his equipment in a fishing tackle box.

He knows the families on every local farm and their medical histories. He knows whos beenborn,andcalls on the mothers and infants to make sure they are healthy. He knows whos dying, and looks in on them in their final days, sitting by their bedside, talking in a gentle voice, making sure they have what they need for pain.

Amish farms are clustered together along Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

As a young doctor,DeLine never imagined he would find himselfsomedaywith one foot planted solidly in medicines past, the other in its future.

The doctor who makes housecallsalso collaborates with English and American geneticists studying some of the rarest diseases on Earth. Some occur at much higher levels among the Amish, Mennonites and other closed communities that dont allow marriage to outsiders. This prohibition increases the likelihood that when a rare, disease-causing mutation appears in the community, it will take root and pass from generation to generation.

It has taken DeLine and his staff years to gain the trust of Plain People, some of whom are wary of medicine and technology.Often,theyfear that going to a hospital or clinic will mean surrendering the decision-making to doctors who neither respect their beliefsnor understand their financial limitations.

DeLine, not a religious man himself, accommodates the beliefs of patients and parents; he has always viewed them as the ultimate decision-makers.

At first glance, Hochstetler seems an unlikely candidate for a rare disease or a health problem of any kind. Work at the local sawmill and his family farm has given the 26-year-old father of two a lean muscular frame. Beneath the skin lies another story.

He has the vasculature of an 80-year-old smoker,DeLinesays.

He inherited the genetic mutation that causes an illness most people have never heard of: sitosterolemia. Only 100 cases have been described in the medical literature, but DeLine has 13 patients with the condition, including four of Hochstetlers 10 siblings and their father.

The disease prevents the body from getting rid of lipids from vegetable oils and nuts, causing them to build up and clog the arteries.

Since diagnosing the disease,DeLinehas treated Hochstetler with a cholesterol-lowering drug called Zetia.

Without diagnosis and treatment,Hochstetlercould by now havesuffereda heart attack, a trauma that Zetia should delay, thoughfor how long isuncertain. There is no cure for sitosterolemia.

Im not afraid, he says. If I die young, I guess Im going to die young. I cant do much about it. I cant say I ever get low and have the blues about it.

Saving grace: The story of an Amish community and the fight for their children's lives

A blizzard almost kept the doctor and village from their appointment.

It was February 1983. DeLine drovehis familyover hilly country roads, staring out the windshield into flurries and fearingtheir carmight not makeit to LaFarge.

DeLinehad just completed his residency at the Wausau Hospital Center. Now, a10-membercommitteeof localswas recruiting him to fill LaFargesvacancy for a doctor. Thevillage had beenwithout one for a couple ofyears.

The doctor liked the friendly villagers, a welcome change from the suit-and-tie types hed interviewed with in other places.

He was 28 years oldwith a bad car, a growing family and $30,000 in unpaid student loans. The average salary for a family doctor in America was then around $80,000, enough to settle down and beginpaying offhis debt.

But the people of LaFargewantedDeLine needed him. Their offer: $20,000.

That would have to coverDeLinesannual salary, the salary of an assistant to answer the phones and handle billing, plus all the clinic equipment andexpenses. .

DeLine took the offer.

The photo of country doctor Ernest Guy Ceriani, made famous in a groundbreaking Life Magazine photo essay by W. Eugene Smith, hangs on James DeLine's refrigerator door at his home in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

DeLinegrew up in New Lenox, Illinois, a farming community outside Joliet.

The village of 1,750 was mostly cornfields. DeLine remembers it asthe kind of place where children grew up building forts during the day and watching bonfires at night. DeLine had twin sisters five years younger than him. Their father owned a restaurant.

From an early age, though, itjust seemed like Id be going to medical school. It was meant to be.

DeLineremembers nights when he could hear his mother struggling to breathe. He could hear his father, too, trying to persuade her to go to the hospital.

She had rheumatic heart disease and took blood thinners starting in her 30s. She sometimes joked about needing a valve job.

DeLinewas 17 when his mother went in for the procedure.

He saw her once after surgerybut I didnt like how she looked.About the third day, his mother suffered cardiac arrest. She was resuscitated but had sustained a severe brain injury. Days later, the family shut off life support. She was 42.

One week after her death, JamesDeLineset out to become a doctor,leavinghome for the University of Illinois in Urbana-Champaign.

Physician James DeLine eases into his work day starting at 5 a.m. at his home in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

University life was hard.DeLineremained so miredin grief that when he ate, he suffered terrible abdominal pain and had to lie on his stomach for relief.

Still, he took on a demanding schedule.Driven students tended to enter the more advanced honors program in either chemistry orbiology. DeLine, a physiology major, enrolled in both.

He paid for college through restaurant jobs and financial aid.

He went on to medical school, first in Champaign, then at the University of Illinois campus in Chicago. He lived in the citys Little Italysection on the nearwestside. There he met his future wife, Ann Doherty, who worked in a print shop.

DeLinegraduated from medical school on June 7, 1980. The next day, he and Ann married.

A week later, he started his residency in Wausau.

He would work a 24-hour shift, take 24 hours off, then head back for another 24 hours at the hospital. By the time Id stagger home for some rest, he says, I was sleep-deprived, hungry, with a headache.

The schedule bothered his wife. She missed him.In his next job, she would see even less of him.

Physician James DeLine checks on Dean Pease at Vernon Memorial Healthcare in Viroqua. Pease was admitted to the hospital for breathing difficulties.Mark Hoffman / Milwaukee Journal Sentinel

In LaFarge,DeLineworked harder than he had in his residency.

He was on call 24 hours a day, seven days a week. To make ends meet, both for his family and the clinic,DeLineworked five shifts a month in the emergency room at Vernon Memorial Hospital in Viroqua.

Some days he would work 9 a.m. to 5 p.m. at the clinic, then drive to the hospital and work 6 p.m. to 8 a.m. in the emergency room. He would return to the familys home just in time to shower and get to the clinic by 9.

There were times when he was tired, but it didnt slow him down, Marcia Bader, his now-retired office managersays. It was that deep-seated caring that kept him going.

After a morning of driving around visiting patients, physician James DeLine, right, updates the staff at his clinic.Mark Hoffman / Milwaukee Journal Sentinel

It was his wife,AnnDeLine, too.

The woman who had dreamed of being a mother did everything for the couples four children, all born within a five-year span. She washed cloth diapers and hung them out to dry. Shecooked, cleaned, took the children for walks, helped with school and play, and accepted with grace all the times when her husband was called away from holidays and birthday parties.

"The calendar of holidays does not apply," she says. "He helps people when they need him like the volunteer fireman races off when the alarm sounds; like the farmer plants and harvests when the ground and weather are ready."

"Life is lived by needs, not calendars and time slots."

This drawing is a gift from an Amish patient. James DeLine keeps it on his desk at home.Mark Hoffman / Milwaukee Journal Sentinel

Villagers embraced their doctor. Patients said they were accustomed to physicians who talked at them most of the time;DeLinelistened.

The clinic struggled financially in the early years. Not everybody paid their bills, Bader recalls. But the doctor wasnt going to send them to collection firms, and he wasnt going to stop caring for them.

The doctor and his wife became fixtures ofcommunitylife. They went to their childrens cross country meets and other school events. They attended the annual Kickapoo Valley Reserve Winter Festival.

But it was his presence in the homes of area residents that endeared him to them.

My father was diagnosed with colon cancer in 1994. The thing that always struck me was that Dr.DeLinestopped in to see my mom and dad one night after a basketball game, recalls Bonnie Howell-Sherman, editor and publisher of the weekly Epitaph-News in nearby Viola.

That was just unheard of. My mom is going through dementia now and out of all of the people shes met since shes been here, hes the one she remembers.

The villagers didnt just likeDeLine. They depended on him.

They worried about him, too.

Theres been two things about Dr.DeLinethat the whole community has been concerned about, Steinmetz said. One was, how do we keep him? The other was that hestayhealthy.

From time to time, rumors spread that the doctor was sick, even dying.

In 2007,DeLinehad noticed a problem. He would urinate, only to discover a short time later that he needed to go again.

It was prostate cancer.

Courtesy of the Viola Epitaph-News

Feeling, as he put it, reflective, maybe anxious too,DeLineapproached the Epitaph-News editor. He asked to write a series of columns for the newspaper describing his illness and treatment. He would counter the rumors with transparency. He called the column, From the Other Side.

I decided early on that I was comfortable sharing my experience with our community, he wrote in the first column. After all many of you have shared your concerns, fears and symptoms with me for nearly 25 years. Each of us knows that our turn must come for illness and eventually death.

He discussed his fears about surgery to remove his prostate Would I be able to jog again?He evensharedthe frustration of phoning to make a doctors appointment and going through endless computer prompts before reaching a live human voice.

His columns took readers through his surgery, recovery andreturn home.

The way the whole village shared the doctors illness and treatment, thats part of small-town life, explains Howell-Sherman, the newspaper editor.

Its been 12 years sinceDeLinessurgery. The cancer hasnot returned.

An Amish teen pulls farm machinery down a road in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

Of all the relationships the doctor built in LaFarge, the most challenging involved his Amish patients.

DeLine found his medical work was affected by a deeply held principle among the Amish, expressed in the German wordgelassenheit, which means yielding oneself to a higher authority. Among the Amish, the word encompasses a calmness and patience, as well as a belief that individualism must take a back seatto the good of the community and the will of God.

A sign warns motorists they may encounter horse-drawn vehicles on Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

While some Amish visit hospitals and accept modern medical techniques, others prefer natural methods and traditional treatments: herbs, vitamins, supplements and home remedies. In the LaFargearea, it is not unusual for an Amish family to turn to these methods beforedecidingto see DeLine.

Such was the case with Abie and Edna Yoder when their 8-year-old daughter, Barbara, first grew sick in spring 2015.

The girl had little appetite and suffered from a terrible stomachache and bloody diarrhea. Barbara weighed 38 pounds 19 pounds below average for an 8-year-old.

The Yoders took her to a so-called non-traditional doctor used by some of the Amish; these tend to be herbalists, specialists in natural medicine and others, all of whom lack medical degrees.He viewed her blood under a microscope and told the family she might have colon cancer.

The parents worried terribly about their daughters survival, but worried too about putting her in the hands of a traditional doctor. The scenario that haunted them had happened to a 3-year-old Amish boy with leukemia. The boy was given chemotherapy, they say, despite the excruciating pain andultimate failureof the treatment.

He begged to be released to go to Jesus, Edna Yoder recalls.

The Yoders approached a midwife, whosent her husband to speak with DeLine. The husband explained to the doctor the circumstances and the familys hesitation. Then the Yoders brought their daughter.

"Dr.DeLinemade it really clear that he would respect our wishes,Edna Yoder recalls.

Their daughter was admitted to American Family Childrens Hospital in Madison.DeLineconsulted with a pediatric cardiologist hed worked with at UW, Amy Peterson.

Dr.DeLinehad noticed that she had interesting looking bumps on her arms and on her legs, Peterson recalls. They were deposits of cholesterol. Dr.DeLineand I started thinking along very similar lines very quickly.

Genetic testing confirmed their hunch. The girl had extremely rare sitosterolemia, the same illness that would later be diagnosed in Perry Hochstetler.

Treatment lowered the girls sitosterol levels and helped her gain weight.

DeLineand Peterson have since foundamong the local Amisha dozen othercases the second largest cluster of the disease in the world.

An Amish farmer makes his way to work on a fence along Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

Almost 200 diseases are found in much higher proportions among Plain People. Scientists have developed a special Amish genetics test that screens the blood for more than 120 of them.

DeLine has seen patients with more than 30of the diseases on the testand has at least two patients with diseases neverdescribed in medicine.

Across the globe, there have beenonly20 to 30 cases of a disease called BRAT1; DeLine has seen six. Babies with the illness are born rigid and are prone to frequent seizures.

When the baby is born you cant straighten the baby, DeLine says. The eyes are jerking, face twitching. Some moms say they have felt things that suggest the babies have been seizing in the womb.

Continued here:
In a Wisconsin village, the doctor makes house calls and sees the rarest diseases on Earth - USA TODAY

A black Anguscow from Coaldale, Alta.sold for a record $140,000 earlier this month, setting a record for a southern Alberta auction house and the industry as a whole.

Listed as U2 Erelite 109z in the auction catalogue, the salewas part of U2 Ranch Ltd.'s complete herd dispersal, held atthe Perlich Bros.Auction Marketin Lethbridge, Alta.

It was standing room only at the auction,with buyers from Canada, the United States, Mexico and Europe all hoping to get the chance to own the prized animal.

"The sale started on Monday, Nov. 12," recalls Ken Perlich,one of the five family partners who own and operate the auction.

"We sold all through the red [Angus] andthe top seller there was $65,000. That was very impressive. Then the next day when the black [Angus] came in, theytopped-out the the two-day sale at at $140,000. That was truly amazing," Perlich said.

"I think the [seller's] family was surprised. We were surprised," Perlich said.

"I don't think there was anybody there that expected that kind of price range."

The auction catalogue included a detailed description of the $140,000 cow.

"109z is the most influential cow to walk our pastures," itreads.

"She is admired by all with her unique blend of massive power and exquisite femininity. She and her daughters are beyond compare for teat spacing and udder quality."

Every rancher is lookingfor different traits in a bred cowto improve the quality of theirherd. The Canadian Angus Association evaluates about 25 different traits.

That's why there's so much detail in the auction catalogue descriptions like those listed above.

"[109z]ranks in the top one percent for Weaning Weight, Yearling Weight and Total Maternal Value. Since 2015 she has had a perfect production record and turned into a very productive donor," read the catalogue.

$140,000 seems like a lot of money for one cowto many outside thecattle industry.

But insiders say that a price for bovine that's higher than a Buick shouldn't be a surprise.

"It's not uncommon for an Angus female to sell for $25,000up to $50,000," saidMylesImmerkar,Chief Executive Officer of the Canadian Angus Association.

ManyAngus bred cows will sell for $1,000 to $2,500 each.

When it comes to 109zspecifically, Immerkar says the value of that cow came down to her total maternal value.

If you're buying 109z, you're not buying her for meat. You're buying her for her production record and her pedigree.

When it comes to her breeding potential, 109zis a pregnant 8-year old cow. She's no spring chicken, but in those years she's proven herself.

All three of her sonshave sold to purebred herds.One bull, named Coalition, sold for $32,000. Anothercalled Temptation soldfor over $47,000.

While 109z is entering her twilight years, she's not done producing yet.

She's likely got another two to sevenbreeding years left in her.

Every year she'll give birth to a single calf and produce another 25 to 30 embryos, which can be transplanted into surrogate cows or sold for hundreds of dollars each.

If all goes well, 109z could produce over two dozen calves every yearfor the rest of her fertile life, which could mean hundreds of thousands of dollars.

So what does all this mean for the average Canadian beef eater?

Nothing directly. You're never going to find cuts from a $140,000dollar animal on sale at Safeway or Loblaws.

However, the meat from her lineagewilleventually end up on your kitchen table because 109z'sprogeny will pass her expensive genetics to the greater North American Angus herd.

Some of those genes will end up in the commercial sector, which provides meat for fine butchers, steak houses even on the menuat mass-market burger chains such asMcDonalds or Harvey's.

Genes matter because producers are always striving to breed better beef.

Sciencecan't help usgrow a better burger, so instead it helps the herd through selective breeding.

"Well, certainly [109z] isa recordwithin our association in Canada for a female selling," saidMylesImmerkar,Chief Executive Officer of the Canadian Angus Association.

"Earlier this year we did have another record where a bull sold for$200,000," he said.

At the Perlich Bros. Auction, the sale of 109z will stand as an important day in the market's 52-year history.

"It was a historic thing fornot just the cattle industry or the Angus industry but for our family business," saidMaureen Perlich-Kasko, whowas on the block during the historic sale.

"I don't think we'll ever be a part of anything so momentous. It's something we're very proud of, that it got to happen here and that we werea part of that day."

Written and produced by Tracy Fuller.

See more here:
A $140,000 lesson in the economics of bovine genetics and breeding - CBC.ca

Imagine this: you are a cash-strapped early-career health scientist, looking for your next big project. One day, you get your big break the chance to study half a million people, and the freedom to focus on virtually any topic you like, from DNA mutations to blue cheese intake.Best of all, this study will cost you virtually nothing.

Its easy to imagine that organisations like the UK Biobank make anything possible. Biobanks are huge repositories containing health, genetic, and demographic information from volunteers. Researchers look through the vast amount of data to find new health patterns and trends. There are few limits: you can analyse scans of volunteers hearts, infer their sexual behaviours, or study their reasoning skills.

Over 850 UK Biobank papers have been published, with new studies appearing in journals constantly. Studies so far have found results which could improve global health, such as a study showing that anyone, regardless of their genetic background, can reduce their risk of dementia with a change in lifestyle.

Criticisms of the project include that the research coming out of the UK Biobank will only benefit certain people, and even then, the usefulness of the health associations found are under question.

Compared to the 2011 UK census, Black, Indian, Pakistani and Chinese participants are all underrepresented in the Biobank by at least one third. David Curtis, at University College London, tested whether this under-representation of ethnic minority groups has any impact on schizophrenia genetics research.

Also read:How Do We Stop Genetic Medicine From Perpetuating Inequality?

He found that calculating the risk for schizophrenia when using Biobank data is only accurate for white European populations. This means that in the future, white people could be offered genetic tests for certain health conditions, while other people could be offered incorrect or no testing at all.

This is because of the complex evolutionary history of humans. While humans who migrated out of Africa and settled in Europe faced bottlenecks where their genetic diversity was reduced dramatically, Africans have maintained large and diverse populations, and so have a more unique genetic makeup.

Other researchers are investigating the Biobanks data as well. Na Cai, a statistical geneticist at the Wellcome Trust Sanger Institute and European Bioinformatics Institute, began thinking about howwhat gets putinto the Biobank affects what conclusions come out of it, similar to Curtis study on schizophrenia.

In herstudy, currently a pre-print posted on bioRxiv, Cai and colleagues decided to focus on major depressive disorder. Depression is one of the most common mental health disorders, and has been a major topic of investigation in genetic association studies.

Because of this, Cai was concerned that researchers might not be investigating depression specifically, but instead looking at the genetics of poor mental health in general.

Cai defined depression in five different ways, using both strict and loose criteria. For example, some people might tell their doctor that they feel depressed, but not meet the specific psychiatric definition of major depressive disorder. She looked to see if the same genetic variants were associated with each different definition of depression.

The results were surprising. She found less of a genetic contribution towards all the looser definitions of depression compared to the full assessment used by psychiatrists.

Also read:DNA Sequencing Is Inadvertently Exacerbating Social Biases and Inequalities

First, it shows that researchers do not have the power in their studies that they assume they do. Previously, it was assumed that it didnt matter too much if researchers defined depression loosely. It could be that these broader definitions are just milder cases of depression, or show less of a genetic association because more people in these groups are misdiagnosed, which dilutes the signal.

However, when the researchers controlled for these factors, nothing changed. The strict psychiatric definition of depression was still genetically distinct from these other versions, meaning that it had more genes associated with it, and there wasnt much overlap in the genes which all the definitions did share.

A technician works at a genetic testing laboratory in China. Photo: Reuters

This throws into question whether papers which have found links between depression and genes are coming to the right conclusions. Are they finding a genetic basis for major depressive disorder, or are they showing something else like the less specific genetic basis for poor mental health in general?

Both Cai and Curtis conclude that we need to rethink how we collect biobank data. Both issues are the result of design flaws present since the UK Biobanks inception. Cai does not necessarily think all participants need to be assessed by a psychiatrist. She suggests that we use new technologies, such as computer assessments and smartphone behavioral tracking, to diagnose people with clinical depression.

But tackling the lack of diversity in biobank data requires those in charge to recognise that the current design excludes marginalised and hard-to-reach groups.

John Savill, the Chief Executive of the UK Medical Research Council, the organisation which provided major funding for the Biobank, was reported by the Guardian to say in response to Curtis research that I do not think it is helpful to cast concerns over experimental design as equalities issues.

Also read:Widely-Available Genetic Risk Tests Arent Always Useful and Could Even be Harmful

However, David Heel, who is the Chief Investigator of the East London Genes & Health Project, which aims to improve the health of South Asian people in the UK, thinks that the UK Biobanks recruitment tactic of mailing a letter meantBritish-Bangladeshi and British-Pakistani people missed out. When reached via email, Heelsaid that, in regards to volunteers in the project, A much better response rate comes from a face to face discussion, or a trusted setting such as talking at a doctors office.

Curtis also thinks more can be done, but is not optimistic that we can save the UK Biobank from this bias. He saidIt may be too late to try to make the UK Biobank more representative. We may need to look to other initiativesand to look to samples recruited in other countries.

The article was originally published onMassive Science.You can read ithere.

Read the rest here:
Genetic Databases Are Leaving Marginalised People out of Their Data - The Wire

Genetics and weather are coming against Newfoundlanders and Labradorians who have the highest incidence of arthritis in Canada.

One in four Newfoundlanders and Labradorians suffer from one form of arthritis or another.

That from the Arthritis Societys Jennifer Henning. She says arthritis is an inflammation of the joint, but there are some 100 different types of the disease which is split into two major categories, inflammatory and degenerative.

Rheumatoid arthritis is an autoimmune attack on the joints by the bodys own immune system. It can happen at any time, and affect the entire body.

Osteoarthritis is the most common form and comes as the result of wear and tear, injury or the general aging process. It involves a degeneration of the cartilage between the bones of the joint.

Both types of arthritis result in significant pain and loss of mobility.

Henning says unfortunately, weather doesnt help.

She says in laymans terms, the body is tighter because its cold, and when its wet the tissues swell, causing a greater amount of pain and inflammation.

She says genetics also play a strong role especially in the inflammatory type of arthritis.

Rheumatoid arthritis is more common in women and is often triggered by a traumatic event like childbirth, injury or illness.

Here is the original post:
Genetics and Weather in NL Producing Highest Incidence of Arthritis in Canada - VOCM