Category Archives: Genetics

Genetics

EMA Validates Seattle Genetics’ Marketing Authorization Application for Tucatinib for Patients with Locally Advanced or Metastatic HER2-Positive…

Today, we achieved a significant milestone towards our goal of making tucatinib available to patients with locally advanced unresectable or metastatic HER2-positive breast cancer, including those with brain metastases, around the world, said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. We look forward to working with the EMA throughout the review process. If approved, tucatinib has the potential to be a clinically meaningful advance for patients in this disease setting.

The MAA is based on data from the pivotal HER2CLIMB clinical trial, which compared tucatinib in combination with trastuzumab and capecitabine to trastuzumab and capecitabine alone in patients with locally advanced unresectable or metastatic HER2-positive breast cancer. Patients had previously received trastuzumab, pertuzumab and T-DM1 (ado-trastuzumab emtansine). Patients had received a median of four prior lines of therapy overall and three in the metastatic setting. Forty-seven percent of the patients enrolled in the trial had brain metastases at the time of enrollment. Results of the pivotal HER2CLIMB trial were presented during an oral presentation at the 2019 San Antonio Breast Cancer Symposium (SABCS) and simultaneously published in the New England Journal of Medicine (NEJM).

The New Drug Application (NDA) for tucatinib was submitted to the U.S. Food and Drug Administration (FDA) on December 23, 2019 under the Real-Time Oncology Review Pilot Program. The review of the tucatinib NDA is also being conducted under Project Orbis, an initiative of the FDA Oncology Center of Excellence. Project Orbis provides a framework for concurrent submission and review of oncology drugs among participating international partners. Tucatinib was recently granted Breakthrough Therapy designation by the FDA in combination with trastuzumab and capecitabine, for the treatment of patients with locally advanced unresectable or metastatic HER2-positive breast cancer, including patients with brain metastases, who have been treated with trastuzumab, pertuzumab, and T-DM1. This designation was based on data from the HER2CLIMB trial.

About HER2CLIMB

HER2CLIMB is a multinational randomized (2:1), double-blind, placebo-controlled, active comparator, pivotal clinical trial comparing tucatinib in combination with trastuzumab and capecitabine compared with trastuzumab and capecitabine alone in patients with locally advanced unresectable or metastatic HER2-positive breast cancer who were previously treated with trastuzumab, pertuzumab and T-DM1. The primary endpoint of the trial was progression-free survival (PFS) per Response Evaluation Criteria in Solid Tumors (RECIST) v1.1 as determined by blinded independent central review (BICR) in the first 480 patients enrolled in the trial. HER2CLIMB enrolled a total of 612 patients to support the analyses of key secondary endpoints, including overall survival, PFS per BICR in patients with brain metastases at baseline and confirmed objective response rate (ORR). Safety data were evaluated throughout the study.

About HER2-Positive Breast Cancer

Patients with HER2-positive breast cancer have tumors with high levels of a protein called human epidermal growth factor receptor 2 (HER2), which promotes the aggressive spread of cancer cells. An estimated 271,270 new cases of invasive breast cancer will be diagnosed in the U.S. in 2019.1 Between 15 and 20 percent of breast cancer cases worldwide are HER2-positive.2 Historically, HER2-positive breast cancer tends to be more aggressive and more likely to recur than HER2-negative breast cancer.2, 3, 4 In patients with metastatic breast cancer, the most common site of first metastasis is in bone, followed by lung, brain, and liver.5, 6 Up to 50 percent of metastatic HER2-positive breast cancer patients develop brain metastases over time.2, 7 Despite recent treatment advances, there is still a significant need for new therapies that can impact metastatic disease, especially brain metastases. There are currently no approved therapies demonstrating progression-free survival or overall survival benefit for the treatment of patients with HER2-positive metastatic breast cancer after progression on T-DM1.8, 9, 10

About Tucatinib

Tucatinib is an investigational, orally bioavailable, potent tyrosine kinase inhibitor that is highly selective for HER2 without significant inhibition of EGFR. Inhibition of EGFR has been associated with significant toxicities, including skin rash and diarrhea. Tucatinib has shown activity as a single agent and in combination with both chemotherapy and other HER2 targeted agents such as trastuzumab.1,2 Studies of tucatinib in these combinations have shown activity both systemically and in brain metastases. HER2 is a growth factor receptor that is overexpressed in multiple cancers, including breast, colorectal and gastric cancers. HER2 mediates cell growth, differentiation and survival. Tucatinib has been granted orphan drug designation by the FDA for the treatment of breast cancer patients with brain metastases.

In addition to HER2CLIMB, tucatinib is being evaluated in a randomized, double-blind, placebo-controlled, multi-center phase 3 trial of tucatinib in combination with T-DM1 compared to T-DM1 alone, in patients with unresectable locally advanced or metastatic HER2-positive breast cancer, including those with brain metastases, who have had prior treatment with a taxane and trastuzumab. The primary endpoint is PFS per RECIST criteria. Secondary endpoints include overall survival, objective response rate and duration of response. This global trial is expected to enroll approximately 460 patients. More information about the phase 3 trial, including enrolling centers, is available at http://www.clinicaltrials.gov.

Tucatinib is also being evaluated in a multi-center, open-label, single-arm phase 2 clinical trial known as MOUNTAINEER, which is evaluating tucatinib in combination with trastuzumab in patients with HER2-positive, RAS wildtype metastatic or unresectable colorectal cancer. The primary endpoint of the trial is ORR by RECIST criteria. PFS, duration of response, overall survival and safety and tolerability of the combination regimen are secondary objectives. Results for 26 patients were evaluated in an analysis and presented at the European Society for Medical Oncology (ESMO) 2019 Congress. Enrollment is ongoing. More information about the MOUNTAINEER trial, including enrolling centers, is available at http://www.clinicaltrials.gov.

About Seattle Genetics

Seattle Genetics, Inc. is a global biotechnology company that discovers, develops and commercializes transformative medicines targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) and PADCEVTM (enfortumab vedotin-ejfv) use the companys industry-leading antibody-drug conjugate (ADC) technology. ADCETRIS is approved in certain CD30-expressing lymphomas, and PADCEV is approved in certain metastatic urothelial cancers. In addition, investigational agent tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer, and in clinical development for metastatic colorectal cancer. The company is headquartered in Bothell, Washington, and has offices in California, Switzerland and the European Union. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

Forward Looking Statements

Certain of the statements made in this press release are forward looking, such as those, among others, relating to the therapeutic potential of tucatinib, including its possible efficacy, safety and therapeutic uses; anticipated development activities including ongoing and future clinical trials; and the potential to obtain regulatory approvals of tucatinib in the United States, the European Union and in countries participating in Project Orbis. 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 difficulty and uncertainty of pharmaceutical product development, the risk of adverse events or safety signals, the possibility of disappointing results in ongoing or future clinical trials despite earlier promising clinical results, the possibility that data from the HER2CLIMB trial may not be sufficient to support approval of tucatinib in the United States, the European Union or in other countries participating in Project Orbis or that other adverse regulatory actions could occur. More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption Risk Factors included in the companys 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.

References:

1. American Cancer Society, Cancer Facts and Figures 2018-2019.

2. Loibl S, Gianni L (2017). HER2-positive breast cancer. The Lancet 389(10087): 2415-29.

3. Slamon D, Clark G, Wong S, et al. (1987). Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science 235(4785): 177-82.

4. American Cancer Society (ACS) (2018). Breast cancer HER2 status. Accessed: December 10, 2018.

5. Kennecke H, Yerushalmi R, Woods R, et al. (2010). Metastatic Behavior of Breast Cancer Subtypes. Journal of Clinical Oncology 28(20): 3271-7.

6. Berman AT, Thukral AD, Hwang W-T, et al. (2013). Incidence and Patterns of Distant Metastases for Patients With Early-Stage Breast Cancer After Breast Conservation Treatment. Clinical Breast Cancer 13(2): 88-94.

7. Duchnowska R, Loibl S, Jassem J (2018). Tyrosine kinase inhibitors for brain metastases in HER2-positive breast cancer. Cancer Treatment Reviews 67: 71-7.

8. Verma S, Miles D, Gianni L, et al. (2012). Trastuzumab Emtansine for HER2-Positive Advanced Breast Cancer. New England Journal of Medicine 367(19): 1783-91.

9. Geyer CE, Forster J, Lindquist D, et al. (2006). Lapatinib plus Capecitabine for HER2-Positive Advanced Breast Cancer. New England Journal of Medicine 355(26): 2733-43.

10. Blackwell KL, Burstein HJ, Storniolo AM, et al. (2012). Overall Survival Benefit With Lapatinib in Combination With Trastuzumab for Patients With Human Epidermal Growth Factor Receptor 2Positive Metastatic Breast Cancer: Final Results From the EGF104900 Study. Journal of Clinical Oncology 30(21): 2585-92.

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EMA Validates Seattle Genetics' Marketing Authorization Application for Tucatinib for Patients with Locally Advanced or Metastatic HER2-Positive...

Genetics

OPINION: Jewish or not, this week could save you a lot of heartache – Atlanta Journal Constitution

Monday marks the beginning of the first Jewish Genetic Screening Awareness Week.

And, this being February, there are at least a dozen other awareness efforts just as there were in January and will be come March and the nine months that follow. February is, of course, the month in which we raise awareness about HIV/AIDS, Teen Dating Violence and screen for eating disorders, among a long list of other things.

Now comes Feb. 3-7, the week JScreen hopes will get us to focus on genetic screening and more specifically the need for people here and across the country to take charge of their health and any children they hope to have in the future. To kick things off, the Georgia Legislature is expected to pass a proclamation to highlight the effort midweek.

JScreen, you might recall, is a national nonprofit public health initiative dedicated to preventing Jewish genetic diseases. But the goal is to prevent diseases common in other ethnic groups as well, said Karen Arnovitz Grinzaid, an assistant professor of human genetics at Emory University and JScreens executive director.

The nonprofit, based at Emory University, began in 2010 as a pilot project in Atlanta and has since evolved into a national initiative offering affordable, accessible and comprehensive genetic screening.

RELATED |DeKalb couples personal tragedy becomes crusade for genetic testing

Since its national launch in 2013, Grinzaid said, JScreen has helped thousands, testing people from every state across the country and offering services remotely.

That means once you register for a genetic screen kit atjscreen.org, JScreen will mail the kit to your home. All you have to do is spit in a tube and mail the saliva sample to the lab. A genetic counselor will then report the results either by phone or secure video conference.

For people with health insurance, the cost, regardless of coverage, is $149 and includes the testing and follow-up genetic counseling. The self-pay price is $349.

While the focus is on the Jewish community, screening is encouraged for anyone planning to have a family, Grinzaid said.

JScreen screens for over 200 diseases. For most of these diseases, both parents must carry the same recessive gene in order for their children to be at risk.

So why an awareness week?

Were always trying to raise awareness, but by dedicating a week and calling this out, we can save lives, Grinzaid said. So many people dont hear about genetic screening until they show up pregnant in their doctors office. At that point, if they are a high-risk couple, they dont have as many options to help them plan ahead for a healthy baby. Genetic screening is something people should ideally do before they get pregnant.

Unlike other awareness campaigns, JScreens promises to be very purposeful, focusing each day on a specific theme in hopes that more people will take advantage of screening.

RELATED |A mother and her daughters bare all to help prevent breast cancer

On Monday, organizers will be laser focused on Tay-Sachs, a rare, inherited disorder that destroys nerve cells in the brain and spinal cord.

On Tuesday, theyll turn their focus to college students. While having a baby may be the farthest thing from any students mind, discounted screenings will be provided at colleges and universities across the country so students will have access to important information they need for future family planning.

BRCA awareness will follow on Wednesday. Ashkenazi Jews are at 10 times greater risk to have a mutation in a BRCA gene, increasing their risk for breast, ovarian, prostate and pancreatic cancer.

Then on Thursday, Jews with Sephardi and Mizrahi ancestry, such as Persians, Syrians and Bukharians, are encouraged to be screened.

Finally on Friday, interfaith couples will be the focus. While there are a number of diseases that are commonly found in people with Jewish background, Grinzaid said these diseases also occur in the general population, making screening important for interfaith couples as well.

Thats not all.

Beyond carrier screening, Grinzaid said that JScreen is running the PEACH BRCA study for people with Jewish background who are at risk for carrying a BRCA mutation based on their ancestry. Knowing ones BRCA status can be life-saving.

Were piloting BRCA testing in metro Atlanta, she said. Participation in the study is free, but you must be at least 25 or older, male or female, and have at least one Jewish grandparent and no personal or close family history of related cancers.

Of the 500 available slots, only 100 are left. People interested in learning more about the PEACH BRCA study can log on here:jscreen.org/brca.

Once the study is complete, JScreen will launch a cancer genetic testing program nationally.

For information about any of these programs or to register for a screening kit,log onto jscreen.org.

Sure, the focus for now is on this week, but you can get screened any time and you should. Genetic testing is just that important.

Find Gracie on Facebook (www.facebook.com/graciestaplesajc/) and Twitter (@GStaples_AJC) or email her at gstaples@ajc.com.

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OPINION: Jewish or not, this week could save you a lot of heartache - Atlanta Journal Constitution

Genetics

Unlocking the Secrets of Organ and Limb Regeneration From a Tiny Salamanders Genetics – SciTechDaily

Since humans possess similar genes to the axolotl, the researchers say, scientists may one day discover how to activate them to help speed wound repair or regenerate tissue.

The type of salamander called axolotl, with its frilly gills and widely spaced eyes, looks like an alien and has other-worldly powers of regeneration. Lose a limb, part of the heart or even a large portion of its brain? No problem: They grow back.

It regenerates almost anything after almost any injury that doesnt kill it, said Parker Flowers, postdoctoral associate in the lab of Craig Crews, the John C. Malone Professor of Molecular, Cellular, and Developmental Biology and professor of chemistry and pharmacology.

If scientists can find the genetic basis for the axolotls ability to regenerate, they might be able to find ways to restore damaged tissue in humans. But they have been thwarted in the attempt by another peculiarity of the axolotl it has the largest genome of any animal yet sequenced, 10 times larger than that of humans.

It regenerates almost anything after almost any injury that doesnt kill it. Parker Flowers

Now Flowers and colleagues have found an ingenious way to circumvent the animals complex genome to identify at least two genes involved in regeneration, they report today (January 28, 2020) in the journal eLife.

The advent of new sequencing technologies and gene-editing technology has allowed researchers to craft a list of hundreds of gene candidates that could responsible for regeneration of limbs. However, the huge size of the axolotl genome populated by vast areas of repeated stretches of DNA has made it difficult to investigate the function of those genes.

Lucas Sanor, a former graduate student in the lab, and fellow co-first author Flowers used gene editing techniques in a multi-step process to essentially create markers that could track 25 genes suspected of being involved in limb regeneration. The method allowed them to identify two genes in the blastema a mass of dividing cells that form at the site of a severed limb that were also responsible for partial regeneration of the axolotl tail.

Flowers stressed that many more such genes probably exist. Since humans possess similar genes, the researchers say, scientists may one day discover how to activate them to help speed wound repair or regenerate tissue.

Reference: Multiplex CRISPR/Cas screen in regenerating haploid limbs of chimeric Axolotls by Lucas D Sanor, Grant Parker Flowers and Craig M Crews, 28 January 2020, eLife.DOI: 10.7554/eLife.48511

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Unlocking the Secrets of Organ and Limb Regeneration From a Tiny Salamanders Genetics - SciTechDaily

Genetics

South Africa: wild animals at risk of ‘genetic pollution’ – The Guardian

Lions, rhinos and cheetahs are among the wild species at risk of irreversible genetic pollution from breeding experiments, scientists have warned.

South African game farmers have increasingly been breeding novel trophy animals, including some freakishly-coloured varieties such as the black impala, golden wildebeest or pure-white springboks.

Some hunters pay more to bag unusual trophies, but now the South African government is under fire for permitting further gene manipulation ventures that scientists say could have a damaging effect on the continents wildlife.

Writing in the latest issue of the South African Journal of Science, a group of 10 senior wildlife scientists and researchers have criticised the government for quietly amending the countrys Animal Improvement Act last year to allow for the domestication and genetic improvement of at least 24 indigenous wildlife species including rare and endangered animals such as rhino, cheetah, lion, buffalo and several antelope species.

The researchers warn that: A logical endpoint of this legislation is that we will have two populations of each species: one wild and one domesticated domesticated varieties of wildlife will represent a novel, genetic pollution threat to South Africas indigenous wildlife that will be virtually impossible to prevent or reverse.

Lead author Prof Michael Somers, a senior researcher at the Mammal Research Institute at the University of Pretoria, says the government should scrap the controversial law amendment which lumps together rare and endangered species such as rhinos with rabbits and domesticated dog breeds.

Somers and his colleagues say the act typically provides for domesticated species to be bred and genetically improved to obtain superior domesticated animals with enhanced production and performance.

These animals can also be used for genetic manipulation, embryo harvesting, in-vitro fertilisation and embryo transfers, say the scientists.

They argue that the law will not improve the genetics of the affected wildlife species but rather will pose ecological and economic risks as it will be expensive and almost impossible to maintain a clear distinction between wild and domesticated species.

Somers and his colleagues say the government did not appear to have consulted either scientists, government wildlife agencies or the general public about the controversial move.

Last year, in response to concerns that the legal amendment would remove the listed species from the ambit of conservation legislation, the governments environment department issued a statement to emphasise that that game breeders would still have to comply with the National Environmental Management Biodiversity Act and regulations concerning threatened or protected species.

But Somers and his co-authors remain concerned, saying that in the province of KwaZulu-Natal, where there is close cooperation between game breeders and the provincial conservation organisation, the authorities still had difficulty keeping track of what happens on game farms and in enforcing legislation.

This new law will add to this difficulty, and will likely be less controlled in some other provinces, they said, adding that the genetic consequences of intensive or semi-intensive breeding of wildlife species were negative and considerable.

Intensive breeding through artificial (non random) selection of individuals for commercially valuable traits (eg horn size/shape, coat colour) represents humans taking over this natural process. Such artificial selection by humans is even more powerful than natural selection in creating distinct phenotypes within very short time frames.

Michael Bruford, a professor of biodiversity at the University of Cardiff and co-chair of the Conservation Genetics Specialist Group of the IUCN Species Survival Commission, added his support to the concerns raised. The Convention on Biological Diversitys 2020 targets clearly state that signatory countries should minimise genetic erosion (loss of genetic diversity) in domestic, socio-economically and culturally valuable species, he said.

However you regard these species and they cannot reasonably be classified as domestic animals South Africas proposal will very likely lead to genetic erosion, in contravention of the CBD target, he added. This proposal also comes at a time of rapid environmental deterioration, when we need to be increasing the resilience of our species by ensuring they retain as much genetic diversity as possible.

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South Africa: wild animals at risk of 'genetic pollution' - The Guardian

Genetics

Mota Ventures gets access to Canada"s largest live genetic cannabis library via deal with Phenome One – Proactive Investors USA & Canada

Phenome One is a private genetic and seed preservation company with over 350 cultivars and access to around 1,700 unique genetics

Corp () (OTCMKTS:PEMTF) announced a new agreement Tuesday that gives the firm access to Canadas largest live genetic cannabis library.

The Vancouver-based company signed a licensing and royalty agreement with Phenome One Corporation, a private genetic and seed preservation company with over 350 cultivars and access to around 1,700 unique genetics in its seed bank.

Under the terms of the deal, Mota has the right to propagate, cultivate, harvest and process at least 10 selected cultivars from Phenomes genetic library and to sell anything it produces from the selections.

The agreement also grants unlimited access to the intellectual property and catalogue of Norstar Nutrients, a wellness company that offers blends of macro and micro-nutrients formulated for essential oils.

Mota may also tap into Phenomes farming intellectual property, the company said in a statement. Phenomes unique CBD strains have profiles ranging from 1:1 up to 150:1 CBD.

"We are excited to have finalized a licensing agreement with Phenome, as it gives us access to a significant genetic cannabis library, with some unique CBD strains having profiles of up to 150:1, Motas CEO Joel Shacker said in a statement.

The transaction sees Mota issuing 1 million shares to Phenome once the firm completes seed registration in Colombia. It will also make a monthly royalty payment to Phenome of 5% of gross sales of any product produced from Phenomes genetics.

Mota will also issue 1 million shares to Phenome if it is acquired by a third party or there is a material breach in the licensing agreement, it said in a statement.

The cannabis company also said it has terminated the previously announced acquisition of Tropical Verde Coast Ltd with no liabilities.

Contact Angela at [emailprotected]

Follow her on Twitter @AHarmantas

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Mota Ventures gets access to Canada"s largest live genetic cannabis library via deal with Phenome One - Proactive Investors USA & Canada

Genetics

Eisai and PGDx jointly start R&D of cancer genetics panel test – BSA bureau

Eisai and Personal Genome Diagnostics (PGDx) will use liquid biopsy to accelerate Next-Generation drug discovery and development

Japanese firm Eisai Co., Ltd., has entered into a joint research and development agreement with Personal Genome Diagnostics Inc., Maryland, for cancer genetics panel test, and it has initiated the research.

In this joint research and development, Eisai and PGDx will create a kitted cancer gene panel test that enables comprehensive analysis of mutation in more than 500 cancer gene using liquid biopsy with blood samples. Additionally, the kit will be used in our drug discovery and development.

In Eisai's medium term business plan EWAY2025, Eisai is pursuing creating innovation focused in neurology area and oncology area aimed at realizing prediction / prevention and cure. Aiming to acquire next-generation sequencing technology for realizing personalized cancer medicine, Eisai has concluded a joint research and development agreement with PGDx, a US bio-venture with liquid biopsy genomic expertise.

By analyzing the circulating tumor DNA (ctDNA) in the blood using its own created gene panel testing technology, Eisai will investigate the Cancer Evolution, which is a series of process such as developments of cancer cells, recurrence / metastasis and the appearance of acquired drug resistance. Eisai will also identify genetic abnormalities of drug resistance to existing anti-cancer agents that will be the targets of a new drug discovery and use a kitted cancer gene panel test for clinical trials to develop new anticancer drugs. Eisai will continue to work on cancer genome medicine for realizing early detection of cancer, and providing personalized cancer medicine and cures for cancer patients in the future.

In addition to accelerating cancer genome medicine based on the latest liquid biopsy technology, Eisai aims to build an oncology ecosystem, in which a longitudinal trajectory of cancer patients will be monitored, to lead to the creation of cures for cancer patients as well as diagnosis for prediction and prevention of cancer. Eisai will make continuous efforts to meet diversified needs of, and increasing the benefits provided to, patients with cancer, their families, and healthcare professionals.

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Eisai and PGDx jointly start R&D of cancer genetics panel test - BSA bureau

Genetics

Massive effort to document the genetics of European forests bears fruit – Science Magazine

A power drill helps a researcher extract a core from a tree included in the GenTree project.

By Elizabeth PennisiJan. 27, 2020 , 3:15 PM

Faced with deforestation, climate change, invasive pests, and new diseases, many trees are in trouble. Foresters and conservationists are scrambling to save them, but cant protect every stand of woods. And prioritizing which placesand even which individual treeswarrant preservation has been a challenge. For example, You want a lot of genetic diversity in a conservation area. The higher the diversity, the more the chances that the population will survive, says F. A. (Phil) Aravanopoulos, a forest geneticist at Aristotle University of Thessaloniki. But robust data on the genetic diversity of trees can be scarce.

Now, a 4-year, $7.7 million effort to document the genetic diversity of forests in Europe is helping fill that gap. In a project dubbed GenTree, researchers from 14 countries measured, cored, and took DNA samples from 12 important tree species across Europe. No other continents forests have been documented so broadly and so comprehensively, says Nathalie Israel, a forest geneticist and forester with Natural Resources Canada. The sampling is amazing.

The results, reported at a forest genetics conference this week in Avignon, France, could help conservationists, tree breeders, forest managers, and researchers trying to understand how forests will cope with climate change. The data trove will provide a solid base for a better understanding of the links between genetic diversity and increased adaptation and resilience of the European forests, says forest researcher Hernn Serrano-Len, who worked at the recently disbanded European Forest Institute Planted Forests Facility.

More than 42% of the European Unions land area is covered by forests and other wooded land. These areas provide wood, food, energy, and ecosystem services such as clean water and flood control, and are enjoyed by hunters, hikers, and birdwatchers. In a bid to improve forest management, in 2016 the European Unions Horizons 2020 program funded GenTree to document tree species of both economic and ecological importance. It is the first project to consider genetic diversity not only from the breeding side, but also from the conservation side, says project leader Bruno Fady, a forest geneticist at the French National Institute for Agricultural Research.

To assemble the data set, research teams looked at about 20 trees from each of the dozen tree species, which included maritime pine, Norway spruce, sessile oak, stone pine, and European beech. They took samples from 10 to 25 populations of each species, working to include individuals from across the trees range, and that survived in places with extreme environmental conditions, such as drought or late frosts. The researchers then sequenced active genes, as well as other DNA from across the genomes, to determine the range of genetic variation both within and between tree populations. The researchers also measured key traits such as annual growth, leaf surface area, seed germination rate, and resistance to disease, and analyzed the degree to which these traits were linked to specific gene variants.

A core that GenTree researchers extracted from a black poplar inthe Drmeregion ofFrancein 2017

Such data helped reveal how trees coped with their local environments; for example, identifying populations and individuals that were better adapted to drought or frost than others. A key revelation was just how much genetic variation exists in some populations. Theres a huge within-species diversity, which is rarely acknowledged in forestry and rarely used in management, Fady says. A single population of beech, for example, might contain high- and low-elevation trees that are as different genetically as trees living in forests that are hundreds of kilometers apart.

Such genetic insights can be very helpful in planning conservation programs, Israel says. I wish we could have a North American project like that, she says.

The data might also come in handy for researchers thinking about how to help forests survive climate change. One possible strategy is to transplant trees from warmer climates into cooler areas undergoing warming, a process called assisted migration. In some cases, the genetic data could be key in deciding which seeds to plant in new areas, or how to breed hardier trees. But in others, the genetic data might indicate dont bother with assisted migration, Fady explains. You have enough seeds [with enough variation], and natural selection will play the role of the breeder, so the trees will be able to adapt to warming on their own.

The work also drives home the need for tree breeders to focus more on genetics, says David Neale, a forest geneticist at the University of California, Davis. They need to understand the genetic composition of the individual [tree], he says. Its not enough to say [the tree] came from this place in the world. Thats the level the foresters are working with right now.

Other results at the meeting suggest better genetic data can benefit commercial foresters. In onemodeling study, researchers found that pine forests grown from relatively expensive improved seed developed by breeders are likely to be worth the added cost, because the bred trees mature quickly and produce more wood. Its a negligible extra seedling cost, says Serrano-Leon, who predicts that tree breeding programs all over Europe will benefit from the [GenTree] data. It is an extraordinary resource.

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Massive effort to document the genetics of European forests bears fruit - Science Magazine

Genetics

Genetics research at BYU may not be what you think – Universe.byu.edu

See also BYU researchers contribute toward finding a cure for Alzheimers disease

Genetics and Alzheimers researchers at BYU have made far-reaching contributions to their fields through two valuable campus resources: the DNA Sequencing Center (DNASC) and the Office of Research Computing. These resources generate data that is used by BYU faculty researchers, students and collaborators from other universities in their research.

Although many people approach the DNASC requesting sequencing for family history and genealogy related samples, these services are currently not offered. The DNASC, along with the Office of Research Computing, is centered on the primary focus of providing support for academic research.

DNA Sequencing Center

Inside the Life Sciences Building (LSB) on the BYU campus is a collection of small rooms that make up what is known as the BYU DNASC. This center is vital to researchers and houses DNA sequencing machines that are dedicated to efficiently and economically processing DNA samples.

Edward Wilcox, managing director of the sequencing center, has worked as a full-time research faculty member since 2005. He manages everything from the DNA sequencing machines to student employees who help prepare samples.

The process of preparing DNA samples involves isolating them, shearing them down to the right size, making libraries and cleaning them.

A library is just pieces of DNA with adapters on the ends, Wilcox said. The adapters are what allows us to sequence in since its a known sequence. From there, we can sequence into the unknown.

After the libraries are prepared, they are ready to be placed in the sequencing machines. The DNASC currently has three machines the Illumina, PacBio I and PacBio II. The 2015 Illumina will retire at some point and be replaced by a new machine called the NovaSeq. This machine will cost about a million dollars but is essential for the work and is expected to generate more data at less of a cost.

Handling all this expensive equipment requires great care. Wilcox admits he may come off as overbearing to student employees at times, but thats because everything needs to be done just right.

Thats $20,000 of reagent (a substance or compound added to a system to cause a chemical reaction) were putting on the machines right now. If we dont do things right, and the run fails, were out $20,000, Wilcox said. Its a little concerning, and we cannot afford to lose a run.

BYU junior Miranda Johnson has been working at the DNASC since September 2018. The neuroscience major said the job is stressful and requires a lot of multitasking.

But its less stressful than customer service in my opinion, Johnson said.

The DNASC receives a variety of different samples from all across the United States and the world, including recent samples from Russia, the Czech Republic and Italy. The samples can come from any living organism, including fish, plants, insects, sunflowers and blood.

Its pretty random what we get, Johnson said. Thats the fun part of the DNA Sequencing lab! Its familiar enough you dont get lost, but its always a little bit different.

BYU biology professor and Alzheimers researcher John Kauwe said the DNASC is an important resource that nearly everyone doing genetics research at BYU relies on for some aspects of their data generation.

Its great to have that resource right down the hall, where we know we can get high quality data, Kauwe said.

The Office of Research Computing

Another vital resource for research at BYU is the Office of Research Computing. With over a thousand computer servers and 24,000 processor cores, this valuable resource is utilized by hundreds of users, including BYU faculty researchers, students and a few dozen collaborators from other universities.

Nothing I do would be possible without it, said Perry Ridge, an Alzheimers researcher and biology professor at BYU. Every analysis that we run for every project is on the supercomputer.

Director of research computing Ryan Cox oversees the entire works, running everything from the servers to the employees. His team does everything from maintaining the hardware and software that researchers use and purchasing new equipment to staying on top of industry trends and helping people with code optimizations.

The servers that make up the supercomputer are located in three separate rooms across BYU campus, the biggest being in the James E. Talmage building. Several departments on campus rely on this resource especially the engineering, physical, mathematical and life sciences colleges.

The DNASC in the life sciences college sends terabyte-sized files to the servers on a weekly basis. Wilcox, the managing director of the sequencing center, said not having enough computer space has been one of their biggest challenges.

Were dealing with some big files here, Wilcox said. The computer center at BYU limits you to 15 terabytes; thats a weeks worth of data and its hard to distribute everyones data in that time.

Realizing this was an issue, Cox said the Office of Research Computing recently started renting out storage space to accommodate those who need the extra space.

Some people use 80 to a 100 times more storage than the allocation we give people, Cox said.

Generally the research computing sources are freely available to everyone, but the limited storage space makes it difficult to satisfy everyones needs. But according to Ridge, Cox and his team are always finding ways to accommodate those in the research community.

The Office of Research Computing is service-oriented and they go out of their way to help faculty and students in doing research, Ridge said. They really make a lot of what we do here at BYU possible, and make it possible for BYU to stand out in positive ways.

Kauwe agrees and added that these campus resources help him and his colleagues make a positive impact in their fields of research.

Its been wonderful coming here and having a DNA sequencing center and a high quality research computing center to analyze the scale of data were generating, Kauwe said. Its allowed us to be competitive on a national scale and to make research progress that is meaningful in our field. They are incredible resources that are key to genetics research at BYU.

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Genetics research at BYU may not be what you think - Universe.byu.edu

Genetics

Advancement in genetics, husbandry and more help animal ag – AberdeenNews.com

JAMESTOWN, N.D. Travis Bell knew exactly how many pounds of feed each pen of cattle in his 1,500 head feedlot in Fordville, N.D., got on Monday, Jan. 20. That wouldnt seem like much of a feat unless you consider that Bell was more than two hours away, in Jamestown at the Precision Ag Summit.

Bell could see exactly how much of each component of his calves ration his employees had put down, using the Performance Beef app on his phone. The app has been a game changer for Bells Edgewood Ranch. Unlike in the old days, when mixing feed meant half a scoop of this and half a scoop of that, Bell could keep track of exactly how much feed each pen got, enabling him to better track profitability. The app also allows him to keep tabs on cattle intake and health.

Performance Beef has probably been my biggest asset, he said.

He can compare how different cattle perform as well as keeping track of his true costs rather than just estimates.

Were knowing exactly what all of our costs are now versus before it was just pen and paper, he said.

Bell joined North Dakota State University Extension veterinarian and livestock stewardship specialist Gerald Stokka and North Dakota Farmers Union Vice President Jason McKenney on a panel about precision agriculture in livestock at the ninth annual Precision Ag Summit.

While the Summit typically focuses more on farming than ranching, livestock operators have adopted technological advancements, too, Stokka explained. For instance, he compared development of genetics in cattle using techniques like artificial insemination and embryo transfer to development of seed genetics in farming. Both have enabled the industry to move toward more desirable traits.

For Bell, those genetic advancements mean he can use Simmental bulls to breed Angus cows, something that many ranchers avoided in the past due to concerns about pulling calves. He also raises registered Simmental cattle to propagate the genetics he wants to see in cattle.

Besides the genetics and the Performance Beef app, Bell said he also benefits from advancements in feed and medication. He feeds a product with probiotics and ionophores to try to keep cattle healthy and reduce the amount of antibiotics he has to use to treat sick calves.

McKenney, who serves on the board of the North Dakota Livestock Alliance, said the dairy and swine industries also have found many uses for technology in modern operations. From animal identification to heating and cooling and waste management, the industries have used technology not just to improve herds but also to keep animals comfortable and keep operations sustainable, he said.

A happy cow is a cow that makes the money, or in this case, produces milk, he said.

As much as livestock operators use technology now, Stokka sees future development that could help some of the main problems operations face. He sees even better genetic data, looking at things like cow longevity and resistance to disease. He can see applications in imagery, whether drones or satellite or cameras in remote places, to check cattle on pasture. He can see thermal imaging used to help determine spikes in temperature and respiratory problems, even before cattle show signs of illness. He sees stations in pens or pastures where cameras and scales can give updates on cattle, identified by tracking devices. Some of those things already are in the works, and others dont seem as far-fetched as they once would have.

But can technology revitalize a livestock industry that has seen many people in recent generations leave?

Id sure like to think so, Stokka said.

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Advancement in genetics, husbandry and more help animal ag - AberdeenNews.com

Genetics

My ‘Tiredness’ Turned Out to Be a Genetic Condition That Raises Cancer Risk – msnNOW

Courtesy Jen B.

In 2012, Bev Michel found a large lump in her breast. This discovery started a medical odyssey that led to a cancer diagnosis and ultimately unraveled the mystery of a variety of health issues that had plagued her for more than eight years.

Following up on the lump with a mammogram and biopsy, Michel got the startling news that she had cancer. The West Chester, Pennsylvania resident immediately jumped into a chemotherapy regimen, undergoing six sessions of chemo and two lumpectomiesonly to find later after genetic testing that her type of cancer, lobular breast cancer, doesn't respond to chemotherapy. She then requested and underwent a double mastectomy, hoping to ensure the cancer was gone for good. But the cancer recurred in 2016near the nodes. So she again had surgery, this time to remove lymph nodes that she later learned were benign.

Michel felt there had to be more to her troubles, and she went to her general practitioner for guidance. "I told her how I was always tired, and how much my joints ached," Michel recalls. "She ran a couple of blood tests, and when she received the results she didn't believe them. She said my iron levels were sky-high, so she retested them. They were even higher." Michel's doctor diagnosed her with hemochromatosis, a metabolic disorder that leads to abnormally high iron levels in the body.

The mineral deposits itself into organs like the heart, liver, and pancreas, and in the joints; it can raise the risk of cancer and other diseases. A normal human absorbs about 8 to 10 percent of the iron they get from their diet; people with hemochromatosis absorb four times as much. The condition is inherited, and people with northern European ancestry have an elevated risk, according to the Genetics Home Reference. Experts estimate that 16 million Americans have elevated iron levels. Michel's diagnosis helped shed light on her family's medical history. "My mom died of breast cancer, had macular degeneration, and heart issueswhich are all signs of the disorder. When I had genetic testing, my results showed that both of my parents had the gene mutation, so of course, I would, too." (Here, doctors reveal the rarest conditions they've ever diagnosed.)

About one in 227 of people of Northern European descent have the condition, and about 10% of white people in the U.S. are carriers, according to National Organization for Rare Disorders. That means they have one copy of the gene mutation that causes hemochromatosis. You need to inherit two copies of the gene, one from each parent, to have the condition, although not everyone with both genes develops it. It's most often diagnosed in men after age 40 and in women after 60, in the postmenopausal years. While it's one of the most common genetic diseases in the U.S., it's less common in African Americans, and people who are of Hispanic, Asian, or Native American descent.

Michel was told she would need to donate blood every few weeks for the rest of her life, as giving blood regularly helps reduce iron levels. The prospect of this sent her to the internet to research other possible treatments. "What I found was that high iron is correlated to cancer, and I'm convinced it's what caused cancer for both my mom and me," she says."I found a doctor at the University of Maryland, Abulkalam M. Shamsuddin, MB, BS, PhD, who had studied the use of something called IP6 for treatment of cancer and iron overload." IP6 stands for inositol hexaphosphate: It's basically a carbohydrate substance that behaves like a vitamin, and it binds with extra iron in the body, explains Michael. "Once I began taking it, I haven't had a blood draw in two years, and my cancer has not recurred. My doctors are amazed."

Through her journey, Michel has found a passion for educating others about this relatively common yet underdiagnosed disorder. "I think there needs to be more open-mindedness among the medical community regarding treatments for conditions like this. Instead of treating only symptoms, look for the cause," she says.

If you have suspicious symptoms and you're not finding answers, Michel advises you be direct: "Ask to be tested for hemochromatosis. It's not an expensive test. If you have cancer, look for a possible correlation to your iron levels. If you test positive, then consider genetic testing for your children's sake. If you have it, they might, too."

Don't miss the 50 everyday habits that reduce your risk of breast cancer.

Gallery: 50 everyday habits that can reduce your risk of breast cancer

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My 'Tiredness' Turned Out to Be a Genetic Condition That Raises Cancer Risk - msnNOW