Category Archives: Genetics

Columbia researchers have uncovered an array of new genes that cause stillbirth, significantly increasing the understanding of the condition's genetic foundations. The findings suggest that genetic analysis could be used to counsel parents who have previously experienced stillbirth and to unlock new human biology.

Using both standard and advanced analysis techniques, the team led by David Goldstein, PhD, and Ronald Wapner, MD, of Columbia University Vagelos College of Physicians and Surgeons (VP&S) identified the likely genetic cause of stillbirth in about one of every 10 cases studied.

"This study shows that careful genetic analyses can often identify the precise genetic causes of stillbirth and demonstrates the importance of diagnostic sequencing in all cases of unexplained stillbirth," says Goldstein, director of the Institute for Genomic Medicine at Columbia University Irving Medical Center. "Of equal importance, the work highlights how little we currently understand about the biology of stillbirth and the role that genomic analysis can play in helping us understand it."

The study was published online today in the New England Journal of Medicine by the Columbia team. Kate Stanley, MS, a research associate in the Goldstein lab, and Jessica Giordano, MS, a research genetic counselor in the reproductive genetics division of the Department of Obstetrics & Gynecology at VP&S, were co-first authors of the study.Presumed Genetic Underpinning, but Few Studies

Stillbirth (the in utero death of a fetus after 20 weeks' gestation) occurs in approximately one in 100 pregnancies and is about 10 times more common than sudden infant death syndrome.

But in the majority of cases, the cause of stillbirth is unknown. Some have been linked to maternal medical conditions such as infection and preeclampsia; 10% to 20% are attributed to large and easily detectable chromosomal abnormalities. Only a few genes have been implicated.

"Unlike postnatal childhood conditions that are presumed to be strongly genetic, stillbirth had yet to be systematically analyzed with modern genome sequencing approaches," says Goldstein.

"All too often, we have no explanation to give parents who experience a stillbirth," says Wapner, professor of obstetrics & gynecology. "Not only are they devastated, they're often left to wonder if it's something they did wrong or if it might happen again."

Genomic Sequencing Plus New Bioinformatic Analyses Find Hidden Genetic Causes

Genomic sequencing has been particularly useful in diagnosing otherwise unexplained childhood disorders and fetal structural defects, and the Columbia team used it for the first time to search for genetic variants that cause stillbirth.

The researchers sequenced all protein-encoding genes--where most known disease-causing genetic variants occur--from 246 stillborn fetuses and deployed new statistical analyses to identify the genetic mutations that caused the death of the fetus.

The combination of traditional sequencing and new analytical techniques revealed small changes in 13 genes that caused fetal death; six of the genes had not been previously linked to stillbirth.

"Although these are small changes in only a single site in the genome, they are, in effect, genomic sledgehammers that either dramatically change or knock out essential genes and appear responsible on their own for fetal demise," Goldstein says.

The small genetic changes explained 8.5% of the stillbirths in the study. When combined with a previous analysis of larger genomic alterations in this group, the researchers determined that 18% of the stillbirths had a known genetic cause.

The analysis also showed a critical difference compared with the study of postnatal genetic conditions.

"Interestingly, some of the changes we found in genes known to cause postnatal diseases and conditions appeared to have more profound effects than the mutations linked to postnatal disease," Goldstein adds.

Clinical Implications

Currently, the analyses required to find causal genetic causes of a stillbirth can be conducted in only a few academic medical centers.

But eventually the findings from this study--and future studies--will help physicians counsel parents and guide clinical care.

"To a woman who's just had a stillbirth, specific knowledge about the cause is critical," Wapner says. "They often blame themselves and some decide not to have any more children."

If the stillbirth can be attributed to a genetic mutation that has only occurred in the fetus, not in the parents, the same problem is unlikely to occur in future pregnancies.

"That knowledge would change the way we would provide care," Wapner says, "and facilitate closure and bereavement for families."

Unlocking New Human BiologyMost genetic diagnostic studies focus on genes already known to cause disease. Because stillbirth has been understudied, however, the team wanted to test whether genetic changes in genes not currently linked to disease contribute to stillbirth.

For this assessment, the researchers used a bioinformatic tool pioneered by the Goldstein lab that focuses on genes that are under the strongest natural selection in the human population--known as "intolerant" genes. The lab team showed that at least 5% of stillbirths are likely explained by mutations in intolerant genes that are not currently linked to any known human disease.

"These novel disease genes appear to be critical for early human development, and the only way to discover them is through the analysis of fetuses that do not develop," Goldstein says.

"We're opening up new frontiers in biology and the more we understand about basic human development, the more we can potentially intervene."

Reference: Stanley et al. (2020).Causal Genetic Variants in Stillbirth. The New England Journal of Medicine.DOI: 10.1056/NEJMoa1908753.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Genetic Variants and the Biology of Stillbirth - Technology Networks

Genetic variation combined with elevated aggression scores may predict childhood suicidal thoughts, while suicidal thoughts in childhood may point to young adult depression, according to data published in the Journal of Affective Disorders.

Researchers at the University of Pennsylvania wanted to determine if suicidal ideation in childhood was associated with genes indicative of suicidal ideation in adults. They also wanted to determine if aggression played a role in childhood suicidal thoughts.

A psychiatric disorder is present in more than 90% of adult suicides, according to the investigators, and aggression is associated with increased suicidal behaviors in both children and adults. Uncovering the role of childhood suicidal behavior on the development of psychiatric disorders later in life, as well as the influence of aggression, could help with suicide prevention efforts.

A total of 478 participants aged 8 through 18 years enrolled in the study and received ongoing assessment until age 19. Using multiple behavior assessment tools, researchers found that 25.9% of participants reported suicidal thoughts during 1 or more visits. These thoughts occurred for the first time at a median age of 13 years (mean age, 12.72.9 years; range, 8-18 years). Of the 17 children that attempted suicide, 10 reported aggression. Results of a Cox Survival analysis demonstrated a significant association between childhood aggression and suicide attempts.

To determine the role of genetics in the onset of suicidal thoughts, investigators tested specific haplotypes within ANKK1-DRD2 and HTR2C as potential predictors of suicidal thoughts and behaviors. Structural equation model results demonstrated that 3 single nucleotide polymorphisms (SNPs) within the HTR2C gene, 1 SNP in the ANKK1 gene, and 2 haplotypes AAAC in the ANKK1-DRD2 complex and the CCC haplotype in the HTR2C gene were significantly associated with suicidal ideation in childhood.

Limitations of the study include the relatively small sample size and the use of assessments conducted between 1990 and 2010, which does not account for the rise in suicide rates over the past decade.

Using genetic sequencing, researchers found specific haplotypes within ANKK1-

DRD2 and HTR2C genes are associated with either risk or resilience to developing suicidal

thoughts in childhood, depending on the individuals genetic background. Determining overall levels of aggression further helps determine which children will develop suicidal thoughts.

These observations have the potential to provide a framework for precision medicine that utilizes both genetic variation and phenotypic markers for early intervention and treatment, the researchers concluded.

Reference

Hill SY, Jones BL, Haas GL. Suicidal ideation and aggression in childhood, genetic variation and young adult depression [published online July 24, 2020]. J Affect Disord. doi: 10.1016/j.jad.2020.07.049

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Evaluating the Role of Genetics in Pediatric Suicidal Ideation and Aggression - Psychiatry Advisor

A startup developing precision health technology for cancer has raised its first major round of venture capital funding.

Chicago-based CancerIQ said Thursday that it had raised a Series A funding round of $4.8 billion, led by HealthX Ventures, which is a digital health-focused venture capital firm. The company said it plans to use the money to further growth of its product offering and integration with electronic health records and genetic testing partners.

CancerIQs technology is focused on allowing hospitals to use genomics to personalize the prevention and early detection of cancers. Designed to integrate easily into the clinical workflow, the platform helps providers identify, evaluate and manage populations based on genetic risk factors while also enabling virtual visits.

Our mission is really to predict and preempt hereditary diseases, starting off with those that are most prevalent in our community, said CancerIQ CEO Feyi Ayodele in a phone interview. Diseases that are of particular interest include hereditary breast, ovarian and colon cancer, as well as familial hypercholesterolemia, she added.

The company said its workflows allow health systems to use precision health strategies for patients predisposed to cancer by identifying the 25% of those who qualify for genetic testing; streamlining the genetic testing and counseling process, over telehealth if required; managing high-risk patients over time; and tracking outcomes at the individual and population levels.

Partnering is of interest as well, in diagnostics as well as life sciences.

If you think about it, there are a number of innovations out there billions raised for genetic testing companies and liquid biopsy companies and companies that are producing targeted therapies, Ayodele said. The challenges they all face are provider knowledge that patients are appropriate for that therapy and ease of use for providers to actually take advantage of those innovations that are out there.

The news closely follows the release on Aug. 6 of a report by the University of Pittsburgh Medical Centers Center for Connected Medicine, showing that most hospital and health systems foresee an increase in genomics and genetics vendors in 2023, with nine-in-10 saying they were already providing genomic or genetic testing or were planning to do so.

Photo: claudenakagawa, Getty Images

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CancerIQ raises $4.8M Series A funding round for cancer precision health technology - MedCity News

LONDON--(BUSINESS WIRE)--Technavio has been monitoring the animal genetics market and it is poised to grow by USD 1.79 billion during 2020-2024, progressing at a CAGR of 7% during the forecast period. The report offers an up-to-date analysis regarding the current market scenario, latest trends and drivers, and the overall market environment.

Technavio suggests three forecast scenarios (optimistic, probable, and pessimistic) considering the impact of COVID-19. Please Request Free Sample Report on COVID-19 Impact

Frequently Asked Questions-

The market is concentrated, and the degree of concentration will accelerate during the forecast period. Animal Genetics Inc., AquaGen AS, Aviagen Group, Coperatie Koninklijke CRV u.a., Genetic Veterinary Sciences Inc., Genus Plc, Hendrix Genetics BV, Neogen Corp., Topigs Norsvin, and Zoetis Inc. are some of the major market participants. To make most of the opportunities, market vendors should focus more on the growth prospects in the fast-growing segments, while maintaining their positions in the slow-growing segments.

Animal Genetics Market 2020-2024: Segmentation

Animal Genetics Market is segmented as below:

To learn more about the global trends impacting the future of market research, download a free sample: https://www.technavio.com/talk-to-us?report=IRTNTR40040

Animal Genetics Market 2020-2024: Scope

Technavio presents a detailed picture of the market by the way of study, synthesis, and summation of data from multiple sources. Our animal genetics market report covers the following areas:

This study identifies the increase in consumption of animal-derived food products as one of the prime reasons driving the animal genetics market growth during the next few years.

Animal Genetics Market 2020-2024: Vendor Analysis

We provide a detailed analysis of vendors operating in the animal genetics market, including some of the vendors such as Animal Genetics Inc., AquaGen AS, Aviagen Group, Coperatie Koninklijke CRV u.a., Genetic Veterinary Sciences Inc., Genus Plc, Hendrix Genetics BV, Neogen Corp., Topigs Norsvin, and Zoetis Inc. Backed with competitive intelligence and benchmarking, our research reports on the animal genetics market are designed to provide entry support, customer profile and M&As as well as go-to-market strategy support.

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Animal Genetics Market 2020-2024: Key Highlights

Table of Contents:

PART 01: EXECUTIVE SUMMARY

PART 02: SCOPE OF THE REPORT

PART 03: MARKET LANDSCAPE

PART 04: MARKET SIZING

PART 05: FIVE FORCES ANALYSIS

PART 06: MARKET SEGMENTATION BY SOLUTION

PART 07: CUSTOMER LANDSCAPE

PART 08: GEOGRAPHIC LANDSCAPE

PART 09: DECISION FRAMEWORK

PART 10: DRIVERS AND CHALLENGES

PART 11: MARKET TRENDS

PART 12: VENDOR LANDSCAPE

PART 13: VENDOR ANALYSIS

PART 14: APPENDIX

PART 15: EXPLORE TECHNAVIO

About Us

Technavio is a leading global technology research and advisory company. Their research and analysis focuses on emerging market trends and provides actionable insights to help businesses identify market opportunities and develop effective strategies to optimize their market positions. With over 500 specialized analysts, Technavios report library consists of more than 17,000 reports and counting, covering 800 technologies, spanning across 50 countries. Their client base consists of enterprises of all sizes, including more than 100 Fortune 500 companies. This growing client base relies on Technavios comprehensive coverage, extensive research, and actionable market insights to identify opportunities in existing and potential markets and assess their competitive positions within changing market scenarios.

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Insights on the Global Animal Genetics Market 2020-2024 | COVID-19 Analysis, Drivers, Restraints, Opportunities and Threats | Technavio - Business...

Aug. 12, 2020 12:00 UTC

BOTHELL, Wash.--(BUSINESS WIRE)--Seattle Genetics, Inc., Inc. (Nasdaq:SGEN) today announced that Australian regulatory authorities have approved TUKYSA (tucatinib) in combination with trastuzumab and capecitabine for the treatment of patients with advanced unresectable or metastatic HER2-positive breast cancer, including patients with brain metastases, who have received one or more prior anti-HER2-based regimens in the metastatic setting. Australia joins U.S., Switzerland, Canada and Singapore that approved TUKYSA under Project Orbis, an initiative of the U.S. Food and Drug Administration (FDA) Oncology Center of Excellence that provides a framework for concurrent submission and review of oncology drugs among participating international regulatory agencies.

In April, TUKYSA became the first new medicine approved in the United States under Project Orbis, and its approval is currently under review in the European Union. TUKYSA is an oral, small molecule tyrosine kinase inhibitor (TKI) of HER2, a protein that contributes to cancer cell growth.1,2

The rapid approval of concurrent global reviews under FDAs Project Orbis for TUKYSA will allow for accelerated market entry of this new best-in-class treatment to HER2-positive breast cancer patients in need, said Clay Siegall, Ph.D., Chief Executive Officer at Seattle Genetics. As our company continues to expand globally, we look forward to bringing TUKYSA to patients around the world.

The approvals are based on results from the pivotal trial HER2CLIMB, a randomized (2:1), double-blind, placebo-controlled trial that enrolled 612 patients with HER2-positive unresectable locally advanced or metastatic breast cancer who had previously received, either separately or in combination, trastuzumab, pertuzumab, and ado-trastuzumab emtansine (T-DM1). The study results were published in The New England Journal of Medicine in December 2019. The company is pursuing a broad development strategy for TUKYSA in earlier stage HER2-positive breast cancer and other solid tumors.

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 growth of cancer cells. In 2018, more than two million new cases of breast cancer were diagnosed worldwide, including nearly 523,000 in Europe.3 Between 15 and 20 percent of breast cancer cases are HER2-positive.4 Historically, HER2-positive breast cancer tends to be more aggressive and more likely to recur than HER2-negative breast cancer.5,6,7 Up to 50 percent of metastatic HER2-positive breast cancer patients develop brain metastases over time.8,9,10

About TUKYSA (tucatinib)

TUKYSA is an oral medicine that is a tyrosine kinase inhibitor of the HER2 protein. In vitro (in lab studies), TUKYSA inhibited phosphorylation of HER2 and HER3, resulting in inhibition of downstream MAPK and AKT signaling and cell growth (proliferation), and showed anti-tumor activity in HER2-expressing tumor cells. In vivo (in living organisms), TUKYSA inhibited the growth of HER2-expressing tumors. The combination of TUKYSA and the anti-HER2 antibody trastuzumab showed increased anti-tumor activity in vitro and in vivo compared to either medicine alone.11 In the U.S., TUKYSA is approved in combination with trastuzumab and capecitabine for adult patients with advanced unresectable or metastatic HER2-positive breast cancer, including patients with brain metastases (disease that has spread to the brain), who have received one or more prior anti-HER2-based regimens in the metastatic setting.

TUKYSA is approved in the U.S., Switzerland, Canada, Singapore and Australia and is under review for approval in the EU.

U.S. Important Safety Information

Warnings and Precautions

If diarrhea occurs, administer antidiarrheal treatment as clinically indicated. Perform diagnostic tests as clinically indicated to exclude other causes of diarrhea. Based on the severity of the diarrhea, interrupt dose, then dose reduce or permanently discontinue TUKYSA

Monitor ALT, AST, and bilirubin prior to starting TUKYSA, every 3 weeks during treatment, and as clinically indicated. Based on the severity of hepatoxicity, interrupt dose, then dose reduce or permanently discontinue TUKYSA.

Adverse Reactions

Serious adverse reactions occurred in 26% of patients who received TUKYSA. Serious adverse reactions in 2% of patients who received TUKYSA were diarrhea (4%), vomiting (2.5%), nausea (2%), abdominal pain (2%), and seizure (2%). Fatal adverse reactions occurred in 2% of patients who received TUKYSA including sudden death, sepsis, dehydration, and cardiogenic shock.

Adverse reactions led to treatment discontinuation in 6% of patients who received TUKYSA; those occurring in 1% of patients were hepatotoxicity (1.5%) and diarrhea (1%). Adverse reactions led to dose reduction in 21% of patients who received TUKYSA; those occurring in 2% of patients were hepatotoxicity (8%) and diarrhea (6%).

The most common adverse reactions in patients who received TUKYSA (20%) were diarrhea, palmar-plantar erythrodysesthesia, nausea, fatigue, hepatotoxicity, vomiting, stomatitis, decreased appetite, abdominal pain, headache, anemia, and rash.

Lab Abnormalities

In HER2CLIMB, Grade 3 laboratory abnormalities reported in 5% of patients who received TUKYSA were: decreased phosphate, increased ALT, decreased potassium, and increased AST. The mean increase in serum creatinine was 32% within the first 21 days of treatment with TUKYSA. The serum creatinine increases persisted throughout treatment and were reversible upon treatment completion. Consider alternative markers of renal function if persistent elevations in serum creatinine are observed.

Drug Interactions

Use in Specific Populations

For more information, please see the full Prescribing Information for TUKYSA here.

About Seattle Genetics

Seattle Genetics, Inc. is a global biotechnology company that discovers, develops and commercializes transformative cancer medicines to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) and PADCEV (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. TUKYSA (tucatinib), a small molecule tyrosine kinase inhibitor, is approved in certain HER2-positive metastatic breast cancers. The company is headquartered in Seattle, Washington area, with locations 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 statements made in this press release are forward looking, such as those, among others, relating to the therapeutic potential of TUKYSA including its efficacy, safety and therapeutic uses including the potential use of TUKYSA in combination with trastuzumab and capecitabine for the treatment of patients with metastatic HER2-positive breast cancer, who have previously received two or more anti-HER2 regimens in any setting, and the potential to bring TUKYSA to patients in Australia, Canada, Singapore and Switzerland. 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 reimbursement processes, the extent of reimbursement, the possibility of adverse events or safety signals, the possibility that the ultimate utilization and adoption of TUKYSA by prescribing physicians may be limited, including due to impacts related to the COVID-19 pandemic, the possibility of difficulties in supplying and commercializing a new therapeutic agent, and the possibility of adverse regulatory actions. 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 June 30, 2020 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.

1 TUKYSA [package insert]. Bothell, WA: Seattle Genetics, Inc.2 Anita Kulukian, Patrice Lee, Janelle Taylor, et al. Preclinical Activity of HER2-Selective Tyrosine Kinase Inhibitor Tucatinib as a Single Agent or in Combination with Trastuzumab or Docetaxel in Solid Tumor ModelsMol Cancer Ther 2020;19:976-987.3 Breast. Globocan 2018. World Health Organization. 2019. https://gco.iarc.fr/today/data/factsheets/cancers/20-Breast-fact-sheet.pdf 4 Slamon D, Clark G, Wong S, et al. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science. 1987; 235(4785): 177-82.5 Loibli S, Gianni L. HER2-positive breast cancer. Lancet. 2017; 389(10087): 2415-29.6 Slamon D, Clark G, Wong S, et al. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science. 1987; 235(4785): 177-82.7 Breast Cancer HER2 Status. American Cancer Society website. https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-her2-status.html. Accessed March 9, 2020.8 Freedman RA, Gelman RS, Anders CK, et al. TBCRC 022: a phase II trial of neratinib and capecitabine for patients with human epidermal growth factor receptor 2-positive breast cancer and brain metastases. J Clin Oncol. 2019;37:1081-1089.9 Olson EM, Najita JS, Sohl J, et al. Clinical outcomes and treatment practice patterns of patients with HER2-positive metastatic breast cancer in the post-trastuzumab era. Breast. 2013;22:525-531.10 Bendell JC, Domchek SM, Burstein HJ, et al. Central nervous system metastases in women who receive trastuzumab-based therapy for metastatic breast carcinoma. Cancer. 2003;97:2972-2977.11 TUKYSA [package insert]. Bothell, WA: Seattle Genetics, Inc.

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Seattle Genetics Announces TUKYSA (tucatinib) Approved Within Months for All Countries Participating in FDA's Project Orbis Initiative - BioSpace

Love it or hate it, rocket is popular all over the world. Also known as arugula, roquette and rucola, its known for its pungent and peppery flavours. It might look like an unassuming leafy vegetable, but the reasons for its taste, health benefits and whether we like it all comes down to genetics.

Rocket actually encompasses several species, all of them part of the same family as broccoli, cabbage, kale, mustard and watercress the Brassicales. Its distinctive aroma and flavours are created by chemical compounds produced by its leaves, called isothiocyanates. Some of these compounds can be eye-wateringly hot, whereas others can have a radishy flavour or none at all.

In the wild, isothiocyanates are thought to help defend plants from herbivores and disease, and also help it tolerate environmental stress. But for humans, eating isothiocyanates confers health benefits. Studies have shown them to have anti-cancer properties, and anti-neurodegenerative effects against diseases such as Alzheimers.

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For this reason, plants containing isothiocyanates interest scientists particularly those with little taste and flavour. One such compound is sulforaphane, which is found in rocket and broccoli. Several years ago, researchers produced a super broccoli with high amounts of sulforaphane. Consumers couldnt taste the difference, and it was later shown to be effective in preventing and slowing prostate cancer and in lowering cholesterol.

But one advantage with rocket is that it doesnt need cooked to be eaten. Heating other Brassicales, like broccoli, to over 65C inactivates myrosinase, which is an enzyme in their tissues that converts compounds called glucosinolates into sulforaphane and other isothiocyanates when people chew these plants. If the myrosinase is inactivated, consumers will receive little or none of the associated health benefits, no matter how much is bred into the plants.

Chewing aside, theres some evidence to suggest that our gut microflora possess their own myrosinase and can convert glucosinolates to isothiocyanates for us. The amounts this produces are likely to be quite small, but release may be sustained, exposing our cells to compounds like sulforaphane for longer periods.

But the biggest barrier to people getting these beneficial molecules from rocket is the taste. This depends on when and where rocket crops are grown. In the summer, leaves can be extremely spicy and pungent, whereas in the winter they can be bland and tasteless.

There are many different varieties of rocketiStock)

Growth temperature likely plays a big role in determining the amounts of isothiocyanates released from leaves. Probably a stress response by the plants, it means hotter countries like Italy may produce more pungent leaves.

You can test this effect at home. Get two small pots and some rocket seeds from a local garden centre or supermarket. Plant two or three seeds in each. Keep one well-watered and relatively shaded, and the other in direct sunlight, watering infrequently. After a few weeks, taste the leaves from each pot one should taste much hotter.

The taste and flavour of rocket also varies because of the genetics of different varieties. Not only do leaves contain hot, pungent isothiocyanates, but also sugars (which create sweetness); pyrazines (which can smell earthy and pea-like); aldehydes (which smell like grass); alcohols (one in particular smells just like mushrooms); and many other types yet to be identified.

Recently, the worlds first rocket genome and transcriptome sequence was produced from the Eruca sativa species, allowing researchers to understand which genes may be responsible for making the compounds related to taste and flavour. Its genome contains up to 45,000 genes, which is more than the 42,611 genes humans are thought to have.

The research also found that different varieties produce more isothiocyanates and sugars than others. This explains why leaves can taste so different in the supermarket, even when bought from the same shop at the same time of the year. By knowing which genes are expressed in tissues and when, we can select rocket plants with improved taste and flavour profiles and breed new and improved cultivars.

To further complicate matters, our own genetics mean we dont all taste chemical compounds the same. We have many thousands of different odour receptors in our brains, and many different combinations of taste receptors on our tongues. These genetic differences are one of the reasons why coriander tastes different to different people. Those with a variant of the OR6A2 gene perceive the leaves as having a soapy flavour, which is thanks to the aldehyde compounds in coriander that activate this receptor variant.

Depending on whether you have a functioning or non-functioning copy of certain taste receptor genes, you may not be able to taste certain compounds at all. In the other extreme, if you have two working copies of a particular gene, some foods may taste unbearably bitter and unpleasant.

Another classic example is Brussels sprouts. Some people love them, while others loathe them. This is because of the gene TAS2R38 which gives us the ability to taste the bitter glucosinolate compounds in these vegetables as well as rocket.

Love or loathe? The superfood continues to divide (iStock)

Those people with two working copies of the gene are bitter supertasters. People with only one are medium tasters, while those with no working copies are blind to these compounds. So what is intense and inedible to one person might be pleasant and mild to another.

This partly explains peoples general food preferences and rocket leaves are an excellent example of these processes in action. A consumer study of rocket leaves showed that some people like them hot and pungent, others like them sweet and mild, and others just dont like them at all.

However, peoples culture and life experience probably also determine whether they like rocket and other foods. A previous study of rocket showed that peoples genetic differences are not necessarily an indicator of whether they will like something. Its perfectly possible to be a bitter supertaster and like rocket and Brussels sprouts depending on your upbringing and exposure to them.

Another study showed that preference for flavour and pungency of white radish is linked to differences in geography and culture. Japanese and Korean people liked pungency created by an isothiocyanate much more than Australians. Pickled radish is a common condiment in Asian countries: being regularly exposed to a food may predispose people to like it, irrespective of their taste sensitivity.

Very little is currently known about the interactions between plant and human genotypes. But ongoing research aims to find out which compounds people with different TAS2R38 genotypes are sensitive to. This will make it possible in the future to selectively breed in (or out) certain genes, and produce rocket types tailored to a persons preferences.

Luke Bell is a lecturer in temperate horticulture at the University of Reading. This article first appeared on The Conversation

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Do you have the rocket gene? Why genetics may decide whether you like the peppery veggie - The Independent

There are worse places to spend a COVID-19 lockdown than next to a sanctuary with one of the worlds rarest birdsthe New Zealand takah. And during this strange moment in history, its wonderful to watch these remarkable relics from the pasttakah were twice declared extinct and twice rebounded unexpectedly from the deadin the shadow of their last wild refuge, the Murchison Mountains in Fiordland National Park.

Indeed, these colorful swamphens and the coronavirus pandemic both exemplify opposite extremes of widely held beliefs about the natural world; attitudes towards nature, moreover, that reflect much popular misunderstanding about evolutionary biologyand genetics in particular.

Given this, the much-regarded bird and the much-reviled virus can usefully illustrate some of the important contradictions and confusions that befuddle broader public appreciation of modern genetic science. So lets begin with a little more detail about the former, the amusingly clumsy-looking takah, the worlds largest rail.

Well-known in pre-contact times to New Zealands indigenous Maori, takah were initially thought extinct by the first European scientists to examine their fossilized remainsan assessment that proved mistaken when a small number of these flightless rails were caught during the latter part of the 19th century, the last in 1898.

Presumed extinct (for the second time) for the following fifty years, takah were famously rediscovered in the rugged and remote Fiordland mountains in 1948an event that triggered both an international avalanche of publicity and intense debate about how best to protect the last remnants of the species. Today considered a national taonga or treasure, this cherished bird is now a darling poster child for New Zealand conservation.

They are also, by all accounts, extremely tastyearly Maori hunted them extensively as a source of much-prized feathers and food, and the sealers who caught and cooked one in 1850 declared it a most delicious dainty.

This then raises a question that is less facetious than might first appear: Would it be okay to eat a takah? And if not, why not? Here we can start to explore the popular beliefs about nature alluded to above, ones that result in wider uncertainty about modern genetic science and, at an extreme, vocal opposition to genetic modification and genetic engineering.

To many nature-lovers, even talking about eating an animal like the takah would likely seem immoral; after all, these birds (like other endangered species everywhere, from black rhinos to gorillas to whales) are special. Yet if we examine this belief, being special appears to amount to little more than being rare. Nor could being wild be a cause for special status; this implies, for instance, that captive-bred rare animals are of less value than their free-living counterparts.

Yet while it is rationally unclear (independent of scarcity) why wild animals should have greater intrinsic value than farmed ones, it is nevertheless a distinction that many people maketreasuring rare or wild animals over well-known domesticated ones. (This inconsistency in attitudes is also evident in the furor over the euthanizing of a single giraffe in 2014 in a zoo in Denmark, an agricultural country where tens of thousands of farm animals are routinely slaughtered each day.) If takah were as common as chickens, sayor whales as widespread as cowswould they still be seen as special?

The old adage familiarity breeds contempt is also evident in antipathy towards genetically modified foods. That is, in the same way that familiar livestock are overlooked in comparison with wild/rare animals, so too are supposedly natural everyday foodstuffs in the vehement rejection of unnatural genetically adulterated Frankenfoods. In reality, of course, all of our staple crops have themselves been genetically modified through selective breeding over time, with manyincluding such common items as corn, peaches and watermelonsveritable monstrosities compared to their wild precursors.

Furthermore, such unexamined beliefs about what is natural and what is unnatural help explain how support for wildlife conservation can morph into opposition to genetic sciencemost especially, in the idea that human activities destroy the delicate balance of nature. Despite having been long-since rejected by ecologists, the romanticized concept of a natural balanceanthropomorphised as a wise and benign Mother Nature, constantly striving to maintain the natural harmonystill holds sway in public consciousness.

A surprising example of this concept of purpose and harmony in nature is Pope Franciss recent suggestion that COVID-19 is natures response to climate change. While the Pope is an odd source for such a claim (after all, traditionally God is the one who directs plagues for His own purposes, as many believers still insist), it is nevertheless based on the same belief in a natural (or supernatural) guiding force maintaining natures equilibrium in a world bespoilt by humankind.

Such a notion, of course, stands in stark contrast to the Darwinian concept of life, in which the illusion of harmony merely masks a precarious stalemate in the ceaseless competition between and among species. Moreover, the evolutionary view regards nature as purposeless and amoral, with the ultimate aim of living organisms being simply survival and replication.

In which case, COVID-19 is not natures revenge (or Gods wrath), but rather the mindless spread of an incredibly successful sequence of genes, a contagious virus replicating at the expense of other organisms that just happen to be us. Plagues and pestilence, in other words, are as much a part of nature as wonderful animals like the takah (a point humorously made in Monty Pythons All things dull and ugly).

Potentially, the current coronavirus crisis may disabuse many people of their romanticized notions about benevolent and harmonious nature; at any rate, the overwhelming world reaction is not simply to let nature take its course but rather to act to mitigate its worse effects. And while the unexpectedness and novelty of the pandemic has left many nations floundering over how best to respond, the ultimate solution(s) can only be derived from evidence and factsin other words from empirical science. At the same time, however, the fight against COVID-19 will likely be hindered by the very things that dog the rational application of genetics to human needsmisinformation, conspiracy thinking and pseudo-science.

But before drawing the disparate threads of this argument together, lets return to the takah, itself an excellent example of the pitiless Darwinian account of life. Like much of New Zealands avian fauna, the takahs ancestors were accidental, wind-blown arrivals on these remote South Pacific islands. Lacking competition in their new environment, takah numbers rapidly expanded while at the same time evolutionary processes, including island gigantism, gradually morphed them into the large, flightless and slow-breeding animals we see today. And, like numerous other New Zealand species, the takah were therefore easily out-competed by the next set of arrivals, the fast-breeding mammals introduced by human beings.

Yet while the ensuing tidal wave of bird extinctions was initially viewed as natural and inevitable, modern attitudes have changedand now New Zealands conservation efforts are directed at preserving the surviving native species by eradicating the more recent mammalian invaders. A tragic irony here is that, in the name of conservation, many native species are kept alive only through the mass killing of exotics.

Further ironies abound. Reassured by evidence-based science, the majority of New Zealanders accept the use of 1080 sodium monofluoroacetate poison as the most effective means to control pest speciesyet at the same time, research into more humane genetic alternatives (such as the use of gene drives) are stymied by the countrys vocal anti-GMO movement and its dated and restrictive legislation on genetic technology.

Indeed, the emotional, anti-scientific hostility to 1080 poison captures many of the points raised above, most especially in the belief that native and introduced species can coexist in a natural equilibrium (a notion belied by the estimated 25 million native New Zealand birds killed by introduced predators each year).

As for the takah itself, an initial willingness to let nature take its course was a factor in the species calamitous decline to just over 100 individuals by the 1980s, before more scientifically guided (and better funded) conservation policies began to take effect. Genetics has since played a strong part in hauling the takah back from the brink of extinction, particularly in mitigating the damaging effects of in-breeding. Genetic research has also uncovered surprising findings about the takahs origins; originally divided into two subspeciesone in New Zealands North Island and the other in the South Islandmore recent genetic analysis suggests these were instead two separate species, with the extinct northern variety descended from Australian swamphens and the extant southern species more closely related to South African rails. (Convergent evolution explains the physical similarities between the distinct species on either island.)

And here, takah genetics can usefully illustrate a final point about our conceptions (and misconceptions) of the natural world. Those most attracted to idealized visions of nature (and hence prey to anti-science attitudes), often assume that science robs nature of its glory and wonder. In fact it does the opposite; the more we understand about animals such as the takah (or indeed viruses such as SARS-cov-2), the more we are able to marvel at the wonders of evolved creation. And while romantic wishful thinking wont save the tasty takah from extinction (nor us humans from COVID-19), modern science just might.

Patrick Whittle has a PhD in philosophy and is a freelance writer with a particular interest in the social and political implications of modern biological science. Follow him on his website patrickmichaelwhittle.com or on Twitter @WhittlePM

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How a rare bird and the coronavirus remind us that our safety depends on sciencenot wishful thinking - Genetic Literacy Project

Dr. Freathys team will study measures including the weight of a baby and placenta, and how early or late the baby is born

A new 1.4 million award from the Wellcome Trust will help researchers at the University of Exeter understand the processes that link a pregnant mothers obesity with health problems for her and her baby.

Obesity is known to be one of the most common risk factors for complications of pregnancy and birth. Now, Dr Rachel Freathy, at the University of Exeter Medical School, has been awarded a Wellcome Senior Research Fellowship to study human genetics data in babies, mothers and fathers to understand the mechanisms involved in causing these health problems, with a view to improving care.

Over five years, Dr. Freathys team will study measures including the weight of a baby and placenta, and how early or late the baby is born. They will investigate how these measures link with known risk factors connected to obesity in mothers, such as pregnancy-related diabetes and high blood pressure.

Dr Freathy said: Weve long known that obesity in pregnancy increases the risk of a range of complications for mother and baby yet little is known about the mechanisms that underpin these problems. Its essential that we understand processes such as how a fetus regulates its own growth, how the mothers glucose and blood pressure affect the fetus, and how the fetus itself might influence changes in the mothers body in pregnancy. The award from Wellcome gives us an amazing opportunity to really understand these processes and how they act together to influence risk in an individual pregnancy, which could help us to personalise antenatal care in the future.

Previous work led by Dr. Freathys team has identified 190 links between our genetic code and birth weight, and has shown that many of these genetic links to birth weight also influence risk of diseases such as Type 2 diabetes in later life.

Professor Clive Ballard, Executive Dean and Pro-Vice Chancellor of the University of Exeter Medical School, said: Huge congratulations to Rachel, who has built up internationally-renowned expertise in the field of the genetics of mothers and babies. Already her work has shaped understanding in this field, and has the potential to make a significant impact on care.

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1.4 million for genetics research on how obesity in pregnancy affects mother and baby - Mirage News

A new market report by Market Research Intellect on the Human Genetics Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

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Sales and sales divided by Applications:

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Human Genetics Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Opportunities and Forecast 2026 - Cole of Duty

The clinical presentation of Covid-19 varies from patient to patient and understanding individual genetic susceptibility to the disease is therefore vital to prognosis, prevention, and the development of new treatments.

For the first time, Italian scientists have been able to identify the genetic and molecular basis of this susceptibility to infection as well as to the possibility of contracting a more severe form of the disease. The research will be presented to the 53rd annual conference of the European Society of Human Genetics, being held entirely on-line due to the Covid-19 pandemic, today [Saturday].

Professor Alessandra Renieri, Director of the Medical Genetics Unit at the University Hospital of Siena, Italy, will describe her teams GEN-COVID project to collect genomic samples from Covid patients across the whole of Italy in order to try to identify the genetic bases of the high level of clinical variability they showed. Using whole exome sequencing (WES)[1] to study the first data from 130 Covid patients from Siena and other Tuscan institutions, they were able to uncover a number of common susceptibility genes that were linked to a favorable or unfavorable outcome of infection. We believe that variations in these genes may determine disease progression, says Prof Renieri. To our knowledge, this is the first report on the results of WES in Covid-19.

Searching for common genes in affected patients against a control group did not give statistically significant results with the exception of a few genes. So the researchers decided to treat each patient as an independent case, following the example of autism spectrum disorder. In this way we were able to identify for each patient an average of three pathogenic (disease-causing) mutations involved in susceptibility to Covid infection, says Prof Renieri. This result was not unexpected, since we already knew from studies of twins that Covid-19 has a strong genetic basis.

Although presentation of Covid is different in each individual, this does not rule out the possibility of the same treatment being effective in many cases. The model we are proposing includes common genes and our results point to some of them. For example, ACE2 remains one of the major targets. All our Covid patients have an intact ACE2 protein, and the biological pathway involving this gene remains a major focus for drug development, says Prof Renieri. ACE2 is an enzyme attached to the outer surface of several organs, including the lungs, that lowers blood pressure. It serves as an entry point for some coronaviruses, including Covid-19.

These results will have significant implications for health and healthcare policy. Understanding the genetic profile of patients may allow the repurposing of existing medicines for specific therapeutic approaches against Covid-19 as well as speeding the development of new antiviral drugs. Being able to identify patients susceptible to severe pneumonia and their responsiveness to specific drugs will allow rapid public health treatment interventions. And future research will be aided, too, by the development of a Covid Biobank accessible to academic and industry partners.

The researchers will now analyze a further 2000 samples from other Italian regions, specifically from 35 Italian Hospitals belonging to the GEN-COVID project.[2]

Our data, although preliminary, are promising, and now we plan to validate them in a wider population, says Prof Renieri. Going beyond our specific results, the outcome of our study underlines the need for a new method to fully assess the basis of one of the more complex genetic traits, with an environmental causation (the virus), but a high rate of heritability. We need to develop new mathematical models using artificial intelligence in order to be able to understand the complexity of this trait, which is derived from a combination of common and rare genetic factors.

We have developed this approach in collaboration with the Siena Artificial Intelligence Lab, and now intend to compare it with classical genome-wide association studies[3] in the context of the Covid-19 Host Genetics Initiative, which brings together the human genetics community to generate, share, and analyze data to learn the genetic determinants of COVID-19 susceptibility, severity, and outcomes. As a research community, we need to do everything we can to help public health interventions move forward at this time.

Chair of the ESHG conference, Professor Joris Veltman, Dean of the Biosciences Institute at Newcastle University, Newcastle upon Tyne, UK, said: We are very excited to have this work on the genetics of COVID19 susceptibility presented as one of our late-breaking abstract talks at the ESHG. Our Italian colleagues present the first insight into the role of genetic susceptibility influencing the severity of the response to a COVID19 infection. It needs to be expanded to encompass much larger populations, but it is impressive to see the speed at which research on this virus has proceeded in just a few months time.

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New Genetic Identification of COVID-19 Susceptibility Will Aid Treatment - SciTechDaily