Monthly Archives: August 2021

OU College Of Medicine Researcher Sheds Light On Connection Between Genes, COVID-19 – News On 6

Posted: August 31, 2021 at 2:18 am

A researcher at the OU College of Medicine has weighed in on a large genetics and COVID-19 study that was recently completed.

The study found 13 genes which could play a role in contracting the virus and how severe someone's battle with COVID-19 could be.

"Some people get COVID and nothing happens, said Dr. Dharambir Sanghera, Professor of Pediatric Genetics at the OU College of Medicine. "And they are asymptomatic. Some people, the disease gets so aggravated, and they get so severely sick they end up in hospitals and sometimes after hospitals people end up dying."

The answer as to why, Sanghera said, could lie in genetics.

"This is the first time we are seeing this association," Dr. Sanghera said.

Some of the genes found could slightly protect people from getting infected, such as having Type O blood, which has been predicted before.

However, 13 were found to predispose some more than others to more severe cases of covid-19, especially genes like obesity

"All the diabetes is also linked to severity of COVID," Dr. Sanghera said.

She said Oklahoma's poor health track record has played a role in the outcomes in the state and in the U.S.

"We are ranked second in chronic respiratory diseases and ranked four in cancer diabetes and obesity," Dr. Sanghera said.

Dr. Sanghera also said more genetic studies need to be completed to understand who is at the highest risk.

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Precision medicine in advanced ovarian cancer: Incorporating homologous recombination deficiency (HRD) genomic instability testing to transform care -…

Posted: August 31, 2021 at 2:18 am

The treatment landscape for advanced ovarian cancer has evolved from where it was ten years ago, when at that stage it was very much a standard approach of surgery, chemotherapy, and then watch and wait to one where patients receive individualized care based on the unique features of their cancer, said Warner Huh, MD, FACOG, FACS, chair of the Department of Obstetrics and Gynecology at the University of Alabama at Birmingham School of Medicine. I dont think we have ever seen so many options to help improve clinical outcomes in the modern management of ovarian cancer than we have with the introduction of personalized medicine. To say its been transformative would be an understatement.

Identifying the Right Patients for Personalized MedicineThe introduction of PARP inhibitors for the treatment of certain women with advanced ovarian cancer is one recent example of how personalized medicine is transforming the way the disease is treated. Research has demonstrated that targeted treatment with PARP inhibitor-based regimens shows greater clinical benefit in women with homologous recombination deficient tumors as HRD is associated with an increased sensitivity to PARP inhibition. This group of patients accounts for approximately 50 percent of the advanced ovarian cancer population.

HRD is the functional impairment in a key DNA damage repair pathway that hinders a cell from fixing damaged DNA. Identifying HRD may suggest that a patient is a candidate for an appropriate PARP inhibitor-based regimen, which further blocks remaining DNA repair pathways causing the cancer cells to die. Given the relationship with HRD-positivity and PARP inhibitor regimens, HRD genomic instability testing is an important component of advanced ovarian cancer management.

Advanced ovarian cancer is a tough disease. When I see a patient is HRD-positive, I make sure she understands the results. I use it as an opportunity to share what it may mean for her care, said Dr. Huh. This conversation can also serve as a way to discuss the full treatment path ahead and set expectations for whats to come during different phases of her treatment journey.

Certain mutations that signal the presence of HRD, such as BRCA1/2 mutations, and other markers of genomic instability are identified through comprehensive biomarker testing.

In todays treatment landscape where cancer therapy is becoming increasingly personalized and biomarker-based, every woman diagnosed with advanced ovarian cancer should receive HRD genomic instability testing. Knowing that roughly half of our patients are HRD-positive, this testing can identify important information about her tumor which may better inform her treatment plan than testing for a BRCA mutation alone which is present in approximately just 25% of women with the disease, said Dr. Huh.

This puts into perspective the importance of HRD genomic instability testing. Without this test, we are not providing optimal information for informed decision-making about treatment, which is even more crucial given recent advances in medicine have brought us further than before as we aim to offer our patients hope.

However, given the various testing options across tumor types and the overall ongoing evolution in tumor-specific biomarker and genetic testing, gaps in knowledge about HRD genomic instability are complicating the testing landscape and hindering oncologists from consistently conducting the right tests immediately following diagnosis.

Elevating the Standard of Care by Addressing Gaps in KnowledgeAccording to a recent US survey 1 of 230 oncologists conducted by IntegraConnect and sponsored by AstraZeneca, many clinicians often underestimate the prevalence of HRD and the role it plays in treating cancer. The survey, which sought to better understand HRD genomic instability testing habits, barriers to testing and current knowledge gaps, showed that two-thirds of oncologists surveyed thought that fewer than 40 percent of women with advanced ovarian cancer are HRD-positive though the prevalence is much higher at 50 percent.2

The survey also revealed a common misunderstanding about the role of disease markers in ovarian cancer in this rapidly evolving space. Although three-quarters of respondents said that they were extremely or very familiar with HRD testing, 73% incorrectly said that homologous recombination repair (HRR) gene panels found in next-generation sequencing (NGS) tests help identify markers of genomic instability, when in fact, HRD genomic instability and BRCA are the only actionable biomarkers for use of PARP inhibition-based regimens known today.

HRR and HRD are both important features in DNA damage response, but the two terms are often confused. HRR is not a marker of genomic instability and is not a predictive biomarker for who may respond to PARP inhibition so an HRRm gene panel should not be used in place of an HRD test to help inform treatment decisions, said Dr. Huh.

Integrating HRD Genomic Instability Testing into the Full Treatment PlanNow, with a deeper understanding of the underlying biology of advanced ovarian cancer, oncologists have the tools to match the right treatment with the right patient.

Available tests for identifying HRD genomic instability in advanced ovarian cancer include: myChoice CDx from Myriad Genetics; FoundationOne CDx from Foundation Medicine; Caris Molecular Intelligence Comprehensive Genomic Profiling Plus (CGP+) from Caris Life Sciences; and Tempus xT from Tempus. However, 21% of oncologists surveyed did not select any of these HRD testing partners when presented with a list of 12 choices.3

These gaps demonstrate there is still more work to be done to ensure patients receive the right test as soon as possible following diagnosis to inform treatment decisions. One way to approach this is by adding a literal checklist to your clinical routine. In my practice, this checklist includes HRD genomic instability testing and germline testing at the earliest opportunity to ensure we are providing the optimal information to our patients. Simple things can make a big difference and the earlier you conduct HRD genomic instability testing, the better.

Were only at the tip of the iceberg in expanding the clinical utility of precision medicine. We can go even further to improve the treatment of advanced ovarian cancer particularly for the estimated one in two patients with HRD-positive tumors, said Dr. Huh. To sustain progress, the medical community needs to move beyond BRCA testing alone and conduct HRD genomic instability testing at the first opportunity. Without this information, physicians may not be able to optimize treatment decisions based on the patients individuals type of disease.

As we aim to work towards a cure for this devastating disease, we can enhance our care discussions by educating about comprehensive biomarker testing and ensuring that we order the right tests tests at the right time.

Learn more about incorporating HRD testing into clinical practice.

Dr. Warner Huh was compensated for his time associated with this article.

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First-of-its-Kind Study Looks at Link Between Genes and Prostate – News Chant USA

Posted: August 31, 2021 at 2:18 am

In the United States, one in 9 males will get prostate most cancers and greater than 4 million males are at the moment dwelling with the illness.

Today, on the eve of Prostate Cancer Awareness Month, researchers from Johns Hopkins University and the University of Washington School of Medicine introduced theyre collaborating on a first-of-its-kind long-term observational examine to find out how genetic variations can have an effect on affected person outcomes. Dubbed PROMISE (Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness), this analysis will study how explicit genetic profiles can:

PROMISE researchers are looking for prostate most cancers sufferers nationwide, ages 18+ with particular inherited genetic elements utilizing a saliva DNA take a look at. PROMISE will entry every affected persons medical info by way of their doctor each six months. PROMISE will even survey taking part sufferers each six months about their remedy expertise.

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While genetic info has contributed to advances in remedy of illnesses resembling breast most cancers, it has not been extensively utilized in prostate most cancers. Researchers anticipate that the PROMISE examine will result in necessary new discoveries, new analysis and new remedy therapies.

If we want to better understand prostate cancer, we have to better understand genes, defined Dr. Heather Cheng, PhD, affiliate professor of medical oncology at the University of Washington School of Medicine; director of the Prostate Cancer Genetics Clinic at Seattle Cancer Care Alliance; college member at Fred Hutchinson Cancer Research Center; and co- lead investigator of PROMISE. This information is the next step in our collective fight against the disease.

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Dr. Cheng is working intently with Dr. Channing Paller, affiliate professor of oncology and urology at Johns Hopkins University, Sidney Kimmel Comprehensive Cancer Center; affiliate director for oncology of the Johns Hopkins Clinical Research Network; and co-lead investigator of PROMISE. They know that prostate most cancers could also be written in some maless genes, however so are directions for locating new therapies and understanding household danger. Together, Dr. Cheng and Dr. Paller will convey extra genetic info to the battle towards prostate most cancers.

How PROMISE works

PROMISE is totally free. Participants proceed with their present healthcare supplier and dont want to go away residence to take part. Registration will be executed on-line and PROMISE will ship a easy, home-based DNA take a look at equipment. Participants present a saliva pattern and return it by way of pre-paid U.S. mail. The equipment will display screen for 30 most cancers danger genes. PROMISE will ship the outcomes and will present a licensed genetic counselor to assist individuals perceive their outcomes. Participants will be taught if theyve any gene mutations that may have an effect on their care plan. The outcomes could inform sufferers of obtainable remedy choices and beforehand unknown dangers of members of the family growing most cancers.

Benefits of becoming a member of the PROMISE examine.

Prostate most cancers sufferers who be a part of PROMISE will:

PROMISE is supported by a gaggle of mission-driven nonprofit organizations. Study administration is offered by The Prostate Cancer Clinical Trials Consortium (PCCTC). No pharmaceutical corporations or any business pursuits are supporting this analysis. To be taught extra, go to prostatecancerPROMISE.org.

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First-of-its-Kind Study Looks at Link Between Genes and Prostate - News Chant USA

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NSCLC gene therapy: Success rate, other options, and more – Medical News Today

Posted: August 31, 2021 at 2:18 am

Gene therapy is a promising new method for treating non-small cell lung cancer (NSCLC). It allows doctors to target specific genes to prevent cancerous cells from growing and spreading.

NSCLC is a common form of cancer. It causes cancerous cells to form in the tissues of the lung. NSCLC is a serious condition. However, many people receive treatment and survive for years.

Treating NSCLC typically involves interacting with multiple specialists and receiving a combination of therapies. Specific treatment plans depend on factors that include the tumor size, type of NSCLC, and the extent of its spread to other organs.

Surgery, radiation or chemotherapy, and immunotherapy are examples of key techniques that doctors use to treat NSCLC.

Gene therapy is another promising treatment for NSCLC, which targets genes that contribute to the tumor.

There are two main approaches to using gene therapy to treat cancer:

This article focuses on the second approach to NSCLC gene therapy. Read on to learn more.

Getting genes into cells requires making vectors, which are vehicles that scientists engineer to deliver genetic materials. For example, viruses have a natural ability to deliver genetic material into cells and can act as vectors.

Scientists can deactivate parts of the virus that cause infectious diseases. They can then modify the virus to carry genetic material into cancerous cells.

One type of gene therapy for NSCLC targets tumor-suppressor genes, which are the most common gene mutation that contributes to the disease. Another approach involves restoring specific proteins to prevent disease progression.

Other possible applications include inserting genes that:

NSCLC gene therapy is a new form of treatment. However, early results are promising.

A 2017 review suggests that restoring a functional tumor-suppressing gene could slow the growth of cancer cells. Clinical trials have found that inserting tumor-suppressing genes into people who had not responded to other treatments reduced tumor size by up to 50%.

Another review in 2016 suggests that the treatment is more effective when combining NSCLC gene therapy with other therapies, such as chemotherapy or immunotherapy.

According to the American Cancer Society, doctors typically use gene therapy for advanced cancer cases.

NSCLC gene therapy is a new technique. However, it still has to meet rigorous Food and Drug Administration (FDA) standards for safety and effectiveness before a doctor can recommend it.

Gene therapies that the FDA approves are safe. However, they can have side effects, such as:

According to the FDA, gene therapies can transform medicine and provide options for people with illnesses that were previously without a cure. However, every treatment has limitations to its effectiveness.

Some limitations to gene therapy include:

Doctors will typically develop a treatment plan with people who have NSCLC depending on their health, age, and other relevant factors. Some common forms of NSCLC treatment include:

Doctors may combine these treatments to maximize their effectiveness. This will involve undergoing multiple treatments at once or back-to-back treatments, or both.

For example, doctors may use a therapy to treat cancer in one part of the body and another therapy to treat where it is spreading.

Doctors typically describe the outlook for people with cancer using the percentage of people alive at least 5 years after their diagnosis. This is the 5-year survival rate. They may further break down 5-year survival rates according to specific NSCLC diagnoses.

According to the American Cancer Society, the 5-year survival rate for people with NSCLC are:

NSCLC is a common form of lung cancer in the United States. Gene therapy for people with NSCLC is a promising new treatment that targets specific genes that contribute to disease progression. There is evidence that gene therapy can slow the growth of tumors in people with NSCLC.

Gene therapy is new, but has the potential to change the way doctors can treat cancer. Scientists and doctors must first overcome limitations, including finding reliable methods to deliver gene therapy.

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BridgeBio Pharma and LianBio Announce First Patient Treated in Phase 2a Trial of Infigratinib in Patients with Gastric Cancer and Other Advanced Solid…

Posted: August 31, 2021 at 2:18 am

PALO ALTO, Calif. & SHANGHAI & PRINCETON, N.J.--(BUSINESS WIRE)--LianBio, a biotechnology company dedicated to bringing paradigm-shifting medicines to patients in China and other major Asian markets, and BridgeBio Pharma, Inc. (Nasdaq: BBIO) today announced the first patient has been treated in a Phase 2a clinical trial of infigratinib in patients with locally advanced or metastatic gastric cancer or gastroesophageal junction adenocarcinoma with fibroblast growth factor receptor-2 (FGFR2) gene amplification and other advanced solid tumors with FGFR genomic alterations.

Infigratinib is a potent and selective FGFR inhibitor that has demonstrated compelling clinical activity across multiple tumor types with FGFR alterations, said Yizhe Wang, Ph.D., chief executive officer of LianBio. Given the disproportionately high prevalence rate of gastric cancer in China, LianBio is pursuing a region-specific development strategy focused on this area of great unmet need. This study marks LianBios first trial initiation and demonstrates our continued progress in delivering potentially transformational medicines to patients in Asia.

TRUSELTIQ (infigratinib) is an oral selective inhibitor of FGFR1-3 that is approved in the United States for the treatment of patients with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a FGFR2 fusion or other rearrangement as detected by an FDA-approved test. It is also being further evaluated in clinical trials based on demonstration of clinical activity in patients with advanced urothelial carcinoma with FGFR3 genomic alterations. LianBio in-licensed rights from BridgeBio for infigratinib for development and commercialization in Mainland China, Hong Kong and Macau.

The Phase 2a trial is a multicenter, open-label, single-arm study in China designed to evaluate the safety and efficacy of infigratinib in patients with locally advanced or metastatic gastric cancer or gastroesophageal junction adenocarcinoma with FGFR2 gene amplification and other advanced solid tumors with FGFR alterations. The primary endpoint is objective response rate (ORR). Secondary endpoints include duration of response, safety, disease control rate, progression-free survival and overall survival.

Preclinical data have demonstrated the potential infigratinib may have for patients with gastric cancer. These results, published in Cancer Discovery, demonstrated tumor regression in multiple in vivo FGFR2 amplified gastric models.1

We believe that infigratinib could have a meaningful impact for people living with gastric cancer as well as many other cancers with FGFR alterations, and are pleased LianBio is initiating this clinical trial in China where more therapeutic options are needed to match the growing diagnosis rate, said BridgeBio founder and chief executive officer Neil Kumar, Ph.D. On the heels of TRUSELTIQ recently obtaining accelerated approval in the United States, we are hopeful that this trial will yield pivotal results in another subset of cancer patients as we continue to build our portfolio of oncology indications with the aim of reaching as many people in need as possible.

About TRUSELTIQ (infigratinib)

TRUSELTIQ (infigratinib) is an orally administered, ATP-competitive, tyrosine kinase inhibitor of fibroblast growth factor receptor (FGFR) that received accelerated approval from the FDA in the United States for the treatment of adults with previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with a fibroblast growth factor receptor 2 (FGFR2) fusion or other rearrangement as detected by an FDA-approved test. TRUSELTIQ targets the FGFR protein, blocking downstream activity. In clinical studies, TRUSELTIQ demonstrated a clinically meaningful rate of tumor shrinkage (overall response rate) and duration of response. TRUSELTIQ is not FDA-approved for any other indication in the United States and is not approved for use by any other health authority, including any Chinese or other Asian health authority. It is currently being evaluated in clinical studies for first-line cholangiocarcinoma, urothelial carcinoma (bladder cancer), locally advanced or metastatic gastric cancer or gastroesophageal junction adenocarcinoma, and other advanced solid tumors with FGFR genomic alterations.

About BridgeBio Pharma, Inc.

BridgeBio is a biopharmaceutical company founded to discover, create, test and deliver transformative medicines to treat patients who suffer from genetic diseases and cancers with clear genetic drivers. BridgeBios pipeline of over 30 development programs ranges from early science to advanced clinical trials and its commercial organization is focused on delivering the companys first two approved therapies. BridgeBio was founded in 2015 and its team of experienced drug discoverers, developers and innovators are committed to applying advances in genetic medicine to help patients as quickly as possible. For more information visit bridgebio.com.

About LianBio

LianBios mission is to catalyze the development and accelerate availability of paradigm-shifting medicines to patients in China and other major Asian markets, through partnerships that provide access to innovative therapeutic discoveries with a strong scientific basis and compelling clinical data. LianBio collaborates with world-class partners across a diverse array of therapeutic and geographic areas to build out a broad and clinically validated pipeline with the potential to impact patients with unmet medical needs. For more information, please visit http://www.lianbio.com.

About the LianBio and BridgeBio Pharma, Inc. Strategic Alliance

In August 2020, LianBio entered into a strategic alliance with BridgeBio, a commercial-stage biopharmaceutical company focused on genetic diseases and cancers with clear genetic drivers, to develop and commercialize BridgeBios programs in China and other major Asian markets. This strategic relationship initially focuses on two of BridgeBios targeted oncology drug candidates: FGFR inhibitor infigratinib, for the treatment of FGFR-driven tumors, and SHP2 inhibitor BBP-398, in development for tumors driven by MAPK pathway mutations. The agreement also provides LianBio with preferential future access in China and certain other major Asian markets to more than 20 drug development candidates currently owned or controlled by BridgeBio. This collaboration is designed to advance and accelerate BridgeBios programs in China and other major Asian markets, allowing BridgeBio and LianBio to potentially bring innovation to large numbers of patients with high unmet need.

BridgeBio Pharma, Inc. Forward-Looking Statements

This press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the Securities Act), and Section 21E of the Securities Exchange Act of 1934, as amended (the Exchange Act), which are usually identified by the use of words such as anticipates, believes, estimates, expects, intends, may, plans, projects, seeks, should, will, and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act, and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements, including statements relating to: the timing and success of the Phase 2a clinical trial of infigratinib in patients with locally advanced or metastatic gastric cancer or gastroesophageal junction adenocarcinoma with fibroblast growth factor receptor-2 (FGFR2) gene amplification, and other advanced solid tumors with FGFR genomic alterations; the planned approval of infigratinib by foreign regulatory authorities in China and the necessary clinical trial results, and timing and completion of regulatory submissions related thereto; and the competitive environment and clinical and therapeutic potential of infigratinib; reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a variety of risks and factors that are beyond our control including, without limitation: the safety, tolerability and efficacy profile of infigratinib observed to date may change adversely in ex-U.S. clinical trials, ongoing analyses of trial data or subsequent to commercialization; foreign regulatory agencies may not agree with our regulatory approval strategies, components of our filings, such as clinical trial designs, conduct and methodologies, or the sufficiency of data submitted; the continuing success of the BridgeBio and LianBio strategic alliance; and potential adverse impacts due to the global COVID-19 pandemic such as delays in regulatory review, manufacturing and clinical trials, supply chain interruptions, adverse effects on healthcare systems and disruption of the global economy; as well as those set forth in the Risk Factors section of BridgeBio Pharma, Inc.s most recent Annual Report on Form 10-K filed with the U.S. Securities and Exchange Commission (SEC) and in subsequent SEC filings, which are available on the SECs website at http://www.sec.gov. Except as required by law, each of BridgeBio and QED disclaims any intention or responsibility for updating or revising any forward-looking statements contained in this press release in the event of new information, future developments or otherwise. Moreover, BridgeBio and QED operate in a very competitive environment in which new risks emerge from time to time. These forward-looking statements are based on each of BridgeBios and QEDs current expectations, and speak only as of the date hereof.

1 Guagnano, V., Kauffman, A., Wrle, S., et al. FGFR Genetic Alterations Predict for Sensitivity to NVP-BGJ398, a Selective Pan-FGFR Inhibitor. Cancer Discovery 2 (2012): 1118-1133.

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How tall will I be? A guide for parents and children – Medical News Today

Posted: August 31, 2021 at 2:18 am

The height of a childs biological parents can be a good indicator of how tall a child will be, as genetics play a prominent role in determining height. However, this can vary, and siblings with the same parents may all reach different heights. Other factors, such as biological sex, overall health, nutrition, sleep, and exercise, during developmental years all factor into height and growth.

The height a person reaches by adulthood can depend on the genes they inherit from their biological parents, although some factors may mean a child does not reach their full potential height.

Nutrition and overall health during childhood and adolescence also affect human growth and height. Over hundreds of years, the average human height has increased due to improved nourishment in children and a reduction in illness and infections.

This article explores methods people may use to predict height, factors that affect growth in children and adolescents, and when to speak with a doctor if growth becomes a concern.

A combination of genetics and external factors can affect how tall a child will grow.

Health experts believe that 80% of a persons height is genetic. This means the height of biological parents can be an indicator of a childs height, although this is not always a reliable predictor.

Siblings with the same parents can vary in height, and one child in the family may be taller or shorter compared to the rest of the family.

Other factors, such as nutrition, illness, or premature birth, can also play a part in height and growth and may prevent a child from reaching their full potential height.

Learn more about which factors can influence a persons height.

According to Johns Hopkins Medicine, people may wish to try the following formula for predicting how tall a child will be:

However, note that predictive methods such as these are not concrete, and a childs adult height could change depending on different factors.

Learn how to measure height accurately.

According to the Society for Endocrinology, people can usually expect the following average growth patterns in children and adolescents:

Learn about the signs and stages of puberty.

Most females will have a growth spurt in the year before they start their first menstrual period. Their feet and hands will likely increase in size first, followed by the rest of the body.

Female growth slows down after their first menstrual period, but females will usually still grow 12 in after this time.

According to health experts, males usually have a growth spurt in puberty 2 years after most females. The peak time of growth is before sperm develops, and males will grow about 9 cm a year. Males also usually have longer growth spurts than females.

According to the Society for Endocrinology, there is no set age for when males and females will stop growing. Once a person has gone through all the stages of puberty to reach adult development, their growth will slow down and stop.

Additionally, growth plates in the bones fuse together at this stage, meaning individuals will not grow any taller.

Learn about when male children might stop growing.

Learn about when female children might stop growing.

Adolescents go through puberty at different stages, so variations in growth spurts can be normal. In some cases, going through puberty at a slower rate can be due to an inherited pattern, known as constitutional delay.

If there is too much variation, such as a growth spurt not occurring or females not menstruating by the age of 16 years, then it is important to speak with a doctor for a checkup.

In some cases, unusual growth or development in a young person may be the result of an underlying medical condition, such as:

Treating the underlying condition may help improve growth. In the case of a growth hormone deficiency, people may need treatment with artificial growth hormone.

Although genetics largely determine a persons height, proper nutrition is an important factor in healthy growth and development for children and adolescents.

According to the Academy of Nutrition and Dietetics, a balanced and nutritious diet for healthy growth and development includes:

According to a 2018 study, both exercise and good sleep can help increase height, as they elevate the release of growth hormones.

Sometimes, children or adolescents may face peer pressure or bullying for being a different height than those around them. This can lead to feelings of inadequacy, anxiety, or depression.

The American Academy of Child and Adolescent Psychiatry provides the following advice for parents and caregivers to help young people deal with peer pressure:

Learn more about teen anxiety and depression.

How tall a child or teenager will grow largely depends on the genes they inherit from their biological parents.

Good nutrition, exercise, and sleep also all play an important role in healthy growth and development. Illness, infection, or premature birth may all affect whether a child reaches their potential full height or not.

In most cases, young people will not be able to have much impact on their height other than living a healthy and balanced lifestyle. In some cases, children or adolescents may have a deficiency in growth hormone, which may require medical treatment to resolve.

If a child or adolescent is not growing or developing as expected for their age and biological sex, misses a growth spurt, or females do not have their first period by 16 years, then individuals can consult with their doctor for a checkup.

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Bionano Genomics Announces ESHG Lineup Featuring 11 Customer Presentations of OGM Data Spanning Three Major Clinical Research Areas of Application…

Posted: August 31, 2021 at 2:17 am

SAN DIEGO, Aug. 26, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) today announced the European Society of Human Genetics (ESHG) conference lineup featuring 11 customer presentations of optical genome mapping (OGM) data spanning three major clinical areas of application from 10 institutions and six countries. The clinical application areas represented below cover hematological malignancies, inherited genetic disorders and solid tumor analysis. The presentations are expected to cover the clinical utility of OGM across these application areas, along with the unique capabilities of Bionanos Saphyr system to detect all classes of structural variants, across the genome, at a superior resolution relative to traditional techniques. The ESHG conference is being held virtually starting this Saturday from August 28 - 31, 2021.

More than 3,400 participants are registered for this years ESHG meeting, which provides a platform for the dissemination of the most exciting advancements in the field of human genetics. The upcoming customer presentations featuring OGM data are listed below along with the associated clinical areas of application:

OGM Application Area

Presenter

Affiliation

Presentation/Poster Title

Hematological Malignancies

Dr. Anna Puiggros

Hospital del Mar, Barcelona, Spain

Analysis of genomic complexity in patients with chronic lymphocytic leukemia (CLL) using optical genome mapping

Dr. Jonathan L. Lhmann

Hannover Medical School, Hannover, Germany

The clinical utility of optical genome mapping for the assessment of genomic aberrations in acute lymphoblastic leukemia

Inherited Genetic Disorders

Dr. Caroline Schluth-Bolard

Universite Hospital de Lyon, France

What is the best solution to manage failures of chromosomal structural variations detection by short-read strategy?

Dr. Kornelia Neveling

Radboud University Medical Centre, Netherlands

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Dr. Valrie Race

Univ. Hosp. of Leuven, Leuven, Belgium

Bionano optical genome mapping and southern blot analysis for FSHD detection

Dr. Romain Nicolle

Hospital Necker-Enfants Malades, Paris, France

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by Bionano optical genome mapping and WGS

Dr. Jenny Schiller

MVZ Martinsried, Martinsried, Germany

Characterization of breakpoint regions of apparently balanced translocations by optical genome mapping

Dr. Viola Alesi

Bambino Ges Children's Hospital, Rome, Italy,

Optical Genome Mapping: where molecular techniques give up

Dr. Valeria Orlando

Bambino Ges Children's Hospital, Rome, Italy

Optical genome mapping: a cytogenetic revolution

Solid Tumor Analysis

Dr. Florentine Scharf

Medical Genetics Center Munich, Germany

Germline chromothripsis of the APC locus in a patient with adenomatous polyposis

Dr. Mariangela Sabatella

Princess Maxima Center for Pediatric Oncology, Utrecht, Netherlands

Optical Genome Mapping Identifies Germline Retrotransportation Insertion in SMARCB1 in Two Siblings with Atypical Teratoid Rhabdoid Tumor

We believe our progress in Europe, with the increased awareness of OGM and the development of the market there, has been outstanding, commented Erik Holmlin, PhD, CEO of Bionano Genomics. Thanks to key sites like Radboud, Leuven and Cochin, the OGM footprint has now expanded in Germany, Spain and Italy. With the growing installed base of Saphyr in Europe, we have seen these institutions and their research teams conduct ground-breaking research to help demonstrate the potential utility of OGM as an alternative to traditional cytogenetics methods for the identification of genome structural variations that can be more sensitive, give a faster time to results and be less expensive to implement when compared to traditional methods. We believe the momentum of research that has been building will continue as more supporting data, like the data that we expect the researchers to show this week at ESHG, are released from around the world.

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For more details and to register for this online event please go to https://vmx.m-anage.com/home/release/eshg2021/en-GB

About Bionano Genomics

Bionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano provides genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit http://www.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the timing, content and significance of the presentations identified in this press release; our assessments regarding our progress in the European market, including our expectations with respect to the continued adoption of OGM throughout Europe; the benefits of OGM relative to traditional cytogenetic testing methods and its potential to replace traditional cytogenetic methods; our assessments regarding current and future research by the institutions identified in this press release; and the execution of Bionanos strategy. Each of these forward-looking statements involves risks and uncertainties. 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 risks and uncertainties associated with: potential inaccuracies in presentations given at the ESHG Conference or subsequently published data that may minimize the impact of OGM in human genetics; the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations and Media Contact:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

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Investing in the Power of Pathology and Genomics – Tufts Now

Posted: August 31, 2021 at 2:17 am

A $2 million grant from the Mass Life Sciences Center has helped launch the Comparative Pathology and Genomics Shared Resource at Cummings School of Veterinary Medicine, a shared resource with state-of-the-art equipment that fills newly renovated laboratory space. For Cheryl London, a veterinary oncologist and Associate Dean for Research and Graduate Education, it represents a long-time vision becoming reality.

Understanding the pathology of infectious diseases is more critical than ever, said London, who added that the resource will lead to improvements in the treatment and prevention of diseases in humans through detailed genetic characterization of model systems and the associated pathology across species.

London tapped two Cummings School faculty members to lead the effort: assistant professorAmanda Martinot, a veterinary pathologistwho focuses on infectious diseases such as SARS CoV-2 and tuberculosis, and assistant research professor Heather Gardner, GBS20, a veterinary oncologist and geneticist.

Cummings School has been investing in this goal for quite some time. In 2020, the 7,500-square-foot Peabody Pavilion was renovated into modern, flexible lab space designed to support multidisciplinary teams. In addition, the resource will leverage Tufts resources such as the New England Regional Biosafety Laboratory (RBL).

When fully operational, this resource will offer advanced capacities for credentialling and analyzing animal models of disease that will help to grow collaborative opportunities among regional academic and industry entities; provide training opportunities for students, fellows, scientists and clinicians; and ultimately support job growth through expansion of the research enterprise in Central Massachusetts, said London.

Martinots research has focused on tuberculosis (TB). When the Martinot Lab and her collaboratorsCummings School associate professor Gillian Beamer, Tufts University School of Medicineassociate professor Bree Aldridge, and Harvard University professor Peter Sorger, head of the Harvard Program in Therapeutic Sciencesidentified some rare lung biopsies and archived lung specimens from tuberculosis patients that were taken during autopsies many years ago, Martinot thought they were a natural pilot project for the Comparative Pathology and Genomics Shared Resource.

We're trying to understand the biology of tuberculosis in human tissue, what helps the body clear TB, and what fuels TB progression, said Martinot. We use a lot of animal models to try to understand these processes, but there's no animal model that perfectly mimics human TB disease.

The resources new technology can extract meaningful genetic information from the immune cells surrounding and within granulomas, a hallmark pathologic feature of tuberculosissomething they haven't been able to do before. This technology also will allow them to obtain similar information from a variety of pathology samples.

Another pilot project aims to advance research by London and Gardner in canine osteosarcoma, an aggressive bone cancer that affects more than 25,000 dogs each year. In 2019, they published findingsof a study that detailed the landscape of genetic mutations in canine osteosarcoma, and more recently completed a clinical trial to test a new immunotherapy treatment on dogs diagnosed with this type of cancer. TheClinical Trials Officeat Cummings School has treated a number of canine osteosarcoma patients, allowing banking of associated biologic samples for further investigation. With these tissue samples, investigators can ask questions about the molecular and genomic features of cancer over time and identify clinical and pathologic correlates.

Animals get a lot of the same diseases that people do, and the information we learn from animals with these diseases can inform investigation of novel research opportunities across species, said Gardner.

We can start to interrogate the combination of pathology with genetics and follow how the cancer is mutating, Martinot said. And we can look at where these cancer cells live to try to understand how the microenvironment might be supporting the progression of the cancer. That information could lead to potential treatment options.

Paul Mathew, anoncologist at Tufts Medical Center and an associate professor at Tufts School of Medicine, is interested in using the resources technology to ask similar questions about prostate cancer using biopsies from human patients. He wants to understand the tumor and how the microenvironment changes over time in prostate cancer patients. The School of Medicineis one of many potential users of the resourceothers include UMass Medical School and Medical Center, which has plans for a new Veterans Administration outpatient clinic and Institute for Human Genetics.

The resource is home to cutting edge new technology that integrates pathology and genomics, said Martinot. With the help of this grant, we can do whole genome sequencing for genetic analysis of pathogens, tumors, and anything imaginable where the DNA sequence might make a difference.

The goal is to help drive discovery, adds Gardner. We have equipment to support next generation sequencing projects, such as a liquid handler robot to help automate sample processing and an Illumina sequencer. We also have a suite of NanoString equipment, which is a platform that will allow increased use of samples historically considered difficult to work with, including formalin-fixed samples, which are often very degraded.

The new technology that will power this effort falls into two main categories:

Everyone involved with the shared resource is excited about its future potential and the opportunity to see it grow. As Gardner said, The opportunities to impact research, in all areas, are limited by the investigators imagination.

Angela Nelson can be reached atangela.nelson@tufts.edu.

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Humans are more than just a bag of genes – Commentary Box Sports

Posted: August 31, 2021 at 2:17 am

I still see myself sitting on a mattress on the floor of my Amsterdam floor. That was in June 1994, and the book had been published ten years earlier under the title Normal Not in Our Genes: Biology, Ideology, and Human Nature. I read it cover to cover and eagerly took notes.

The authors Richard Leontin, Stephen Rose, and Leon Kamen spoke plain language against biological reductionism, particularly against the then-dominant sociobiology, which explained human behavior from nature. In the book, they dissected a plethora of studies showing crime, intelligence, differences between racial or socioeconomic groups, and of course, gender differences as a result of our brains and genes.

Leontin and colleagues saw a link between the widespread acceptance of social biology and the dominant ideology of the time: neoliberal economic policies combined with an emphasis on conservative and traditional norms and values. Only when social movements (from the arms race to anti-racism, for a better environment, liberation or for the right to work) gained power, mobilization power and vision, was biology adopted to show social groups their natural place. After all, society becomes noticeably less flexible if the social system is fixed in our nature, in our genes.

Evolutionary biologist and geneticist Richard Lewontin, who died last July at the age of 92, has spent his life resisting biological reduction, both in popular science and science publications.

in his book Biology as an ideology. DNA Doctrine (1991), translated into Dutch as From the DNA doctrine, it targets the discourse of the Human Genome Project.

The genetic map has also been referred to as the book of life or the blueprint of life.

As I described two months ago, the Human Genome Project produced the first genetic map of humans, which has proven incredibly important to the life sciences today. It has been described as a major science project to capture the scale, political power, and billions of dollars involved.

The speech Leontin turned against was not kind. To reinforce the projects importance and sell the idea to politicians and policy makers, the scholars have compared their mission to The Search for the Holy Grail. The genetic map has also been referred to as the book of life or the blueprint of life. One of the geneticists involved, Walter Gilbert, took the lead and thought he could finally answer the philosophical question about who we are using a genetic map. Your genetic code on CD, that was his idea. At conferences, Gilbert photographed the promise of this genetic map by repeatedly pulling a CD out of his jacket and presenting it to his audience with the words: Heres a human being; thats me!

The discourse of the Human Genome Project differs from that of sociobiology. Sociobiology focused on social groups with the goal of identifying and explaining social problems in biological terms. The Human Genome Project focuses on the individual: fully in line with the zeitgeist of the neoliberal age, the individual must obey the adage know thyself. And because, according to this logic, this individual is nothing more than a bag of genes, knowing yourself is nothing more than knowing your genes. This reductive and simplistic representation is what Leontin continued to fight.

A prominent geneticist, Richard Leontine was a founder and pioneer of evolutionary and population genetics. He caused a stir in the 1960s with research showing that he and colleague John Hobby showed that genes vary widely and that gene mutations are not rare but rather standard. Mutations are not rare and should be selected quickly because they may lead to disease or other abnormalities. Nothing is normal, the rest is an aberration. The species has much greater genetic diversity than expected.

Richard Leontine was passionate and spent his life tackling misrepresentations and misrepresentations in science.

Leontins most groundbreaking research was the genetic diversity between people. Lewantin argued that while any two people can be genetically different from each other, it becomes more complex when it comes to the difference between groups of people. His research from 1972 showed that differences within groups are much greater (85 percent) than differences between groups (15 percent). These results have since become a standard science. But Leontine also struck a nail in the coffin of ethnic approaches. Because if the differences between groups are smaller than those within groups, then there is no genetic basis for the concept of race.

For Richard Leontine, science was a social act. Science represents reality, we need knowledge to diagnose cancer, for example. But science at the same time is an intervention in this reality, contributing to our vision of who we are and how we relate to each other.

Leontine was passionate and spent his life fomenting misrepresentations in the sciences. There is no controversy or controversy within genetics as Leontin was not a major voice. Thus it served as a guide in my scientific development.

When I started researching forensic DNA evidence, it also turned out that he played an important role in this. In a debate about the uniqueness of the DNA profile and the opportunity to incriminate the wrong person, his knowledge of genetic variation within and between populations has contributed to setting standards for reliable consistent calculations.

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In 1997, she helped organize the International Conference on Molecular Biology and Evolution organized by the Svante Pbo Laboratory. I was working on my PhD research in his lab at the time. During lunch, I got to know the famous geneticist Leonten because I wanted to ask him some questions about the forensic DNA evidence. He spontaneously offered to skip the conference session after lunch to continue our conversation.

Leontin was known as the smartest and fastest. He spoke several languages fluently and played the clarinet daily. As a scientist, he was also politically involved and spoke about climate, social and economic inequalities, racism and sexism.While examining in depth the work of his fellow scholars, he was known to be very generous to students and emerging scholars. A fellow scientific sociologist received a handwritten note from him at her new appointment at Harvard, where he himself was working, inviting her to come and get acquainted. He knew the difficult world she was entering.

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What Is the Most Important Scientific Development of the Last 50 Years? – Gizmodo Australia

Posted: August 31, 2021 at 2:17 am

There are people who argue, persuasively, that Hollywood films are worse than they used to be. Or that novels have turned inward, away from the form-breaking gestures of decades past. In fact, almost anything can be slotted into a narrative of decline the planet, most obviously, but also (per our former president) toilets and refrigerators. One of the few arenas immune to this criticism is science: I doubt there are very many people nostalgic for the days before the theory of relativity or the invention of penicillin. Over the centuries, science has just kept racking up the wins. But which of these wins limiting ourselves to the last half-century mattered most? What is the most important scientific development of the last 50 years? For this weeks Giz Asks, we reached out to a number of experts to find out.

Research Assistant, Social Sciences, Humboldt University of Berlin

A bit more than 50 years ago, but I would say the most influential were the related developments of the Journal Impact Factor and the Science Citation Index (precursor of todays Web of Science) by Eugene Garfield and Irving H. Sher between 1955 and 1961.

These developments laid the groundwork for current regimes of governance and evaluation in academia. Their influence on the structure of science as we know it can hardly be overestimated: Today, it is difficult to imagine any funding, hiring, or publication decision that does not draw in some way either directly on the JIF or data from the Web of Science, or at least on some other form of quantitative assessment and/or large-scale literature database. Additionally, the way we engage with academic literature and hence how we learn about and build on research results has also fundamentally been shaped by those databases.

As such, they influence which other scientific developments were made possible in the last 50 years. Some groundbreaking discoveries might have only been possible under this regime of evaluation of the JIF and the SCI, because those projects might not have been funded under a different regime but also, its possible that we missed out on some amazing developments because they did not (promise to) perform well in terms of quantitative assessment and were discarded early on. Current debates also highlight the perverse and negative effects of quantitative evaluation regimes that place such a premium on publications: goal displacement, gaming of metrics, and increased pressure to publish for early career researchers, to name just a few. So while those two developments are extremely influential, they are neither the only nor necessarily the best possible option for academic governance.

Professor, History of Science, Stanford University, whose research focuses on 20th century science, technology, and medicine

That would surely be the discovery and proof of global warming. Of course, pieces of that puzzle were figured out more than a century ago: John Tyndall in the 1850s, for example, showed that certain gases trap rays from the sun, keeping our atmosphere in the toasty zone. Svante Arrhenius in 1896 then showed that a hypothetical doubling of CO2, one of the main greenhouse gases, would cause a predictable amount of warming which for him, in Sweden, was a good thing.

It wasnt until the late 1950s, however, that we had good measurements of the rate at which carbon was entering our air. A chemist by the name of Charles Keeling set up a monitoring station atop the Mauna Loa volcano in Hawaii, and soon thereafter noticed a steady annual increase of atmospheric CO2. Keelings first measurements showed 315 parts per million and growing, at about 1.3 parts per million per year. Edward Teller, father of the H-bomb, in 1959 warned oil elites about a future of melting ice caps and Manhattan under water, and in 1979 the secret sect of scientists known as the Jasons confirmed the severity of the warming we could expect. A global scientific consensus on the reality of warming was achieved in 1990, when the Intergovernmental Panel on Climate Change produced its first report.

Today we live with atmospheric CO2 in excess of 420 parts per million, a number that is still surging every year. Ice core and sea sediment studies have shown that we now have more carbon in our air than at any time in the last 4 million years: the last time CO2 was this high, most of Florida was underwater and 24.38 m sharks with 8-inch teeth roamed the oceans.

Coincident with this proof of warming has been the recognition that the history of the earth is a history of upheaval. Weve learned that every few million years Africa rams up against Europe at the Straits of Gibraltar, causing the Mediterranean to desiccate which is why there are canyons under every river feeding that sea. We know that the bursting of great glacial lakes created the Scablands of eastern Washington State, but also the channel that now divides France from Great Britain. We know that the moon was formed when a Mars-sized planet crashed into the earth and that the dinosaurs were killed by an Everest-sized meteor that slammed into the Yucatan some 66 million years ago, pulverizing billions of tons of rock and strewing iridium all over the globe. All of these things have been only recently proven. Science-wise, we are living an era of neo-geocatastrophism.

Two things are different about our current climate crisis, however.

First is the fact that humans are driving the disaster. The burning of fossil fuels is a crime against all life on earth, or at least those parts we care most about. Pine bark beetles now overwinter without freezing, giving rise to yellowed trees of death. Coral reefs dissolve, as the oceans acidify. Biodisasters will multiply as storms rip ever harder, and climate fires burn hotter and for longer. Organisms large and small will migrate to escape the heat, with unknown consequences. The paradox is that all these maladies are entirely preventable: we cannot predict the next gamma-ray burst or solar storm, but we certainly know enough to fix the current climate crisis.

The second novelty is the killer, however. For unlike death-dealing asteroids or gamma rays, there is a cabal of conniving corporations laboring to ensure the continued burning of fossil fuels. Compliant governments are co-conspirators in this crime against the planet along with think tanks like the American Petroleum Institute and a dozen-odd other bill-to-shill institutes. This makes the climate crisis different from most previous catastrophes or epidemics. It is as if the malaria mosquito had lobbyists in Congress, or Covid had an army of attorneys. Welcome to the Anthropocene, the Pyrocene, the Age of Agnotology!

So forget the past fifty years: the discovery of this slow boil from oil could well become the most important scientific discovery in all of human history. What else even comes close?

Professor and Chair, History of Science, The University of Oklahoma

Id say the best candidate is the set of ideas and techniques associated with sequencing genes and mapping genomes.

As with most revolutionary developments in science, the genetic sequencing and mapping revolution wasnt launched by a singular discovery; rather, a cluster of new ideas, tools, and techniques, all related to manipulating and mapping genetic material, emerged around the same time. These new ideas, tools, and techniques supported each other, enabling a cascade of continuing invention and discovery, laying the groundwork for feats such as the mapping of the human genome and the development of the CRISPR technique for genetic manipulation.

Probably the most important of these foundational developments were those associated with recombinant DNA (which allow one to experiment with specific fragments of DNA), with PCR (the polymerase chain reaction, used to duplicate sections of DNA precisely, and in quantity), and with gene sequencing (used to determine the sequences of base pairs in a section of DNA, and thus to identify genes and locate them relative to one another).

While each of these depended upon earlier ideas and techniques, they all took marked steps forward in the 1970s, laying the foundation for rapid growth in the ability to manipulate genetic material and to map genes within the larger genomes of individual organisms. The Human Genome Project, which officially ran from 1990-2003, invested enormous resources into this enterprise, spurring startling growth in the speed and accuracy of gene sequencing.

The ramifications of this cluster of developments, both intellectual and practical, have been enormous. One the practical side, the use of DNA evidence in criminal investigation (or in exonerating the wrongly convicted), is now routine, and the potential for precise, real-time genomic identification (and surveillance) is being realised at a startling pace. While gene therapies are still in their infancy, the potential they offer is tantalising, and genomic medicine is growing rapidly.

Pharmaceutical companies now request DNA samples from individual experimental subjects in clinical trials in order to correlate drug efficacy with aspects of their genomes. And, perhaps most important of all, the public health aspects of gene sequencing and mapping are stunning: the genome of the SARS-2 Coronavirus that causes Covid-19 was sequenced by the end of February 2020, within weeks of the realisation that it could pose a serious public health threat, and whole-genome analysis of virus samples from around the world, over time, have enabled public health experts to map its spread and the emergence of variants in ways that would have been unthinkable even a decade ago.

The unique aspects of the virus that make it so infectious were identified with startling speed, and work on an entirely new mode of vaccine development began, leading to the development, testing, and mass production of a new class of vaccines (mRNA vaccines) of remarkable efficacy, in unbelievably short time less than a year from identification of the virus to approval and wide use. It is hard to overstate how amazing this novel form of vaccine development has been, and how large its potential is for future vaccines.

On the intellectual/cultural side, the collection of techniques for manipulating and mapping genetic material is challenging longstanding ideas about what is natural and about what makes us human. Organic, living things now can be plausibly described as technologies, and thats an unsettling thing. Aspects of our individual biological identities that once were givens are increasingly becoming choices, with implications we are just beginning to see.

In addition, these same techniques are being deployed to reconstruct our understanding of evolutionary history, including our own evolution and dispersal across the globe, and perhaps nothing is more significant than changing how we understand ourselves and our history.

Professor, Science and Technology Studies, University College London, who researches the history of modern science and technology

My answer would be PCR Polymerase Chain Reaction. Invented by Kary Mullis at the Cetus Corporation in California in 1985, its as important to modern genetics and molecular biology as the triode and the transistor to modern electronics. Indeed it has the same role: its an amplifier. DNA can be multiplied. Its a DNA photocopier.

Without it, especially once automated, much modern genetics would be extremely time-consuming, laborious handcraft, insanely expensive, and many of its applications would not be feasible. It enables sequencing and genetic fingerprinting, and we have it to thank for COVID tests and vaccine development. Plus, you can turn it into a fantastic song by adapting the lyrics to Sleaford Mods TCR. Singalong now: P! C! R! Polymerase! Chain! Reaction!

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