Category Archives: Genetic Medicine

Image credit: Walter Waymann via Pixabay.

Londons annual Festival of Genomicsconference brings together a diverse crowd of attendees with a common mission: to deliver the benefits of genomics to people faster.

Genomics is an extremely powerful discipline that is fundamental to understanding and treating diseases like cancer and it is rapidly evolving.

It differs from genetics in studying full genomes in humans, all of the DNA held in our chromosomes rather than only the genes, which code the proteins which make up our bodies but only give part of the picture of what our DNA does.

Genomic data has the potential to inform screening, diagnostics and personalised treatment making it possible to predict and treat cancer more precisely than ever before.

In a recent blog post, we talked about genomic medicine as one of the three key areas with the potential to transform cancer care for the better in the next decade and the talks given at the Festival of Genomics definitely back this claim.

Professor Dame Sue Hill giving keynote speech.

Professor Dame Sue Hill, Chief Scientific Officer for NHS England, kicked off the festival by introducing the national genomic infrastructure in England, including the NHS Genomics Medicine Serviceand its plan to implement a Genomic Future' over the next ten years.

The NHS aims to make genomics a routine part of healthcare. Thanks to better technologies allowing scientists to determine peoples entire genetic make-up quickly and cheaply, this is already becoming a reality. As Professor Dame Sue Hill told the audience, the NHS has witnessed a tripling of investment in genomics as a consequence.

So, what are the benefits of routinely offering genomic testing?

Genomic sequencing essentially provides us with an extraordinary set of information that enables us to understand the uniqueness, medically speaking, of each patient and, for cancer patients, their tumour.

Cancer cells develop their own genomic alterations that drive their growth and spread: gaining understanding of cancer genomes can lead to early diagnosis and preventive measures, and it can help doctors identify a more tailored, personalised treatment.

To date, more than 107,000 genomes have been sequenced in the UK research environment, including over 33,000 cancer genomes meaning that the genetic blueprints of all of these genomes have been decoded.

This has provided us with a vast amount of genomic data which, as well as helping match patients to the best gene-targeted treatments available, could also inform the next wave of drug development and biomarker discovery.

Large-scale genomic sequencing projects such as the 100,000 Genomes Projecthave generated a vast amount of information but what good is this if we cant make sense out of it? Meaningful analysis is key and using machine learning and AI algorithms, we can start spotting trends in the data.

The ICRs Dr Anguraj Sadanandam our team leader in Systems and Precision Cancer Medicine gave a talk at the Festival about his work, in which he uses genomic data to pick out subgroups of patients who might respond differently to treatment.

People who seemingly have the same cancer type often respond very differently to drugs. By using genomic data and machine learning algorithms, Dr Sadanandams team aims to accurately predict who will respond well to particular treatments, and who will face harmful side-effects after being treated.

Last year, Dr Sadanandam and his team used machine learning approaches to uncover five new sub-types of breast cancer, each matched to different personalised treatments.

By making sense of the genomic data and developing new machine learning approaches to stratify patients, Dr Sadanandam and his team hope to open up new possibilities for treatment in cancers that currently lack effective options.

We are now poised to outsmart cancer with the worlds first anti-evolution 'Darwinian' drug discovery programme, in which we will focus on understanding, anticipating and overcoming cancer evolution, and preventing drug resistance.

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Genomic data can also be used to assess a persons risk of developing cancer. The ICRs Professor Clare Turnbull gave a talk discussing her teams effort to identify cancer susceptibility genes and understand how these can cause disease.

A study led by Professor Turnbull in 2018, for instance, showed that a mixed set of common, single-letter changes to the DNA code each of which only slightly increase a mans risk of testicular cancer together play the biggest role in causing the disease.

Discoveries like this one can help with counselling people who might be worried about their risk of developing cancer, and could help inform future screening programmes.

In this way, genomics can help pick out people at high risk, to who we can offer interventions to lessen that risk. However, as Professor Turnbull concluded, estimating, acting on and communicating cancer risks is highly complex, and the field has a way to go yet.

So, as we have seen, genomics is a powerful tool with a tremendous potential to revolutionise cancer care but until now has largely been used within a research context.

It is now crucial that clinicians and the public start getting ready for the routine use of genomics in the clinic, which comes with a number of psychological and communication challenges as well issues around consent, since people want to know what their genomic data is being used for.

At the conference, the ICRs Professor Richard Houlston, who is Head of our Division of Genetics and Epidemiology, talked about the challenges that must be considered before we start sequencing patients genomes in routine cancer care. One of such issues is the return of secondary findings.

Secondary findings also known as incidental findings are results that provide information about genetic changes unrelated to the initial purpose for testing. The problem with secondary findings is that they may lead to additional stress for patients and their families.

Lets say Mary gets her genome sequenced because she wants to find out if she is a BRCAmutation carrier. The doctors find out she doesnt have a BRCA mutation, but instead they discover she has a genetic change that will result in her, almost certainly, developing early-onset Alzheimer's disease. There is nothing Mary can do to avoid this.

How should we communicate and make decisions about secondary findings? Should we communicate them at all? This is an active area of discussion but what is clear is that by offering genomic counselling, we can help people understand, adapt and adjust to the medical and psychosocial consequences of any type of genomic finding.

In this way, the information gathered can help people understand how their genomic information might affect their lives, as well as their treatment options.

In a recent editorial published in Psycho-Oncology, the ICRs Professor Ros Eeles provides an overview of genomic testing in oncology and discusses the potential and impact of genetic and genomic counselling, amongst other topics.

At the ICR, Professor Ros Eeles is also leading the 90S study the first study in the UK to assess whether whole-genome sequencing can be used to screen for a range of genes linked to disease or response to medicines in a primary care setting.

If successful, the initiative could be a key step towards much more routine use of genetic testing to predict and manage patients future health in the NHS.

Ultimately, researchers, healthcare teams and patients will have to work together to implement genomic medicine.

Healthcare teams will need to involve patients in dialogues around consent, diagnosis, prognosis and treatment.

At the ICR, scientists and clinicians are already working together to gather genomic data and accelerate vital translational research which is key to bring genomic discoveries into the clinic.

In this way, we will finally move away from one size fits all cancer therapies and towards a more successful, personalised way of treating cancer.

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Science Talk - How genomics is transforming cancer treatment - The Institute of Cancer Research

BETHESDA, Md., March 2, 2020 /PRNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine and genetics professionals from around the world will be on hand Friday, March 20th from 10:30 11:00 AM in the Henry B. Gonzlez Convention Center in San Antonio, Texas to present bicycles to local San Antonio-area children from the Sickle Cell Association of Texas Marc Thomas Foundation and the Down Syndrome Association of South Texas as part of the 2020 ACMG Annual Clinical Genetics Meeting.

The annual ACMG Foundation Day of Caring is sponsored by the ACMG Foundation for Genetic and Genomic Medicine, a prominent national nonprofit genetics foundation based in Bethesda, Maryland.

DeAnna Navarro, administrator and community health worker with the Sickle Cell Association of Texas Marc Thomas Foundation, said, "Our hearts are filled with gratitude by the thoughtfulness of the ACMG Foundation. We are genuinely grateful to have been selected to partner in the 2020 Day of Caring! The customized bicycles will provide ideal activity for children affected by sickle cell disease that is low-impact and therapeutic. We are excited that this gesture will help to bring a sense of normalcy to their lives."

Nicole Galindo, development manager at Down Syndrome Association of South Texas (DSASTX), said, "We are so grateful and ecstatic to be participating in ACMG's Day of Caring this year. The DSASTX is beyond thankful to have been chosen to receive these awesome bicycles for some of our awesome families. Having a bike that is custom fitted to each child provides such fun, gets them outdoors and can be seen as a confidence booster."

"We all look forward to the Day of Caring event as a way to express our respect for patients and families who deal with genetic conditions every day. We are grateful to our sponsors and to our members for making this event possible," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The ACMG Foundation for Genetic and Genomic Medicine, whose theme is Better Health through Genetics, supports education, research and a variety of other programs to translate genetic research into better health for all individuals. The ACMG Foundation 2020 Day of Caring is supported by PerkinElmer, members of the American College of Medical Genetics and Genomics (ACMG), and the ACMG Foundation for Genetic and Genomic Medicine.

Note to assignment desks, news desks and editors: This is a wonderful photo, television and video opportunity. To arrange interviews with experts in medical genetics, local San Antonio-area families participating in the 2020 Day of Caring or to receive a complimentary pass to attend and cover the ACMG Annual Clinical Genetics Meeting, March 17-21, 2020 at the Henry B. Gonzlez Convention Center, contact Kathy Moran, MBA, ACMG senior director of public relations, at kmoran@acmg.net.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics (ACMG) mission to "translate genes into health." Through its work, the ACMG Foundation fosters charitable giving, promotes training opportunities to attract future medical geneticists and genetic counselors to the field, shares information about medical genetics and genomics, and sponsors important research. To learn more and support the ACMG Foundation mission to create "Better Health through Genetics" visit http://www.acmgfoundation.org.

Kathy Moran, MBAkmoran@acmg.net

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Leading National Genetics Foundation to Present Adapted Bikes to San Antonio-Area Children with Genetic Conditions - Herald-Mail Media

MANHATTAN BEACH, Calif. and HOLLISTON, Mass., March 2, 2020 /PRNewswire/ -- The Pancreatic Cancer Action Network(PanCAN) and Perthera, Inc., announced a pivotal paper published todayin Lancet Oncology highlighting the importance of selecting treatments based on pancreatic cancer patients' tumor mutations. This is the first study to demonstrate an overall survival benefit from precision medicine in pancreatic cancer patients.

The study analyzed more than 1,000 pancreatic cancer patients enrolled in PanCAN's Know Your Tumorprecision medicine service, powered by Perthera, and found those patients who received matched therapies following molecular profiling of their tumor, using the Perthera Platform, saw an overall survival benefit of one year longer than those who did not.

Pancreatic cancer is the world's toughest cancer with an overall five-year survival rate of just 10 percent. It is currently the third leading cause of cancer-related death in the U.S., underscoring the urgent need for new treatment options and research discoveries in this space.

When PanCAN's Know Your Tumor service was started with Perthera in 2014, key precision medicine resources such as molecular profiling were rarely offered to patients with pancreatic cancer because many doctors assumed there wasn't anything actionable to be found. The study showed that approximately 25 percent of pancreatic cancer patients have an "actionable alteration." It also underscores the significance of the most recent National Comprehensive Cancer Network (NCCN) guidelines that state that every patient with pancreatic cancer should get testing both molecular profiling of their tumor and germline (genetic) testing for alterations they were born with.

"The results of this study will help re-write the future for cancer patients for years to come," said Gary Gregory, CEO & President, Perthera, Inc. "Increasing patient survival is the cornerstone of the work that PanCAN has spearheaded with Perthera across the U.S. This study clearly proves that, by utilizing precisely matched therapies provided by molecular profiling, along with Therapeutic Intelligence and a Molecular Tumor Board, patients with pancreatic cancer have experienced significant increases in both overall and progression-free survival."

"This is critical news for pancreatic cancer patients. Every tumor is different and through this study, we know that patients who get tested and receive treatment based on their tumor's biological characteristics are living longer," said Lynn Matrisian, PhD, MBA, Chief Science Officer at PanCAN and an author on the paper. "It is a strong reminder to healthcare professionals to offer tumor profiling to all their pancreatic cancer patients. And it will further provide an incentive to the scientific community to pursue new targeted treatments for even more pancreatic cancer patients."

Several of the molecularly-matched therapies given have now been FDA approved for patients with pancreatic cancer based on select biomarkers. Adopting molecular profiling into routine practice will be critically important to making sure these patients do not miss out on life-extending opportunities that can now be covered by insurance. "These real-world outcomes suggest that the adoption of a precision medicine platform can have a substantial impact on survival in patients with pancreatic cancer, and that molecularly-guided treatments targeting oncogenic drivers and the DNA damage repair pathway warrant further prospective evaluation," said Mike Pishvaian, MD, PhD, Perthera's Chief Medical Officer GI Medical Oncology, University of Texas, MD Anderson Cancer Center, Johns Hopkins Medicine.

PanCAN recommends that all pancreatic cancer patients undergo testing of both their tumor tissue (molecular profiling) and blood or saliva for genetic (germline) changes to determine if they have an "actionable alteration" and to identify treatment options for that patient. Patients can enroll in PanCAN's free Know Your Tumor precision medicine service today, as well as receive free, in-depth, and personalized resources and information on the disease through PanCAN's Patient Central.

The Perthera Platform has been proven to capitalize upon "actionable alterations" and improve patient outcomes across numerous, peer reviewed clinical publications. The Perthera Platform, which has been used by over 250 cancer treatment sites across the U.S., captures a patient's entire medical and treatment history, as well as their multi-omic molecular profile, to create a personalized treatment plan, that enable physicians to effectively harness the power of precision medicine.

About Perthera, Inc.Perthera is the leading Therapeutic Intelligence Company advancing precision Cancer Care through its Precision Oncology Platform. Our innovative technology precisely matches cancer patients with ranked therapeutic options and has been utilized by over 10% of US Oncologists across 250+ healthcare sites. We have developed a turnkey, Precision Oncology Platform with an AI-driven Therapeutic Intelligence Engine, which has been clinically proven to extend overall and progression-free survival rates by over two-fold for cancer patients. Perthera positions Hospitals and Physicians to deliver Best-In-Class Cancer Care to improve patient outcomes and save lives. The Perthera Platform also offers a highly comprehensive Precision Cancer database and an array of services which delivers significant value to BioPharma (Pharma, BioTech, Drug Development, and Clinical Research Organizations).

To find out more about the Perthera's Precision Oncology Platform, offered for no charge to treating physicians across the US, go to http://www.Perthera.com. Follow Perthera on Twitter, LinkedIn, and Facebook.

About the Pancreatic Cancer Action NetworkThe Pancreatic Cancer Action Network (PanCAN) is dedicated to fighting the world's toughest cancer. In our urgent mission to save lives, we attack pancreatic cancer on all fronts: research, clinical initiatives, patient services and advocacy. Our effort is amplified by a nationwide network of grassroots support. We are determined to improve outcomes for today's patients and those diagnosed in the future.

Learn more at pancan.org. Follow the Pancreatic Cancer Action Network onTwitter,Instagram, andFacebook.

Media Contacts:Jillian ScholtenPancreatic Cancer Action NetworkDirect: +1-310-706-3360 | E-mail: jscholten@pancan.org

Gary GregoryPerthera, Inc.Direct: +1-508-397-8885 | E-mail: ggregory@perthera.com

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New Research Reveals Pancreatic Cancer Patients Who Receive Precision Medicine Live An Average Of One Year Longer Than Those Who Do Not - Monterey...

This month in Insights & Outcomes, Yale scientists take a deep dive into thermodynamics, discover a new drug to treat seizures, and unify the algebra of everything.

As always, be sure to keep tabs on the latest research news in the Science & Technology and Health & Medicine pages on YaleNews. For now, grab your lab coat and lets go:

Its long been understood that you can eliminate wasted energy in a thermodynamic change from a cars speed to the biological processes in a cell as long as the change occurs slowly enough. But theres a limit to this, according to assistant professor of physics Benjamin Machta and graduate student Samuel Bryant.

In a new study, they report that all controlled thermodynamic changes must consume a minimum amount of energy, regardless of speed. Previous analyses have missed an important, but easily overlooked point, Bryant said. The control mechanism responsible for changing the object under consideration must necessarily waste some energy. Machta and Bryant said their work is particularly relevant for biology, where processes such as the release of calcium in muscles, do seem to be paying substantial costs in energy. The study appears in Proceedings of the National Academy of Sciences.

The prognosis for people suffering from chronic epilepsy is often poor, even after surgery and with anti-seizure medication. Now a Yale team has found that an experimental drug which targets a protein linked to two genetic disorders associated with intractable epilepsy reduces seizures and cell abnormalities in mouse models of the conditions. This is a completely new treatment with unexpected benefits, said Yales Angelique Bordey, professor of neurosurgery and of cellular and molecular physiology and senior author of the research.

Bordey and first author Longbo Zhang said they hope the drug that targets the protein FLNA might help reduce seizures in those with epilepsy as well as two genetic disorders, tuberous sclerosis complex and focal cortical dysplasia type II, which is found in a subset of patients. The study appears in Science Translational Medicine.

A study led by Yale emergency medicine assistant professor Edouard Coupet II, M.D., found that the Affordable Care Act (ACA) is not associated with a change in opioid overdoses (ODs). The researchers found no link between expansion of insurance for young adults under the ACA (via extended dependent coverage) and any fatal prescription, non-prescription opioids such as heroin, or methadone overdoses, nor emergency department encounters. Such a link had been suggested by advocates of ACA repeal. Researchers compared a group that was eligible before the ACA passed to a group that became eligible after ACA passed.

Coupet, a National Institute on Drug Abuse-sponsored Yale Drug Use, Addiction, and HIV Scholar, said the findings underscore the importance of increased insurance coverage in providing mental health and addiction services to vulnerable populations. Around the time when young adults are seeing a lot of behavioral health issues manifest, including substance use disorders, expanding access to providers allows them to pursue addiction treatment, he said. The study appears in the Journal of General Internal Medicine.

For more than a century, classical mechanics and quantum mechanics have been thought to be very different. Peter Morgan, a laboratory associate in physics, now argues that they can be unified. In a new study, Morgan takes an algebraic approach to demonstrating that classical and quantum mechanics are equally capable of modeling measurements and analyzing measurement results. A more precise understanding of their relationship, Morgan said, enables a unification of collapse and no-collapse interpretations of quantum mechanics. This recognition provides for new approaches to the unification of general relativity, which is essentially classical, and the standard model of particle physics, which is essentially quantum, he said. The study appears in Annals of Physics.

Researchers at Yale and the University of Michigan found, to their surprise, that people do not report bias toward emergency room physicians based on gender or race. The study enrolled 3,592 participants from across the U.S. and asked them to imagine that they had been admitted to the ER for stomach pain. Participants were presented with a physicians image a white man, white woman, black man, or black woman and two conflicting diagnoses, a conservative one established by the physician, and a more aggressive one (appendicitis) that the participant self-diagnosed using a web-based source. Researchers asked a series of questions related to confidence in the diagnosis and treatment plan. They found no loss of confidence or satisfaction in physicians based on race or gender.

These results have different implications for different groups. The results are positive from an organizational and policy standpoint, and make a strong case for continuing to build a diverse and inclusive physician workforce, said Basmah Safdar, M.D., associate professor of emergency medicine, who specializes in sex and gender-specific research. Safdar said the findings do not invalidate the many negative personal experiences women and black physicians experience due to patient bias. The study appears in JAMA Network Open.

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Insights & Outcomes: Thermodynamics and the algebra of everything - Yale News

-- The Company will award up to 20 academic scholarships to individuals diagnosed with Duchenne muscular dystrophy --

CAMBRIDGE, Mass., Feb. 27, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (SRPT), the leader in precision genetic medicine for rare diseases, today announced that the website for Route 79, The Duchenne Scholarship Program, is officially open and accepting applications. Academic scholarships of up to $5,000 will be awarded to up to 20 individuals chosen by an independent committee of Duchenne community members based on an applicants community involvement, personal essay and recommendation letter. The Route 79 program is designed to help students with Duchenne pursue their post-secondary educational goals.

Since launching Route 79, The Duchenne Scholarship Program, two years ago, Sarepta has granted a total of 33 scholarships. In 2019 alone scholarship recipients hailed from 10 different states, representing 19 different academic institutions, pursing degrees in the humanities, science and technology, hospitality management, journalism, and business, among others. Its with great pride that we offer this scholarship for the third consecutive year as a way to recognize and help bright, hard-working individuals with Duchenne continue their educational pursuits, said Diane Berry, Sareptas Senior Vice President of Global Health Policy, Government and Patient Affairs.

The underlying cause of Duchenne is a mutation or error in the gene coding for dystrophin. Dystrophin is an essential protein that plays a pivotal role in muscle structure, function and preservation. The numerical significance of the scholarships name, Route 79, ties to the 79 exons of the dystrophin gene.

To apply for a scholarship through the Route 79 program, applicants must be accepted to or enrolled in an accredited college or university or a trade, technical or vocational school located in the United States and be diagnosed with Duchenne muscular dystrophy. College seniors or college graduates accepted to or enrolled in graduate school are also eligible to apply. Previous recipients of Route 79, The Duchenne Scholarship are eligible to apply for the 2020 Scholarship Program. Acceptance into previous years of the Scholarship Program will have no bearing on 2020 applications. No consideration will be given to whether an applicant was previously, is currently, or expects to be in the future, undergoing treatment with a Sarepta product or investigational product.

Applications will be accepted until April 15, 2020, at 11:59 PM PT. Recipients will be notified in June and awards will be distributed prior to August in time for fall 2020 enrollment. Students may apply by clicking here.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis Type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of Information

We routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan, 617-274-4052iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

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Sarepta Therapeutics Announces Third Year of Route 79, The Duchenne Scholarship Program - Yahoo Finance

For tens of millions of people, a Monday morning without coffee is unthinkable. Keurig machines and cappuccinos are staples in offices and workplaces all over the world, and just the smell of a freshly brewed pot of coffee is enough to shake many from their bedsheets. On a purely scientific level, though, coffee really shouldnt be all that popular. After all, its taste is objectively bitter, and bitterness has served as an evolutionary warning to the human body of harmful substances since mankinds existence.

So, why then do so many people crave a cup of coffee in the morning? It turns out you may have never had a choice in the matter; some people are genetically predisposed to quickly develop a taste for some java.

An individuals sensitivity to bitterness is linked to their genetics. In other words, some people are more sensitive to the bitter taste of coffee than others. Surprisingly, according to a study conducted at Northwestern University, its those individuals who actually end up visiting Starbucks more often.

Youd expect that people who are particularly sensitive to the bitter taste of caffeine would drink less coffee, comments senior author Marilyn Cornelis, assistant professor of preventive medicine at Northwestern University Feinberg School of Medicine, in a press release. The opposite results of our study suggest coffee consumers acquire a taste or an ability to detect caffeine due to the learned positive reinforcement (i.e. stimulation) elicited by caffeine.

Essentially, its that heightened bitter taste that allows many people to quickly develop positive associations with the taste of coffee. The more sensitive we are to coffees bitter taste, the faster our bodies pick up on the fact that drinking some coffee will result in some extra pep in our step.

These findings represent a rather humorous evolutionary role reversal. Our bodies developed varying levels of bitter sensitivity to protect us from poisonous foods hundreds of thousands of years ago. Today, that same sensitivity promotes coffee consumption and cravings.

Its not just coffee either. Genetic differences in taste sensitivity probably influence our tea and alcohol preferences as well, the studys authors say.

For instance, it was noted that within the studied population sample, participants who enjoyed the bitter taste of coffee and drank it frequently also largely stayed away from tea. Still, professor Cornelis speculates this observation may just be due to those people being too busy drinking coffee to make time for tea.

Of course, there are different types of bitterness, and some people are more sensitive to certain variations. Researchers found that individuals sensitive to the bitter flavors of quinine (found in tonic water) and PROP (similar in taste to kale, brussels sprouts) actually tended to avoid coffee. Moreover, individuals sensitive to the taste of PROP also drank less alcohol, especially red wine.

The findings suggest our perception of bitter tastes, informed by our genetics, contributes to the preference for coffee, tea, and alcohol, Cornelis adds.

Over 400,000 men and women from the United Kingdom were analyzed for this study, so it was hardly a small initiative in scope. Researchers used Mendelian randomization, a complex scientific technique usually used to track the onset and distribution of diseases, to assess the relationship between participants bitter sensitivity and subsequent coffee drinking habits. The specific genetic variants linked specifically to caffeine and coffee perception were originally discovered via extensive genome-wide analysis of Australian twins.

Taste has been studied for a long time, but we dont know the full mechanics of it, Cornelis concludes. Taste is one of the senses. We want to understand it from a biological standpoint.

These findings are no doubt fascinating on a purely topical level, but besides their conversational potential, they are also a stark reminder of human adaptability. What acted as a survival helper thousands of years ago is still serving a purpose today, albeit one that may end up leading to some extra money spent on that second shot of espresso.

The full study can be found here, published in Scientific Reports.

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This is why you enjoy the bitter taste of coffee, according to science - Ladders