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Category Archives: Gene Medicine

Your hatred of heart-healthy veggies could be genetic – KPLR 11 St. Louis

If certain vegetables have always made you gag, you may be more than a picky eater. Instead, you might be what scientists call a super-taster: a person with a genetic predisposition to taste food differently.

Unfortunately, being a super-taster doesnt make everything taste better. In fact, it can do the opposite.

Super-tasters are extremely sensitive to bitterness, a common characteristic of many dark green, leafy veggies such as broccoli, cauliflower, cabbage and Brussels sprouts, to name a few.

The person who has that genetic propensity gets more of the sulfur flavor of, say, Brussels sprouts, especially if theyve been overcooked, said University of Connecticut professor Valerie Duffy, an expert in the study of food taste, preference and consumption.

So that [bitter] vegetable is disliked, and because people generalize, soon all vegetables are disliked, Duffy said. If you ask people, Do you like vegetables? They dont usually say, Oh yeah, I dont like this, but I like these others. People tend to either like vegetables or not.

In fact, people with the bitter gene are 2.6 times more likely to eat fewer vegetables than people who do not have that gene, according to a new study presented Monday at the annual meeting of the American Heart Association.

We wanted to know if genetics affected the ability of people who need to eat heart-healthy foods from eating them, said study author Jennifer Smith, a registered nurse who is a postdoc in cardiovascular science at the University of Kentucky School of Medicine.

While we didnt see results in gene type for sodium, sugar or saturated fat, we did see a difference in vegetables, Smith said, adding that people with the gene tasted a ruin-your-day level of bitterness.

Our sense of taste relies on much more than a gene or two. Receptors on our taste buds are primed to respond to five basic flavors: salty, sweet, sour, bitter and umami, which is a savory flavor created by an amino acid called glutamate (think of mushrooms, soy sauce, broth and aged cheeses).

But its also smelling through the mouth and the touch, texture and temperature of the food, Duffy said. Its very difficult to separate out taste from the rest. So when any of us say the food tastes good, its a composite sensation that were reacting to.

Even our saliva can enter the mix, creating unique ways to experience food.

When we come to the table, we dont perceive the food flavor or the taste of food equally, Duffy said. Some people live in a pastel food world versus others who might live in a more vibrant, neon food world. It could explain some of the differences in our food preference.

While there are more than 25 different taste receptors in our mouth, one in particular has been highly researched: the TAS2R38, which has two variants called AVI and PAV.

About 50% of us inherit one of each, and while we can taste bitter and sweet, we are not especially sensitive to bitter foods.

Another 25% of us are called non-tasters because we received two copies of AVI. Non-tasters arent at all sensitive to bitterness; in fact food might actually be perceived as a bit sweeter.

The last 25% of us have two copies of PAV, which creates the extreme sensitivity to the bitterness some plants develop to keep animals from eating them.

When it comes to bitterness in the veggie family, the worst offenders tend to be cruciferous vegetables, such as broccoli, kale, bok choy, arugula, watercress, collards and cauliflower.

Thats too bad, because they are also full of fiber, low in calories and are nutrient powerhouses. Theyre packed with vitamins A and C and whats called phytonutrients, which are compounds that may help to lower inflammation.

Rejecting cruciferous or any type of vegetable is a problem for the growing waistline and health of America.

As we age as a population, vegetables are very important for helping us maintain our weight, providing all those wonderful nutrients to help us maintain our immune system and lower inflammation to prevent cancer, heart disease and more, Duffy said.

Food scientists are trying to develop ways to reduce the bitterness in veggies, in the hopes we can keep another generation of super-tasters from rejecting vegetables.

Theres been some success. In fact, the Brussels sprouts we eat today are much sweeter than those our parents or grandparents ate. Dutch growers in the 90s searched their seed archives for older, less bitter varieties, then cross-pollinated them with todays higher yielding varieties.

People who already reject vegetables might try to use various cooking methods that can mask the bitter taste.

Just because somebody carries the two copies of the bitter gene doesnt mean that they cant enjoy vegetables, Duffy said. Cooking techniques such as adding a little fat, a little bit of sweetness, strong flavors like garlic or roasting them in the oven, which brings out natural sweetness, can all enhance the overall flavor or taste of the vegetable and block the bitterness.

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With the help of Chan Zuckerberg Initiative, U of T researchers develop data tools to accelerate science – News@UofT

Which genetic changes predispose to disease? How do characters in a novel relate to each other? Which wine and cheese go well together?

Turns out, theres an app for that and its about to become far more versatile as University of Toronto researchers work to release it to a wider community with the support of the Chan Zuckerberg Initiative.

CalledCytoscape, the software in question is already an essential tool for viewing networks in biology, including gene networks that hold clues about how different genes co-operate to sustain health and how these networks change in disease. But like most research software, its currently a desktop application that has to be installed and updated, and doesnt work on phones or tablets.

Today, the Chan Zuckerberg Initiative announced it is providingU of TsGary BaderandHannesRst, both researchers at the Donnelly Centre for Cellular and Biomolecular Research, with US$150,000 each to create a cloud-based Cytoscape and Open MS.Co-founded by Facebook chief executive Mark Zuckerberg and his spouse, Priscilla Chan, the initiative seeks to harness technology to accelerate progress in science.

The future of data analytics should be that it is easier to do, easier to share information and it should be easier for people to collaborate, says Bader, a professor of computational biology who is cross-appointed to the department of molecular genetics in the Faculty of Medicine and the department of computer science in the Faculty of Arts & Science, andholds the Ontario Research Chair in Biomarkers of Disease.

Just as web-based cloud computing has transformed how we listen to music and store data, Bader, whose team is developing the web-based Cytoscape Explorer, says that freedom fromhaving to keep track of files and e-mail them back and forth will boost creativity and speed up science.

Because your document lives on the cloud, the latest version is already there, and you can access it anytime, anywhere. It makes it easier to see what everyone else is doing and youre exposed to more ideas that changes the way you do things in a positive way.

Initially designed for genomics researchers, Cytoscape incorporates the basic principles of network theory and can be easily adapted for other applications. Besides biology, it has been used in business, social studies and marketing, as well as mapping how characters in an epic science fiction novel relate to each other.

We are building the foundation for other people to do research,saysHannesRst,an assistant professor of computational biology at the Donnelly Centre(photo by Jovana Drinjakovic)

Bader even adapted the softwareto find optimal wine and cheese combinations for a dinner party.

Research analytics have been slow to move to the cloud because it is difficult to obtain funding purely for software development unless it promises to reveal new insights. Yet cloud analytics are desperately needed to support increasingly collaborative research often involving teams scattered around the world.

We are building the foundation for other people to do research, says Rst, an assistant professor of computational biology who is also cross-appointed to the departments of molecular genetics and computerscience, and whose team is developingOpenMS, a free tool for biomarker analysis.

With more than one million downloads since launching in 2001, Cytoscapes popularity is only likely to grow with the move to the cloud.

We really think that making this available on the web will allow users who never previously discovered the software, and never used it on the desktop, to easily access it, says Bader, who joined the Cytoscape team in the early 2000s and is leading the newly funded project with Dexter Pratt, a software engineer in the group of Trey Ideker, a professor at the University of California, San Diego, and a co-founder of Cytoscape.

If scientists knew what healthy looked like at the molecular level, they might be able to spot disease as it begins to develop and potentially halt it.

Molecular profiling of human tissue blood, for example produces vast amounts of complex data calling for sophisticated analysis tools such as OpenMS, a leading free software for the analysis of data produced by mass spectrometry, which identifies and counts molecules based on their unique mass-to-charge ratio.

Composed of a set of algorithms that can be rearranged into different workflows, Open MS can be tailored to individual user data. Butin its current form, it requires a certain level of coding knowledge, discouraging uptake among users without programming experience.

The cloud version will have no such obstacles.

We want to make OpenMS user-friendly, using a graphic user interface where users can click on buttons to start their analysis instead of typing commands on the command line, says Rst, who holds the Canada Research Chair in Mass Spectrometry-based Personalized Medicine.

Programming-savvy users will be able to inspect and modify the source code to their needs.

To set up OpenMS on the cloud, Rst will take advantage of so-called Docker containers, which are sets of code that enable standardized software packaging so that it runs the same way on any platform.

The software will be hosted on Niagara, a supercomputer cluster at U of T and part of ComputeCanada, the high-performance computing infrastructure established by the federal government.

The overarching goal of Rsts research is to identify early biomarkers of diabetes and cancer.

We want to take peoplesbody fluids and generate a metabolic profile that we can track over time how people change, he says.

His team recently acquired a state-of-the-art mass spectrometry instrument worth $1 million, with support from the Canada Foundation for Innovation and U of Ts Faculty of Medicine. The instrument, referred to among lab members as the space ship for its futuristic look, can detect trace amounts of biomolecules for more accurate profiling.

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MaxQ AI Partners with Arterys to Further Expand Global Access to the Company’s Innovative Intracranial Hemorrhage (ICH) Detection Solutions – BioSpace

Radiologists and care providers around the world will have access to MaxQ AIs ACCIPIO ICH and Stroke Platform through Arterys cloud-native medical imaging platform.

Tel Aviv, Israel and San Francisco, CA November 13, 2019 MaxQ AI, the industry-leading medical diagnostic AI company, today announced a new partnership agreement with Arterys, the leader in web-based, AI-powered medical image analysis platform. As part of the agreement, MaxQ AIs ACCIPIO ICH and Stroke Platform, which utilizes deep learning technologies to analyze medical imaging data such as non-contrast head CT images, will be available on the Arterys Marketplace. An internet-based medical imaging AI platform for radiology, care providers will have easy access to both MaxQ AIs FDA Cleared and CE Approved Accipio Ix and Accipio Ax intracranial hemorrhage (ICH) detection software through the Arterys Marketplace along with future solutions in development for investigational use.

The Arterys Marketplace further expands access to our extensive suite of AI-powered solutions to radiologists through a user-friendly and collaborative platform, said Gene Saragnese, CEO of MaxQ AI. This collaboration will help meet the growing demand for AI-powered diagnostic solutions that augment radiologists in acute care settings worldwide. Our Accipio ICH detection solutions for stroke, TBI, and head trauma hold great promise for healthcare through significant quality, clinical, and economic advancement in supporting care providers to make the correct minutes matter call.

MaxQ AIs ACCIPIO ICH and Stroke Platform provide deep clinical insight and actionable data in minutes that will enable physicians across the world to make faster assessments of stroke, traumatic brain injury, and head trauma in any location, at any time. Accipio Ix enables automatic identification and prioritization of non-contrast head CT images with suspected ICH. Accipio Ax provides automatic slice-level annotation of suspected ICH. Both Accipio Ix and Ax are FDA Cleared and CE Approved. The Accipio platform is comprised of Class II and Class III medical devices with significant clinical evidence.

The Arterys Marketplace provides radiologists with high-performance medical imaging viewing, AI-based analysis for interpretation, and collaborative case sharing all through a web browser. The Marketplace also enables AI software developers and innovators to seamlessly distribute both FDA-cleared clinical applications and earlier-stage AI innovations (for research use only) to clinical environments. The Marketplace offers clinical applications for the analysis of cardiac MR, lung CT, and chest x-ray images and now non-contrast head CT images due to the partnership with MaxQ AI. Arterys is compliant with patient data privacy regulations and standards, ensuring security in the cloud, and its products are cleared for commercial sale in over 100 countries.

We are excited to have MaxQ AI join the Arterys Marketplace, which was created to expand access to and drive AI-powered innovations in healthcare, said John Axerio-Cilies, Chief Technology Officer & Founder of Arterys. MaxQ AI shares our commitment to advance healthcare for everyone, and its powerful and proven Accipio solutions and algorithms will further expand our offerings to the latest cutting-edge AI-driven solutions that are designed to reduce variability and subjectivity in clinical diagnoses and alleviate the burden of growing workloads faced by radiologists.

MaxQ AI will demonstrate the companys full suite of Accipio solutions during the upcoming Radiological Society of North America (RSNA) 2019 Annual Meeting in Chicago (Booth 8345 in the North Hall). MaxQ AI will be highlighted as an Arterys partner at the Arterys exhibit in the AI Showcase (Booth 10918 in the North Hall Level 2).

About MaxQ AI, Ltd.

MaxQ AI is at the forefront of Medical Diagnostic AI. We are transforming healthcare by empowering physicians to provide smarter care with artificial intelligence (AI) clinical insights. Based in Tel Aviv, Israel and Andover, MA, USA, our team of deep learning and machine vision experts develop innovative software that uses AI to interpret medical images and surrounding patient data. Working with world-class clinical and industry partners, our software enables physicians to make faster, more accurate decisions when diagnosing stroke, traumatic brain injury, and other serious conditions. To learn more, visit http://www.maxq.ai or follow us on Twitter and LinkedIn.

About Arterys, Inc.

Arterys was founded in 2011 to facilitate the global advancement of healthcare and enable insight-driven medicine by leveraging cloud computation and artificial intelligence. Its first major milestone was the first-ever clearance of cloud-based deep learning software for clinical use. Arterys offers a suite of applications for clinicians on the Arterys network via its cloud-based, web-enabled AI medical imaging platform. The Arterys enterprise imaging platform enables use and interaction with deep learning algorithms in real-time, augmenting the clinician workflow, and expediting image interpretation.

The companys mission is to reduce variability and subjectivity in clinical diagnoses and alleviate the enormous workloads radiologists face. With AI, the company is improving the accuracy and consistency in imaging interpretation across practices. Arterys is now leveraging its medical imaging cloud platform to make medical imaging vastly more automated, quantitative and useful. Learn more at https://www.arterys.com/ or follow Arterys on Twitter @ArterysInc and LinkedIn https://www.linkedin.com/company/arterys/.

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Media Contact

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Escaping Alzheimer’s – University of California

There is, in Colombia, a family with the tragic legacy of forgetfulness.

People in this large family get Alzheimers like clockwork at age 45-50, said UC Santa Barbara neuroscientist Kenneth S. Kosik, the campuss Harriman professor of Neuroscience and co-director of the Neuroscience Research Institute. Their aggressive, genetic form of the disease has been passed down from generation to generation, causing rapid cognitive and physical declines in both the men and the women of this family.

For decades, Kosik and colleagues, including Dr. Francisco Lopera of the University of Antioquia; Dr. Eric Reiman of the Banner Alzheimers Institute in Phoenix; clinical neuropsychologist Yakeel Quiroz of Massachusetts General Hospital; and Dr. Joseph Arboleda-Vasquez of Massachusetts Eye and Ear, have been studying this family, from their brains right down to their genes. They have even traced the specific gene mutation of this disease back as far as the time of the Spanish conquistadors.

During their studies the researchers also have witnessed the predictable onset of the disease as members of this family enter into their middle years. Sometimes it happens sooner, sometimes later, but all paths have always led to the same destination.

But one woman has defied the odds. Now in her late 70s, she has the mutant gene and the plaques of amyloid protein that are the hallmark of Alzheimers disease yet she has exhibited no signs of cognitive impairment associated with Alzheimers.

When you find an escapee, its extremely interesting, said Kosik, co-author of a study that appears in the journal Nature Medicine. The woman, and others who are considered outliers in the normal trend of neurodegeneration of this family, may present hints at a new approach for therapy for and even prevention of the disease, he said.

The culprit in this version of Alzheimers is a mutation to the presenilin 1 gene, called E280A, copies of which are found in every member of this family afflicted with the disease. It is implicated in the high production of those sticky amyloid plaques.

The mutation is known to cause the onset of the disease at age 45, and its really flagrant by the time youre in your 50s, Kosik said. The woman, in her late 60s at the time they were conducting their study, was positive for the mutation, but exhibited few symptoms.

It was amazing, Kosik said. In the course of their analysis they found that the woman also had another mutation in another gene that is responsible for making lipoproteins in the central nervous system, a gene called apolipoprotein E or APOE. A variant of this gene called the Christchurch variant is exceedingly rare, but its presence in the patient hinted at a protective mechanism. The researchers turned to the Kosik Labs extensive collection of genomes to look for other family members with this same variant.

They asked us especially to look at people who were also outliers who got it at a very late age, Kosik said. They found a few others who had the variant, he said. Importantly, however, while there were others who did carry the Christchurch mutation, they all carried one copy, inherited from one parent.

The key thing about this discovery is that this patient is homogyzous for the variant; it came from both the mother and the father, Kosik explained. The researchers lab studies showed that the APOE gene variant might delay the onset of Alzheimers by binding to sugars (called heparin sulphate proteoglycans, or HSPG) and preventing the uptake and inclusion of tau proteins in neurons that ultimately lead to the tangles that are a pathological hallmark of the disease. Tau is a common structural protein in the brains of patients with Alzheimers and other neurodegenerative diseases that becomes sticky and insoluble.

More work needs to be done to investigate this single patients resistance to a disease that affects her extended family of 6,000 people, but this promising development could point toward an approach and a therapy for the estimated 44 million people in the world who have Alzheimers, a number that continues to rise.

"This finding suggests that artificially modulating the binding of APOE to HSPG could have potential benefits for the treatment of Alzheimer's disease, even in the context of high levels of amyloid pathology," said the papers co-lead author Joseph F. Arboleda-Velasquez, in a press statement.

For Kosiks part, he and Arboleda-Vasquez (who formerly was Kosiks graduate student at Harvard) continue to probe for other genetic one-offs and outliers that may contribute to Alzheimers resistance.

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Ahead of FDA decision on BTK drug, Amgen-partnered BeiGene is one step closer to China OK for PD-1 – Endpoints News

China is reportedly approving its 6th PD-1(L)1 drug in just over a year and Amgen will be pleased with this one.

The OK for tislelizumab would be the first marketed product to be developed by BeiGene, the eminent Beijing-based biotech that Amgen recently took a $2.7 billion stake in. Chinas Center for Drug Evaluation has completed technical review and sent the NDA to the National Medical Products Administration with a recommendation to approve, Chinese media outlet Jiemian reported.

BeiGene is all set to hit the ground running. Having partnered with Celgene to hawk Revlimid, Abraxane and Vidaza in China, the drugmaker has built a 700-strong commercialization team. The Amgen deal also puts them in charge of selling Xgeva (denosumab), Kyprolis (carfilzomib) and Blincyto (blinatumomab) provided the last two come through after Phase III development.

Following the initial indication of chronic Hodgkins lymphoma, BeiGene has already filed an sNDA to use tislelizumab in urothelial carcinoma.

While Celgene once held rights to the drug outside China, BeiGene regained global rights after its US partner broke off the pact in the wake of a buyout by Bristol-Myers Squibb, the maker of Opdivo.

The fast pace reflects just how rapidly the checkpoint market has evolved in China. Junshi and Innovent scored the first approvals for their homegrown therapies, Tuoyi and Tyvyt, though according to Jiemian its Mercks Keytruda that racked up the most sales: RMB$2 billion ($280 million) since last July. The numbers for Junshis Tuoyi and Innovents Tyvyt are RMB$332 million ($47 million) and RMB$308 million ($43 million), respectively.

Given that competitive some would say commoditized landscape, BeiGene is looking to make a name for itself through zanubrutinib, a BTK inhibitor positioned to challenge the dominance of Imbruvica. The drug is under review at the FDA after nabbing breakthrough status.

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Ahead of FDA decision on BTK drug, Amgen-partnered BeiGene is one step closer to China OK for PD-1 - Endpoints News

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A man from Wales is having his genes altered to fight his blood cancer – Wales Online

A pensioner has become the first patient in Wales to undergo a ground-breaking gene treatment for blood cancer.

CAR-T (chimeric antigen receptor T-cell)therapy, carried out at the University Hospital of Wales (UHW) in Cardiff, involves changing cells in the immune system to recognise and destroy cancer cells.

The success of the therapy has been described as a "significant day for precision medicine in Wales".

John Davies, 71, from Blackwood , was diagnosed with lymphoma five years ago following a routine check-up and was chosen as the first patient to have the treatment.

The retired civil servant, who has had other previous unsuccessful treatment for his lymphoma, underwent a series of stringent tests to ensure his suitability for this treatment.

Blood samples were collected from Mr Davies for six hours. His healthy T-cells were then separated and transported in a special cooling box to Amsterdam where his they will be stored and transported to California for modification.

The engineered cells will then be transported back to Amsterdam and then to UHW to be administered to the patient in a months time.

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Mr Davies said: "After previously failed treatments, I feel lucky to have been offered this opportunity. I feel like a pioneer and if sharing my story can help other people, then I am happy to do it."

CAR-T therapy is described as a "complex yet personalised" immunotherapy based on the individual patient.

The process involves taking healthy T-cells from the patient and engineering them to recognise cancer cells.

They are then reintroduced intravenously into the patient to fight off cancer and restore the normal function of their own immune system.

Our immune system works to protect the body against infection, illness and disease. It can also protect us from the development of cancer.

The immune system includes the lymph glands, spleen and white blood cells. Normally, it can spot and destroy faulty cells in the body, stopping cancer developing.

But a cancer might develop when:

Immunotherapy uses our immune system to fight cancer. Itworks by helping the immune system recognise and attack cancer cells.

Some types of immunotherapy are also called targeted treatments or biological therapies. You might have immunotherapy on its own or with other cancer treatments.

Dr Keith Wilson, lead clinician and consultant haematologist at UHW said: "This is a significant day for precision medicine in Wales. It has taken 18 months of hard work from an incredible team of researchers, clinicians, support staff and partners to make today even possible.

"About 50% of patients will respond positively to CAR-T treatment so the next stage after the engineered cells are reintroduced into the patient will be to monitor their progress closely.

"With each treatment created specifically for the individual patient, its truly a ground-breaking treatment at the forefront of personalised medicine. This is precision medicine at its best."

The treatment was made possible thanks to funding from WHSCC (Welsh Health Specialised Services Committee) through the New Treatment Fund set up by the Welsh Government in 2017.

The aim of the fund is to deliver advanced treatments, such as cell and gene therapies, for patients with chronic and terminal conditions that are resistant to current treatment and medications.

Staff at Velindre University NHS Trust, the Welsh Blood Service, WHSCC and Cardiff and Vale University Health Board's haematology team were all involved in the development.

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A man from Wales is having his genes altered to fight his blood cancer - Wales Online

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