Category Archives: Molecular Medicine

Transcript:

Estelamari Rodriguez, M.D., MPH: The other thing I wanted to highlight is that in the past, EGFR mutations were first described in women who were non-smokers and Asian women. I still feel theres a big bias from physicians who take care of patients with cancer, that if they see patients who are heavy smokers or patients who are older, they may not think of these mutations because theyre attributing them to younger patients. I dont know the age of your husband when he was diagnosed, but I have seen in my practice patients of all ages who present with this diagnosis. To me, the only indication for testing is the diagnosis of lung cancer, not how the patient looks or where the patient comes from, because the smoking history doesnt really determine how these mutations present.

Katina Bland: Absolutely. Youre 100% correct. My husband was 48 years young when he was diagnosed. He was an extremely healthy and fit man; he is an athlete. He was a coach, and just very fit and very careful about what he ate, and maintaining a healthy lifestyle, and he never smoked. There was no reason to indicate that not only would he have potentially cancer, but lung cancer. It was really shocking for us to learn that. There are quite a few other patients who are to this day at this time undiagnosed, or even in some cases misdiagnosed because they dont know what to look for and potentially use the wrong testing to identify exactly what kind of cancer they have. At Exon 20 Group, we try to help patients with that by advocating for them. We get quite a few questions that we field on a regular basis, either calls that we get or emails, regarding if these patients have received the right or the best testing. Its an overwhelming majority of patients weve found who had their tissue tested by NGS [next-generation sequencing] laboratories, which is the right direction they want to be going. You mentioned the Guardant360 test, NeoGenomics, Foundation Medicine, Caris, Tempusthose are several of the laboratories that are doing the correct and accurate testing to get these patients the appropriate sequencing they need to understand, so that they can be successful in battling their cancer.

Estelamari Rodriguez, M.D., MPH:Thank you. I have to say that the role that you play, the patient advocacy groups in education, is critical because I see patients who, when we give them this diagnosis of cancer, go blank. I feel that its a lot of information, and to try to explain genetic sequencing at that stage and retain all that information is overwhelming. I think patients are feeling sick and have an urgency to start treatment. I think thats when caregivers are critical to the team because they may have the resources and the time to seek out this information. Im very excited to hear about the resources that the organization has. I wanted to ask you what kind of challenges you have seen patients report in terms of the testing when they come and ask questions. What kind of challenges have patients described?

Katina Bland: Well, there are a number of challenges. Sometimes they start right at the basic level of, We cant understand this testing report. Can you decode it for us? Can you help us understand what this means? Sometimes that can mean helping the patient to understand a little better the terminology, I suppose just the vernacular in this world that we live in, in fighting cancer. Sometimes it can mean coming alongside the clinician and discussing not necessarily how to read the report, but some ideas and approaches, best practices and standards, making sure theyre aware of clinical trials, making sure that theyre aware of the new drugs that have been approved, and different options that their patients have available to them that they may or may not be aware of.

Estelamari Rodriguez, M.D., MPH: I think that is critical. We need to engage patient advocates, we need to engage caregivers so that we give patients the best tools, and also so that patients can become their own self-advocates. Patients present with symptoms, and we have chemotherapy, and we have immunotherapy, and we know that we can do a disservice to a patient who would do better with a different treatment if we dont look for them. This has been looked at. We always think as doctors, were all doing the right thing, but in the last oncology conference, they presented data from the whole country and community practices and academic centers. Only about half of the patients who start their first treatment for advanced lung cancer have the genetic information at hand when that treatment started. Theres a significant number of patients who may be started on chemotherapy or immunotherapy, and they have molecular drivers that will do better with a targeted therapy. One thing that well talk about is that these treatments, in a way, are different than chemotherapy and immunotherapy. In some ways, they can keep your quality of life longer and they can be easier to tolerate in some ways.

Transcript edited for clarity.

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The Importance of Molecular Profiling and Patient Education in NSCLC - Curetoday.com

SAN DIEGO--(BUSINESS WIRE)--Genome Insight, a global leader in Whole Genome Sequence analysis and interpretation, announced $23 million in Series B funding.

Dunamu & Partners led the financing with participation from InterVest, Signite Partners, KC, and VNTG Corporation, as well as existing investors DSC Investment, Paratus Investment, and Schmidt. The funding will be allocated towards advancing Genome Insights data production and curation pipelines that enable scalable investigation of whole-genome sequences (WGS), the most comprehensive technique for understanding the molecular origin of human diseases. These efforts will bring WGS in real-world clinics for clinicians and patients for next-generation medical practice, in particular, for cancer and rare diseases.

Genome Insight is a start-up company with expertise in the biomedical curation of WGS data. WGS examines the entire genomic sequence of diseased tissues, providing the most comprehensive characterization of tens of thousands of genomic mutations carried on it as a whole. While historically confined as a research tool, due to its massive data size and high cost for data curation, WGS is a leading driver for opening up an ultimate era of personalized medicine with entire genomic information. Making biomedical sense of the vast amount of WGS data at an affordable cost, predictable timeline, and standardized procedure has been the main barrier to the widespread use of WGS.

"With the falling cost of genome data production, we are at the tipping point of a whole-genome based transformation in treating genetically driven illnesses such as cancer and rare diseases. We plan to bring the analysis and interpretation technologies to make whole-genome sequences meaningful, said Young Seok Ju, founder of Genome Insight. We are excited to have as our new investors, not only those in bio-tech but also those in digital-tech. This investment is a clear signal that the field is at the forefront of bio-tech and digital-tech convergence.

Genome Insight was founded in 2020 in South Korea by co-founders Young Seok Ju and Jeong Seok Lee, who are both physician-scientists and professors at KAIST (Korea Advanced Institute of Science and Technology). Earlier this year, the Company announced its incorporation as a US company and is now headquartered in San Diego, at the heart of the genomics hotbed of the west coast.

About Genome Insight

GENOME INSIGHT is a whole genome sequence (WGS) analysis and interpretation company with the goal to accelerate use of WGS for accurate diagnosis and personalized treatment for cancer and rare diseases. Our proprietary GINS platform is an automated WGS pipeline and computer system that can rapidly generate meaningful interpretation insights for clinicians and patients, making WGS data useable in real-life clinical settings. We are also actively engaged in research to promote the power of WGS in advancing novel therapeutic strategies for cancer and rare diseases. Our Company is headquartered in San Diego (US) with the R&D offices in Seoul and Daejeon (Korea). To learn more, please visit http://www.genomeinsight.net.

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Genome Insight Draws $23 Million in Series B Funding to Open the Whole Genome Era for Transforming Precision Medicine - Business Wire

James S. Hagood, MD, professor in the UNC Department of Pediatrics and Director of the Program for Rare and Interstitial Lung Disease of the UNC Childrens Research Institute and Marsico Lung Institute, has been selected as a Harrington Scholar-Innovator for his work on a therapeutic Strategy for pulmonary fibrosis.

James S. Hagood, MD, professor in the UNC Department of Pediatrics and Director of the Program for Rare and Interstitial Lung Disease of the UNC Childrens Research Institute and Marsico Lung Institute, has been awarded a grant from the Harrington Discovery Institute for a research project titled, Thy-1 Mimicry as a Therapeutic Strategy for Pulmonary Fibrosis.

Progressive pulmonary fibrosis (PPF) is an often fatal complication of many acute and chronic lung diseases, including COVID-19, Dr. Hagood explains. Idiopathic pulmonary fibrosis, one of the most common and deadly forms of PPF, progresses to either lung transplantation or death within a few years for most people affected. Existing FDA approved drugs slow the disease process but do not reverse the scarring of the lungs. Many major pharmaceutical companies have identified fibrosis as a priority area for drug development. Work done in our lab over two decades identified the protein Thy-1 as a strong suppressor of fibrotic scarring, by changing the scar-forming potential of fibroblasts, the cells responsible for wound healing. A soluble form of Thy-1 is able to reverse established fibrosis in several laboratory models. Our collaborator, Dr. Ronit Freeman (UNC Applied Physical Sciences) developed molecular mimics for Thy-1 with potent antifibrotic activity, forming the basis for development of new and potentially highly effective fibrosis-reversing therapies for PPF. We will refine and test these in a highly relevant disease in a dish model, in preparation for identifying the ideal version for testing in clinical trials. This approach has high potential to generate therapies that can improve and extend the lives of individuals suffering with PPF.

Harrington Discovery Institute at University Hospitals in Cleveland, Ohio part of The Harrington Project for Discovery & Development was established in 2012 to accelerate the development of new treatments to address major unmet needs in medicine and society. Harrington Scholar-Innovators are accomplished physician-scientists whose research demonstrates innovation, creativity and potential for clinical impact. In addition to grant funding, Harrington provides guidance and oversight in drug development, while intellectual property is retained by the scholar and their institution.

The selected scholars have access to several rounds of capital and have the opportunity to qualify for up to a total of $1.1 million in funding. In addition, scholars have facilitated access to Harringtons mission-aligned commercial entities, Advent-Harrington Impact Fund and BioMotiv, and to its charitable partner Morgan Stanley GIFT Cures.

Read more about the other scholars at the institutes website.

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Hagood Awarded Grant from Harrington Discovery Institute | Newsroom - UNC Health and UNC School of Medicine

When Livia Szeto, B.S.N., RN, OCN, was growing up, she wanted to be a teacher. And as an oncology nurse navigator at University of Chicago Medicine, teaching patients about their disease and upcoming treatment is a large part of her job.

Thats especially true when a patient receives a diagnosis of lung cancer.

Imagine how desperate they can be, she says. Often they feel as though its the end of their world. Perhaps they were feeling normal but developed hip pain and were then told they had lung cancer. Theres a lot of hand-holding, teaching and reassuring that needs to happen.

Originally a clinical trial research nurse, Szeto took on the additional role of oncology navigator six years ago. Although still involved with clinical trials, she also began caring for patients who werent in studies, taking care of them from their very first visit and throughout their cancer journey.

That way the patient doesnt have to interact with so many different nurses, Szeto explains. Theres just one primary nurse taking care of the patient. The navigator role can be pretty complex. Youre not only taking care of the patient but the family as well, helping them find their way through the health care system. They encounter many different specialties and need someone to help them understand them all.

Although her first nine-and-a-half years at University of Chicago Medicine were spent on the inpatient hematology/oncology floor providing direct care for patients, today Szeto isnt involved in much hands-on clinical treatment.

My job is teaching and also coordinating care for patients, making sure their care is coordinated with the right provider, with the right timing for the right services. So although I dont administer chemotherapy, the research coordinator and I do all the coordination for clinical trials, she says.

Along with a physician and midlevel practitioner, Szeto sees patients in the clinic twice a week. Among the 20 or so patients they see each day are those returning for treatment and patients who have received a new diagnosis of lung cancer, some of whom first came to the hospital for a different reason.

Last week, we saw a patient who presented in orthopedics for a fractured bone. One of the surgeons was very keen on lung cancer and scheduled a chest X-ray, which revealed a lung mass. So the patient will be getting a bronchoscopy this week to confirm lung cancer, she says.

Sometimes patients who know they have lung cancer are eager to get started with treatment, only to find they have to wait.

Its hard to tell a patient that you need all these tests first and, no, you wont be starting therapy until the test results these molecular analyses come back, Szeto says. Theyve heard that immunotherapy can often provide good results and want to know why they cant get it immediately. But unless a patient has a specific actionable mutation, giving an immunotherapy drug could be detrimental to the patient. It takes a lot of education to help them understand.

That education extends to informing patients of the realities of treatment.

Regardless of how successful we are with patients and how many therapies we give them, the day will come when the disease starts to progress again, Szeto says. We have to warn them, Therapy is going well, and we dont want to be pessimistic, but one day the therapy will stop working. So we want to let them know that day is coming, but we also do our best to make sure its as far in the future as possible.

Szeto strongly recommends that anyone mulling a nursing career consider oncology, pointing out that the job is not all doom and gloom, largely due to the major strides that have been made in treatment modalities. Its not as pessimistic as it used to be, Szeto says.

Its a very exciting field to be in, she notes. Cancer patients are living a lot longer, so we have the opportunity to follow them for a long, long journey. In a way, cancer has become a chronic disease that can be managed. The beautiful thing is that patients have options that allow them to live with this disease for a long time.

There are so many opportunities to learn and to help others.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

Originally posted here:
Educating Patients Fulfills an Oncology Nurse's Dreams - Curetoday.com

Universiti Kebangsaan Malaysia (UKM) is the first university in the world to lead a large-scale imaging study through dual-energy x-ray absorptiometry (DXA) scans and involving 6,000 participants.

Titled Obesity and non-communicable diseases in Malaysia: An imaging study of 6,000 adults in the Malaysian cohort study, it aims to research obesity and non-communicable diseases which are becoming more prevalent in Malaysia and around the world in partnership with the University of Oxford, United Kingdom.

UKM vice-chancellor Prof Datuk Dr Mohd Ekhwan Toriman said currently, there are no DXA or large-scale MRI imaging studies in Malaysia to directly measure body fat to enable researchers to understand the relationship between body composition and non-communicable diseases such as diabetes and heart disease.

Therefore, he said, the study aims to understand the association of obesity in causing diabetes and heart disease.

Besides that, comparisons between the diversity of ethnic groups in Malaysia and in the UK can also be done, he said, adding that new methods such as DXA and MRI can be used to confirm the conventional instrument body mass index (BMI).

Prof Mohd Ekhwan said this collaboration between UKM and the University of Oxford can have a great impact on Malaysias health system, especially in the development and use of new BMIs that are more suitable for Asians, especially the Malaysian population.

He said the current BMI from the World Health Organization (WHO) is based on the Caucasian population and categorises those with a BMI below 18.5 as underweight, between 18.5 and 25 as normal, between 25 and 30 as overweight, and above 30 as obese.

Therefore, it is important to determine what is the normal range for excess body fat from each ethnic group in Malaysia so that a more accurate range can be introduced, he added.

Using an accurate classification is important for effective intervention to curb the increasing effects of obesity such as Type II diabetes and heart disease, he said.

Prof Mohd Ekhwan also said the project had the potential to enhance industry collaboration, especially in identifying the best treatment methods involving rare diseases specific to obesity such as proopiomelanocortin (POMC) deficiency, leptin receptor (LepR) deficiency, Bardet-Biedl Syndrome (BBS), Alstrom syndrome, and Prader-Willi syndrome.

Throughout the study, UKM Institute of Molecular Medicine (Umbi) will be performing 6,000 DXA imaging and 100 MRI imaging to assess body composition among The Malaysian Cohort (TMC) participants, in collaboration with UKM Faculty of Medicine Department of Radiology and the University of Westminster, UK.

It is jointly led by Prof Sarah Lewington from Nuffield Department of Population Health, University of Oxford, and Umbi Assoc Prof Dr Nor Azian Abdul Murad, with RM994,000 funding from the Higher Education Ministry.

The project is part of Umbis TMC Project, which is similar to the UK Biobank project.

Separately, Universiti Tunku Abdul Rahman (UTAR) has announced the recent setting up of the Nutrigenetics and Nutrigenomics Research and Training Unit (NRTU) at its Sungai Long campus.

UTAR vice president (R&D and Commercialisation) Prof Dr Faidz Abd Rahman said he believes that the Malaysian-UK collaborative project funded by the British Council Malaysia will enable Malaysian researchers and healthcare practitioners to undertake nutrigenetics and nutrigenomics research for disease prevention and treatment.

University of Reading Institute of Food, Nutrition and Health (IFNH) deputy director Prof Vimal Karani S., who presented a talk during the NRTU launch ceremony on Feb 16, said nutrigenetics is the science that studies the effect of genetic variation on dietary response while nutrigenomics is the study of how genes and nutrients interact at the molecular level.

He said many studies have shown that it is the interaction between genetics and lifestyle factors that contributes to the development of cardiometabolic diseases such as obesity, diabetes and cardiovascular disease.

However, he said, one can still overcome a high genetic risk through a change in diet and physical activity.

He said findings from nutrigenetics and nutrigenomics are essential to develop an optimum diet for an individual based on that individuals genetic makeup.

Link:
UKM and the University of Oxford spearhead study on obesity and NCDs - The Star Online

Fiber is an essential part of our diets. Otherwise known as roughage, it is the indigestible part of plant foods that helps reduce the risk of health conditions such as heart disease and type 2 diabetes.

There are two types of fiber, both of which are non-starch polysaccharides that people cannot digest:

But not all dietary fibers are equal. A new study published in Cell Host & Microbe has found that health benefits vary between individuals and may depend on the type of fiber, the dose consumed, and the individuals microbiome.

Researchers from Stanford School of Medicine tested how two purified soluble fibers arabinoxylan (AX) and long-chain inulin (LCI) affected a group of 18 participants.

AX is found in whole grains, such as rye, wheat, oats, and rice; LCI is found in onions, chicory root, garlic, and Jerusalem artichokes. Both types of fiber can also be taken as dietary supplements.

The participants in the study had an average age of 56.9 years. Of the 8 men and 10 women, 14 had overweight or obese, and 11 were insulin sensitive. The researchers separated them randomly into 2 groups for three crossover trials. One group started with AX, the other with LCI then switched over. Both groups finished with a mixture of fibers consisting of AX, LCI, acacia gum, glucomannans, and resistant starch.

Each trial lasted 3 weeks. In the first week, the participants consumed 10g of fiber per day, rising to 20g in the second week and 30g in the third. The participants then had a 6-8 week break between the 3 trials.

This is a VERY small study of 18 participants who are free-living meaning their food is not being controlled so between the food and the sample size, its extremely difficult to draw meaningful conclusions. Like almost all good research I read on the microbiome, this raises as many questions as it answers.

Kate Cohen, M.S., R.D.N., of the Ellison Institute for Transformative Medicine at Providence Saint Johns Health Center in Santa Monica, CA, speaking to Medical News Today.

The researchers collected plasma, serum, and stool samples from all participants at the start of the trial, then at the end of each week. They also measured their heart rate and blood pressure.

They measured changes in lipids, including cholesterol, the genetic material in the stool samples (to identify gut bacteria), plasma proteins, metabolites, and cytokines. Cytokines are inflammatory markers indicating inflammation in the body.

When taking AX, most participants had a significant drop in low-density lipoprotein (LDL), or bad cholesterol, and an increase in bile acids. The authors suggest that the increase in bile acids may contribute to the reduction in LDL. However, some participants saw no change in LDL levels.

For LCI, most, but not all, people saw a small decrease in inflammatory markers and an increase in Bifidobacterium. This gut microbe is generally regarded as beneficial to gut health. However, the highest dose of LCI (30g per day) reversed this effect. At this dose, participants saw increased inflammation and elevation in alanine aminotransferase, an enzyme associated with liver damage.

Mixed fiber supplementation yielded fewer significant changes.

The authors note that responses were not consistent for all people for either type of fiber, suggesting that each persons microbiome may determine responses.

Our results demonstrate that the physiological, microbial and molecular effects of individual fibers differ substantially.

Dr. Michael Snyder, senior study author, said in a press release.

Kate Cohen was excited to see where the authors would go next: Uncovering how different fibers interact with the microbiome is an essential step toward making personalized nutrition a reality. This research is also laying the groundwork for using food-as-medicine in a truly prescriptive way. This study confirms once again that the microbiome holds enormous potential for understanding human health.

The current recommended fiber intake is 14 grams for every 1,000 calories consumed, according to the American Academy of Nutrition.

Experts say it is best to get your fiber from food sources before using supplements.

Read more:
Dietary fiber and health benefits: Microbiome may be the key - Medical News Today

image:Dr. Vivian Wai Yan Lui view more

Credit: Michael Holahan, Augusta University

AUGUSTA, Ga. (April 28, 2022) About one-fifth of often deadly head and neck cancers harbor genetic mutations in a pathway that is key to normal cell growth, and scientists report those mutations, which enable abnormal cancer cell growth, can also make the cancer vulnerable.

Keys to targeting that vulnerability include individualized genomic analysis to identify a patients specific mutation, and finding the drugs that directly target it, investigations that should be given more attention in cancer therapy development, they report in a review article in the journal NPJ Genomic Medicine.

The MAPK pathway is a signaling hub for cells important to the usual development of the head and neck region, and activating key pathway constituents, like the genes MAPK1 and HRAS, is known to drive the growth of a variety of cancers, says Dr. Vivian Wai Yan Lui, molecular pharmacologist and translational scientist at the Georgia Cancer Center and Medical College of Georgia and the papers corresponding author.

But the mutations in the genes in the MAPK pathway that enable tumor growth can also make it sensitive to drug therapy, says Lui. While a lot of discovery is still needed to find more mutations in the MAPK pathway and the drugs that target them, Lui says they are among the most logical treatment targets for this tough-to-treat cancer.

As she speaks, she is looking in her lab for drugs that kill head and neck primary tumors from patients, and at the genetics behind how they kill.

Its critical to the survival of the cancer, says Lui, and every cancer type likely has one or more drug-sensitizing mutations that may vary in individuals depending on how they got cancer.

If these types of studies continue to find the methodology works, gene panels might need to be developed to expedite target discovery in this very heterogenous cancer, the scientists write.

More clinical trials around the globe at institutions like MCG and the Georgia Cancer Center are essential to identifying these specific mutations and drugs that target them in a precision manner, Lui notes.

Also, next on the horizon is combining this precision medicine approach with immunotherapy that better enables a patients immune system to also target the cancer, she says.

Luis interest in the MAPK pathway solidified almost a decade ago at the University of Pittsburgh where she did her postdoctoral studies and eventually joined the faculty. Her mentor was Dr. Jennifer R. Grandis (now at the University of California, San Francisco), who led the head and neck cancer program there. The patient in his 30s, a heavy smoker and drinker, had stage four head and neck squamous cell carcinoma that had metastasized to his lymph nodes. The patient went to Pittsburgh for removal of the lymph nodes and the primary tumor but was fortunate enough to be eligible for a window of opportunity trial there. Before starting any standard treatment, he received a trial drug for 13 days, in his case an epidermal growth factor receptor, or EGFR, blocker. The receptor is involved in cell growth, and is found on some normal cells, including in the head and neck area where there is a lot of natural cell turnover because of exposure to things like food and drink. However, in cancer cells, including head and neck cancer cells, EGFR is abundantly expressed for the rapid growth critical to a tumors spread and survival.

The patient was given the drug, erlotinib, which was not known to be particularly effective in these cancers but was being looked at to see if it would quieten signaling of this factor that was important to the cancers growth. When he went for surgery following the trial, the surgeon called to report there was no cancer on his tongue and studies of his 36 lymph nodes indicated they also now showed no evidence of cancer. The patient was still doing well by the time the Pittsburgh colleagues published the paper two years later in 2015 in JAMA Oncology.

His was rightly called an exceptional response, the first Lui and her colleagues had found in head and neck cancer, and she had to figure out the mutation the drug targeted to enable such a response. Exceptional responders are how the National Cancer Institute describes people who have more than a six-month response to a therapy when they are running out of treatment options.

An EGFR gene mutation was a logical choice for his mutation. Harvard investigators had previously found that in non-small cell lung cancer, EGFR activating mutations could activate tumor cell growth, which also made tumor cells addicted to the signal from the mutated EGFR. The drug erlotinib could break the addiction and inhibit cancer cell growth.

Lui didnt find an EGFR mutation in this young mans pretreatment biopsy but reasoned the mutation had to have something to do with the receptors signaling network. She was surprised and the first to find it was a MAPK1 gene mutation, MAPK1 p.E322K specifically, that could also be found in liver, breast and other cancers.

When they later engineered the mutation in head and neck cancer cells, the already aggressive cells grew even faster, Lui says of a mutation that can result from habits like heavy smoking and drinking. They would also find that the particular mutation was very common in the United States in patients with head and neck cancer, while there was a wider spectrum of mutations present in Asians with the cancer.

Erlotinib had actually failed in clinical trials because it wasnt given to the right patients, which is what precision medicine is, Lui notes. In fact, laboratory studies had indicated that activation of MAPK1 confers resistance to erlotinib, she says, while this patients response clearly counters that. Follow up work by Grandis indicated that in patients actually, the higher the MAPK1 activation, the better the cancer responded to erlotinib.

To help move cancer treatment forward, Lui encourages physicians who come across these types of exceptional responses to report them, work with scientists to study them, then pursue clinical trials when appropriate.

For patients, her message is not to give up because with more high-levelanalysis of tumors, there might be a certain mutation that makes their cancer vulnerable to a specific medication, she says of these gene-drug responses that are the focal point of her translational work.

There are secrets that make the cancer vulnerable, Lui says. When cancer cells have an important gene mutation that they are activating or that cancer cells are addicted to for survival, then when you hit that signaling pathway, the cancer cells will die or be really well controlled.

Prior to the era of genomic medicine, when scientists began to identify and target a specific gene mutation, non-precision drug treatment of the MAPK pathway in head and neck cancers as well as other cancers were futile, and typically failed miserably in clinical trials, Lui and her colleagues write.

While the reasons may be uncertain, they likely include the wrong drug for that specific, problematic mutation, Lui says, as well as the fact that some MAPK pathway mutations are known to convey drug resistance.

Either way, there is a lot of work to do. Today there are just a handful of drugs that target specific, cancer-causing mutations in head and neck cancer but there arent effective precision drugs for about 80% of patients, Lui and her coauthors write.

But there is mounting evidence that targeting specific MAPK pathway mutations in the pathway like MAPK1, HRAS, KRAS and BRAF can be very effective for these patients.

As an example, the RAS inhibitor tipifarnib received Breakthrough Therapy Designation by the Food and Drug Administration in February 2021 for patients with a specific recurrent or metastatic HRAS-mutant head and neck squamous cell cancer. HRAS is involved in cell growth signaling.

Also, studies indicate that EGFR targeted therapy in metastatic non-small cell lung cancer, increases progression-free survival to a median of 18.9 months and median overall survival beyond three years and reduces death rates about 52%. In 2016 the Food and Drug Administration modified its approval of erlotinib to treat non-small cell lung cancer patients with the specific EGFR mutations. In 2020, the FDA approved erlotinib in combination with ramucirumab, a monoclonal antibody that binds to a receptor for vascular endothelial growth factor, or VEGF, which tumors use to grow the blood vessels they need to thrive, as a frontline treatment for these cancers. The FDA granted Breakthrough Therapy Designation to tipifarnib, an inhibitor of a protein which has the downstream effect of interfering in this case with mutations of the gene HRAS, which is also involved in cell division and in the MAPK pathway. There are now more than 1.5 million people with non-small cell lung cancer on precision medicine because of investigators who continued to examine the initial few responders, Lui says.

Lui is a native of Hong Kong, who was on the faculty of The Chinese University of Hong Kong before joining the MCG faculty in October 2021. In 2020 Lui and her colleagues reported that MAPK pathway mutations are a factor in about one-fifth of head and neck cancer patients and that unexpectedly these mutations are associated with longer patient survival than other causes like human papillomavirus.

Head and neck cancer is typically aggressive and often both the disease and its treatment are painful and disfiguring. It carries a higher risk of suicide than many other cancer types. The incidence of head and neck cancer is going up across the world, with causes including tobacco and/or alcohol use, air pollutants, cancer causing viruses like the sexually transmitted HPV, and Epstein-Barr virus, one of the most common viruses that is primarily spread by saliva and can cause problems like infectious mononucleosis. Other causes include poor dental hygiene and chewing betel nut, a stimulant which comes from the Areca palm plant, and is used as a recreational drug and as a still-unproven treatment for problems like schizophrenia and glaucoma. Chewing betel nut is a common cultural practice in South and Southeast Asia and the Asian Pacific. Its often chewed with products like tobacco and has been associated with cancer and a host of other medical problems like a slow heart rate and stomach ulcers.

The carcinogens largely damage the lining of the head and neck region resulting in one or more mutations that can lead to cancer.

Read the full study.

npj Genomic Medicine

Precision drugging of the MAPK pathway in head and neck cancer

16-Mar-2022

Read the original post:
Gene mutations that contribute to head and neck cancer also provide precision treatment targets - EurekAlert

In the age of omicron, where COVIDs attack rate is higher than previous variants, entire households and friend groups are getting sick. If one person gets COVID, theres a good chance others in their home will also get infected.

Whats odd, though, is occasionally only one or two people in that friend group or family unit will test positive on a rapid test. The rest, though symptomatic, test negative. Are rapid tests missing more infections now than they did with previous variants?

Despite the anecdotal evidence, the latest research suggests the kits work just as well on omicron as they did with delta (meaning they can catch about 80% of cases confirmed by a positive PCR test).

In general, the rapid tests seem to be performing on par with omicron as well as the other variants, Wilbur Lam, a professor of pediatrics and biomedical engineering at Emory University and a researcher who has been evaluating COVID diagnostic tests for the federal government, told HuffPost.

Rapid antigen tests are designed to detect a specific version of a virus. As variants have emerged, scientists have wondered if the new mutations could impact rapid tests ability to detect the changing virus but this hasnt been the case.

Most evidence suggests that rapid antigen tests work just as well with omicron as they did with previous variants like delta and alpha. A study from UMass Chan Medical School found that rapid tests caught 92% of omicron infections and 82% of delta infections that had been confirmed on a positive PCR test.

Theres not as much research on how the tests hold up with omicrons subvariants, like the now-dominant variant BA.2, but Nathaniel Hafer, an assistant professor of molecular medicine at UMass Chan Medical School who worked on the UMass study, isnt too concerned.

My hunch is that these tests can still detect BA.2, he said. BA.2 is a subvariant of omicron and variants have been consistently detected by rapid antigen tests all along, largely because the piece of the virus these tests look for hasnt mutated too much, according to Hafer.

Oliver Helbig via Getty Images

Heres why the tests may be missing some cases.

Still, rapid at-home tests arent foolproof, and there have been enough anecdotes to show theyre missing some percentage of cases. Scientists have a few theories as to why this might be.

First, is the heightened transmissibility of omicron and its subvariants (like BA.2). These variants are spreading so quickly that many people are likely testing themselves too soon, before the virus has had a chance to really multiply in the body.

There might actually not be a high enough concentration [of virus] in the nose for it to pick up yet, Lam said.

Another theory: Omicron is more present in the throat than the nose. During the height of the omicron wave, tons of people shared their experiences on Twitter about how they tested positive via a throat swab after their nose swabs yielded negative results. However, Anne Wyllie, a microbiologist at Yale School of Public Health, said we dont have accurate estimates on this because the FDA hasnt authorized rapid antigen tests for oral swabs.

It is where omicron is first detectable, which is why people continue to test negative for days with nasal swabs, yet [are] exhibiting symptoms, Wyllie said. But studies have specifically looked at this and found that omicron is everywhere the throat, the nose, our saliva and oral swabs, though useful, are no better than nasal swabs.

Some scientists suspect that vaccination may decrease the viral load in certain peoples nasal cavities. Essentially, their immune systems may already be fighting the virus and preventing it from replicating itself rapid tests need a high viral load to produce a positive test, so if there isnt enough virus present, the test kit wont detect it. Lam and his research team are actively studying how vaccination status and the timing of vaccination and boosters impact viral load and sensitivity of the tests, but dont have results yet.

We think that perhaps a person thats recently boosted might be prone to having lower sensitivity but thats still our hypothesis, Lam said.

Everyones immune systems are a little bit different. Some peoples immune systems might simply fight and block the virus from replicating more successfully than others. Additionally, symptomatic people tend to have higher viral loads, which are more detectable on a rapid antigen test, than asymptomatic people, who typically have lower viral loads.

People who have higher viral loads in their nose and in their head cavities are definitely going to be more likely to be positive on an antigen test, Hafer said.

Theres always the chance people could also have symptoms for different reasons seasonal allergies and other common respiratory viruses are back and circulating, Hafer added.

Lastly, theres likely some human error involved. Some may not swab deep enough or enough times, which would impact how much virus a swab collects.

The tests also work best with serial testing, or testing over multiple days. This gives the viral load the opportunity to build up and reach levels that are detectable on a rapid test, Lam said. On average, PCR tests which are much more sensitive show positive results about two days before rapid tests.

So while you might get a negative test result on your first day of symptoms, theres a much better chance your rapid test will turn positive a couple days later once your viral load is higher.

Experts are still learning about COVID-19. The information in this story is what was known or available as of publication, but guidance can change as scientists discover more about the virus. Please check the Centers for Disease Control and Prevention for the most updated recommendations.

Link:
My At-Home Rapid Test Is Negative, But Could I Still Have COVID? - HuffPost

Carol Gregorio, PhD, professor and head of the Department of Cellular and Molecular Medicine at the University of Arizona College of Medicine Tucson, co-director of the Sarver Heart Center and assistant vice provost for Global Health Sciences, was named as a fellow of the American Association for the Advancement of Science (AAAS). Dr. Gregorio is being honored for her internationally recognized contributions toward understanding heart and skeletal muscle structure, function and disease. The designation is one of the most distinct honors in the scientific community.

It is an honor to be recognized among people of such excellence in their research, Dr. Gregorio said.

Dr. Gregorio, who is also the director of the Molecular Cardiovascular Research Program and a member of the BIO5 Institute, earned her bachelors and masters degrees from the State University of New York at Buffalo and her doctorate from Roswell Park Cancer Institute in New York. She did her postdoctoral research at the Scripps Research Institute in La Jolla, California.

My research is focused on identifying the components and molecular mechanisms regulating contractile proteins in cardiac muscle, Dr. Gregorio said. By studying the effects of human mutations in contractile proteins those responsible for allowing the heart to beat my lab can decipher how the protein normally functions in health and development, which is important for predicting heart disease before it manifests and for designing potential therapeutics for cardiomyopathies.

Dr. Gregorio joined the University of Arizona Health Sciences in 1996 as a faculty member. I feel privileged to work with a strong team of faculty and researchers in the Department of Cellular and Molecular Medicine, Molecular Cardiovascular Research Program and Sarver Heart Center who continuously challenge me to continue to be productive and to address critical gaps in our knowledge about heart and skeletal myopathies at the cellular and molecular levels, she said.

The AAAS is the worlds largest general scientific society and publisher of the Science family of journals. The AAAS Fellows tradition began in 1874 to recognize individuals for their extraordinary achievements across disciplines. Past fellows include scientists, engineers and innovators who have made significant contributions to research, teaching, technology, communicating and interpreting science to the public, and administration in academia, industry and government. Along with Dr. Gregorio, UArizona plant sciences professor A. Elizabeth (Betsy) Arnold, PhD, and professor of linguistics Cecile McKee, PhD, also were elected as fellows to the AAAS.

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Dr. Carol Gregorio Named AAAS Fellow | UArizona Health Sciences - University of Arizona

BioinformaticsMarket: Introduction

According to the report, the globalbioinformatics marketwas valued at US$24.7Bn in 2020 and is projected to expand at a CAGR of5.9%from 2021 to 2028. Bioinformatics is used to manage the data gathered from research & development projects in the biopharmaceutical, life sciences, and biotechnology industries. Growth of the bioinformatics market is driven by rise in applications of IT in the healthcare sector, along with robust technological advancements. The usage of information technology or IT has enabled easy storage, processing, access, and retrieval of data.

Additionally, the demand for advanced treatment of several diseases and effective preventive solutions is rising. Hence, healthcare professionals focus on research & development projects. Moreover, surge in R&D activities has led to rise in data generation, which increases demand for efficient technology for data management in the healthcare sector.

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Usage of Bioinformatics in High Throughput Screening

The high throughput screening is an emerging bioinformatics field that performs biological tests at high speed with the help of data processing software, sensitive detectors, and liquid handling devices. Increase in importance of high throughput screening in drug discovery is likely to drive the global bioinformatics market over the next few years.

Platforms Segment to Dominate Global Market

The global bioinformatics market has been segmented into services, tools, and platforms. These are commercially available for the purpose of processing the data obtained from various research & development projects employing bioinformatics. In terms of consumption, the platforms segment dominated the global market in 2020, accounting for leading share. The growth of the segment can be attributed to rise in usage of bioinformatics in the process of drug discovery and increase in research & development activities. However, the services segment is projected to dominate the global market during the forecast period.

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Molecular Medicine Segment to Dominate Market

Bioinformatics has applications in preventive medicine, molecular medicine, gene therapy, drug development, and others. Other application areas include forensic analysis of microbes, genetic research for antibiotic resistance, and veterinary science. The molecular medicine segment accounted for the largest market share in 2020. The drug development segment is anticipated to expand at the highest CAGR from 2021 to 2028.

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North America to Dominate Global Market

In terms of region, the global bioinformatics market has been segmented into North America, Europe, Asia Pacific, Latin America, and Middle East & Africa. North America dominated the global bioinformatics market in 2020, followed by Europe. Availability of developed technology, structured regulatory framework, higher adoption rate of new technology, and significant investment in research & development by companies boost the growth of the bioinformatics market in North America and Europe. Asia Pacific is a lucrative market for bioinformatics. Factors such as surge in government initiatives to boost biotechnology research & development activities in respective country, increase in funding, rise in awareness about bioinformatics, and surge in literacy rate are expected to fuel the growth of the bioinformatics market in Asia Pacific.

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Competition Landscape

The global bioinformatics market is fragmented in terms of number of players. Key players in the global market include Accelrys, Inc., ID Business Solutions, Ltd., Affymetrix, Inc., CLC bio A/S, Agilent Technologies, Inc., GenoLogics Life Sciences Software, Inc., Life Technologies Corporation, and Illumina, Inc.

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Bioinformatics Market Size will Grow Profitably in the Near Future - Digital Journal