Category Archives: Genetic medicine

SALT LAKE CITY, Nov. 21, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced that Japans Ministry of Health, Labour and Welfare (MHLW) has approved the BRACAnalysis Diagnostic System (i.e., BRACAnalysis) to help physicians determine which women with breast cancer have Hereditary Breast and Ovarian Cancer (HBOC) syndrome and qualify for additional medical management. BRACAnalysis is a genetic test that identifies germline mutations in the BRCA1/2 genes.

We are excited that the MHLW has approved the BRACAnalysis Diagnostic System for HBOC risk assessment in patients with breast cancer, said Seigo Nakamura, M.D., Ph.D., Professor and Chairman, Department of Surgery, Division of Breast Surgical Oncology and Director, Breast Center of Showa University Hospital in Tokyo and president of the Japanese Organization of Hereditary Breast and Ovarian Cancer (JOHBOC). Our goal is to use the BRACAnalysis test to identify patients with BRCA mutations and determine who will benefit from more advanced medical care.

Under the MHLW decision, physicians may use BRACAnalysis to test for BRCA mutations in women with breast cancer who meet the genetic testing guidelines defined by JOHBOC. Those patients who test positive for a deleterious BRCA mutation will be eligible to receive advanced medical management, such as prophylactic surgery or targeted therapies.

Myriads BRACAnalysis test is the gold standard for BRCA testing. The approval of BRACAnalysis for HBOC risk assessment in Japan is further validation of the quality and utility of our pioneering genetic test, said Gary A. King, executive vice president of International Operations, Myriad Genetics. We look forward to working with our commercial partners in Japan to ensure that BRACAnalysis is available to patients.

Myriad has an exclusive partnership with SRL Inc., a subsidiary of Miraca Group, to commercialize the BRACAnalysis Diagnostic System in Japan.

Todays announcement follows two prior regulatory approvals for the BRACAnalysis Diagnostic System in Japan. In February 2019, BRACAnalysis was approved as a companion diagnostic for Lynparza (olaparib) in women with ovarian cancer, and in March 2018, it was approved as a companion diagnostic for Lynparza in patients with metastatic inoperable or recurrent breast cancer.

About the BRACAnalysis Diagnostic SystemBRACAnalysis is a diagnostic system that classifies a patients clinically significant variants (DNA sequence variations) in the germline BRCA1 and BRCA2 genes. Variants are classified into one of the five categories; Deleterious, Suspected Deleterious, Variant of Uncertain Significance, Favor Polymorphism, or Polymorphism. Once the classification is completed, the results are sent to medical personnel in Japan for determining the eligibility of patients for treatment with Lynparza.

About SRLSince the establishment in 1970, SRL, Inc., a member of the Miraca Group, Japan-based leading healthcare group, has been providing comprehensive testing services as the largest commercial clinical laboratory in Japan. SRL carries out nearly 400,000,000 tests per year, covering a wide range of testing services including general/emergency testing, esoteric/research testing, companion diagnostics tests, genomic analysis, and etc. For more information, please visit https://www.srl-group.co.jp/english/.

About Myriad GeneticsMyriad Genetics Inc., is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, ForeSight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Lynparza is a registered trademark of AstraZeneca.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to Japans Ministry of Health, Labour and Welfare (MHLW) marketing approval of the companys BRACAnalysis Diagnostic System to identify patients with breast cancer who would be eligible for additional medical management; the Company working with commercial partners in Japan to ensure that BRACAnalysis is available to patients; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

Media Contact: Ron Rogers(801) 584-3065rrogers@myriad.com

Investor Contact:Scott Gleason(801) 584-1143sgleason@myriad.com

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Myriad Genetics Announces Regulatory Approval of the BRACAnalysis Diagnostic System in Japan for Breast Cancer Patients - BioSpace

Her genetic makeup indicated that she would almost certainly get Alzheimers disease by the age of 50. But one woman escaped that fate. She lived into her 70s before experiencing any issues with thinking skills, and even then avoided the worst of the condition.

Could this womans rare genetic mutation shift our understanding of Alzheimers disease?

Thats the theory from scientists who studied the case of a Colombian woman with a unique quirk of DNA that kept dementia at bay for decades. She was seemingly protected from the effects of Alzheimer's though her brain had already developed a key characteristic of the disease. In a study published earlier this month in the journal Nature Medicine, the researchers note that the findings could shed light on new ways of treating and possibly preventing the degenerative brain disease.

For most people, the causes of Alzheimers are largely unknown and not dictated by genetic predisposition. But the woman, who was not named in the study, was part of a group of Colombian families with a high genetic likelihood of developing early-onset Alzheimers. These 1,200 individuals, most from the town of Yarumal, tend to experience problems with memory and thinking skills at an unusually early age, typically in their 40s.

Yet it wasnt until her 70s that the woman developed any mental problems at all. Later in life she was diagnosed with whats called mild cognitive impairment, where her thinking skills had dulled, but not to the point of a dementia diagnosis. In other words, no Alzheimer's.

Tests on the womans brain showed high levels of amyloid beta, a sticky protein that accumulates into the plaques that have become a hallmark of the disease. But she didnt present any of the symptoms associated with Alzheimers, such as memory loss and behavioral issues. Nor did she show other neurological signs of the disease, like tangles of tau, a protein that accumulates in the brains of Alzheimers patients. She also suffered little neurodegeneration, the death of the brains nerve cells.

So, what kept her healthy for all those years?

In addition to the mutation that causes early-onset Alzheimers, the researchers found another rare mutation, in a gene called APOE. Usually, the gene is known for making molecules that carry cholesterol and other fats through the bloodstream.

Dubbed the Christchurch mutation, after the New Zealand town where it was discovered in 1987, the rare gene may have helped to counteract the negative effects of Alzheimers, staving off the onset of dementia.

And while the study authors note that the groundbreaking case provides new possibilities for treating Alzheimers disease, further research and a larger sample size are needed to establish a link between the Christchurch mutation and protection from the disease.

It has to be hoped that this spurs research into [additional] therapies, saidJohn Hardy, a neuroscientist at University College London who was not involved in the research, in a prepared statement. It is, however, a single case report and it is prudent to be cautious about over-interpreting a single patients data.

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Alzheimer's Plagued Her Family. But a Rare Genetic Mutation Spared This Woman's Mind - Discover Magazine

During the process ofin vitrofertilization (IVF), it is not unusual for embryos to undergo preimplantation genetic diagnosis (PGD) identify specific inherited disease-causing mutations for single-gene disorders, like cystic fibrosis. Recently, new developments in genetics have given the ability to assign individuals "polygenic scores," which can somewhat explain the variability seen in complex human traits. This concept, applied to IVF embryos, has raised the prospect of "designer babies." However, there has been no research published to indicate the potential success of polygenic embryo selection.

"The notion that you could accurately choose your child's height or select for a higher IQ, like in the movie 'Gattaca,' has never been tested," said Dr. Lencz, professor in the Institute of Behavioral Science at the Feinstein Institutes and co-corresponding author of the Cell paper. "Through our research, we can confidently say that trait predictions for embryos based on polygenic scores are not very accurate."

Dr. Lencz and the team analyzed embryo selection for height and IQ in the context of a hypothetical IVF cycle. Investigators used three sources of data to evaluate the efficacy of trait selection, including a mathematically-derived genetic model, simulated embryo genomes, and a real dataset of nuclear families with large numbers of offspring (10 on average) who are now fully-grown adults with available genetic and trait (height) data.

The results concluded that screening for such traits using polygenic scores would leave a large margin for error. For example, children with the highest polygenic score for height were only the tallest in a quarter of families analyzed.

"Dr. Lencz's study adds important data highlighting the unreliability of trait selection by current methods of embryo genetic screening," saidKevin J. Tracey, MD,president and CEO of the Feinstein Institutes.

The ethical and legal debate surrounding polygenic embryo selection is already underway, but, until now, without a solid scientific foundation. The research team hopes that this work will promote an open and evidence-based discussion of these aspects among the public and policymakers.

Previously, an overview of this research was presented at the American Society for Human Genetics Annual Meeting in October by Dr. Lencz's co-lead, Dr. Shai Carmi of the Hebrew University of Jerusalem.

About the Feinstein Institutes The Feinstein Institutes for Medical Researchis the research arm of Northwell Health, the largest health care provider and private employer in New York. Home to 50 research labs, 2,500 clinical research studies and 4,000 researchers and staff, the Feinstein Institutes is raising the standard of medical innovation through its five institutes of behavioral science, bioelectronic medicine, cancer, health innovations and outcomes, and molecular medicine. We're making breakthroughs in genetics, oncology, brain research, mental health, autoimmunity, and bioelectronic medicine a new field of science that has the potential to revolutionize medicine. For more information about how we're producing knowledge to cure disease, visit feinstein.northwell.edu.

SOURCE The Feinstein Institutes for Medical Research

http://www.feinstein.northwell.edu

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New research casts doubt on near reality of 'designer babies' - PRNewswire

Matthew Breen, a professor of genomics at NCState, says his 25-year career has roots in childhood heartbreak.

When I was young, my family had two dogs die from cancer and there was very little we could do to help them, says Breen. There were great strides being made with human cancer research, so why were we unable to help our animal companions more?

We are committed to making that change happen at NCState, he adds.

Today, the internationally recognized researcher specializes in molecular cytogenetics: the study of the structure and function of cells and chromosomes. His work in the College of Veterinary Medicine is helping our pets live longer, healthier lives and unlocking new insights about human cancers along the way.

Since joining NCStates faculty in 2002, Breen has focused on exploring the genetics and genomics of animal diseases, including how they initiate and respond to treatment.

He was a member of the team that sequenced the canine genome 14 years ago. The project sparked a new area of focus in his field: comparing the canine and human genomes to accelerate discoveries for both.

Humans and their furry friends actually share a very similar genetic makeup. And they share certain types of cancers, too. Many cancers diagnosed in humans and dogs have a similar pathology and clinical presentation, says Breen.

But when it comes to canines, its often easier to pinpoint the genetic abnormalities that lead to those cancers. This is especially the case for purebreds. Dogs of the same breed have less genetic variation among them than humans or mixed-breed dogs, making them an ideal genetic model.

Now, Breens lab works extensively in the area and hes become a pioneer in comparative oncology.

By working with human and animal cancers side by side, we are able to find shared features that may help identify the drivers of these cancers and provide opportunities to highlight targets for new therapies, says Breen.

Take, for example, Breens work with the BRAF gene.

Six years ago, his team discovered that a single mutation in the gene was found in 85% of dogs with transitional cell carcinoma (TCC) also called urothelial carcinoma (UC) which is the most common form of bladder cancer in canines. More than 80,000 dogs in the United States will be affected this year alone.

This particular BRAF mutation was already known to exist in some human cancers, but Breens discovery helped unlock its significance for both species. It also revealed an opportunity to create a much-needed tool to aid diagnosis.

By working with human and animal cancers side by side, we are able to find shared features.

In most cases, canine bladder cancer isnt diagnosed until it has reached an advanced stage. Thats because the cancer shares many clinical signs with other, more common urinary tract conditions.

Treatments for the common alternatives may alleviate symptoms temporarily, but they mask the larger problem and buy the cancer more time to progress. In fact, upon diagnosis, more than half of canine bladder cancer cases have already spread.

Identifying the BRAF mutation as a genetic signature of canine bladder cancer was a powerful insight. From there, Breens team began developing a molecular diagnostics test that could identify the mutation and detect the cancer earlier than ever.

That molecular test called CADET BRAF was developed in Breens research laboratory in 2014. Using a urine sample, the system detects cells that possess the BRAF mutation and can monitor changes in the number of mutated cells being shed during treatment of canine TCC and UC.

CADET BRAF represents the worlds first liquid biopsy for the detection of cancer in veterinary medicine, says Breen.

It offers several improvements over current alternatives. Requiring only a simple free-catch urine sample, CADET BRAF is the only non-invasive approach. Other methods often involve costly procedures, such as sedation or anesthesia, that carry additional risks.

The test can also detect bladder cancer in the early stages of the disease, potentially leading to improved outcomes.

CADET BRAF represents the worlds first liquid biopsy for the detection of cancer in veterinary medicine.

We can detect the cancer in dogs that have already presented with clinical signs and avoid repeated attempts to treat solely the signs, says Breen. That allows more time for the veterinarian and owner to develop a plan to treat the root cause. In addition, we have been able to detect the presence of very early disease, several months before the dog has any clinical signs.

Now we have to determine how to manage these preclinical patients, and that is part of ongoing work by our team at NCStates College of Veterinary Medicine, he adds.

The test is also dependable. After rigorous validation of thousands of dogs, Breen says hes found that the presence of the BRAF mutation in canine urine is a highly reliable indicator of the presence of TCC/UC. Weve shown the BRAF mutation isnt found in the urine of healthy dogs or dogs that have other common conditions such as bladder polyps, inflammation or chronic cystitis, he says.

In the two years following the development of CADET BRAF, Breen focused on developing a strong proof of concept. Teaming up with the American Kennel Club, he recruited urine samples from hundreds of dogs to show that the approach could work with real patients.

His next step was commercialization. Breens startup, Sentinel Biomedical, was formed in 2015. Located right on NCStates campus, the company works to develop and scale diagnostic tests for the health care industry.

Since its formation, theyve developed another product called CADET BRAF-PLUS. The test is designed for dogs who dont have the BRAF mutation but do show clinical signs of TCC/UC. It can detect over two-thirds of bladder cancer cases not identified by CADET BRAF, increasing the overall detection sensitivity of the tests to over 95%.

Headquartered right on NCStates campus, Sentinel Biomedical seeks to improve diagnosis and treatment for dogs and their owners.

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Whats next for Sentinel Biomedical? It recently announced a joint venture with Antech Diagnostics, part of MARS. Together theyve formed Antech Molecular Innovations, also based on NCStates Centennial Campus, and work to broaden access to CADET BRAF and CADET BRAF-PLUS.

With the distribution channels of one of the worlds largest animal health providers, we are providing veterinarians with easy access to the tests we develop and enhancing our ability to become a global leader in innovation for veterinary molecular diagnostics, says Breen. And because our work is translational, we also have greater potential to translate our findings to humans.

This will bring the innovations developed at NCState to a whole new level.

Today, the National Cancer Institute spends $6 billion on cancer research annually, and its estimated that less than 0.5% is directed toward veterinary oncology. But Breen sees his innovations and those of his colleagues across the nation as promising steps in the right direction.

Currently, hes involved in a clinical study in the College of Veterinary Medicine that will evaluate the timeline between when a BRAF mutation is detected in a dogs urine and when that dog begins to show clinical signs of TCC/UC. Breen hopes this knowledge will lead to earlier intervention, improved quality of life and increased survival rates.

This will bring the innovations developed at NCState to a whole new level.

Recent collaborations with colleagues at Duke Cancer Institute are also exploring the genetic and environmental factors shared between canine and human bladder cancers. A study proposed by this multidisciplinary team was awarded funding from the V Foundation for Cancer Research in 2019. Such comparative oncology studies, Breen says, have the potential to realize the true value that dogs can bring to our fight against cancer.

Through Antech Molecular Innovations, Sentinel Biomedical has begun pursuing more projects to provide rapid, accessible molecular diagnostics for a variety of cancers that impact our pets and ourselves.

For now, Breen is excited to see his work take on a wider reach. These cancer detection tests will help a new generation of canine companions and their human friends (maybe even kids who are experiencing what Breen did as a child). Whats more, the increased volumes of data theyll collect may unlock insights that lead to the development of new treatment opportunities for cancers in both species.

Although we may not be able to help all dogs with cancer today, we are driven to learn from their cancers to help the dogs of tomorrow, and the families who care for them, says Breen.

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Sniffing Out Cancer in Canines And Humans, Too - NC State News

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Describing the structure of cilia opens doors to understanding range of diseases

Cilia contain structures called ciliary doublet microtubules. Pictured is a cross section of one of these structures. A new study from Washington University School of Medicine in St. Louis and Harvard Medical School has described the most detailed picture yet of these vital cellular structures. The microtubule is shown in gray, and the newly identified proteins decorating the microtubule are depicted in various colors.

Cilia, or flagella whiplike appendages on cells perform diverse tasks required to keep the body healthy. When cilia malfunction, the consequences can be devastating, causing a range of problems, from blindness, to lung and kidney diseases, to congenital heart defects. Now, scientists have revealed the first detailed look at the inner structure of cilia.

The newly revealed structure offers a starting point to begin exploring how cilia are assembled during development, how they are maintained over a cells life span, and how they might become dysfunctional if some of the cogs in these complex molecular machines are mutated or missing. The structure of these microscopic molecular machines common to cells in organisms from algae to people potentially will answer questions about human health and disease.

The research, by investigators at Washington University School of Medicine in St. Louis and Harvard Medical School, was published recently in the journal Cell.

This new study is exciting because it fills in a lot of missing information about the structure of cilia, said senior author Rui Zhang, PhD, an assistant professor of biochemistry and molecular biophysics at Washington University. When cilia dont work properly, bad things happen. We need to know details of the structure in order to develop treatments for diseases, or strategies to prevent the developmental defects that can occur in the early embryo if the cilia are not functioning as they should.

In the respiratory tract, cilia move mucus and protect against viral and bacterial illnesses. In the reproductive tract, they propel sperm to fertilize an egg. Cilia also perform vital tasks in the brain, the kidney, the pancreas and in bone growth. And in the earliest stages of development, the rotational motion of specialized cilia in the embryo defines the bodys left-right asymmetry and where organs are placed. Without properly functioning cilia, the heart may not end up on the left side, where it should be, and it may not function properly.

Cilia are implicated in multiple human disorders, including polycystic kidney disease, which affects some 600,000 Americans and requires dialysis; primary ciliary dyskinesia, which causes chronic lung disease, misplaced organs and infertility; Bardet-Biedl syndrome, which causes patients to become blind in childhood and leads to diabetes, kidney disease and extreme obesity; and many congenital heart defects, which occur when left-right asymmetry goes awry and require complex surgeries to repair.

In the new study, the researchers used a technique called single particle cryo-electron microscopy to get a first look at 33 specific proteins arranged inside cilia within structures called ciliary microtubule doublets in a strict repeating pattern.

Before this work, everyone assumed these proteins inside cilia just stabilize the structure, which is true for a subset of the proteins, especially when you consider the forces produced by the continuous beating of the cilia, Zhang said. But based on how they are arranged inside this structure, we believe these proteins are doing many more things.

Since many of the proteins protrude through the cilia, Zhang and his colleagues speculate that they may allow for communication between the inside and the outside of the ciliary microtubule doublets; govern the function of enzymes that make important biochemical reactions possible; and sense changes in the calcium concentration of the environment, which plays a role in triggering the cilia to beat.

Among the proteins identified, five are associated with diseases that have been studied in mice and people, said co-author Susan K. Dutcher, PhD, a professor of genetics at Washington University. But until now, no one knew that these proteins were found inside cilia. We are just beginning to understand their roles in normal and disease states.

The researchers studied cilia in a type of algae calledChlamydomonas reinhardtii, which are single-celled organisms that have cilia structurally and biochemically similar to those of more complex organisms, including people. One question Dutcher is interested in answering is how the proteins making up cilia structure govern the type of motion that the cilia perform. The cilia of single-celled C. reinhardtii are capable of more than one type of motion.

In some situations, the cilia are doing what you might consider a breast stroke, Dutcher said. In others, the motion is more of an S-shaped wave. The cilia of many cells in mammals can only produce one of these motions. But the single-celled C. reinhardtii, perhaps to help it adapt to its environment, can switch between them. Thats why were studying algae at a medical school the genetic problems we can study in the cilia of these organisms are similar to the ones that can occur in people, often with devastating consequences.

Zhang, Dutcher and their colleagues have plans to use the latest techniques of cryo-electron microscopy to study the Chlamydomonas mutants of each of the 33 proteins inside cilia to seek answers to many questions that have arisen from this new and detailed knowledge of the structure.

This work was supported by the National Institute of General Medical Sciences (NIGMS) of the National Institutes of Health (NIH), grant number R01GM032843; the International Retinal Research Foundation; the E. Matilda Ziegler Foundation for the Blind; the Smith Family Foundation; and the Pew Charitable Trusts.

Ma M, Stoyanova M, Rademacher G, Dutcher SK, Brown A, Zhang R. Structure of the decorated ciliary doublet microtubule. Cell. Oct. 31, 2019.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, ranking among the top 10 medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Scientists unravel mysteries of cells' whiplike extensions - Washington University School of Medicine in St. Louis

At the start of this decade, the federal government called out consumer DNA testing as a burgeoning scam industry. Little did we know how it would explode in popularity.

In 2010, the U.S. Government Accountability Office (GAO) published an investigative report that bashed consumer DNA test companies for misleading the public. It accused them of deceptively claiming their products could predict the odds of developing more than a dozen medical conditions; some even went as far to offer equally dubious dietary supplements. The report had followed a similar lambasting of the industry by the GAO in 2006.

Also in 2010, the FDA publicly warned 23andMe and other companies that genetic health tests were considered medical devices and needed to be cleared by the FDA before they could be sold to the public. Three years later, following a lack of response from 23andMe, the agency took the harsh step of temporarily banning 23andMe from selling its health-related tests at all.

Despite these hurdles, the DNA testing industry has nonetheless exploded. According to a report by MIT Technology Review this February, more than 26 million people have had their DNA tested by the biggest names in the industry, with AncestryDNA, 23andMe, and MyHeritage being the top three.

Consumer DNA testing is undoubtedly now mainstreambut its not much less scammy than it was when the decade started.

The industry has existed since the late 1990s. But in 2007, the new kid on the block, 23andMe, became the first company to offer a particular kind of at-home DNA test that was cheap, easy to use, and promised to track back your origins further back than ever before.

23andMes testsand eventually those of its competitorssearch for and analyze the most common genetic variations, called single nucleotide polymorphisms (SNPs), in our autosomal DNA, the 22 of 23 pairs of chromosomes not used to determine sex. For as little as $99 and a spit sample, these SNP-based tests are advertised to determine a persons ancestry or genetic health risks. But much of this realm of consumer DNA testing, as the GAO report showed, can uncharitably be described as complete bullshit.

The crux of the problem is that our genetics are only a piece of the puzzle that influences our health. Sure, you can sometimes point to a specific gene mutation that always makes someone sick in a specific way if they carry it. But much more often, its a complex, barely understood mix of gene variants that predispose us to develop cancer or heart diseaseand that risk can be amplified or muted by our environment (including the crucial months we spend in the womb).

In the earliest days, companies didnt much care for this complexity, using weak evidence to make sweeping health claims about which genes ought to make you more of a fish eater or develop diabetes.

Following the FDAs ban in 2013, 23andMe spent the next two years devising genetic health tests that wouldnt overpromise. In 2015, it was allowed to sell tests that told people if they carried a recessive mutation for genetic conditions like Bloom syndrome and sickle-cell disease. A positive test meant their children would have a 25 percent chance of having the condition if both parents were carriers. Two years later, it became the first company with FDA-approved tests that were allowed to tell people about their risk of developing one of 10 diseases or conditions, such as late-onset Alzheimers or celiac disease.

23andMes return to the health side of things wasnt the only fuse that lit a fire under the consumer DNA industrythe tens of millions in annual advertising now being spent by companies like MyAncestry certainly helped, too. But regardless, the FDAs approval of these tests signaled a new opening in the industry. And unsurprisingly, the industry as a whole has ballooned, as has the glut of scammy services on offer.

Many of these companies now steer clear of making blanket health claims, but it doesnt make them any less laughable. Your DNA results can apparently tell you whether youve found your romantic match, how to be good at soccer, and, like a decade ago, how to find the perfect diet and avoid bloating. Just dont pay attention to the studies showing that theres no consistent link between genes seemingly tied to our nutrition and any actual diet-related conditions.

Its not only the tests vaguely connected to our health that are the problem. As Gizmodo once illustrated, even relying on these DNA tests to figure out your ancestry is a dicey proposition. At best, youre roughly estimating where your recent ancestors lived, but that estimate can vary widely depending on which company does the testing, thanks to the different algorithms they use. And the farther away your lineage is from Europe, the less accurate these tests will be for you, thanks to the fact that the algorithmsas well as the research linking genes to our healthare largely based on the DNA of white Americans and Europeans.

Health and ancestry aside, sharing your DNA with the outside world can have unintended consequences. Law enforcement agencies are now using genealogy databases to solve criminal cases, by connecting anonymous crime scene DNA to DNA submitted to these family tree companies, working backward through distant relatives to identify their suspect. And while some people may be fine with this genetic sleuthing, there are no clear rules on how this data can be used by law enforcementtheres merely the promise by private companies that they will share responsibly. This November, police in Florida obtained a warrant to search through a third-party genealogy database, months after the service had enforced a new opt-in policy meant to let users decide if they wanted their data to be searchable by police in these cases.

At a certain point, it wont even matter whether youve decided to share your DNA. A study last October estimated that once enough peoples DNA is in a databasea scant 2 to 3 percent of any given populationanyone could conceivably track the identity of every person in that population using the same techniques genetic detectives are using now. And researchers have already demonstrated how less scrupulous forces, including hackers, could actively manipulate these databases.

None of this is meant to diminish the real potential of genetics as a field of research and medicine, nor the progress that has been made over the past decade.

Companies like 23andMe rely on detecting thousands of genetic markers still only a tiny slice of our DNA. But the technology that allows a persons entire genome to be sequenced has vastly improved, scaling down its costs and upkeep over the past decade. These techniques can scan a persons whole genome as well as the smaller part of the genome that codes for the proteins our bodys cells make, called the exome.

In 2010, for instance, the company Illumina initially offered its whole genome sequencing at $50,000 a person; this year, Veritas dropped the price of its service to only $600 and says it may soon charge as little as $100.

These innovations have led to large-scale research projects that collect genetic data from hundreds of thousands of people at once. Scientists can scour through these large datasets to find new links between our genes, traits, and medical conditions. This research has helped us better understand longstanding questions about our biology and health. Someday soon, genetic sequencing may also help us optimize the existing medical treatments people get, particularly for conditions like cancer.

Right now, though, its still up in the air how useful this info dump really is to the average person looking to stay healthy.

In March, 23andMe debuted (or more accurately, reintroduced) a service that tells people about their genetic risk of type 2 diabetes. Unlike the tests approved by the FDA, it relies on whats known as a polygenic risk score. This adds up the very small contribution of many genetic markers to a particular condition, which combined might be enough to nudge your overall risk upwards.

The trouble is that these markers have little to do with why you get type 2 diabetesyour age or weight play a much bigger role. And even if the test does consider you genetically unlucky (an average risk difference of 5 percent from a typical person), the advice youll get is the same that anyone hoping for a long, healthy life would get: eat more vegetables and exercise more. This test, as well as many of those offered by the hundreds of big and small DNA testing companies on the market, illustrates the uncertainty of personalized consumer genetics.

The bet that companies like 23andMe are making is that they can untangle this mess and translate their results back to people in a way that wont cross the line into deceptive marketing while still convincing their customers they truly matter. Other companies have teamed up with outside labs and doctors to look over customers genes and have hired genetic counselors to go over their results, which might place them on safer legal and medical ground. But it still raises the question of whether people will benefit from the information they get. And because our knowledge of the relationship between genes and health is constantly changing, its very much possible the DNA test you take in 2020 will tell you a totally different story by 2030.

Given how popular at-home DNA testing has become, theres really no sealing the genie back in the bottle. So if you want to get your genetic horoscope read this holiday, dont let me stop you. But its a big decision you should sleep on. After all, once your DNA is out there, theres no going back.

Here is the original post:
Consumer DNA Testing May Be the Biggest Health Scam of the Decade - Gizmodo

Dr Sadaf Farooqi

BRIGHTON, UK The obesity epidemic is not simply the result of changes in the lived environment but a complex interplay between genes and surroundings that has driven people who would have been genetically susceptible but remained thin in previous eras to become obese, says one expert.

This was the argument put forward as part of a debate on whether an individual's body weight is determined by "nature or nurture" at the recent Society for Endocrinology BES Conference 2019 in Brighton, UK.

Before the debate began, Rob Semple, MD, University of Edinburgh, UK, introduced the speakers and polled the audience on their "baseline" views onthe statement: "This house believes that nature not nurture determines our body weight."

The response was 36% "for" the statement (ie, nature) and 64% "against,"which Semple noted suggested that the first speaker, Sadaf Farooqi, MBChB, PhD, "will have her work cut out" to convince the audience that nature is the main driver of obesity.

Farooqui is professor of metabolism and medicine at the University of Cambridge, UK, and was the winner of the 2019 American Diabetes Association Outstanding Scientific Achievement Award.

Farooqi's adversary in the debate was John Wilding, DM, of the University of Liverpool, UK, who Semple described as "similarly formidable."

Farooqi began by saying that the question before the audience is "fundamentally important," and noted that there is plenty of evidence to suggest there is a biological system for regulating body weight.

Experiments have shown that animals and humans maintain a set point for weight that they return to after periods of limited food intake, regardless of how much weight they lose.

Initially, the hypothalamus was found to play a key role in weight regulation, but it was the discovery of leptin that allowed the whole system, with its links to adipose tissue, the pancreas, and the intestines, to be elucidated, she explained.

Work with children then revealed the influence of genetic factors on the body weight "set point."

Identical twins reared apart were found to have a very similar body weight, and adoptive children were shown to have a similar weight to their biologic, rather than adoptive, parents.

Tying these observations to individual or small numbers of genetic variants has, however, proven difficult, beyond the known variants associated with thinness and the rare variants in 15 genes linked to severe obesity.

That is, Farooqi said, until the publication of US research earlier this year testing a polygenic risk predictor involving 2.1 million common variants in more than 300,000 individuals.

The research showed that, across polygenic score deciles, there was a 13-kg gradient in weight and a 25-fold gradient in the risk of severe obesity.

Moreover, another 2019 study, this time by Farooqi's team, revealed some loss of function variants in the melanocortin 4 receptor gene are linked to an increased risk of obesity, type 2 diabetes, and coronary artery disease, and some gain in function variants are linked to a lower risk of obesity and cardiometabolic disorders.

Farooqi believes the reason there is an obesity epidemic is that the physiological system for regulating weight "evolved to stop us starving" but is now faced with "an abundance of food."

The impact of this is all the greater because we live in a "complex food environment," with high sugar and high fat foods that are seen as "very rewarding," as demonstrated on brain scans of people shown pictures of such foods.

Individuals also engage in stress-related eating, which is played out via neural circuits linking the hypothalamus to the limbic system.

She characterized such eating as a "biologically appropriate thing to do because it gives you a rewarding, pleasurable feeling."

She said that, together, this underlines that the "biology of appetite" is a mixture of both innate and learned behaviors.

Farooqi concluded: "I hope I've made the case for you that there is clear, strong, compelling evidence" that weight is regulated by a homeostatic system centered on the hypothalamus, and genetic disorders, tumors, surgery, radiotherapy, and medications can all "perturb" weight regulation.

"In some people, that promotes obesity, in some people it protects them against obesity," she said.

Dr John Wilding

Taking to the podium, Wilding proceeded to present the case for the notion that body weight is determined "by nurture."

He pointed to data from the World Obesity Federation on adult obesity showing that, between the 1960s and 1990s, the prevalence of obesity topped more than 15% in only a few developed countries and no developing nations.

But from 2000 onwards, the situation has completely reversed. At least 15% of the population is obese in most developed countries, rising to over 25% in the United States, Canada, Australia, and the UK, among others. The prevalence of obesity is also rising rapidly in many middle-income countries.

Yet, Wilding pointed out, humanity cannot have evolved genetically to a sufficient extent over that period to account for the change.

He turned to the UK Government's obesity system map, which is a visual representation of the different factors that influence obesity levels.

Although it places physiological energy balance at the heart of the map, and a large part of that is devoted to biologic processes, Wilding highlighted that the visual also places a great degree of emphasis on food production and consumption, societal influences, individual psychology and movement, and the "activity environment."

He also showed data suggesting it is not so much energy and fat intake that is associated with obesity trends as the increase in the number of cars per household and hours spent watching television.

For example, it is estimated that, compared with the 1950s, the average adult now walks, on average, a marathon (approximately 26 miles) less per week, he said.

The Cuban economic crisis of the 1990s also provides an illuminating example, Wilding added.

The sudden end of Soviet subsidies to Cuba led to food shortages, the loss of public and private transport, and the importof 1.5 million bicycles from China.

The subsequent drop in the prevalence of obesity was associated with a reduction in the incidence of diabetes and diabetes-related mortality, with all three increasing substantially once food and transport levels were restored.

Taking a more recent example, Wilding showed longitudinal findings from the HUNT study, which involved almost 119,000 individuals with repeated body mass index (BMI) measurements from 1963, and over 67,000 who were tested for 96 known obesity genes.

The HUNT authors concluded that, although "genetically predisposed people are at greater risk for higher BMI and that genetic predisposition interacts with the obesogenic environment resulting in higher BMI...BMI has increased for both genetically predisposed and nonpredisposed people, implying that the environment remains the main contributor."

Wilding said that, taken together, obesity is "common and increasing almost everywhere," and that the epidemic "is driven by societal change," despite the underlying biology determining an individual's susceptibility.

He ended his pitch to much laughter with a quote by Farooqi from a 2014 review that supports his argument: "Evidence clearly shows that both increases in energy intake and reductions in energy expenditure during physical activity have driven increases in the mean BMI seen in many countries over the past 30years."

Both speakers were then invited back to the podium, allowing Farooqi to respond that, although she did indeed pen that statement in a 2014 review, if one were to look "carefully," the article discussed the last 30 years, and indeed, "our genes haven't changed in that time, but the environment has."

"We agree on that point, and hence my quote," she said, "but what our environment has done is it has unmasked the genetic susceptibility of some individuals, so what we see when we look at the pattern of BMI in the population is that the mean BMI has increased...but also the proportion of people with severe obesity has increased."

She clarified that what this suggests is that, within any population, there are some people who are genetically more susceptible to obesity, so some of those who may not have been obese 30 years ago now are because of the environment.

"It is the environment acting on genetic susceptibility that is contributing to the distribution of BMI," she emphasized.

Wilding again pointed to the HUNT study, which showed that, even in individuals with "thin genes," there has been a rise in mean BMI.

Farooqi said this, in fact, underlines a limitation of that study, which is they only used 96 well-known genetic variants associated with obesity, but the polygenic risk study she highlighted earlier used 2.1 million genetic variants.

Consequently, data from the HUNT study "captures some of the variation but not all," she stressed.

The debate continued, with questions from the floor covering many aspects of obesity.

The final question was directed at Farooqi: "What proportion of somebody's weight is considered to be genetic...as opposed to the nurtured weight?"

She replied this is a "hugely important" question, because "if we don't recognize that theres a biological role for the regulation of weight, how on earth can politicians, with their somewhat different capacity for taking on new information, do that?"

The "evidence suggests around 40% of a person's weight is influenced by genetic factors," she said.

"In some people it's higher, where there are penetrant genes having an effect, in other people it's about 40% with a combination of genes which, added together, influence their risk of either gaining weight or staying thin."

In response, Wilding was keen to stress: "No matter which side of the argument you're on, the point is that this is not the individual's fault."

"It's either a response to their environment...or it's something that they've inherited and don't have individual control over," he noted.

"Sadaf [Farooqi] said it herself, 40% of our body weight is genetic, that means that 60% is environmental, and I rest my case," Wilding said.

However, that did not hold sway with the audience, who, when they voted again at the end of the debate, indicated they had changed their minds: 53% agreed with the statement that nature, not nurture, determines body weight, and 47% disagreed.

A win for the lady, it would seem.

Society for Endocrinology BES 2019. Presented November 11, 2019.

For more diabetes and endocrinology news, follow us on Twitter and Facebook.

Continued here:
Nature vs Nurture: What's Fueling the Obesity Epidemic? - Medscape

DUBLIN--(BUSINESS WIRE)--The "Global Cancer Biomarkers Market Analysis 2019" report has been added to ResearchAndMarkets.com's offering.

The Global Cancer Biomarkers market is expected to reach $37.99 billion by 2026 growing at a CAGR of 14.2% from 2018 to 2026.

Factors such as rise in technological advancements and increase in Incidence of Cancer diseases are driving the market growth. Though, high capital investment and technical issues related to sample collection and storage are projected to inhibit the growth of the market. Moreover, emerging economies and personalized medicine may provide ample opportunities for the market growth.

By biomarker type, protein biomarkers segment acquired significant growth in the market is mainly attributed to the tremendous capability of protein biomarkers in cancer detection, diagnostics, prognostics, and clinical & therapeutic applications; and minimal cost of the protein biomarker tests as contrasted with genetic biomarker tests. The rising focus of pharmaceutical organizations towards the discovery of protein biomarkers is additionally expected to fuel the development of this market during the forecast period.

The key vendors mentioned are Qiagen N.V., Thermo Fisher Scientific, GE Healthcare, Roche Diagnostics, Abbott Laboratories, Illumina, Danaher Corporation, Agilent Technologies, Sysmex Corporation, Merck & Co., Quest Diagnostics, Becton, Dickinson and Company, Hologic, Myriad Genetics, Bio-Rad Laboratories and Biomrieux S.A.

Key Questions Answered in this Report

Key Topics Covered

1 Market Synopsis

2 Research Outline

2.1 Research Snapshot

2.2 Research Methodology

2.3 Research Sources

2.3.1 Primary Research Sources

2.3.2 Secondary Research Sources

3 Market Dynamics

3.1 Drivers

3.2 Restraints

4 Market Environment

4.1 Bargaining power of suppliers

4.2 Bargaining power of buyers

4.3 Threat of substitutes

4.4 Threat of new entrants

4.5 Competitive rivalry

5 Global Cancer Biomarkers Market, By Category

5.1 Introduction

5.2 Cancer Biomakers of Disease

5.3 Cancer Biomakers of Exposure

6 Global Cancer Biomarkers Market, By Method

6.1 Introduction

6.2 Assay Development

6.3 Biomarkers and Testing

6.4 Sample Preparation

7 Global Cancer Biomarkers Market, By Biomarker Type

7.1 Introduction

7.2 Cancer Antigen 15-3 (CA 15-3)

7.3 Cancer Antigen 27-29 (CA27-29)

7.4 Carbohydrate Antigen 19-9 (CA 19-9)

7.5 Carcinoembryonic antigen (CEA)

7.6 Epigenetic Biomarkers

7.7 Genetic Biomarkers

7.8 Glass Transition Temperature (Tg)

7.9 Glyco-biomarkers

7.10 Glycomic Biomakers

7.11 Glycoprotein Biomarkers

7.12 Human Chorionic Gonadotropin (Hcg)

7.13 Human Epidermal Growth Factor Receptor 2 (HER2)

7.14 Human Epididymis Protein 4 (HE4)

7.15 Metabolic Biomakers

7.16 Microsatellite Instability (MSI) / Measles, Mumps and Rubella (MMR)

7.17 Protein Biomarkers

7.18 Proteomic Biomarkers

7.19 Risk of Ovarian Malignancy Algorithm (ROMA)

7.20 Tumor Mutational Burden (TMB)

7.21 Tumor-Infiltrating Lymphocytes (TILs)

8 Global Cancer Biomarkers Market, By Cancer Type

8.1 Introduction

8.2 Bladder Cancer

8.3 Blood Cancer

8.4 Breast Cancer

8.5 Cervical Cancer

8.6 Colorectal Cancer (CRC)

8.7 Kidney Cancer

8.8 Leukemia

8.9 Liver Cancer

8.10 Lung Cancer

8.11 Melanoma

8.12 Non-Hodgkin's Lymphoma

8.13 Ovarian Cancer

8.14 Prostate Cancer

8.15 Stomach Cancer

8.16 Thyroid Cancer

9 Global Cancer Biomarkers Market, By Technology

9.1 Introduction

9.2 Bioinformatics

9.3 Cytogenetics-based Tests

9.4 Imaging Technologies

9.5 Immunoassays

9.6 IVD Multivariate Index Assays

9.7 Omic technologies

10 Global Cancer Biomarkers Market, By Test Type

10.1 Introduction

10.2 Alpha-Fetoprotein (AFP) Tests

10.3 Anaplastic Lymphoma Receptor Tyrosine Kinase Gene (ALK) Tests

10.4 BReast CAncer gene (BRCA) Tests

10.5 Cancer Antigen (CA) Tests

10.6 Carcinoembryonic Antigen (CEA) Tests

10.7 Circulating Tumor Cell (CTC) Tests

10.8 Companion Diagnostic Tests (CDx)

10.9 Estimated Glomerular Filtration Rate (EGFR) Mutation Tests

10.10 Human Epidermal Growth Factor Receptor 2 (HER2) Tests

10.11 Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) Mutation Tests

10.12 Laboratory Developed Tests (LDTs)

10.13 Prostate-specific Antigen (PSA) Tests

11 Global Cancer Biomarkers Market, By Analytical Technique

11.1 Introduction

11.2 Immunohistochemistry (IHC)

11.3 Next Generation Sequencing (NGS)

11.4 Polymerase Chain Reaction (PCR)

12 Global Cancer Biomarkers Market, By Product

12.1 Introduction

Here is the original post:
Global Cancer Biomarkers Market, Forecast to 2026 - Emerging Economies & Personalized Medicine to Provide Ample Industry Opportunities -...

For patients with cutaneous leishmaniasis, a skin infection transmitted by a sand fly that can lead to painful and disfiguring ulcers, treatment can be grueling. The first-line therapy offered to many requires daily infusions of the metalloid pentavalent antimony for three weeks, and half of patients dont respond to just one round of therapy. Some fail two or even three courses. And the side effects of therapy can range from mere irritation to far more serious conditions.

A new study led by School of Veterinary Medicine researchers with scientists from Brazil has identified biomarkers that predict which patients disease will resolve with antimony, and which patients should be offered an alternative therapy from the outset. Using data from leishmaniasis patients treated in Brazil, the researchers found a number of genes whose expression correlated with treatment outcome. They also discovered that a small difference in parasite numbers made a big difference when it came to the patients response.

They published their findings in the journal Science Translational Medicine.

This study is the result of a progression of studies, each building on one another, that is allowing us to take the step from describing the biology of this disease to identifying which patients might need alternative treatments, says Phillip Scott, vice dean of Penn Vet and a co-senior author on the work.

Were moving into the realm of figuring out how to translate this to patients, adds Daniel P. Beiting, co-senior author on the paper and an assistant professor at Penn Vet. If we can quickly and noninvasively monitor the targets we found, it could be important not only for leishmaniasis but potentially also for other skin diseases, like chronic wounds or psoriasisanything where these genes are playing a role.

Scott has been working on leishmaniasis and performing research in Brazil for three decades, identifying the factors that contribute to the diseases pathology. Over the last several years, hes collaborated with Beiting to employ genomic techniques to characterize more features of the disease and to identify potential targets for therapy.

In 2017, the Penn Vet-led team found that chronic disease can arise when the immune systems response to the Leishmania parasite goes awry, leading to persistent inflammation. The findings implicated a type of immune cell known as CD8 T cells. Yet their findings still didnt explain why so many patients fail to respond to the antiparasitic drug antimony.

To answer this question, they used a more open-ended approach to finding patterns in their data, a pretreatment collection of skin biopsies from 21 people with leishmaniasis and seven people without the disease who served as controls.

The challenge of human studies is that there are so many confounding variables, says Beiting. If you say, Im going to compare people who have responded to those who didnt respond, it sometimes doesnt work because in those two groups there are a lot of other variables at play: sex, age, other comorbidities. So, what we did instead was say, If we believe these patients are variable in the way they respond to treatment, why dont we look at what genes are variable?

Narrowing down the many genes they identified in this analysis to focus on the top 250 most variable among patients, they found a subset that correlated with treatment failure. Looking at a second set of data from different patients, they were able to confirm that eight of these genes were able to predict treatment failure in both groups.

And lo and behold, included in that group were some of the genes that we already knew were key players from previous studies in humans and mice, says Beiting, including elements of the CD8 signaling pathway the group had uncovered in 2017.

We also found genes that we hadnt expected but fit into the broad theme of this cytolytic, inflammatory pathway, says Scott.

In previous studies, researchers had notedand been somewhat puzzled bythe fact that skin lesions contained few parasites. The current studied confirmed this, using genetic sequencing methods to identify the presence and quantity of parasites in the patient samples. But their quantitative methods also revealed that, while numbers were low across the board, how low they were mattered.

Very few versus very, very few apparently makes a difference, says Scott. Theres a small but significant cutoff between failure and cure.

As the group gets closer to moving their findings to the clinic, some hurdles remain. They have zeroed in on a few biomarkers, notably the signaling molecule IL-1 and a protein complex known as NLRP3, as ones that could be used in a diagnostic setting to make informed predictions about patient treatment outcomes.

Theyre also working to see whether a less invasive method than a biopsy could give reliable data about a patients disease.

Were laying the foundation for being able to take samples on site and assess them on site, says Beiting, potentially using portable diagnostic devices that could be practical for use in remote clinics like the one the team has collaborated with in Brazil.

And theyre continuing to work in the lab to further study the genes that appear to be important in driving disease.

This latest work, tying in the outcome of treatment, emphasizes how important it would be to block these pathways, Scott says.

Phillip Scott is vice dean for research and academic resources and a professor of microbiology and immunology in the Department of Pathobiology in the University of Pennsylvania School of Veterinary Medicine.

Daniel P. Beiting is an assistant professor in the Department of Pathobiology in the University of Pennsylvania School of Veterinary Medicine.

Scott and Beiting coauthored the study with researchers from Penn Vet, including lead author Camila Farias Amorim, Fernanda O. Novais, Ba Nguyen, and Ana M. Misic, as well as Lucas P. Carvalho and Edgar M. Carvalho of Universidade Federal da Bahia in Brazil.

The study was supported by the National Institutes of Health (grants AI088650 and AI030639) and Penn Vets Center for Host-Microbial Interactions.

See the original post here:
Predicting treatment outcome for leishmaniasis - Penn: Office of University Communications

After reading Christina Adamss new book Camel Crazy: A Quest for Miracles in the Mysterious World of Camels(New World Library), I may have a new favorite animal (sorry, cats and hippos).

Most of us know camels as curiosities at zoos. As beasts of burden highly adapted to hot and dry climates, theyve served the trade routes that helped build civilizations, and may indeed flourish in our increasingly hot and dry world. We value their hide, meat, and especially their milk.

Camels are unusual, biologically speaking. And that may be why their milk can alleviate some aspects of autism.

Camel milk sounds weird to American ears, but camels are a domestic fact of life elsewhere. Although the US classifies them as exotic animals, they actually have early origins here; fossils have been found in Los Angeles. But the true reservoir of knowledge on camels is found in rural cultures and universities in the Middle East, Asia, and Africa, Christina told me.

Got Camel Milk?

In 2005, Christina met a camel at a childrens book fair in Orange County CA. Rather than hauling kids around, the animal was standing near a display of lotions and soaps made with camel milk. When the owner started to tell Christina how the milk is hypoallergenic and helps premature babies in the Middle East, she glanced over at 7-year-old Jonah. Hed already had four years of costly treatments for autism.

Might it help reboot my sons immune system and help his autism symptoms? she recalls thinking, aware of a link to immune dysfunction. Cow milk and cheese made him hand-flap and walk in circles, which he described as feeling like having dirt in my brain. Vegan substitutes like rice, nut, or soy increased his allergic response.

Camel Crazy details Christinas two-year journey to find the milk. Once she started giving it to Jonah, four ounces at a time, mixed in with food like cereal, his behavior changed quickly.

He became calm. Inquisitive. Caring. His language became more emotional and focused. He held his head straight instead of rolling it. Eating became neat, not a mess fest. He dressed himself and began making eye contact. He even got his shoes and backpack on and was calmer in the car going to school.

By the third dose, Jonah was sleeping through the night. He became more fluid, social, and attuned. Within days he could cross the street without me holding on to him. Within weeks his skin grew smoother. The milk also reversed his skin irritation, agitation, mental distraction, hyperactivity, and stomach pain, Christina recalled.

So she did research and spread the word, first in an article Got Camel Milk? that went viral, then in a peer-reviewed case report, Autism Spectrum Disorder Treated With Camel Milk, published in Global Advances in Health and Medicine. After describing Jonahs early difficulties, she wrote on October 10, 2007, two weeks before my sons tenth birthday, he drank his first half cup (4 oz) of thawed raw unheated camel milk. The case report documents Jonahs sustained symptom improvements associated with drinking half a cup a day from 2007 to 2013.

Christina then began traveling the world, giving presentations on camel milk and autism, and consulting with scientists and vets. Camel Crazy details her immersion into the world of camels and cameleers, from Tuareg, Amish and Somali people in America to herders in India, Dubai and Abu Dhabi. She serves on the editorial board of the new International Journal of Camel Science.

I was a beta reader for Camel Crazyand loved it. Being a nerd I searched for the science, and wasnt disappointed. The milk indeed has some startling differences from other milks, yet tastes, Christina says, like cows milk.

Camels drink a lot, pee a little, exhale minimal vapor, have insulating coats, and their red blood cells balloon and shrink as the water content in the bloodstream shifts. Natural selection has favored persistence of these traits that provide adaptation to heat, aridity, and exposure to intense ultraviolet radiation and choking dust. Body temperature ranges from 93.2-104F (3440C).

Being specifically a genetics nerd, I delved deeper into the DNA that encodes the unusual versions of proteins that might explain the magic of camel milk, as well as other details of the physiology. Much of the info below comes from the article Desert to Medicine: A Review of Camel Genomics and Therapeutic Products, from three researchers at United Arab Emirates University.

Fighting an Opioid Released from Casein Breakdown

The first technical paper Christina found was The etiology of autism and camel milk as therapy, from Ben Gurion University researchers Reuven Yagil and Yosef Shabo. Parent reports inspired their work.

They zeroed in on an opiate-like effect. Casein, the most abundant milk protein, breaks down into peptide pieces. And one of them, beta-casomorphin-7, is an opioid. It can slip through the leaky gut of a person with autism and enter the brain. Could an opiate bathing the brain affect social interactions and lack of interest in surroundings?

Other breakdown peptides of casein (-casein and no -lactoglobulin), which are more abundant in cows milk, may spike milk allergies.

Upping Anti-Oxidants

Camel milk delivers potent anti-oxidants that might temper autism symptoms, wrote King Saud University researchers Laila Al-Ayadhi and Nadra Elyass Elamin in a2013 report. People with autism are more sensitive to oxidative stress, which is damage from unstable forms of oxygen called oxygen free radicals.

The researchers measured levels of three anti-oxidants in the blood of 60 kids with autism: superoxide dismutase, myeloperoxidase, and an enzyme needed to make glutathione. Over a two-week period, 24 children drank raw camel milk, 25 drank boiled camel milk, and 11 drank cows milk. The trial was double-blinded and randomized, but it wasnt a crossover, in which each child would have had all three milk experiences. Nevertheless, raw camel milk was superior in anti-oxidant levels and a behavioral rating scale.

Special Tiny Antibodies

Camels share with only their camelid brethren (llamas, alpacas, vicunas, and guanacos) tiny antibodies in milk, called nanobodies. Most antibodies have one or more Y-shaped subunits; a nanobody is one arm of one Y, the variable region that distinguishes species. A student discoveredcamel nanobodies in a lab course at the University of Brussels in 1993, analyzing a dromedarys blood serum. Camels make large antibodies too.

Nanobodies can squeeze into places more bulbous antibodies cannot, vanquishing a wider swath of viruses and bacteria. They look strikingly like monoclonal antibodies, and so have become darlings of pharma, particularly in cancer drug discovery.

A camels streamlined nanobodies arose from a mutation that removed the hinges that connect the Y-shaped arms of more conventional antibodies. Sometimes a mutation is a good thing!

Further infection protection comes from the milk protein lactoferrin, which fights hepatitis C.

Tolerating High Blood Sugar

A camel-herding people in India, the Raika, drink camel milk and dont get diabetes. Thats because camels tolerate high blood glucose levels, and some of that ability seeps into their milk.

P. Agrawal, at the SP Medical College, Bikaner, India and colleagues have conducted clinical trialsthat show that camel milk decreases blood glucose and hemoglobin A1c (a three-month-measure of blood glucose), and, in people with type 1 diabetes, reduces the insulin requirement by up to 30 percent .

How can camels have high blood sugar yet low HbA1C? In most animals, the beta chains of hemoglobin bind glucose at several points, upping HbA1C. This doesnt happen in camels. If glucose binding to hemoglobin in us is like Velcro, then in camels, its like contact between a boot and slippery ice.

Conserving Water

Milk requires water, and camels are masters at conserving it. A self-contained cooling system, as Christina describes it, cycles body water from a camels nostrils to its mouth. The multi-layered eyelids and double row of eyelashes keep out blowing sand. Their unique oval blood cells compress as camels safely dehydrate, then swell up again as they refill with water, keeping their blood flowing in extreme conditions.

Camels dont dry out in the desert, as we would, thanks to variants of the genes that encode the cytochrome P450 (CYP) enzymes. They enable camels to resorb lots of water while tolerating high salt conditions, without their blood pressure spiking. Their kidneys are keenly attuned to taking back water.

Camel milk is also high in the calming neurotransmitter GABA, low in lactose, and has more vitamin C than cows milk.

Beyond Milk

The astonishing adaptations of the camel arent restricted to its milk. Here are a few more that have their roots in the animals genes.

Variations on the Camel Theme

About 94% of the worlds 35 million camels are the domesticated, one-humped dromedaries (Camelus dromedaries) of northern and eastern Africa, the Arabian Peninsula, and southwest Asia. A feral branch lives in Australia. Wild dromedaries are extinct and are in a separate genus, Camelops hesternus. They dwelled in western North America.

About 2 million two-humped domesticated Bactrian (Camelus bactrianus) camels live on the steppes of central Asia, and each weighs about 1,000 pounds. Fewer than 100 wild Bactrian camels remain; they split from a shared ancestor about 700,000 years ago. Today they live in Mongolia and in northwest Chinas Xinjiang Province, in an area that was a nuclear testing site for 45 years. In 2008 the wild Bactrians were designated a distinct species, Camelus ferus.

When bactrian and dromedary camels interbreed, most offspring have one hump, some with a dip in the middle.

Camel Genomics

Camel genomes are remarkably diverse with many mutations, perhaps because people havent controlled their breeding. Doing so is challenging.

The jelly-like consistency of camel semen complicates both freezing and using artificial insemination. Still, researchers from Oman and France recently published a report about possible genetic improvements: selecting for traits that ease of using milking machines, provide resistance to infections, improve racing ability, and enhance beauty. Camels are, after all, gorgeous creatures.

The first camel genome sequence, published in 2012, revealed 20,821 genes splayed out among 37 chromosome pairs. Some 2,730 genes have evolved faster in camels than in their cattle relatives, many involved in carbohydrate and lipid metabolism. Perhaps the unusual variants contribute to the camels ability to conserve water.

Researchers from Kuwait University report in PLOS Onethat they analyzed DNA from the blood, spit, and hair of nine camels, concluding that tail hair follicle DNA is the best tissue source to create a biobank.The International Camel Consortium for Genetic Improvement and Conservation promotes camel genetic conservation.

Bring on the Camel Fro-Yo!

The milk isnt cheap. Camel Milk Cooplists $36.99 for a weeks supply. And as Christinas book explains, theres little to no incentive to conduct a clinical trial or to attempt to replicate natures magical mix of milk ingredients. Camel Crazy includes a users guide and directory of global sources.

The milk is available in liquid, frozen, and powdered form. Camel-milk-containing products include skin cream, cheeses, ice cream pops, chocolate milk, and a delectable-looking sweet called barfi, which means snow in Persian (not vomit).

When will camel milk come to Starbucks?

Read more:
Camel Milk and Autism: Connecting the Genetic Dots | DNA Science Blog - PLoS Blogs