Northern Trust uses blockchain for private equity record-keeping
NEW YORK, Feb 22 Northern Trust Corp has deployed a new blockchain-based system built with International Business Machines Corp to record information on transactions involving private equity funds, in one of the first commercial deployments of the nascent technology.
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BRIEF-DE Shaw reports 5 pct passive stake in Myriad Genetics - Reuters
Lincoln Northeast Kiwanian Dick Earl, who recently passed away at the age of 95, managed a hatchery in Lincoln. He thought learning about embryology would be a great educational tool for kids and helped start the program in 1975. Dick worked with the Lancaster County Extension Service to get this program started. Lincoln third graders have benefited from Embryology in their classroom for over 40 years.
What started out in three classrooms at one school has turned into every third-grade classroom in the Lincoln Public School system as well as Waverly, Norris and many parochial schools.
Embryology has been a part of the core (required) science curriculum in LPS since 1993. Students learn about embryonic development and the life cycle during the 21-day incubation process of chicken eggs. They care for the eggs, witness the hatching process and then care for the baby chicks for 23 days. Last spring, 3,513 third graders from 165 classrooms and 54 schools participated during three sessions. Last fall, a new session added four new schools and 137 students in home schools.
This year, Embryology plans to increase to 186 classrooms. Each classroom receives one dozen fertilized chicken eggs. Students turn the eggs three times a day and provide water for humidity in the incubators.
After seven days of incubation, Extension staff candle the eggs with the students. By candling (shining a bright light) on the eggs, students can see if the eggs are developing (viable), have stopped developing (died), or were never fertile.
This is an exciting time for students and teachers with much anticipation of what they will see. For many students, this is the first time they have experienced seeing a developing embryo and for many, it is the first time theyve experienced life and death. Students are also learning respect for living creatures.
Because the program grew so much, a partnership was formed with a hatchery in Iowa which donates nearly 200 dozen eggs per year. Kiwanis club members from Lincoln Northeast drive 200 miles to Spencer, Iowa, three times a year to get the eggs so we can keep Dick Earl's dream alive for thousands of third graders each year.
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Embryology program started by Lincoln Northeast Kiwanis Club - Lincoln Journal Star
February 21, 2017 Dr. Ping-Hung Chen, Dr. Sandra Schmid, Dr. Marcel Mettlen and other research team members determined that aggressive cancer cells adapt nerve cell mechanisms to maintain or squelch signals needed to survive and grow. Credit: UT Southwestern
How we think and fall in love are controlled by lightning-fast electrochemical signals across synapses, the dynamic spaces between nerve cells. Until now, nobody knew that cancer cells can repurpose tools of neuronal communication to fuel aggressive tumor growth and spread.
UTSouthwestern Medical Center researchers report those findings in two recent studies, one in the Proceedings of the National Academy of Sciences (PNAS) and the second in Developmental Cell
"Many properties of aggressive cancer growth are driven by altered cell signaling," said Dr. Sandra Schmid, senior author of both papers and Chair of Cell Biology at UTSouthwestern. "We found that cancer cells are taking a page from the neuron's signaling playbook to maintain certain beneficial signals and to squelch signals that would harm the cancer cells."
The two studies find that dynamin1 (Dyn1) - a protein once thought to be present only in nerve cells of the brain and spinal cord - is also found in aggressive cancer cells. In nerve cells, or neurons, Dyn1 helps sustain neural transmission by causing rapid endocytosis - the uptake of signaling molecules and receptors into the cell - and their recycling back to the cell surface. These processes ensure that the neurons keep healthy supplies at the ready to refire in rapid succession and also help to amplify or suppress important nerve signals as necessary, Dr. Schmid explained.
"This role is what the cancer cells have figured out. Aggressive cancer cells have usurped the mechanisms that neurons use for the rapid uptake and recycling of neural transmitters. Instead of neural transmitters, the cancer cells use Dyn1 for rapid uptake and recycling of EGF (epidermal growth factor) receptors. Mutations in EGF receptors are drivers of breast and lung cancers," she said of the Developmental Cell study.
In order to thrive, cancer cells must multiply faster than nearby noncancerous cells. EGF receptors help them do that, she explained.
Cancer cell survival is another factor in disease progression. In the PNAS study, the Schmid lab found that aggressive cancer cells appear to have adapted neuronal mechanisms to thwart a key cancer-killing pathway triggered by activating "death receptors" (DRs) on cancer cells. Specifically, aggressive cancer cells appear to have adapted ways to selectively activate Dyn1 to suppress DR signaling that usually leads to cancer cell death.
"It is amazing that the aggressive cancers use a signaling pathway to increase the activity of EGF and also turn on Dyn1 pathways to suppress cancer death - so you have this vicious circle," said Dr. Schmid, who holds the Cecil H. Green Distinguished Chair in Cellular and Molecular Biology.
She stressed that less aggressive cancers respond to forms of chemotherapy that repress EGF signaling and/or die in response to the TRAIL-DR pathway. However, aggressive lung and breast cancer cells have adapted ways to commandeer the neuronal mechanisms identified in these studies.
The hope is that this research will someday lead to improved strategies to fight the most aggressive cancers, she said. Currently, her laboratory is conducting research to identify Dyn1 inhibitors as potential anticancer drugs using a 280,000-compound library in a shared facility at UTSouthwestern.
"Cancer is a disease of cell biology. To grow, spread, and survive, cancer cells modify normal cellular behavior to their advantage. They can't reinvent the underlying mechanisms, but can adapt them. In these studies, we find that some cancer cells repurpose tools that neurons use in order to get a competitive advantage over nearby normal cells," she said.
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Protein once thought exclusive to neurons helps some cancers grow, spread, defy death - Medical Xpress
You know her as Dr. Stephanie Edwards from Grey's Anatomy, but what's Jerrika Hinton like IRL? Here, the actress takes our Cosmo Quiz and gives you a glimpse into who she is when she's not in scrubs. Spoiler: She's pretty hilarious.
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Video: Grey's Anatomy Star Jerrika Hinton Shows Off Her Hidden Talent - Cosmopolitan.com
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In the United States alone, 38 million people start their day by eagerly fastening a device to their wrist that is not worn for the purpose of fashion or keeping time. It is a fitness tracker and these little gadgets have swept the nation. Why? Because people love having instant access to their performance, activities and goals. They enjoy tracking their progress throughout the day. They are addicted to the gratifying notifications of success, and the social aspects of competing with friends, family members, and coworkers.
The fitness tracker market has achieved tremendous success by providing its consumers with relevant data and motivating incentives. They are successfully inspiring the world to be more active by leveraging principles from both data science and behavioral science.
For centuries, traditional economic theory dictated that humans make logical, self-interested decisions, always choosing the most favorable conditions. However, reality often demonstrates otherwise.
Every January, how many people do you know say that they want to resolve to save more, spend less, eat better, or exercise more? These admirable goals are often proclaimed with the best of intentions, but are rarely achieved. If people were purely logical, we would all be the healthiest versions of ourselves.
However, the truth is that humans are not 100% rational; we are emotional creatures that are not always predictable. Behavioral economics evolved from this recognition of human irrationality. Behavioral economics is a method of economic analysis that applies psychological insights into human behavior to explain economic decision-making.
Essentially, it is the intersection between economics and behavioral psychology. Behavioral economics helps us understand why only one-third of Americans floss daily, why most peoples expensive home treadmills turn into overpriced coat racks, and why motivating humans is more complicated than ever before.
Traditional economic theory does not address human irrationality
Human behavior can be seen as the byproduct of millions of years of evolution. With a nature forged from hunger, anxiety and fear, it is no wonder the behaviors of modern man can often be irrational driven by forces like peer pressure, availability bias and emotional exhaustion. To change human behavior, we must embrace our human nature, instead of fight it. And one of the most powerful tools to help enable change is data.
Data science is the discipline that allows us to analyze the unseen and with machine learning, it allows us to look at large sets of data and surface patterns, identifying when past performance is indicative of future results. For instance, it lets us forecast what products are most likely to be sold and which customers are most likely to buy. But what if you not only want to understand potential outcomes, what if you want to completely change outcomes, and more specifically, what if you want to change the way in which people behave? Behavioral economics tells us that to make a fundamental change in behavior that will affect the long-term outcome of a process, we must insert an inflection point. What is the best method to create an inflection point or get someone to do something they would not ordinarily do? Incentives.
As an example, you are a sales rep and two years ago your revenue was $1million. Last year it was $1.1 million, and this year you expect $1.2 million in sales. The trend is clear, and your growth has been linear and predictable. However, there is a change in company leadership and your management has increased your quota to $2 million for next year. What is going to motivate you to almost double your revenues? The difference between expectations ($2 million) and reality ($1.2 million) is often referred to as the behavioral gap (see chart below).
When the behavioral gap is significant, an inflection point is needed to close that gap. The right incentive can initiate an inflection point and influence a change in behavior. Perhaps that incentive is an added bonus, Presidents Club eligibility, a promotion, etc.
The behavior gap depicted above represents the difference between raised expectations (management increasing quota) and the trajectory of current sales performance.
In the US, studies from Harvard Business Review and other industry publications posit that companies spend over one trillion dollars annually on incentives. That number is four times the money spent on advertising in the US annually. What that means is that, as a nation, we are deeply invested in incenting people to act in ways that are somewhat contrary to how they would normally act, if left to their own devices. Incentives appear in many forms such as commissions and bonuses for sales personnel and channel sellers, rebate payments and marketing incentives for partners and customers, and promotions, discounts and coupons for end consumers.
Incentives are most effective when they are intelligent, or data driven. Deloitte University Press published a report stating that when it comes to the relationship between data science and behavioral science, it is reasonable to anticipate better results when the two approaches are treated as complementary and applied in tandem. Behavioral science principles should be part of the data scientists toolkit, and vice versa.
Data scientists work with product and sales teams, employing data and patterns to manage incentive programs. Using forecast modeling and behavior mechanics, teams can plot out the path from one goal to the next and analyze and implement proper incentives.
As an example, lets say your company is a furniture manufacturer that uses a CPQ tool to manage its complex quoting and pricing processes. One of the major reasons your company invested in the CPQ solution was to curb chronic, costly discounting by the sales team.
You are a new sales rep using CPQ to build a quote. What if, mid-quote, your system alerts you that the discount you entered, while within the approved range, may not be ideal. Machine learning ran in the background and identified a different discount used by the top 10% of reps that has had more success. Additionally, you learn that if you choose the prescribed discount, you will earn 40% more commission! Talk about a relevant incentive, based on powerful data.
In a real-world implementation, one Quote-to-Cash customer lets call them Company X who links websites with advertisers, needed to be able to better forecast the potential revenue for each deal. The nature of the business does not allow Company X to recognize revenue until a user clicks on an ad. They harnessed machine learning to understand past behavior, used behavioral science to influence future behavior, and implemented A/B testing (comparing two versions of a web page to see which performs better) on incentive effectiveness programs. The A/B testing data allowed Company X to understand the effectiveness of certain incentives to guide customer behavior.
When applied together, data science and behavioral economics provide powerful business results by collecting relevant, timely insight and defining incentives that align human behaviors with organizational goals.
About the author: Sarah Van Caster is a Data Analyst at Apttus and Lead Strategist for Incentives. She has decade of experience in high-tech, communications and logistics industries and she enjoys designing innovative, customer-focused content and solutions. Sarah has degrees from the University of Wisconsin and Drake University.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.
In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.
Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and ixxxxxx nheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, and mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.
In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.
Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.
In the United States, physicians who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]
Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.
Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.
Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.
Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.
There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.
Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.
Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.
Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.
The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:
Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. Increasingly, clinicians use SimulConsult, paired with the National Library of Medicine Gene Review articles, to narrow the list of hypotheses (known as the differential diagnosis) and identify the tests that are relevant for a particular patient. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.
Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:
Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:
Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no "cure" for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.
In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:
Compound "A" is metabolized to "B" by enzyme "X", compound "B" is metabolized to "C" by enzyme "Y", and compound "C" is metabolized to "D" by enzyme "Z". If enzyme "Z" is missing, compound "D" will be missing, while compounds "A", "B", and "C" will build up. The pathogenesis of this particular condition could result from lack of compound "D", if it is critical for some cellular function, or from toxicity due to excess "A", "B", and/or "C". Treatment of the metabolic disorder could be achieved through dietary supplementation of compound "D" and dietary restriction of compounds "A", "B", and/or "C" or by treatment with a medication that promoted disposal of excess "A", "B", or "C". Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme.
Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.
Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.
Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.
There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. It should be noted that the information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US Practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.
Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a "snapshot" of an individual's health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.
On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[3][4][5][6] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[7][8][9] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[10] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[11]
The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.
Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.
The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing
Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.
Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[12][13][14] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[15] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[16] However, the generality of the model has not yet been established and, in some cases, is in doubt.[13][17][18] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[19]
Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[20][21] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[19][22] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.
The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[17][23][24][25] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[26]
One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[27] although the magnitude of this problem in genetic association studies is subject to debate.[28][29] Various methods have been developed to detect and account for population substructure,[30][31] but these methods can be difficult to apply in practice.[32]
Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[33][34][35][36] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[37][38]
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Medical genetics - Wikipedia
ALISO VIEJO, Calif.--(BUSINESS WIRE)--
Ambry Genetics (Ambry) has created an online portal to enable more patients and families to participate in research through the AmbryShare program. With this simplified portal, Ambry has streamlined the research consent process to make cohort recruitment easier for clinicians at the time of sample collection for clinical testing.
Patients now have the flexibility to e-consent from home, or a mobile device during their office visits. An individual can also enroll themselves and submit a sample to the program independently, whether or not their clinician orders a clinical test at Ambry.
The new e-consent portal is one more example of the companys mission to use AmbryShare to remove the red-tape that has been slowing down scientific progress.
The data-sharing program is currently focused on the genomics of autism and prostate cancer, and Ambry is actively seeking research partners for those initiatives.
We've created a simple way for patients to participate in crowd-sourced research, said Brigette Tippin Davis, PhD, Ambrys Director of Emerging Genetic Medicine. If your family is impacted by disease, we are empowering you to make a real difference. AmbryShare freely enables researchers worldwide to put your de-identified genomic DNA to work to find treatments, keeping your privacy protected at the same time.
Since March 2016, Ambry has provided researchers with de-identified aggregated data from whole exome sequencing on a large cohort of affected patients with the intention of aiding and accelerating scientific research at no cost to the public. This data will ultimately help clinicians create more tailored treatments through enhanced understanding of human disease.
For more information and to enroll in AmbryShare, visit the AmbryShare portal here.
ABOUT AMBRY GENETICS
Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit http://www.ambrygen.com.
View source version on businesswire.com: http://www.businesswire.com/news/home/20170221005495/en/
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Ambry Genetics Launches New Site for Cohort Recruitment - Yahoo Finance
According to an international team of researchers led by University College London and Kings College London, the discovery of a molecular switch that causes the mucosal inflammatory diseases ulcerative colitis, Crohns disease, and celiac disease, could lead to effective new treatments for these autoimmune conditions. The discovery is reported in the journal PLoS Genetics.
According to Soderquest et al, T-bet plays an important role in coordinating the bodys immune responses. Image credit: Werbe Fabrik.
For the first time, researchers have a specific target for the treatment of these life-changing conditions by identifying an immune molecule called T-bet (TBX21) as the key control point that regulates the genetic risk in specific diseases.
Our research outlines a specific focus for the development of new treatments for these diseases which have such a profound effect on sufferers, explained Kings College London Professor Graham Lord, co-senior author on the study.
In the study, Prof. Lord and his colleagues examined how genetic variation affects T-bet binding to DNA, as a key regulatory mechanism in the immune response.
Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) that may be causative for autoimmune diseases, the researchers said.
The majority of these polymorphisms are located within non-coding distal regulatory elements.
It is considered that these genetic variants contribute to disease by altering the binding of regulatory proteins and thus gene expression, but whether these variants alter the binding of lineage-specifying transcription factors has not been determined.
The researchers found that T-bet binding sites are specifically enriched in genetic variants associated with the mucosal autoinflammatory diseases.
They also identified genetic variants that alter T-bet binding and gene expression.
We show that SNPs associated with the mucosal inflammatory diseases Crohns disease, ulcerative colitis and celiac disease, but not rheumatoid arthritis or psoriasis, are enriched at T-bet binding sites, the authors said.
Furthermore, we identify disease-associated variants that alter T-bet binding in vitro and in vivo.
Our results suggest that genetic polymorphisms may predispose individuals to mucosal autoimmune disease through alterations in T-bet binding, they said.
Other disease-associated variants may similarly act by modulating the binding of lineage-specifying transcription factors in a tissue-selective and disease-specific manner.
_____
K. Soderquest et al. 2017. Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease. PLoS Genet 13 (2): e1006587; doi: 10.1371/journal.pgen.1006587
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'Molecular Switch' that Causes Mucosal Autoimmune Diseases Discovered - Sci-News.com
February 21, 2017 What are they going to be? Hematopoietic stem cells under the microscope: New methods are helping the Helmholtz scientists to predict how they will develop. Credit: Helmholtz Zentrum Mnchen
Autonomous driving, automatic speech recognition, and the game Go: Deep Learning is generating more and more public awareness. Scientists at the Helmholtz Zentrum Mnchen and their partners at ETH Zurich and the Technical University of Munich (TUM) have now used it to determine the development of hematopoietic stem cells in advance. In 'Nature Methods' they describe how their software predicts the future cell type based on microscopy images.
Today, cell biology is no longer limited to static states but also attempts to understand the dynamic development of cell populations. One example is the generation of different types of blood cells from their precursors, the hematopoietic stem cells. "A hematopoietic stem cell's decision to become a certain cell type cannot be observed. At this time, it is only possible to verify the decision retrospectively with cell surface markers," explains Dr. Carsten Marr, head of the Quantitative Single Cell Dynamics Research Group at the Helmholtz Zentrum Mnchen's Institute of Computational Biology (ICB).
He and his team have now developed an algorithm that can predict the decision in advance. So-called Deep Learning is the key. "Deep Neural Networks play a major role in our method," says Marr. "Our algorithm classifies light microscopic images and videos of individual cells by comparing these data with past experience from the development of such cells. In this way, the algorithm 'learns' how certain cells behave."
Three generations earlier than standard methods
Specifically, the researchers examined hematopoietic stem cells that were filmed under the microscope in the lab of Timm Schroeder at ETH Zurich. Using the information on appearance and speed, the software was able to 'memorize' the corresponding behaviour patterns and then make its prediction. "Compared to conventional methods, such as fluorescent antibodies against certain surface proteins, we know how the cells will decide three cell generations earlier," reports ICB scientist Dr. Felix Buggenthin, joint first author of the study together with Dr. Florian Bttner.
But what is the benefit of this look into the future? As study leader Marr explains, "Since we now know which cells will develop in which way, we can isolate them earlier than before and examine how they differ at a molecular level. We want to use this information to understand how the choices are made for particular developmental traits."
In the future, the focus will expand beyond hematopoietic stem cells. "We are using Deep Learning for very different problems with sufficiently large data records," explains Prof. Dr. Dr. Fabian Theis, ICB director and holder of the Mathematical Modelling of Biological Systems Chair at the TUM, who led the study together with Carsten Marr. "For example, we use very similar algorithms to analyse disease-associated patterns in the genome and identify biomarkers in clinical cell screens."
Explore further: Enough is enoughstem cell factor Nanog knows when to slow down
More information: Buggenthin, F. et al. (2017): Prospective identification of hematopoietic lineage choice by deep learning. Nature Methods, DOI: 10.1038/nmeth.4182
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Deep learning predicts hematopoietic stem cell development - Phys.Org
"Grey's Anatomy" Season 13 finally has some semi-good news for Meredith Grey (Ellen Pompeo). ABC's scoop on Episode 15, "Civil War" sounds especially promising for fans who 1) want Meredith to get back in the hospital game after her suspension, and 2) want to see more of Meredith and Alex Karev (Justin Chambers). It's possible Mer and Alex may even get to work at the hospital at the same time again!
ABC just released details -- although not yet photos -- on "Civil War," and this time it doesn't sound like Eliza Minnick (Marika Dominiczyk) is the main focus of the war. Instead, there are multiple battlefronts, including a work (and love?) triangle between Meredith, Alex, and Nathan Riggs (Martin Henderson).
Here's ABC's tease for "Civil War," which airs Thursday, March 9:
"Richard, Jackson, April and Catherine tackle a grueling trauma case intensified by hospital politics. Amelia finally faces her feelings about Owen, and Meredith gets caught between Nathan and Alex over a patient."
Obvious question: Who gets to be Iron Man in this "Civil War"? On a slightly more serious note, it's good to see Amelia (Caterina Scorsone) might actually start talking to her own husband again. The rest of the episode sounds tense, but tense can be good (when it's not infuriating).
At this point, Episode 14 has yet to air. Here's the ABC synopsis for this Thursday's February 23 episode, called "Back Where You Belong":
"Alex returns to the hospital and discovers a lot has changed since he left. Meanwhile, Jo has to make a difficult decision on a case, and Arizona tries to distance herself from Eliza."
Here's that promo:Based on ABC's photos for this episode (including the shot above), it looks like Riggs and Maggie (Kelly McCreary) will be spending a lot of time together. Maybe they'll bond?
In case you're wondering about the week gap between Feb. 23's Episode 14 and March 9's Episode 15, it's because "When We Rise: The People Behind the Story" is airing from 8 to 9 p.m. on Thursday, March 2, before "When We Rise" airs from 9 to 11 p.m. There's no "Grey's" that week.
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'Grey's Anatomy': Meredith Gets Caught Between Alex & Riggs in 'Civil War' - Moviefone