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https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#1
Henry J Martell, Kathie A Wong, Juan F Martin, Ziyan Kassam, Kay Thomas, Mark N Wass
BACKGROUND: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Assessing the effects of each mutation is critical in order to provide tailored treatment options for patients...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28809952/computational-and-experimental-analysis-of-short-peptide-motifs-for-enzyme-inhibition
#2
Jinglin Fu, Luca Larini, Anthony J Cooper, John W Whittaker, Azka Ahmed, Junhao Dong, Minyoung Lee, Ting Zhang
The metabolism of living systems involves many enzymes that play key roles as catalysts and are essential to biological function. Searching ligands with the ability to modulate enzyme activities is central to diagnosis and therapeutics. Peptides represent a promising class of potential enzyme modulators due to the large chemical diversity, and well-established methods for library synthesis. Peptides and their derivatives are found to play critical roles in modulating enzymes and mediating cellular uptakes, which are increasingly valuable in therapeutics...
2017: PloS One
https://www.readbyqxmd.com/read/28807841/racial-disparity-in-gastrointestinal-cancer-risk
#3
REVIEW
Hassan Ashktorab, Sonia S Kupfer, Hassan Brim, John M Carethers
Cancer from the gastrointestinal tract and its associated excretory organs will occur in over 300,000 Americans in 2017, with colorectal cancer responsible for over forty percent of that burden; there will be over 150,000 deaths from this group of cancers in the same time period. Disparities among subgroups related to these cancers' incidence and mortality exist. The epidemiology and risk factors associated with each cancer bear out differences for racial groups in the United States. Esophageal adenocarcinoma is more frequent in Non-Hispanic Whites, whereas esophageal squamous cell carcinoma with risk factors of tobacco and alcohol is more frequent among Blacks...
August 11, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28807365/-the-breakthrough-of-personalized-medicine-new-hopes-and-new-challenges
#4
REVIEW
Ronan Flippot, Christophe Massard, Edouard Auclin, David Azria, Héloïse Bourien, Philippe Rochigneux, Antoine Schernberg, Loïc Verlingue, Lara Zafrani, Stéphane Vignot
The development of personalized medicine in oncology is based on biomarkers that help select populations for more efficient and less toxic therapies. The onset of molecular biology led to new paradigms in drug development, with efficacy data reported in early clinical trials and accelerated approvals. Multiple clinical trials, including SHIVA, SAFIR-01 and MOSCATO-01, have been developed to evaluate the interest of treatment decision-making based on tumor molecular profiling, with the ambition to replace historical clinical and pathological classifications...
August 11, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/28802938/impulse-control-and-related-disorders-in-parkinson-s-disease
#5
Daniel Weintraub, Daniel O Claassen
Impulse control disorders (ICDs), such as compulsive gambling, buying, sexual, and eating behaviors, are a serious and increasingly recognized complication in Parkinson's disease (PD), occurring in up to 20% of PD patients over the course of their illness. Related behaviors include punding (stereotyped, repetitive, purposeless behaviors), dopamine dysregulation syndrome (DDS) (compulsive medication overuse), and hobbyism (e.g., compulsive internet use, artistic endeavors, and writing). These disorders have a significant impact on quality of life and function, strain interpersonal relationships, and worsen caregiver burden, and are associated with significant psychiatric comorbidity...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28801842/precision-medicine-core-progress-in-prognostication-populations-to-patients
#6
EDITORIAL
Carolyn Compton
No abstract text is available yet for this article.
August 11, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28798405/progress-in-genome-wide-association-studies-of-schizophrenia-in-han-chinese-populations
#7
REVIEW
Weihua Yue, Xin Yu, Dai Zhang
Since 2006, genome-wide association studies of schizophrenia have led to the identification of numerous novel risk loci for this disease. However, there remains a geographical imbalance in genome-wide association studies, which to date have primarily focused on Western populations. During the last 6 years, genome-wide association studies in Han Chinese populations have identified both the sharing of susceptible loci across ethnicities and genes unique to Han Chinese populations. Here, we review recent progress in genome-wide association studies of schizophrenia in Han Chinese populations...
August 10, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28798200/wearable-physiological-monitoring-for-human-thermal-work-strain-optimization
#8
Mark J Buller, Alexander Pearson Welles, Karl E Friedl
Safe performance limits of soldiers and athletes have typically relied on predictive work-rest models of ambient conditions, average work intensity, and characteristics of the population. Bioengineering advances in noninvasive sensor technologies including miniaturization, reduced cost, power requirements, and comfort now make it possible to produce individual predictions of safe thermal-work limits. These precision medicine assessments depend on the development of thoughtful algorithms based on physics and physiology...
August 10, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28795174/tissue-chips-innovative-tools-for-drug-development-and-disease-modeling
#9
REVIEW
L A Low, D A Tagle
The high rate of failure during drug development is well-known, however recent advances in tissue engineering and microfabrication have contributed to the development of microphysiological systems (MPS), or 'organs-on-chips' that recapitulate the function of human organs. These 'tissue chips' could be utilized for drug screening and safety testing to potentially transform the early stages of the drug development process. They can also be used to model disease states, providing new tools for the understanding of disease mechanisms and pathologies, and assessing effectiveness of new therapies...
August 10, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28777294/common-genetic-variants-alter-metabolism-and-influence-dietary-choline-requirements
#10
REVIEW
Ariel B Ganz, Kevin C Klatt, Marie A Caudill
Nutrient needs, including those of the essential nutrient choline, are a population wide distribution. Adequate Intake (AI) recommendations for dietary choline (put forth by the National Academies of Medicine to aid individuals and groups in dietary assessment and planning) are grouped to account for the recognized unique needs associated with age, biological sex, and reproductive status (i.e., pregnancy or lactation). Established and emerging evidence supports the notion that common genetic variants are additional factors that substantially influence nutrient requirements...
August 4, 2017: Nutrients
https://www.readbyqxmd.com/read/28774809/towards-diversity-in-genomics-the-emergence-of-neurogenomics-in-africa
#11
Emmanuel Quansah, Nathaniel W McGregor
There is a high burden of mental and neurological disorders in Africa. Nevertheless, there appears to be an under-representation of African ancestry populations in large-scale genomic studies. Here, we evaluated the extent of under-representation of Africans in neurogenomic studies in the GWAS Catalog. We found 569 neurogenomic studies, of which 88.9% were exclusively focused on people with European ancestry and the remaining 11.1% having African ancestry cases included. In terms of population, only 1.2% of the total populations involved in these 569 GWAS studies were of African descent...
August 1, 2017: Genomics
https://www.readbyqxmd.com/read/28765336/new-directions-in-cancer-control-and-population-sciences
#12
Robert A Hiatt
Cancer control science has been evolving since it first became a focus for cancer research and program activities a century ago. The evolution of the field has responded to historical megatrends along the way that keep it relevant to the cancer-related needs of society. This commentary describes some of the key trends and developments now influencing cancer control and population sciences that reflect societal change and new tools and concepts in modern biomedical science. New directions include the impact of climate change, health care delivery research, the growth of population health science, data science, precision medicine, data sharing, implementation science, and new technologies, including social media and new geospatial methodologies...
August 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28763833/deciphering-adipose-tissue-heterogeneity
#13
REVIEW
Matthew D Lynes, Yu-Hua Tseng
Obesity is an excess accumulation of adipose tissue mass, and, together with its sequelae, in particular type II diabetes and metabolic syndrome, obesity presents a major health crisis. Although obesity is simply caused by increased adipose mass, the heterogeneity of adipose tissue in humans means that the response to increased energy balance is highly complex. Individual subjects with similar phenotypes may respond very differently to the same treatments; therefore, obesity may benefit from a personalized precision medicine approach...
August 1, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/28757202/leveraging-multi-ethnic-evidence-for-risk-assessment-of-quantitative-traits-in-minority-populations
#14
Marc A Coram, Huaying Fang, Sophie I Candille, Themistocles L Assimes, Hua Tang
An essential component of precision medicine is the ability to predict an individual's risk of disease based on genetic and non-genetic factors. For complex traits and diseases, assessing the risk due to genetic factors is challenging because it requires knowledge of both the identity of variants that influence the trait and their corresponding allelic effects. Although the set of risk variants and their allelic effects may vary between populations, a large proportion of these variants were identified based on studies in populations of European descent...
August 3, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28756037/value-of-a-national-administrative-database-to-guide-public-decisions-from-the-syst%C3%A3-me-national-d-information-interr%C3%A3-gimes-de-l-assurance-maladie-sniiram-to-the-syst%C3%A3-me-national-des-donn%C3%A3-es-de-sant%C3%A3-snds-in-france
#15
REVIEW
P Tuppin, J Rudant, P Constantinou, C Gastaldi-Ménager, A Rachas, L de Roquefeuil, G Maura, H Caillol, A Tajahmady, J Coste, C Gissot, A Weill, A Fagot-Campagna
In 1999, French legislators asked health insurance funds to develop a système national d'information interrégimes de l'Assurance Maladie (SNIIRAM) [national health insurance information system] in order to more precisely determine and evaluate health care utilization and health care expenditure of beneficiaries. These data, based on almost 66 million inhabitants in 2015, have already been the subject of numerous international publications on various topics: prevalence and incidence of diseases, patient care pathways, health status and health care utilization of specific populations, real-life use of drugs, assessment of adverse effects of drugs or other health care procedures, monitoring of national health insurance expenditure, etc...
July 26, 2017: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/28751153/ccr5-edited-gene-therapies-for-hiv-cure-closing-the-door-to-viral-entry
#16
REVIEW
Kevin G Haworth, Christopher W Peterson, Hans-Peter Kiem
Human immunodeficiency virus (HIV) was first reported and characterized more than three decades ago. Once thought of as a death sentence, HIV infection has become a chronically manageable disease. However, it is estimated that a staggering 0.8% of the world's population is infected with HIV, with more than 1 million deaths reported in 2015 alone. Despite the development of effective anti-retroviral drugs, a permanent cure has only been documented in one patient to date. In 2007, an HIV-positive patient received a bone marrow transplant to treat his leukemia from an individual who was homozygous for a mutation in the CCR5 gene...
July 24, 2017: Cytotherapy
https://www.readbyqxmd.com/read/28749054/the-precision-medicine-nation
#17
Maya Sabatello, Paul S Appelbaum
The United States' ambitious Precision Medicine Initiative proposes to accelerate exponentially the adoption of precision medicine, an approach to health care that tailors disease diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. It aims to achieve this by creating a cohort of volunteers for precision medicine research, accelerating biomedical research innovation, and adopting policies geared toward patients' empowerment. As strategies to implement the PMI are formulated, critical consideration of the initiative's ethical and sociopolitical dimensions is needed...
July 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28747168/the-biobank-for-the-molecular-classification-of-kidney-disease-research-translation-and-precision-medicine-in-nephrology
#18
Daniel A Muruve, Michelle C Mann, Kevin Chapman, Josee F Wong, Pietro Ravani, Stacey A Page, Hallgrimur Benediktsson
BACKGROUND: Advances in technology and the ability to interrogate disease pathogenesis using systems biology approaches are exploding. As exemplified by the substantial progress in the personalized diagnosis and treatment of cancer, the application of systems biology to enable precision medicine in other disciplines such as Nephrology is well underway. Infrastructure that permits the integration of clinical data, patient biospecimens and advanced technologies is required for institutions to contribute to, and benefit from research in molecular disease classification and to devise specific and patient-oriented treatments...
July 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28746312/sequencing-and-de-novo-assembly-of-150-genomes-from-denmark-as-a-population-reference
#19
Lasse Maretty, Jacob Malte Jensen, Bent Petersen, Jonas Andreas Sibbesen, Siyang Liu, Palle Villesen, Laurits Skov, Kirstine Belling, Christian Theil Have, Jose M G Izarzugaza, Marie Grosjean, Jette Bork-Jensen, Jakob Grove, Thomas D Als, Shujia Huang, Yuqi Chang, Ruiqi Xu, Weijian Ye, Junhua Rao, Xiaosen Guo, Jihua Sun, Hongzhi Cao, Chen Ye, Johan van Beusekom, Thomas Espeseth, Esben Flindt, Rune M Friborg, Anders E Halager, Stephanie Le Hellard, Christina M Hultman, Francesco Lescai, Shengting Li, Ole Lund, Peter Løngren, Thomas Mailund, Maria Luisa Matey-Hernandez, Ole Mors, Christian N S Pedersen, Thomas Sicheritz-Pontén, Patrick Sullivan, Ali Syed, David Westergaard, Rachita Yadav, Ning Li, Xun Xu, Torben Hansen, Anders Krogh, Lars Bolund, Thorkild I A Sørensen, Oluf Pedersen, Ramneek Gupta, Simon Rasmussen, Søren Besenbacher, Anders D Børglum, Jun Wang, Hans Eiberg, Karsten Kristiansen, Søren Brunak, Mikkel Heide Schierup
Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly is needed. Here we show that it is possible to construct excellent de novo assemblies from high-coverage sequencing with mate-pair libraries extending up to 20 kilobases...
July 26, 2017: Nature
https://www.readbyqxmd.com/read/28745447/commentary-perspectives-on-alcohol-related-gene-and-environment-interplay-in-diverse-populations
#20
Marcia S Scott
BACKGROUND AND OBJECTIVES: Racial/ethnic groups comprise more than 20% of the U.S. population, but many experience disproportionately high risk for alcohol misuse, often resulting in higher rates of alcohol-associated consequences. Completion of mapping the human genome has launched rapidly evolving research methods aimed at improved understanding of genetic contribution to disease. Despite decades of research on the influence of genetic and environmental risks on alcohol use disorders and outcomes, few studies have included racial/ethnic subpopulations in sufficient numbers to allow for proper statistical analysis...
August 2017: American Journal on Addictions
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