Clinically genetic research. Medical search. Frequent questions

Molecular genetic testing is clinically available. (wikipedia.org)
Other therapies are in development and the genetic testing is clinically available. (blackradionetwork.com)

Members of Clinical Neuropathology run and support active translational research programs mainly for pediatric brain tumors, and also include epilepsy, neuromuscular disease, and developmental biology of the nervous system. (chop.edu)
Recombinant adeno-associated virus (rAAV) gene therapy has a broad clinical impact on improving patient outcomes for various genetic diseases, including the three FDA-approved AAV-drugs: Luxturna (treatment for Leber congenital amaurosis), Zolgensma (treatment for spinal muscular atrophy), and recently Hemgenix (treatment for Hemophilia B) 1 . (nature.com)
The aim of this study is to explore the clinical utility and cost-effectiveness of genomic testing within a national cohort of patients with suspected genetic kidney disease who attend multidisciplinary renal genetics clinics. (bmj.com)
Taking advantage of Mayo Clinic's multidisciplinary Early-Onset Parkinson's Disease Clinic , led by Dr. Savica, the Early-Onset Parkinson's Disease and Synucleinopathies Lab strives to translate research findings into improved clinical care for patients at Mayo Clinic and for the population at large. (mayo.edu)
His work focuses largely on the epidemiologic and genetic pre-motor risk factors and the clinical features of Parkinson's disease. (mayo.edu)
Sensorion (Paris:ALSEN) (FR0012596468 - ALSEN) a pioneering clinical-stage biotechnology company which specializes in the development of novel therapies to restore, treat and prevent within the field of hearing loss disorders, announced today that it will host a key opinion leader (KOL) call on genetic hearing loss in children on Wednesday, December 2, 2020 at 8:00am Eastern Time. (biospace.com)
The aim of this study was to evaluate the potential utility of genetic diagnosis in clinical management of families with hypertrophic cardiomyopathy (HCM) caused by mutations in the gene for cardiac troponin I (TNNI3). (nih.gov)
The team has reported that with just two teaspoons of raw sewage, they can accurately determine the genetic mixture of SARS-CoV-2 variants present within a population and identify new variants of concern up to 14 days before traditional clinical testing. (eurekalert.org)
In a lot of places, standard clinical surveillance for new variants of concern is not only slow but extremely cost-prohibitive," says Kristian Andersen, PhD, professor of Immunology and Microbiology at Scripps Research and a senior author of the new work. (eurekalert.org)
When the researchers applied Freyja to their wastewater samples and compared the results to clinical data collected from around San Diego by SEARCH, they discovered that the tool detected variants of concern, including Alpha, Delta, and Omicron, in wastewater up to 14 days before it was reported clinically. (eurekalert.org)
When curated for clinical significance, Mastermind identified more than 4.9-fold more pathogenic genetic variants than ClinVar for representative genes and demonstrated a 4.0- to 43.9-fold increase in references for specific Copy Number Variations (CNVs) compared to PubMed, as well as 5.4-fold more fusion genes when compared with COSMIC's curated database. (prweb.com)
Taken together, the results shown in the study demonstrate the utility and superiority of Mastermind in terms of both sensitivity and specificity of automated results for clinical diagnostic variant interpretation for multiple genetic variant types, and highlight the potential benefit in informing pharmaceutical research. (prweb.com)
I supervise undergraduate, masters and PhD students within the Wolfson Childhood Cancer Research Centre, as well as providing clinical teaching for medical students within the Great North Children's Hospital. (ncl.ac.uk)
I have contributed a chapter on clinical research to the recently published MRCPCH Science of Paediatrics Mastercourse book for candidates of the Royal College of Paediatrics and Child Health membership exam. (ncl.ac.uk)
This shows not only that the use of stem cell research in the clinical treatment of childlessness is unrealistic but also that clinics should focus on using the eggs that women have had since birth in treating infertility," says Professor Kui Liu. (sciencedaily.com)
Genetic and clinical data would be collected during a trial, but a code linking patients with their samples would be destroyed after the trial so they could not be matched subsequently. (nuffieldbioethics.org)
Federal laws and regulations pertaining to the return of individual research results include those focused on oversight of laboratories that conduct testing for clinical care, the oversight of investigational devices, the protection of human participants in research, privacy protections, and anti-discrimination protections. (nationalacademies.org)
Zhe Han, Ph.D. , Center for Cancer and Immunology Research , and his team of researchers studied nephrotic syndrome (NS) associated genes in the Drosophila model, which included seven genes that had never been analyzed in a pre-clinical model. (childrensnational.org)
Key international collaborations include Johns Hopkins University, Mayo Clinic and University of Louvain, with a research highlight demonstrating a long-term survival benefit in orthotopic brain tumour models when combined chemotherapeutics are delivered at neurosurgery via a biodegradable paste ( Clinical Cancer Research 25 (16): 5094-5106, 2019). (nottingham.ac.uk)
Learn about how to participate in clinical trials or research studies here at Columbia Psychiatry. (columbiapsychiatry.org)
According to the authors of an invited article in Annual Review of Clinical Psychology , an urgent research goal for major depressive disorder (MDD) should be to advance understanding of the variable lifetime course of the disorder and to determine how to best predict whether someone will follow a clinical trajectory of recurrent or nonrecurrent depression. (medpagetoday.com)
Research on predicting which individuals will experience MDD recurrence needs to start with the initial clinical episode of major depression, before multiple episodes occur, since recurrences and corresponding treatments confound comparisons. (medpagetoday.com)
Our faculty conducts clinical, translational and basic research that helps clinicians increase drug efficacy and reduce toxicity by optimizing drug selection and individualizing drug dosing. (cincinnatichildrens.org)
Research interests include pharmacogenetics, population pharmacokinetic-pharmacodynamic (PK / PD) analysis and modeling (pharmacometrics), as well as clinical trial design and simulation. (cincinnatichildrens.org)
Response to Open Peer Commentaries on "Disclosing Individual Genetic Results to Research Participants": Defining Clinical Utility And Revisiting the Role of Relationships. (philpapers.org)
Liquid biopsies, genetic biomarkers guiding immunotherapy approaches and clinically exploitable genetic themes that are shared by many cancer types, such as DNA repair deficiency, are currently the most exciting and promising areas for diagnostic applications and will keep us busy in assay development, daily diagnostics, and clinical trials. (scientific-computing.com)
It is characterised by its pursuit of developing innovative methods in diagnosis and treatment, while its clinical research arm has long been an early adopter of leading technology. (scientific-computing.com)
With an ever increasing number of drugs coming to market, scalable detection of clinically relevant biomarkers that enable targeted therapies and the use of agents modulating the immune system will be the key for successful implementation of precision oncology,' said Joydeep Goswami, president of clinical next-generation sequencing and oncology for Thermo Fisher Scientific. (scientific-computing.com)
They reviewed clinical and genetic features in 34 cases of late-onset Huntington disease. (medscape.com)
Our research has contributed to the understanding of inherited susceptibility to multiple myeloma, the identification of the gene behind the Vel-blood group and a diagnostic tool for the blood group used in clinical practice. (lu.se)
In the first, new and clinically important genetic changes are identified prospectively in acute leukemia using integrative sequencing and key findings are translated into improved clinical decision making. (lu.se)
Our research group collaborates with several international and national research groups, including clinical departments at the university hospital to implement key findings in healthcare. (lu.se)
Our research is mainly funded by the The Swedish Cancer Society, The Swedish Children's Cancer Foundation, The Swedish Research Council (VR), ALF grant for clinical research, Region Skåne, and a Wallenberg Clinical Scholar Award by The Knut and Alice Wallenberg Foundation. (lu.se)
Clinical genetics covers research into the roles played by inherited and acquired genetic mutations for the onset of various forms of cancer and congenital hereditary diseases. (lu.se)

The study of biomarkers of genetic susceptibility in the context of workplace exposures can provide information about gene-environment interactions. (cdc.gov)
We have identified cancer stem cell biomarkers which predict clinically aggressive tumors. (uic.edu)
Charlotte Ling's research group has discovered epigenetic biomarkers that help them understand who will benefit from a common diabetes drug. (lu.se)

Although more adeno-associated virus AAV-based drugs enter the clinic, vector tissue tropism remains an unresolved challenge that limits its full potential despite that the tissue tropism of naturally occurring AAV serotypes can be altered by genetic engineering capsid vie DNA shuffling, or molecular evolution. (nature.com)
The clinically relevant data will now be used to develop the molecular diagnostic tests. (genengnews.com)
My particular interests include understanding the molecular drivers of therapy resistance and the role that clonal evolution has to play in this clinically important phenomenon. (ncl.ac.uk)
By combining data from all available schizophrenia genetic samples, researchers supported by the National Institutes of Health powered the search for clues to the molecular basis of the disorder to a new level. (nih.gov)
The research team concluded that the Drosophila nephrocyte can be used to illuminate the clinically relevant molecular mechanisms underlying the pathogenesis of most monogenic forms of NS. (childrensnational.org)
His lab has been at the forefront of developing and using clinically-relevant genetic models of human systemic metabolic abnormalities, cardiometabolic disease, myopathies, neuropathies, and aging using pathophysiological, cell-molecular, genetics, and nutritional approaches. (uab.edu)
There is a continuing debate about the proportion of cancer patients that benefit from precision oncology, attributable in part to conflicting views as to which molecular alterations are clinically actionable. (bvsalud.org)
Visit the Molecular Pediatric Oncology groups research portal via this link. (lu.se)
The overall objective of our research is to significantly improve the way in which acute leukemia is diagnosed, understood at the functional/molecular level, and treated within health care. (lu.se)

The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group recommends that patients newly diagnosed with colorectal cancer be offered genetic testing for LS to reduce morbidity and mortality in their close relatives. (cdc.gov)
To date, however, the utility of genomic testing in a clinically ascertained, prospectively recruited kidney disease cohort remains unknown. (bmj.com)
While the use of race in cardiovascular research may need a reevaluation, some experts say it would be beneficial to improve upon genomic data on Black lineage. (aacc.org)
The paper, entitled "Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation", demonstrates how this widely used bioinformatic platform has automatically identified and annotated over 6.8 million unique genetic variants across the published genetic evidence, a more than 22-fold increase compared to the largest manually curated alternative. (prweb.com)
Mastermind data is also used to produce comprehensive genomic landscapes of genetic variants, which drive pharmaceutical research. (prweb.com)
Genomenon is an AI-driven genomics company that organizes the world's genomic knowledge to connect patient DNA to scientific research in the diagnosis and development of treatments for patients with rare genetic diseases and cancer. (prweb.com)
The largest genomic dragnet of any psychiatric disorder to date has unmasked 108 chromosomal sites harboring inherited variations in the genetic code linked to schizophrenia , 83 of which had not been previously reported. (nih.gov)
Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants' Relatives. (philpapers.org)
Though researchers performing genomic analyses are likely to find medically significant genetic variations for nearly every research participant, what they will find for any given participant is unpredictable. (philpapers.org)
The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. (23andme.com)

There are widespread efforts to use this approach in clinically relevant systems to model genetic disorders 4 and for gene therapy to correct disease-driving mutations 5 . (nature.com)
Relatives of HCM probands with TNNI3 mutations were invited for cardiovascular and genetic assessment. (nih.gov)
A complementary focus of Dr. Melkani's research is to understand the genetic and mechanistic basis of cardiomyopathies, skeletal myopathies, and lipodystrophies that arise from mutations of LMNA. (uab.edu)
This includes the identification and characterization of cancer-associated genetic aberrations, investigations of the functional outcome of somatic mutations, and the development of novel targeted therapies for various forms of cancer. (lu.se)

Whole-genome analysis and whole-exome analysis generate many more clinically actionable findings than traditional targeted genetic analysis. (philpapers.org)

Together with Dr Chris Bacon I run the Lymphoma Research Group within the Wolfson Childhood Cancer Research Centre and collaborate closely with Prof Vikki Rand at the National Horizon's Centre, Teesside University. (ncl.ac.uk)
Methods: Midwife records were traced for 6866 individuals with type 2 diabetes in the Danish Centre for Strategic Research in Type 2 Diabetes (DD2) cohort. (lu.se)
Some of the research at Lund University Diabetes Centre (LUDC) focuses on the progression of type 2 diabetes to help develop more targeted treatments. (lu.se)
The tee of the National Research Centre. (who.int)
La présente étude monocentrique a étudié la fréquence des hémoglobinopathies chez 504 cas consécutifs en consultation au Centre diagnostique d'Islamabad pour une électrophorèse de l'hémoglobine entre juillet 2010 et février 2011. (who.int)

For the past year, researchers at Harvard Medical School, Partners HealthCare, and Harvard Medical School-Partners HealthCare Center for Genetics and Genomics have been using the Affymetrix technology to identify genetic sequences and signatures associated with a number of complex diseases. (genengnews.com)
Some of the risk factors the researchers identified are also involved in other psychiatric disorders, like schizophrenia, which isn't entirely surprising-a 2007 study from the Psychiatric Genomics Consortium found that people with depression, bipolar disorder, and schizophrenia as well as developmental disorders like ADHD and autism share the same variations in four locations in their genetic code. (mentalfloss.com)
Our research group combines mathematics and genomics to address clinically important problems in hematology and immunology. (lu.se)
Our research shows there are distinct genetic differences between the groups, which in turn means that the causes of type 2 diabetes vary somewhat", says Emma Ahlqvist, researcher in genomics, diabetes, and endocrinology at LUDC and one of the main authors of the study published in Nature Genetics. (lu.se)

The classical theory is based on the idea that the eggs a woman has are the ones she has had from birth, but there are researchers who claim that stem cell research could lead to the creation of new eggs. (sciencedaily.com)
However, many researchers, including my research group, have tried to replicate these studies and not succeeded. (sciencedaily.com)
Outdated law reform around genetic engineering could have huge benefits for health and food researchers. (abc.net.au)
Meanwhile, CSIRO researchers in Australia are trying to alter a gene in wheat, so the wheat fibre resembles the fibre content of oats, which is clinically proven to reduce cholesterol. (abc.net.au)
The overlap strongly suggests that common and rare variant studies are complementary rather than antagonistic, and that mechanistic studies driven by rare genetic variation will be informative for schizophrenia," say the researchers. (nih.gov)
Findings confirm that it's possible to develop risk profile scores based on schizophrenia-associated variants that may be useful in research - but for now aren't ready to be used clinically as a predictive test, say the researchers. (nih.gov)
The researchers hope to continue their work to understand the links between environmental stressors, genetic variations, and depression risk in the future. (mentalfloss.com)
However, none of the participants had been clinically diagnosed with ADHD, and researchers were quick to note that their findings do not imply that individuals with ADHD will develop Alzheimer's. (medscape.com)
So, researchers found a proxy for ADHD: a polygenic risk score that represents the combined genetic likelihood of developing ADHD. (medscape.com)
Genetic research has often failed to address heterogeneity on a population level, with lack of sustained efforts by researchers and funding agencies to ensure diverse representation among cohorts in genetics studies and in biobanks. (cdc.gov)
We encourage researchers to engage heterogeneous, representative cohorts in genetics research. (cdc.gov)
A more recent study by the same researchers from 2021 has shown that there are also distinct genetic differences between the four subgroups pertaining to type 2 diabetes. (lu.se)
The researchers hope that genetic data about the different subgroups can be useful when tailoring the treatment of people with diabetes. (lu.se)

The provision of psychotherapy to WTC rescue, recovery and clean-up workers who still suffer from clinically significant WTC-related posttraumatic stress disorder (PTSD) symptoms is often limited by geographical distance, reduced availability of expertly trained therapists, and stigma associated with seeking mental health treatment. (cdc.gov)

We will also evaluate genetic and epigenetic biomarker predictors and correlates of treatment response. (cdc.gov)
His group specialises in the study of the genetic and epigenetic regulation of female germ cell development. (sciencedaily.com)

and Owen A. Ross, Ph.D. This long-standing collaboration has created a research team that works to understand the cause, pathogenesis and prevention of early-onset Parkinson's disease and neurodegenerative disorders caused by synucleinopathies, and the irregular accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. (mayo.edu)
Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. (cdc.gov)
Sensorion's management team will also discuss their strategy and approach to treating genetic forms of hearing loss and their key partnerships with Institut Pasteur and Necker-Enfants Malades Hospital in the field of genetic disorders of the inner ear. (biospace.com)
Use of next generation sequencing technologies in research and beyond: are participants with mental health disorders fully protected? (philpapers.org)
His research focuses on disruptions of circadian rhythms associated with cardiometabolic, muscular, and sleep disorders that are hallmarks of many genetic, metabolic, and aging diseases. (uab.edu)
Huntington disease (HD) is a genetic, autosomal dominant, neurodegenerative disorder characterized clinically by disorders of movement, progressive dementia, and psychiatric and/or behavioral disturbance. (medscape.com)
Chromosomal breakage syndromes are a group of genetic disorders that are typically transmitted in an autosomal recessive mode of inheritance. (medscape.com)
Computational models are combined with genetic approaches to identify risk genes for blood- and immunological disorders, as well as regulators of the cell functions. (lu.se)

In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. (scielo.br)
This review highlights the genes and genetic polymorphisms currently studied, identified as influential in the genesis of IS, such as MMP-3, IL-6, type I collagen, and vitamin D and estrogen receptors. (scielo.br)
We concluded that IS remains a complex disease with a polygenic background and that genetic polymorphisms are intrinsically related to this condition. (scielo.br)
The application of pharmacogenetics in identifying single nucleotide polymorphisms (SNPs) in DNA sequences that cause clinically significant alterations in drug-metabolizing enzyme activities is discussed. (medscape.com)
In one particular area of study, variations in DNA sequences (i.e., genetic polymorphisms) explain some of the variability in drug-metabolizing enzyme activities which contribute to alterations in drug clearance and impact patients' response to drug therapy. (medscape.com)
This review introduces the concept of pharmacogenetics in the context of drug-metabolizing enzymes and highlights the polymorphisms in DNA sequences that lead to clinically significant alterations in drug-metabolizing-enzyme activities. (medscape.com)

Modified versions of AAVs range from genetic alterations of the viral cap gene to conjugation of proteins such as streptavidin or antibodies to promote interaction with specific cells. (nature.com)

The samples collected in this study will provide a valuable and unique sample database that will permit formulation of research protocols aimed at evaluating the biological underpinnings of immune competence and function in PID and the development of novel methods for the assessment of immune parameters in diagnosis of these immunodeficiency diseases. (mayo.edu)
His principal research interests include early-onset Parkinson's disease, Parkinson's disease and neurodegenerative diseases - in particular, dementias and dementia with Lewy bodies. (mayo.edu)
Major technological advances in the last few years have increased our knowledge of the role that genetics has in occupational diseases and our understanding of genetic components and the interaction between genetics and environmental factors. (cdc.gov)
As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. (cdc.gov)
His research interests concentrate on identifying novel causes of genetic diseases, mitigating barriers to genetic counseling in underserved populations, developing innovative methods of providing complex genetic information to patients and physicians and helped pioneer minimal access cochlear implant surgery. (biospace.com)
Clinically, she completed training in Pediatrics and Pediatric Infectious Diseases at Boston Children's Hospital and now sees patients on the Pediatric Infectious Diseases service at Lucille Packard Children's Hospital. (stanford.edu)

En ese sentido, existe un creciente enfoque en la identificación de genes, polimorfismos genéticos asociados y loci de susceptibilidad múltiples. (scielo.br)
La presente revisión destaca los genes y polimorfismos genéticos actualmente estudiados, identificados como influyentes en la génesis de la EI, como los genes MMP-3, IL-6, colágeno tipo 1 y receptores de vitamina D y de estrógeno. (scielo.br)
Frontiers in Genetics is an open-access journal that publishes rigorously peer-reviewed research on genes and genomes relating to all domains of life. (prweb.com)
Research in pharmacogenetics investigates how differences in our genes can affect our response to medicines. (nuffieldbioethics.org)
This idea explores new avenues of pharmaceutical care as it involves tailoring the right medication, dose, and regimen, for the patient, as per the more traditional roles of pharmacy and medical practice with a genetic twist: Not every drug may be suitable for a patient because not every patient has the right genes involved in metabolizing the drug. (ubc.ca)
Previous research has found the FOXM1 turns on genes that are responsible for cell growth and division. (thebraintumourcharity.org)
In a second line, we use natural genetic variation to find genes that regulate hematopoietic stem and progenitor cells (HSPC) in humans. (lu.se)

Many of these genetic variants (i.e., genotypes) were discovered after observing adverse reactions (i.e., phenotypes) after administering common doses of drugs to patients. (medscape.com)
It's challenging to take all these tiny pieces of virus floating around in wastewater and figure out which ones are from different variants and what their relative abundance is," says Scripps Research postdoctoral fellow Joshua Levy, PhD, a co-first author of the new paper with Smruthi Karthikeyan of UC San Diego. (eurekalert.org)
The "skyline" - Manhattan plot graph of genetic variation associated with schizophrenia - has risen dramatically over the past few years, Due to the enhanced ability to detect subtle effects of common gene variants that comes with larger sample sizes. (nih.gov)
New research published in the journal Nature Genetics provides a big step in figuring out why some people suffer from depression while others don't, identifying 44 genetic variants that are risk factors for major depression, 30 of which are new. (mentalfloss.com)
Many of the genetic variants identified by this study are linked to targets of current antidepressant medications, like serotonin. (mentalfloss.com)
Further research will need to confirm that these genetic variants are indeed linked to depression. (mentalfloss.com)
Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person's overall risk of developing the disease. (23andme.com)
In a first line of research, we study genetic predisposition for multiple myeloma (MM). Studies going back to the 1920s support familial aggregation of MM. Recently, we and others discovered sequence variants influencing MM risk, including common variants at 24 loci and rare, high-penetrant variants in the tumor suppressor gene DIS3. (lu.se)

The neurology specialists and research staff strive to directly implement the findings of their research to provide the most accurate diagnosis and the best possible individualized care. (mayo.edu)
His research findings have been published in major scientific journals and presented at neurology and neuroscience conferences worldwide. (mayo.edu)
The findings indicate that self-identified race and genetic ancestry are not interchangeable risk factors, Rao continued. (aacc.org)
These findings may be relevant to research participants themselves as well as for members of their families. (philpapers.org)
The ubiquity and diversity of these findings complicate questions about disclosing individual genetic test results. (philpapers.org)
Our findings suggest that participants with higher genetic risk for ADHD may be more susceptible to the cognitive impairment associated with amyloid deposition," he added. (medscape.com)
Commenting on the findings for Medscape Medical News, Heather Snyder, PhD, vice president of medical and scientific relations with the Alzheimer's Association, said it's important to note that study participants had genetic markers associated with ADHD risk but had not been diagnosed with ADHD. (medscape.com)

Participants need to know whether the research is likely to give rise to information that is directly relevant to their health. (nuffieldbioethics.org)
Decisions regarding the provision of individual feedback should be explained to the relevant research ethics committee. (nuffieldbioethics.org)
1 This section draws on a paper commissioned by the Committee on the Return of Individual-Specific Research Results Generated in Research Laboratories, "Analysis of Legal and Regulatory Landscape Relevant to Return of Individual Results Generated from Biospecimens in Research" by Christi J. Guerrini (see Appendix C ). (nationalacademies.org)
We examined whether a lower or higher birthweight in type 2 diabetes is associated with clinically relevant characteristics at disease onset. (lu.se)
Clinically relevant models are essential for cancer research. (lu.se)
PDX models are clinically relevant models which can be used to decipher treatment resistance and for preclinical drug testing. (lu.se)
We are continuously evaluating new treatments in our clinically relevant, patient-derived models in vitro and in vivo . (lu.se)

The study aims to improve the management and care of patients with severe immune cytopenias, to identify underlying causes of severe immune cytopenias and to develop a strategy for early treatment stratification based on a standardized diagnostic algorithm, potentially supported by biomarker analyses and (off study) genetic analyses, where clinically indicated. (centerwatch.com)

Genetic and pharmacologic inhibition overcame molecularly distinct resistance mechanisms, inhibited tumor cell growth and increased cell death. (childrenscolorado.org)

July 5, 2023 The time of year when eggs are collected from women's ovaries during fertility treatment makes a difference to live birth rates, according to new research. (sciencedaily.com)
Behavioral Brain Research, 2023, doi.org/10.1016/j.bbr.2022.114154. (unmc.edu)

Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. (23andme.com)
Results were robust to adjustments for PS representing weighted genetic predisposition for type 2 diabetes and birthweight. (lu.se)
A genetic predisposition to attention-deficit/hyperactivity disorder (ADHD) may increase risk for cognitive decline and Alzheimer's disease, new research suggests. (medscape.com)
Because this was an observational study and was not designed to assess causation, it is unclear whether a genetic predisposition to ADHD increases risk for Alzheimer's or just makes individuals more susceptible to damage caused by the disease. (medscape.com)
We are now carrying out large-scale genetic studies to deepen our understanding of MM predisposition. (lu.se)

More research is also needed to understand the genetic abnormalities that drive high ceramide levels and how ceramides damage cells and tissues. (reachmd.com)

With gene editing you don't always have to use genetic material from another organism, it is just editing the [existing] material within the organism,' Dr Bhula said. (abc.net.au)
Genetic testing revealed 43 CAG repeats in the HD gene. (medscape.com)

By identifying early predictors and mechanisms that lead to early-onset Parkinson's disease and synucleinopathies, Dr. Savica's research team is revealing information that will lead directly to improved diagnosis and treatment. (mayo.edu)
Research in animals has provided evidence for a causal relationship and revealed potential disease mechanisms. (reachmd.com)
An integrated understanding of the genetic and non-genetic mechanisms involved in treatment resistant relapse is necessary to identify novel treatment regimens. (lu.se)
In the second project, newly identified genetic changes are functionally studied to delineate mechanisms underlying leukemia development. (lu.se)

Our published work in high impact cancer research journals has shown that small populations of oral cancer stem cells are primarily responsible for initiating new tumors. (uic.edu)

Participation bias in the UK Biobank distorts genetic associations and downstream analyses. (cdc.gov)

A Feature Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for future research directions and describes possible research applications. (mdpi.com)

There are a number of reasons for this belief, including the idea that genetic information is uniquely identifying and highly predictive, for example revealing susceptibility to a disease. (nuffieldbioethics.org)
At the same time, these effects were mostly observed in individuals with amyloid pathology at baseline, pointing to the genetic risk for ADHD as a susceptibility to damage caused by Alzheimer's," he added. (medscape.com)

Indeed, early-onset Parkinson's disease may exhibit differences in genetic and environmental risk and protective factors, response to therapy, and prognosis. (mayo.edu)
Differences we observe clinically between self-identified racial/ethnic groups do not necessarily imply a genetic/biological difference. (aacc.org)
Recent advances in pharmacogenomic research have begun to elucidate the inherited nature of interindividual differences in drug-induced adverse reactions, toxicity, and therapeutic responses. (medscape.com)
Continued research in pharmacogenetics will further our understanding in interindividual differences in drug disposition. (medscape.com)

As a postdoc in Manoj Duraisingh's lab at Harvard School of Public Health she performed a genetic screen to identify critical host factors for Plasmodium falciparum malaria using red blood cells derived from hematopoietic stem cells. (stanford.edu)

Two randomized, crossover, pharmacokinetic studies were performed clinically. (nih.gov)
Studies of genetic and biological contributing factors in disparities in care haven't done a robust job of addressing societal and environmental factors. (aacc.org)
Several studies show evidence that the genetic component is determinant to the development of IS. (scielo.br)
These new research studies have been published in the journal Proceedings of the National Academy of Sciences ( PNAS ). (sciencedaily.com)
Ever since 2004, the studies on stem cell research and infertility have been surrounded by hype. (sciencedaily.com)
Research in recent years has covered both preclinical basic research and the transfer of the results generated from studies of mouse models to clinically applicable techniques for treating female infertility. (sciencedaily.com)
Among the strongest associations detected, as in in previous genome-wide genetic studies, was for variation in tissues involved in immune system function. (nih.gov)
Population genetic studies dating back to the mid-20th century first proposed that erythrocytes (red blood cells), the host cell for P. falciparum, have been under natural selection due to malaria. (stanford.edu)
We also argue that studies that disclose individual research results to participants should, at a minimum, passively disclose individual results to deceased participants? (philpapers.org)
To address this, we have created a unique, high-throughput platform that enables identification of HSPC regulators via genome-wide association studies where circulating HSPC levels in thousands of individuals are tested for correlation with millions of genetic markers. (lu.se)

We showed previously that grapefruit and orange juices inhibited human enteric organic anion-transporting polypeptide (OATP)1A2 in vitro and lowered oral fexofenadine bioavailability clinically. (nih.gov)

Patients will be included if they are referred to one of the multidisciplinary renal genetics clinics and are deemed likely to have a genetic basis to their kidney disease by the multidisciplinary renal genetics team. (bmj.com)
The purpose of this research is to understand sleep disturbances in patients with primary immunodeficiency. (mayo.edu)
Hence, this article reviews a case report and the research we conducted on management options for such patients. (ndnr.com)
Much research has been done on both pharmaceutical and nutritional agents that might be of use in patients with alcoholic cirrhosis. (ndnr.com)
We are sympathetic to the view that patients should be given individual feedback if the information is clinically useful and validated. (nuffieldbioethics.org)
Among patients experiencing first-onset depression, research has shown that some will have recurrences over their lifetime, while others will never experience another episode. (medpagetoday.com)
His research team observed 149 patients with non-small cell lung cancer (NSCLC), including 80 Caucasians and 69 African-Americans. (blackradionetwork.com)
His research team has developed Drosophila cardiac and skeletal muscle disease models of laminopathies and validated Drosophila phenotypes in human muscle biopsy tissue from laminopathy patients (recently completed NIH R21 and pending R01 grants). (uab.edu)
All patients were examined clinically by a factors [ 3 ]. (who.int)
We conduct leading research, both broad and specialised, within the field of laboratory medicine, focusing on the onset of disease and how we can improve diagnostics and treatment for patients. (lu.se)

To establish the role of genetic diagnosis in HCM families, systematic investigations of probands and their relatives are needed. (nih.gov)
Genetic diagnosis of TNNI3 is valuable in identifying clinically unaffected mutation carriers at risk of disease development and facilitates accurate management and counseling. (nih.gov)

His affiliation to professional bodies includes membership on the Evaluation Committee for the French National Institute of Health and Medical Research (INSERM) (2019-present), Society for Neuro-Oncology Conference Scientific Review Committee (2016-present), British Neuro-Oncology Society Research Sub-Committee (2018-present) and he is an editorial board member for Scientific Reports . (nottingham.ac.uk)

Specifically, the role of genetic information in occupational disease is discussed in Chapter 2, followed in Chapter 3 by a presentation of how genetics is incorporated into occupational health research. (cdc.gov)
Clinically, he is the Medical Director of the Cochlear Implant Team and faculty in the Auditory Genetics Laboratory of the Ear and Hearing Center. (biospace.com)
Addressing Equity, Diversity, and Inclusion in the Conduct and Reporting of Genetics Research. (cdc.gov)
Some of our strongest areas with world-class research deal with cancer, genetics and blood. (lu.se)
Our research is focused on different aspects of cancer genetics and cancer biology. (lu.se)

Dr. John Greinwald is a tenured professor of Otolaryngology and Pediatrics with over 20 years of experience with a focus on the genetic causes and treatment of deafness. (biospace.com)
An NIH award will help fund a collaborative effort of Columbia University's Department of Pediatrics and Department of Psychiatry titled Prospective Genetic Risk Evaluation and Assessment in Autism. (columbiapsychiatry.org)

As part of the Genetic Pharmacology Service, the division is investigating new methods to reduce adverse reactions by identifying genetic variations in drug metabolism, providing dose recommendations based on the patient's drug metabolizing genotype / phenotype and delineating clinically significant drug interactions. (cincinnatichildrens.org)

Pharmacogenetics has elucidated the genetic basis for interindividual variability in drug response and will continue to play a key role in defining strategies to optimize drug therapy. (medscape.com)
However, in the context of pharmacogenetics, an undue emphasis on the fact that information is genetic can be unhelpful. (nuffieldbioethics.org)
Pharmacogenetics research has shown that children have widely differing abilities to metabolize drugs. (cincinnatichildrens.org)
Learn more about how we're using pharmacogenetics − the study of drug interactions with an individual's genetic makeup - to improve patient safety and to help physicians choose the right dose. (cincinnatichildrens.org)
Includes Pharmacogenetics** reports, Heart Health reports, Skin Cancer (Basal and Squamous Cell Carcinomas) and Skin Cancer (Melanoma) reports (Powered by 23andMe Research) plus other exclusive reports. (23andme.com)

We are currently conducting a randomized controlled trial to assess the efficacy of Internet-based, therapist-assisted cognitive behavioral therapy compared to Internet-based, therapist-assisted supportive therapy for WTC rescue, recovery and clean-up workers with persistent clinically significant PTSD symptoms. (cdc.gov)
She noted that some individuals who have a lower genetic risk score go on to develop ADHD, while some with a higher score never show symptoms. (medscape.com)
This is an important limitation, and we would like to highlight that more work is needed to link clinically confirmed ADHD symptoms and the development of Alzheimer's disease dementia," Laffe said. (medscape.com)

Not all genetic tests convey highly predictive or diagnostic information about a patient or their relatives. (nuffieldbioethics.org)

Then, he coded a new computational tool that sifts through the mass of genetic information in wastewater to find these barcodes. (eurekalert.org)

We also seek to develop clinically applicable methods to identify individuals with high risk, and thereby enable early intervention, which is emerging as a real option for MM. (lu.se)

The goal: to assess the proportion of West African genetic ancestry in response to antihypertensive medication, BP control, and CVD outcomes. (aacc.org)
Investigators genotyped 106 biallelic ancestry informative markers to develop West African ancestry proportion and used linear mixed-effect modeling to assess BP and kidney function across tertiles of genetic West African ancestry proportion, in the trial's follow-up stage. (aacc.org)
Blood ceramides are now being measured clinically to assess disease risk. (reachmd.com)
Weighted polygenic scores (PS) for type 2 diabetes and birthweight were calculated to assess the impact of genetic predispositions. (lu.se)

Two offspring of clinically unaffected mutation carriers were resuscitated from cardiac arrest, and an additional four individuals died suddenly as their initial presentation. (nih.gov)
The genetic mutation is theorized to cause an imbalance between free radical production and removal, resulting in the subsequent neuronal degeneration and neurotransmitter decline. (medscape.com)

The latest deal builds on a previous translational research collaboration. (genengnews.com)

American Association of Cancer Research (AACR) Annual Meeting (2020. (uniovi.es)

At present, however, a number of legal and regulatory barriers impede the return of individual research results to participants and contribute to unevenness in access across states and research institutions. (nationalacademies.org)

He currenty leads research programmes in neurosurgically-applied drug delivery, brain tumour heterogeneity and brain tumour metabolism as Associate Professor, with a grant portfolio of £6M since 2013. (nottingham.ac.uk)

Evaluation of genetic damage can provide information about exposure or effect of exposure. (cdc.gov)
He has pioneered the establishment of diagnostic evaluation algorithms for children with sensorineural hearing loss and developed a next generation sequencing platform to determine the genetic causes of hearing loss in children. (biospace.com)

In September 2016, the Cancer Moonshot Blue Ribbon Panel delivered a report with 10 ambitious recommendations to shape cancer research for the next five years. (cdc.gov)
More broadly, a public health success for HBOC and LS could serve as a model for genetic testing for conditions that expand beyond cancer, most notably familial hypercholesterolemia (FH), a common genetic disorder associated with premature heart attacks and which, like HBOC and LS, is poorly diagnosed and managed by the health care system. (cdc.gov)
Our latest research demonstrated that metastatic stem cells arise in the earliest stages of oral cancer progression. (uic.edu)
Heidelberg University Hospital is one of the largest medical centres in Europe with its unique campus site shared with the German Cancer Research Center. (scientific-computing.com)
Consequently, the application of AI and machine learning on these biobank datasets holds huge potential to profoundly impact cancer research. (cdc.gov)
Sources of funding include e.g. the Swedish foundation for Strategic Research, the Knut and Alice Wallenberg Foundation, The Swedish Childhood Cancer Foundation and Swedish Research Council. (lu.se)
The Nilsson lab focuses on how inborn genetic variation influences blood cell formation and blood cancer risk in humans. (lu.se)

Common variable immunodeficiency (CVID) is a clinically, genetically and immunologically heterogeneous primary immunodeficiency disease (PID). (mayo.edu)

When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. (wikipedia.org)
This research suggests that the course of progression of ADHD during childhood and adolescence is associated with an increased risk of developing ND. (basisonline.org)
By identifying genetic risk factors associated with major depressive disorder, the scientists hope to increase our understanding of why depression strikes some people and not others. (mentalfloss.com)
Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. (23andme.com)
Investigators note that the study, which included more than 200 participants, is the first to show an association between genetic risk for ADHD and odds of developing late-onset Alzheimer's. (medscape.com)
We found that higher genetic risk for ADHD was associated with cognitive decline and development of Alzheimer's pathology, suggesting that it can increase the risk of developing AD," Leffa said. (medscape.com)

In San Diego wastewater, the group detected the Omicron variant 11 days before it was first reported clinically. (eurekalert.org)

Her research is focused on understanding how host factors from the human erythrocyte influence the biology and pathogenesis of the malaria parasite Plasmodium falciparum. (stanford.edu)

People with type 1 diabetes and type 2 diabetes are often crudely diagnosed but more and more research indicate that diabetes is more complex than that. (lu.se)

The sample included children with clinically diagnosed ADHD, their siblings, and healthy controls. (basisonline.org)

For example, lowering ceramides through genetic or pharmacological interventions prevents cardiovascular disease and diabetes in rodents. (reachmd.com)

Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. (cdc.gov)
These recommendations also are intended as a resource for medical and public health professionals who evaluate laboratory practices, for users of laboratory services to facilitate their collaboration with newborn screening systems and use of biochemical genetic tests, and for standard-setting organizations and professional societies in developing future laboratory quality standards and practice recommendations. (cdc.gov)

The Children's Hospital of Philadelphia Pediatric Neuropathologists also make significant contributions to translational and basic research at Children's Hospital of Philadelphia Research Institute by contributing to the Pathology Core Laboratory and supporting an extensive multi-institution pediatric brain tumor tissue repository. (chop.edu)
The call will feature a presentation by KOL John Greinwald Jr., MD, FAAP, Cincinnati Children's Hospital, who will discuss genetic forms of hearing loss in children. (biospace.com)

After receiving the Nottingham Advanced Research Fellowship for the Faculty of Medicine in 2011, Dr. Rahman was appointed Assistant Professor at the University of Nottingham's School of Medicine in October 2013 and awarded the British Neuro-Oncology Society Young Investigator of the Year in 2014. (nottingham.ac.uk)

Nicole ("Nikki") L. Zabik, PhD is a postdoctoral research associate in the Emotional Neuroscience Laboratory, led by Dr. Jennifer Blackford, in the Munroe-Meyer Institute at the University of Nebraska Medical Center. (unmc.edu)

Although the notion that malaria has helped shape the human genome is well- accepted, the lack of a nucleus in human erythrocytes has hindered our ability to study genetic interactions between these unusual host cells and P. falciparum parasites. (stanford.edu)

Role of Genetic Information in Occupational Disease: The role of genetic information in occupational disease is being explored. (cdc.gov)

Feature papers represent the most advanced research with significant potential for high impact in the field. (mdpi.com)
The potential for a clinically significant event is enhanced if the drug is widely used and has a narrow therapeutic range, if the enzyme pathway plays a major role in the elimination of the drug, or if the number of therapeutic alternatives is limited. (medscape.com)

Diseases1

Chemicals and Drugs1

Analytical, Diagnostic and Therapeutic Techniques and Equipment9

Psychiatry and Psychology10

Phenomena and Processes8

Disciplines and Occupations12

Anthropology, Education, Sociology and Social Phenomena10

Humanities2

Information Science3

Named Groups3

Health Care20

Geographicals1

Testing is clinically available2

Clinical34

Biomarkers3

Molecular9

Genomic10

Mutations4

Actionable1

Centre5

Genomics4

Researchers13

Posttraumatic stress d1

Epigenetic2

Disorders9

Polymorphisms6

Alterations1

Diseases6

Genes7

Variants8

Findings7

Relevant7

Biomarker1

Inhibition1

20232

Predisposition5

Abnormalities1

Gene2

Mechanisms4

Tumors1

Analyses1

Approaches1

Susceptibility2

Differences4

Hematopoietic1

Studies10

Vitro1

Patients10

Diagnosis2

20181

Genetics5

Pediatrics2

Variations1

Pharmacogenetics5

Symptoms3

Predictive1

Computational1

Methods1

Assess4

Mutation2

Translational research1

20201

Barriers1

Heterogeneity1

Evaluation2

Cancer7

Heterogeneous1

Risk6

Variant1

Pathogenesis1

Type 2 Diabet1

Siblings1

Cardiovascular1

Biochemical2

Children's Hospital2

Faculty of Medic1

Postdoctoral1

Study genetic1

Role of genetic1

Significant2