Genomic Diseases In Healthcare

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Human Molecular Genetics and Genomics — Important Advances …

(Just Now) WEBThe ultimate goal is for health care systems to couple genomic information with medical records. Diagnosis of genetic diseases has advanced rapidly because of genomic-sequencing technology

https://www.nejm.org/doi/full/10.1056/NEJMp2030694

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Genetics and genomics in healthcare: the future is now - PMC

(3 days ago) WEBBeyond utilising the host genome for precision care, we are now entering the era where gut and organ-specific microbiome studies not only can forecast and predict outcomes or a disease state and responses to therapy,[17,18,19,20] but in the future, may direct specific probiotics aimed at correcting dysbiosis. Inevitably, every person will have

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979799/

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A brief history of human disease genetics Nature

(9 days ago) WEBThe value of sharing genetic and phenotypic data from those thought to harbour rare undiagnosed genetic diseases has fostered global Center for Genomic Health, Icahn School of Medicine at

https://www.nature.com/articles/s41586-019-1879-7

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Genomics and Precision Medicine 2021: Progress in - Blogs

(6 days ago) WEBA New Year, A New Public Health Initiative in Genomics and Precision Medicine. In October 2021, funding from the CDC Office of Advanced Molecular Detection helped to put our planning efforts into immediate action. A new initiative seeks to strengthen CDC’s capacity to integrate human genomics into public health surveillance and …

https://blogs.cdc.gov/genomics/2021/12/17/genomics-2021/

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Improving diagnostics of rare genetic diseases with NGS approaches

(3 days ago) WEBIntroduction. Rare diseases present an important public health burden since they affect 6–8% of the EU population. It is estimated that about 80% of rare diseases have a genetic origin and new genomic technologies revolutionized diagnostic approach (European Commission n.d.).. Even though rare diseases have affected human health …

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141085/

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Addressing health disparities in cancer with genomics - PMC

(3 days ago) WEBAddressing health disparities in cancer with genomics. Incorporating genomics more widely into cancer screening and management will help to tackle the mortality gap between Black and white patients with cancer. Here, we emphasize the role of genomics as a tool to promote health equity in cancer. Subject terms: Health care, …

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8267506/

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Multi-omics approaches to disease Genome Biology Full Text

(4 days ago) WEBIn the past decade, high-throughput genotyping, combined with the development of a high quality reference map of the human genome, rigorous statistical tools, and large coordinated cohorts of thousands of patients, has enabled the mapping of thousands of genetic variants, both rare and common, contributing to disease …

https://genomebiology.biomedcentral.com/articles/10.1186/s13059-017-1215-1

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Genomic medicine - The Lancet

(9 days ago) WEBThe acceleration of documenting genomic variation in disease states and health outcomes has led to an upswell of clinical insights and avenues of exploration. The exciting and maturing area of …

https://www.thelancet.com/series/genomic-medicine

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Genetic Disorders Genomics and Your Health CDC

(8 days ago) WEBWhat to know. Genetic disorders are health problems that happen because of some type of abnormality in a person's genetic material. There are several types of genetic disorders. Some disorders are caused by a genetic change (mutation) in a single gene; some are caused by an abnormality in one of the chromosomes; and some are complex, …

https://www.cdc.gov/genomics-and-health/about/genetic-disorders.html

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Genomic Medicine - National Human Genome Research Institute

(7 days ago) WEBDefinition. Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care. Other similar terms include individualized medicine, personalized medicine and precision medicine. For some conditions, genomic information can be used to help diagnose disease, predict …

https://www.genome.gov/genetics-glossary/Genomic-Medicine

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A new gene-editing system tackles complex diseases - Medical …

(3 days ago) WEBThe human genome consists of around 3 billion base pairs and humans are all 99.6% identical in their genetic makeup. That small 0.4% accounts for any difference between one person and another

https://medicalxpress.com/news/2024-05-gene-tackles-complex-diseases.html

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Study defines major genetic form of Alzheimer’s disease

(5 days ago) WEBPeople with two copies of a certain gene, APOE4, predictably developed Alzheimer’s disease from the relatively early age of 55 years. The findings suggest a newly defined genetic form of Alzheimer’s disease, with implications for future research, diagnosis, and treatment. Nearly all the people in the study who had two copies of the …

https://www.nih.gov/news-events/nih-research-matters/study-defines-major-genetic-form-alzheimer-s-disease

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Breaking down causes, consequences, and mediating effects of …

(5 days ago) WEBAging represents a leading risk factor for diseases such as cancer, cardiovascular diseases, and neurodegeneration [].Chronological age fails to account for individual differences in aging rates and vulnerability to diseases [].Biological age intends to address this limitation by reflecting the physiological state of an individual and …

https://genomebiology.biomedcentral.com/articles/10.1186/s13059-024-03269-9

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Implementation of genomic medicine for rare disease in a tertiary

(4 days ago) WEBIn the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause; however, this may go undiagnosed. To better serve these patients, the Mayo Clinic Program for Rare and …

https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-023-04183-7

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Genomic Testing: Definition, How It Works, Benefits - Verywell …

(1 days ago) WEBGenomics. The study of the activity and interaction of genes in the genome, including their role in certain diseases. Once you have cancer, genomics establishes how the tumor will behave. The Oncotype DX and PAM50 breast cancer tests are used to profile a tumor and predict how you will respond to chemotherapy.

https://www.verywellhealth.com/what-genomic-testing-can-tell-you-about-health-risks-4177737

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Five Ways That Genetic Research and Advancements Inform …

(2 days ago) WEBToday, advancements in genetic research have contributed to and enhanced the growing field of personalized medicine. Additionally, it has improved disease risk factor assessments and early disease detection, informed lifestyle changes to reduce risks, contributed to the development of genetic counseling and reproductive health …

https://lifesciencesintelligence.com/features/five-ways-that-genetic-research-and-advancements-inform-healthcare

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Evaluating the Benefits and Challenges of Genomics in Healthcare

(9 days ago) WEBDecember 06, 2019 - In recent years, genomics and genetic data have emerged as an innovative area of research that could potentially transform healthcare. This information could accelerate precision medicine, paving the way for individualized therapies tailored to each person. Studies have examined how genomics could improve care for …

https://healthitanalytics.com/news/evaluating-the-benefits-and-challenges-of-genomics-in-healthcare

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Direct-to-Consumer Genetic Testing FAQ for Healthcare …

(4 days ago) WEBThe Direct-to-Consumer Genetic Testing (DTC-GT) Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics has created a DTC-GT Frequently Asked Questions (FAQ) resource designed for the general clinician who may see patients requesting guidance on DTC-GT. This FAQ is intended to help healthcare …

https://www.genome.gov/For-Health-Professionals/Provider-Genomics-Education-Resources/Healthcare-Provider-Direct-to-Consumer-Genetic-Testing-FAQ

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Study Suggests Genetics as a Cause, Not Just a Risk, for Some …

(4 days ago) WEBIt is unusual for diseases to follow that genetic pattern, called “semidominance,” with two copies of a variant causing the disease, but one copy only increasing risk, experts said

https://www.nytimes.com/2024/05/06/health/alzheimers-cause-gene-apoe4.html

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An Integrated Framework for Analysis and Prediction of Impact of …

(2 days ago) WEBSingle nucleotide polymorphisms are most common type of genetic variation in human genome. Analyzing genetic variants can help us better understand the genetic basis of diseases and develop predictive models which are useful to identify individuals who are at increased risk for certain diseases. Several SNP analysis tools …

https://journals.sagepub.com/doi/abs/10.1177/11769343241249916

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Clinical Features and Genomic Epidemiology of - Oxford Academic

(8 days ago) WEBClinical Features and Genomic Epidemiology of Bloodstream Infections Due to Enterococcal Species Other Than Enterococcus faecalis or E. faecium In Patients With Center for Infectious Diseases, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA. Search for other works by this author …

https://academic.oup.com/ofid/advance-article/doi/10.1093/ofid/ofae288/7675978

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Genetics of Pediatric Immune-Mediated Diseases - Frontiers

(5 days ago) WEBPediatric immune-mediated diseases are a diverse group of conditions where a child’s immune system incorrectly targets and damages its own tissues, leading to chronic inflammation and other serious health issues. The genetic basis of these diseases is a rapidly expanding area of research, crucial for understanding the mechanisms behind …

https://www.frontiersin.org/research-topics/64980/genetics-of-pediatric-immune-mediated-diseases/overview

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NIH study shows chronic wasting disease unlikely to move from …

(4 days ago) WEBThe findings, from National Institutes of Health scientists and published in Emerging Infectious Diseases, are consistent with decades of similar research in animal models at the NIH including the possibility that a small number of people may have genetic susceptibility that was not accounted for, and that emergence of new strains …

https://www.nih.gov/news-events/news-releases/nih-study-shows-chronic-wasting-disease-unlikely-move-animals-people

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Genetic diagnostic technology a game changer for rare diseases, …

(5 days ago) WEBGenetic diagnostic technology advances for rare diseases offer hope, but gene-tech comes wrapped in complex ethical concerns. Currently, rare disease patients take an average of five years to get

https://www.euractiv.com/section/health-consumers/news/genetic-diagnostic-technology-a-game-changer-for-rare-diseases-but-ethics-concerns-linger/

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Genome UK: the future of healthcare - GOV.UK

(2 days ago) WEBSGP is piloting genomic testing of patients in Scotland with rare genetic diseases in collaboration with Genomics England and the 100,000 Genomes Project and has been supporting genomic research

https://www.gov.uk/government/publications/genome-uk-the-future-of-healthcare/genome-uk-the-future-of-healthcare

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Clinical Course, Antifungal Susceptibility, and Genomic …

(8 days ago) WEBA k-mer analysis was conducted in CLC Genomics Workbench using assembled genomes from 11 isolates recovered from patients in New York City, 8 publicly available Indian T indotineae genomes, and 1 publicly available T interdigitale genome from an isolate originating from Germany. K-mers with a prefix of ATGAC and a length of 16 …

https://jamanetwork.com/journals/jamadermatology/fullarticle/2818522

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Pharmacogenomics: What does it mean for your health? CDC

(7 days ago) WEBPharmacogenomics is an important example of the field of precision medicine, which aims to tailor medical treatment to each person or to a group of people. Pharmacogenomics looks at how your DNA affects the way you respond to drugs. In some cases, your DNA can affect whether you have a bad reaction to a drug or whether a drug helps you or has

https://www.cdc.gov/genomics/disease/pharma.htm

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Antibiotics Free Full-Text Emergence of Neisseria - MDPI

(9 days ago) WEBDrug-resistant Neisseria gonorrhoeae poses an urgent threat to public health. Recently, sitafloxacin, a new-generation fluoroquinolone, has shown high in vitro activity against drug-resistant N. gonorrhoeae. However, data on its effectiveness in clinical isolates remains limited. In this study, we collected 507 N. gonorrhoeae isolates from 21 …

https://www.mdpi.com/2079-6382/13/5/468

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Genetics and Health - Genes, Behavior, and the Social Environment

(4 days ago) WEB3. Genetics and Health. Although there are many possible causes of human disease, family history is often one of the strongest risk factors for common disease complexes such as cancer, cardiovascular disease (CVD), diabetes, autoimmune disorders, and psychiatric illnesses. A person inherits a complete set of genes from each …

https://www.ncbi.nlm.nih.gov/books/NBK19932/

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Risk of ‘genetic discrimination’ by insurance companies is ruining

(8 days ago) WEBHuman genomic research holds promise for the development of cures and treatments for cancers and heritable diseases. To achieve this, researchers rely on people willingly donating their genomic data.

https://theconversation.com/risk-of-genetic-discrimination-by-insurance-companies-is-ruining-peoples-trust-in-vital-medical-science-230112

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Having a child with a rare genetic disease is difficult. It's even

(1 days ago) WEBJulia Abu Zeaiter, 3, lives in Gaza with a rare life-threatening genetic disease. NPR's Leila Fadel talks to her father, Amjad Abu Zeaiter, and Izzie Duval, an American trying to help them evacuate.

https://www.npr.org/2024/05/21/1252623082/having-a-child-with-a-rare-genetic-disease-is-difficult-its-even-harder-in-gaza

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Drug Discovery, Development and Evaluation Hub - University at …

(7 days ago) WEBDr. Zhao is an internationally recognized infectious disease and antimicrobial researcher leading high-impact federally funded research in drug discovery and development. (MRSA), and multiresistant mycobacteria. He uses genomic sequencing together with informatics tools and clinical epidemiology to tackle the …

https://www.buffalo.edu/provost/messages.host.html/content/shared/pharmacy/articles/academic_articles/2024/ddde-hub-welcomes-new-faculty-to-fuel-innovation.detail.html

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Genetic profile may predict best response to weight-loss drug …

(7 days ago) WEBThe study, released at the Digestive Disease Week meeting in Washington, found a 95% likelihood that patients with this genetic profile would be strong responders to the treatment.

https://www.reuters.com/business/healthcare-pharmaceuticals/genetic-profile-may-predict-best-response-weight-loss-drug-wegovy-2024-05-20/

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Dental Profile of Brazilian Patients with Rare Skeletal Genetic

(1 days ago) WEBAccording to the World Health Organization (WHO), rare diseases are defined as all diseases that have a prevalence of less than 65 cases per 100,000 inhabitants []; the majority of these diseases having a genetic origin.It is estimated that there are six to eight thousand types of rare diseases, which can affect different organs; each with their own …

https://www.mdpi.com/2227-9032/12/10/1046

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Antibiotics Free Full-Text Emergence of Neisseria - MDPI

(5 days ago) WEBFeature papers represent the most advanced research with significant potential for high impact in the field. 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.

https://www.mdpi.com/2079-6382/13/5/468/notes

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KalVista Pharmaceuticals Bolsters Genetic Medicine with Oral …

(3 days ago) WEBThe field of genetic medicine has witnessed remarkable advancements, with innovative pharmaceutical companies pushing boundaries to find effective solutions for genetic diseases. One such company, KalVista Pharmaceuticals, Inc. (NASDAQ: KALV), has taken center stage with its focus on the discovery, development, and …

https://csimarket.com/news/kalvista-pharmaceuticals-bolsters-genetic-medicine-with-oral-protease-inhibitors2024-05-21104524

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