Breaking News
November 19, 2018 - Scientists equip new virus that kills carcinoma cells with protein
November 19, 2018 - Protein in cell membranes of sperm plays key role in finding their way to eggs
November 19, 2018 - Parents who decline flu vaccination for their child may be exposed to limited information
November 19, 2018 - Mirati Presents Data From Ongoing Phase 2 Clinical Trial Of Mocetinostat In Combination With Durvalumab At The SITC 33rd Annual Meeting
November 19, 2018 - FDA warns of common diabetes meds’ link to dangerous genital infection
November 19, 2018 - New methods for preserving shoulder function, quality of life in breast cancer patients
November 19, 2018 - Surprising discovery about BH4 may rekindle interest in once-promising pathway
November 19, 2018 - Nabriva Therapeutics Completes Submission of New Drug Application to U.S. Food and Drug Administration for Intravenous Contepo to Treat Complicated Urinary Tract Infections
November 19, 2018 - Beating breast cancer only to die of opioid use – a sad Appalachian story
November 19, 2018 - Workplace bullying or violence linked to higher risk of cardiovascular problems
November 19, 2018 - Changes in Risk Indicators of MetS Severity Tied to T2DM Risk
November 19, 2018 - ‘Game-changing’ skin sensor could improve life for a million hydrocephalus patients
November 19, 2018 - Alcohol ads on social media sites with pro-drinking comments increase desire to drink
November 19, 2018 - Neural networks could replace marker genes in RNA sequencing
November 19, 2018 - Obese adolescents feel less food enjoyment than those with normal weight, study reveals
November 18, 2018 - Goodbye ‘Gluten-Free’? Celiac Disease Vaccine May Make It Possible
November 18, 2018 - Skin ages when the main cells in the dermis lose their identity and function
November 18, 2018 - Rainforest vine compound makes pancreatic cancer cells susceptible to nutrient starvation
November 18, 2018 - A new mechanism in the control of inflammation
November 18, 2018 - Age-related decline in abstract reasoning ability predicts depressive symptoms over time
November 18, 2018 - Scientists succeed in increasing stability, biocompatibility of light-transducing nanoparticles
November 18, 2018 - Sugar, a ‘sweet’ tool to understand brain injuries
November 18, 2018 - Pharmacist-Led Effort Cuts Inappropriate Rx in Older Adults
November 18, 2018 - Novel discovery could lead to new cancer, autoimmune disease therapy
November 18, 2018 - AHA and ADA launch new initiative to help people with type 2 diabetes reduce heart disease risk
November 18, 2018 - Balanced production of pro and anti-inflammatory cytokines at two years of age protects against malaria
November 18, 2018 - New pharmacological agent shows promise for prevention of heart rhythm disorders
November 18, 2018 - All That Social Media May Boost Loneliness, Not Banish It
November 18, 2018 - Scientists shine new light on link between obesity and cancer
November 18, 2018 - Risk factors for cardiovascular disease closely track with changes in diet patterns
November 18, 2018 - Biogen Scoops Sixth Prix Galien Award with UK Win for Life-Changing Rare Disease Medicine
November 18, 2018 - Detectable HIV-1 in treated human liver cells found to be inert
November 18, 2018 - Using light to control crucial step in embryonic development
November 18, 2018 - Unusual case of father-to-son HIV transmission reported
November 18, 2018 - FDA Approves Aemcolo (rifamycin) to Treat Travelers’ Diarrhea
November 18, 2018 - Poverty blamed on widening north-south gap in young adult deaths in England
November 18, 2018 - Progress in meningitis lags far behind other vaccine-preventable diseases, analysis shows
November 18, 2018 - Consensus Statement Issued on Management of Foot, Ankle Gout
November 18, 2018 - Fine particle air pollution is a public health emergency hiding in plain sight
November 18, 2018 - In-hospital mortality higher among patients with drug-resistant infections
November 17, 2018 - Research shines new, explanatory light on link between obesity and cancer
November 17, 2018 - FIND explores new diagnostic assays for confirmatory HCV diagnosis in community settings
November 17, 2018 - Tracking Preemies’ Head Size May Yield IQ Clues
November 17, 2018 - Scientists call for unified standards in 3-D genome and epigenetic data
November 17, 2018 - Lab Innovations 2018 has beaten all records by attracting 3,113 attendees
November 17, 2018 - New strategy to hinder emergence of antimicrobial-resistant pathogens
November 17, 2018 - Sexuality education before age 18 may reduce risk of sexual assault in college
November 17, 2018 - Reducing cellular proliferation could help deplete HIV reservoir and lead to a functional cure
November 17, 2018 - New model of FSHD could be useful to study effectiveness of experimental therapeutics
November 17, 2018 - FDA approves antibacterial drug to treat travelers’ diarrhea
November 17, 2018 - Lab Innovations 2018 confirmed as a major hit with visitors, exhibitors and speakers
November 17, 2018 - Largest parasitic worm genetic study hatches novel treatment possibilities
November 17, 2018 - UCLA biologists uncover how head injuries can lead to serious brain disorders
November 17, 2018 - Static and dynamic physical activities offer varying protection against heart disease
November 17, 2018 - Obesity significantly increases risk of Type 2 diabetes and coronary artery disease
November 17, 2018 - New method to analyze cell membrane complexes could revolutionize the way we study diseases
November 17, 2018 - Researchers show how proteins interact in hypoxic conditions to facilitate mitochondrial fission
November 17, 2018 - People with rare cancers can benefit from genomic profiling, shows research
November 17, 2018 - NIH awards over $1.8 million to husband-and-wife doctors to test new breast cancer approach
November 17, 2018 - Four-in-one antibody used to fight flu shows promise in mice
November 17, 2018 - New approach allows pathogens to be starved by blocking important enzymes
November 17, 2018 - Higher body mass index could cause depression even without health problems
November 17, 2018 - Protein which plays role in sensing cell damage serves as new target to treat pulmonary hypertension
November 17, 2018 - FDA Approves Adcetris (brentuximab vedotin) in Combination with Chemotherapy for Adults with Previously Untreated Systemic Anaplastic Large Cell Lymphoma or Other CD30-Expressing Peripheral T-Cell Lymphomas
November 17, 2018 - ID specialist input improves outcomes for outpatient parenteral antimicrobial therapy
November 17, 2018 - UT Southwestern scientists selected to receive 2019 Edith and Peter O’Donnell Awards
November 17, 2018 - New clinical algorithm to help individuals manage type 2 diabetes when fasting during Ramadan
November 17, 2018 - Researchers identify LZTR1 as evolutionarily conserved component of RAS pathway
November 17, 2018 - Heart Disease Leading Cause of Death in Low-Income Counties
November 17, 2018 - Estrogen Levels Test: MedlinePlus Lab Test Information
November 17, 2018 - Research reveals link between immunity, diabetes
November 17, 2018 - Research shows how to achieve improved smoking cessation outcomes within California’s Medicaid population
November 17, 2018 - New study finds less understanding and implementation of patient engagement
November 17, 2018 - New shoe insole technology could help diabetic ulcers heal better while walking
November 17, 2018 - New method to extend cell division and immortalization of avian-derived cells
November 17, 2018 - Australian Academy of Science urges parents to vaccinate children against meningococcal disease
November 17, 2018 - Hot water treatment may help improve inflammation and metabolism in sedentary people
November 17, 2018 - Researchers produce 3D chemical maps of small biological samples
November 17, 2018 - Must Blood Pressure Rise Wth Age? Remote Tribes Hold Clues
November 17, 2018 - Noonan Syndrome
Study combines gene editing and stem cell technologies to predict person’s risk for heart disease

Study combines gene editing and stem cell technologies to predict person’s risk for heart disease

image_pdfDownload PDFimage_print

Scientists may now be able to predict whether carrying a specific genetic variant increases a person’s risk for disease using gene editing and stem cell technologies, according to new research in the American Heart Association’s journal Circulation.

For the first time, the study demonstrates the unique potential of combining stem cell-based disease modeling (Induced pluripotent stem cells) and CRISPR/Cas9-mediated genome editing technology as a personalized risk-assessment platform for determining the disease-causing ability of a yet undescribed genetic variant, known as a “variant of uncertain significance” or VUS.

Numerous genetic variations are identified as “related” to a medical condition, but it is uncertain if they actually lead to disease, said study senior author Joseph C. Wu, M.D., Ph.D., director of the Stanford Cardiovascular Institute and Simon H. Stertzer, M.D. Endowed Professor in the Department of Medicine (Cardiology) and Department of Radiology at the Stanford University School of Medicine in California.

“Random genetic testing will create a lot of stress for a healthy individual who may be getting echocardiograms, MRIs or medications that they may not need,” Wu said. “Results from this study will help improve the interpretation and diagnostic accuracy of gene variants, especially in the era of personalized medicine and precision health. The goal is to optimize the decision making of clinicians in their choices of therapy by providing a much clearer result for the ‘variant of uncertain significance’ carriers.”

Researchers studied genetic variants associated with hypertrophic cardiomyopathy, a condition in which the heart muscle thickens. It is a common cause of sudden cardiac death in young people and young athletes.

They harvested DNA from 54 “healthy” or symptom-free individuals without heart disease, then sequenced their DNA using a custom DNA panel of 135 cardiomyopathy and congenital heart disease genes associated with sudden cardiac death.

The sequence results uncovered 592 unique genetic variants, with 78 percent of genetic variants being classified as “benign,” “likely benign,” or a “variant of uncertain significance.” However, 17 genetic variants were annotated as “likely pathogenic” or disease-causing.

One individual who had multigenerational family members carrying a variation in gene MYL3, which is associated with hypertrophic cardiomyopathy, was chosen in this study.

After collecting the patients’ peripheral blood mononuclear cells, the cells were reprogrammed to induced pluripotent stem cells (iPSCs) and genome edited using the CRISPR/Cas9 gene editing technology to engineer cells with the same genetics (isogenic iPSC lines). Comprehensive analysis was next performed on the engineered cell lines to determine the MYL3 variant could lead to disease.

Traditionally, treating hypertrophic cardiomyopathy depends on whether a patient has symptoms and the severity of those symptoms. People who have “silent” hypertrophic cardiomyopathy without symptoms are not treated. For those with symptoms, physicians may recommend lifestyle changes such as adopting a heart-healthy diet, reducing stress and incorporating exercise while treating underlying illnesses that can make the condition worse. They may also prescribe medications for hypertrophic cardiomyopathy, typically reserving surgery for more severe cases.

“Given the diversity of the human genome – no one of us is identical to another – it is difficult to determine whether a genetic “variant” is meaningful or not. As a result, we risk treating patients with medications or more for a variant that, in the end, is benign,” said Circulation editor, Joseph A. Hill, M.D., Ph.D., chief of cardiology at UT Southwestern Medical Center in Dallas. “This study combined two new powerful technologies, induced pluripotent stem cells and CRISPR-Cas9 gene editing, to model a patient’s heart in a dish and to test whether those heart cells manifested signs of disease. This approach heralds a new era of in vitro disease modeling and drug testing as pivotal elements of precision medicine.”

Source:

https://newsroom.heart.org/news/gene-editing-technology-may-improve-accuracy-of-predicting-individuals-heart-disease-risk?preview=d22c

Tagged with:

About author

Related Articles