Building off previous groundbreaking research, a new study identifies genetic variants that have significant impacts on brain development and are shared across eight different psychiatric disorders.
Tag: genetic variants
Anne Bang joins $12.7M research project on the genetic basis of autism and schizophrenia
Scientists have linked neuropsychiatric disorders, such as schizophrenia and autism, to changes in many genes involved in early brain development. However, more research is needed to understand how these gene variants influence the biological mechanisms that underlie these disorders.
Stroke recovery: it’s in the genes
New research led by UCLA Health has found that specific genes may be related to the trajectory of recovery for stroke survivors, providing doctors insights useful for developing targeted therapies.
Researchers Identify New Genetic Risk Factors for Persistent HPV Infections
Human papillomavirus (HPV) is the second most common cancer-causing virus, accounting for 690,000 cervical and other cancers each year worldwide.
Researchers Identify New Genetic Risk Factors for Persistent HPV Infections
Human papillomavirus (HPV) is the second most common cancer-causing virus, accounting for 690,000 cervical and other cancers each year worldwide.
Genetic risk prediction for 10 chronic diseases moves closer to the clinic
As part of a nationwide collaboration, Broad Clinical Labs researchers have optimized 10 polygenic scores for use in clinical research as part of a study on how to implement genetic risk prediction for patients.
Researchers Connect Alzheimer’s-Associated Genetic Variants with Brain Cell Function
Led by scientists at UNC-Chapel Hill and UC-San Francisco, research reveals new non-coding genetic variants associated with Alzheimer’s disease functioning in microglia – brain cells already implicated in the progression of this often-fatal neurodegenerative condition.
Scientists Take Next Big Step in Understanding Genetics of Schizophrenia
Scientists figuring out which of the 5,000-plus genetic variants associated with schizophrenia have an actual causal effect in the development of the condition. Some of genetic variants regulate or alter the expression of genes involved in the condition.
Study provides genetic evidence on new osteoporosis drug heart attack risk
New research highlights potential safety concerns around women taking romosozumab, a new anti-osteoporosis drug available on the NHS. The University of Bristol-led study, published in Arthritis & Rheumatology, analysed genetic data on nearly 34,000 people.
Why We Want to Drink, What That Has to Do with Genes, and Why it Matters for Our Alcohol Risk
Motives for drinking — to party, to conform, to cope, or to feel good — are consistent through young adulthood, and genes play a role in how those motives influence alcohol use, a new study of college students suggests. Understanding the mechanisms linking genetic variants to differences in drinking behaviors could present opportunities for predicting individuals’ vulnerability to Alcohol Use Disorder (AUD) and intervening to prevent it. Genetic factors are responsible for about 50% of individual risk of AUD. Much of how that heritability functions is unexplained, however. The relationship between genes and drinking behavior is complex, involving thousands of genetic variants that each have small effects. Critical factors known as endophenotypes, or intermediary phenotypes, affect how an individual’s genetic predisposition manifests as a behavioral trait. For the new study in Alcoholism: Clinical & Environmental Research, investigators sought to determine whether drinking motives are o
Identifying the Underlying Causes of Ovarian Cancer
Two new discoveries led by Cedars-Sinai Cancer investigators help improve the understanding of what drives the development of ovarian cancer and why some women’s tumors do not respond to therapy.
All About Eve
New AI model called EVE, developed by scientists at Harvard Medical School and Oxford University, outperforms other AI methods in determining whether a gene variant is benign or disease-causing.
When applied to more than 36 million variants across 3,219 disease-associated proteins and genes, EVE indicated more than 256,000 human gene variants of unknown significance that should be reclassified as benign or pathogenic.
Researchers ID Congenital Heart Defect Gene Variants in People of Han Chinese Ethnicity
Article title: Identification of variants of ISL1 gene promoter and cellular functions in isolated ventricular septal defects Authors: Si-Qiang Zheng, Huan-Xin Chen, Xiao-Cheng Liu, Qin Yang, Guo-Wei He From the authors: “This study may provide new insights into the role…
AMP Publishes Recommendations to Facilitate Widespread Adoption of Genetic Variant Data Sharing Practices
The Association for Molecular Pathology (AMP) today released recommendations to support and facilitate sharing of variant data through the use of public repositories.
Mount Sinai Study Reveals Genetic and Cellular Mechanisms of Crohn’s Disease
New study identifies a novel approach for tailored treatment that could be more effective for patients with the chronic disease
Researchers Discover New Variant of COVID-19 Virus in Columbus, Ohio
Scientists have discovered a new variant of SARS-Cov-2, the virus that causes COVID-19. It carries a mutation identical to the U.K. strain, but it likely arose in a virus strain already in the U.S. The researchers also report the evolution of another U.S. strain that acquired three other gene mutations not previously seen together in SARS-CoV2.
New 3D maps reveal inner workings of immune cell gene expression
The COVID-19 pandemic has highlighted how our small genetic differences can have a tremendous effect on how our bodies respond to disease. Researchers have created 3D maps of how enhancer sequences and genes interact in several types of immune cells. Their new study opens the door to understanding individual risk for diseases from asthma to cancer.
Research News Tip Sheet: Story Ideas from Johns Hopkins Medicine
During the COVID-19 pandemic, Johns Hopkins Medicine Media Relations is focused on disseminating current, accurate and useful information to the public via the media. As part of that effort, we are distributing our “COVID-19 Tip Sheet: Story Ideas from Johns Hopkins” every Tuesday throughout the duration of the outbreak.