Researchers at Kuwait University and Amri Hospital, Kuwait have been the first to study the risk of the FTO allele rs9939609 on disability progression in patients with multiple sclerosis (MS). This allele has been thoroughly studied in its link with obesity, however no study has linked the FTO gene to MS
A new non-invasive method to detect the presence of human papilloma virus (HPV)-16 in saliva has been successfully used in a collaboration between Duke University, UCLA, and University of Birmingham. HPV-16 is a high-risk virus known to be an etiologic agent for the development of head and neck cancers, specifically with oropharyngeal caners (OPCs).
Scientists at Massachusetts General Hospital (MGH) and the Psychiatric Genomics Consortium have discovered that many distinct psychiatric diseases share a common genetic basis. More than 100 genetic variants were found to play a role in determining risk levels for different mental health conditions.
Researchers at University of California San Diego School of Medicine have discovered a genetic variation that influences the expression of the mutant CFTR protein on the cell surface of Cystic Fibrosis sufferers.
We met with Chris Wigley, CEO and Sir Mark Caulfield, Chief Scientist at Genomics England, at the first Genomics England Research conference taking place in November 2019 in London. We started by asking them how Genomics England is getting on with their objectives.
The immunotherapy drug Blinatumomab has shown to be an effective treatment for children and young adults with relapsed B-cell acute lymphoblastic leukaemia in a clinical trial led by the Children’s Oncology Group, part of the National Cancer Institute USA, and presented at the annual meeting at the American Society of Haematology.
Researchers at Lancaster University have been the first to discover a genetic alteration that increases the risk of developing Autism Spectrum Disorder and Tourette Syndrome, as published in the journal Cerebral Cortex. Their findings suggest that ketamine, or related drugs, may be a useful treatment for both disorders.
The cause of a rare type of familial epilepsy has been linked to two new gene mutations, as discovered by researchers from the Walter and Eliza Hall Institute. Published back-to-back in Nature Communications, Dr Mark Bennett, Dr Haloom Rafehi and Professor Melanie Bahlo from the Institute made this ground-breaking discovery as part of an international consortium.
Researchers at the Wellcome Sanger Institute uncovered a possible pre-cancerous signature for Wilms’ tumour, a form of kidney cancer mainly affecting children under five years old. Published in Science, the research was the first to compare Wilms’ tumour tissue and healthy kidney tissue to identify any genetic changes that could possibly be predictive of disease progression.
The analysis of rare genomic copy number variants (CNVs) in siblings of a proband with autism spectrum disorder (ASD) could be used to predict the likelihood of developing ASD themselves, according to an article published today in Nature.
A new study by Northwestern Medicine has become the first to compare gene expression levels in African American populations by studying the levels of mRNA expressed in the liver. Previous studies have compared only African and European individuals separately and this study aimed to address the “grey” area of mixed ethnicities.
The Environmental Determinants of Diabetes in the Young or TEDDY is the largest study of its kind measuring new-borns with an increased risk of Type 1 Diabetes (T1D). The study published in Nature Medicine has uncovered an association between a genetic variant of a pancreatic cell surface-receptor and long-term viral infections.
Brain networks associated with suicide have been identified by examining brain images from the past two decades. The study published in Molecular Psychiatry found changes in the prefrontal cortex were important risk factors in suicidal thoughts and behaviours. 800,000 people die globally by suicide every year – one every 40 seconds. It is the second […]