Amelia Lavenski is a 4-year-old girl from Anne Arundel County, Maryland, who has a bright personality and loves laughing and Mickey Mouse. “Every day, she smiles at something new,” says Amelia’s mother, Stephanie. Amelia was diagnosed with epilepsy – a neurological condition that causes seizures, which she started having when she was 15 months old. … Read more
A pioneering study led by Professor Ashok Venkitaraman from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore and Dr Mona Shehata from the University of Cambridge (UK) has uncovered vital insights into the distinct effects of BRCA2 mutations on breast tissue cells, shedding light on early breast cancer development … Read more
Rett syndrome is a rare devastating neurological disorder that primarily affects young girls and manifests as an impaired ability to walk and talk, along with characteristic ‘hand-wringing’ movements, seizures, and cognitive disability. This incurable condition results from mutations in the methyl-CpG binding protein 2 (MECP2) gene that impairs the role of the MeCP2 protein in … Read more
New research from Queen Mary University of London, published in iScience, shows an increased risk of blood clots in women who have any combination of a particular gene mutation, estrogen use, or common medical conditions – specifically: obesity, high blood pressure, high cholesterol, and kidney disease. Women with the Factor V Leiden (FVL) gene mutation … Read more
A change in just one letter in the code that makes up a cancer-causing gene can significantly affect how aggressive a tumor is or how well a patient with cancer responds to a particular therapy. A new, very precise gene-editing tool created by Weill Cornell Medicine investigators will enable scientists to study the impact of … Read more
Previous research has revealed that the Apolipoprotein-ε4 (APOE-ε4) allele increases the risk for a variety of diseases in aging populations, specifically Alzheimer’s and cardiovascular disease. And yet, despite its negative effects, this allele remains prevalent in approximately 20% of the human population. In a quest to determine how this negative allele is surviving natural selection, … Read more