Genetics blog post

After discovering its link to a tumor suppressor gene, Australian researchers have found a novel neurodevelopmental condition. The Murdoch Children's Research Institute (MCRI) conducted an international research team that linked a known tumor suppressor gene to a novel neurodevelopmental disease, putting an end to the diagnostic journey for 32 families throughout the world. Variations in the FBXW7 gene were linked to the newly identified disorder, which causes “mild to severe developmental delay, intellectual disability, hypotonia, and gastrointestinal problems,” according to the study. Because the FBXW7 gene regulates cell life-cycle, cell growth, and cell survival, the research team hypothesized that abnormal cell proliferation during brain development could underpin the wide range of brain abnormalities seen in this new disorder, according to Murdoch Children's researcher Dr Sarah Stephenson. According to this article, The researchers employed cutting-edge diagnostic methods...

In the biggest study of Alzheimer's disease genetic risk to date, researchers discovered an additional 42 genes linked to the disease's development. The study has been going on for 30 years now, as said by co-author Julie Williams, center director at the UK Dementia Research Institute at Cardiff University. She also added that s moking, exercise, and diet are all factors that impact the development of Alzheimer's disease, and taking steps to address them now is a good strategy to reduce our risk. However, Williams also said " 60-80% of disease risk is based on our genetics and therefore we must continue to seek out the biological causes and develop much-needed treatments for the millions of people affected worldwide." Apart from the well-known APOE e4 gene and the production of amyloid-beta and tau, two signature proteins that pile up in the brain with disastrous consequences as Alzheimer's progress, the previously unknown genes suggest new pathways for diseas...