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Medical genetics

SRC-1 Gene Variants Linked to Human Obesity

Maintaining a healthy body weight is no simple matter. A better understanding of how the body regulates appetite could help tip the scale toward the healthy side. Contributing toward this goal, a team led by researchers at Baylor College of Medicine and the University of Cambridge reports in the journal Nature Communications that the gene SRC-1…

medical genetics

Gene to Monkey Genome in Controversial Experiment

A team of researchers working in China has created several transgenic rhesus monkeys by adding a human gene involved in brain growth to the monkey’s genome. In their paper published in the National Science Review; the group describes their work and the testing they conduct on the monkeys after they were born. Bioscientists are making moves…

Medical genetics

Cancer Fighting Gene also Protects Against Birth Defects

New research has revealed how the famous tumour suppressor gene p53 is surprisingly critical for development of the neural tube in female embryos. This is important because healthy development of the neural tube is needed for the brain and the spinal cord to form properly. The study, published today in the journal Cell Reports; explained p53’s involvement…

Medical genetics

New Tool Helps Find Genetic Culprits In Cancer's Spread

The ability of cancer to establish itself in distant parts of the body called metastasis causes 90% of deaths from solid tumors. Metastasis is the result of complex genetic interactions that have proven difficult for scientists to study. Now Yale researchers have devised a way to identify some of the most dangerous of those interactions;…

Medical genetics

Gene Editing for Recessive Dystrophic Epidermolysis Bullosa

A group of researchers from the Centro de Investigación Biomédica en Red de Enfermedades Raras (Biomedical Research Networking Centre on Rare Diseases), Universidad Carlos III de Madrid, the Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas and the Instituto de Investigación Sanitaria Fundación Jiménez Díaz have led a study which demonstrates the viability of a gene…

Medical Genetics

Change The Way Gene Editing Is Approached In Future

Gene editing has been a much sought after and controversial technology. Last month, part of the World Health Organization called for an international registry to track all research into editing the human genome. Because Purdue University researchers, including one who was inspired by the cancer death of a close friend, have developed a new technology…

Medical genetics

Genes and Genealogy and Making the Most of Famous Relations

Genealogy on my mother’s side shows relations to the storied court of Queen Elizabeth I in Shakespeare’s England and the current cast of “Game of Thrones.” “Games of Thrones” star Kit Harington (Jon Snow, King in the North) is a multiple great-grandson of Sir John Harington (1560-1612)  a godson to Queen Elizabeth I and a…

Medical genetics

Study Debunks 'Depression Genes' Hypotheses

Over the past quarter-century, researchers have published hundreds of studies suggesting a small set of particular genes or gene-variants plays a substantial role in boosting susceptibility to depression. Such papers fueled hopes that clinicians could soon use genetic testing to simply identify those at risk, and drug companies could develop medications to counteract a few…

Medical Genetics

Genetic Mutations Promote Regeneration After Liver Damage

Researchers at the Children’s Medical Center Research Institute at UT Southwestern (CRI) have identified genetic mutations that accumulate in the adult liver that can promote regeneration in the context of chronic liver damage. Researchers show that mutations in human livers can promote tissue regeneration. Healthy people The widespread use of genome sequencing has led to…

Medical genetics

Jumping Genes' Drive Many Cancers

Mistakes in DNA are known to drive cancer growth. But a new study, from Washington University School of Medicine in St. Louis, heavily implicates a genetic phenomenon commonly known as “jumping genes” in the growth of tumors. The study is publish March 29 in the journal Nature Genetics. Since jumping genes aren’t mutation mistakes in…

Medical Genetics

Need To Increase Diversity Within Genetic Data Sets

Polygenic scores can predict a person’s risk for conditions like coronary artery disease, breast cancer; and type 2 diabetes (T2D) with great accuracy; even in patients who lack common warning signs. This new genome analysis tool holds promise for physicians, who may be able to intervene earlier to help prevent common disease for at-risk individuals.…

Medical genetics

A New Gene Involved In The Development Of Endocrine Tumor

Paragangliomas and phaeochromocytomas are very rare neuroendocrine tumours, with only three to eight cases per million inhabitants worldwide. They are also the most inheritable types of tumours. Whereas in general terms, cancer is only 5 to 10 % inherited, 35 to 40 % of paragangliomas are hereditary. It is know that many of these tumours…