Finding might explain why the disorder is never identical in patients, could improve diagnosis and treatment WebMD News from HealthDay By Robert Preidt HealthDay Reporter MONDAY, Dec. 22, 2014 (HealthDay News) -- Different types of gene mutations may play a role in the severity and type of autism, new research suggests. The findings could lead to improved diagnosis and treatments for the disorder, the researchers added. No two people with autism have the exact type and severity of behaviors, according to background information from the study. Investigators analyzed hundreds of autism patients and nearly 1,000 genes to determine how gene mutations influence autism symptoms. They found that more damaging genetic mutations usually result in more severe autism symptoms, that autism patients with little or no verbal skills often have mutations in genes that are more active in the brain, and that those with less severe autism symptoms were less likely to have mutations that completely shut down genes. The researchers also found that gene mutations play a role in gender differences in autism. While autism is far more common in males, females with autism are more likely to have severe symptoms. The genes that are mutated in females with autism … Continue reading →

A new genetics project could help "unlock a series of secrets about devastating diseases", the NHS says. Under the scheme, 11 Genomics Medicine Centres are being set up in English hospitals to gather DNA samples to help devise targeted treatments for a wide range of diseases. It is focusing on cancer and rare genetic diseases. The aim is to sequence 100,000 genomes within three years in order to develop new tests and drugs. Doctors will offer suitable patients the opportunity to take part in the scheme. They will have to agree to have their genetic code and medical records - stripped of anything that could identify them - made available to drugs companies and researchers. Up to 25,000 cancer patients will have the genetic code of their healthy tissue compared to the genetic code of their tumour. A giant game of spot-the-difference will then take place to identify the precise mutations in DNA that are causing a patient's tumour. This would allow targeted medicines to be developed. Genetic code Go here to read the rest: NHS DNA Scheme To Fight Cancer And Genetic Diseases … Continue reading →

During a conversation I had with a doctor a couple of years ago, the subject of cancer diagnoses came up, in a tangential way. She said that not all that many decades ago, a physician who had established that a patient had cancer often wouldnt bother investigating further: since there werent any effective treatments for any kind of cancer, there wasnt much point in finding out what kind of cancer it was. You could try to cut it out, or you could leave it in and see what happened, and that was about it. Now, of course, that has changed. It matters what cancer you have, because different cancers respond differently to different treatments. As we get better at treating the disease, it pushes us to get better at differentiating them; as we establish the various kinds, it allows us to target drugs more precisely at the ones they work on, so that the drugs themselves become more effective. There is a virtuous circle between diagnostics and treatment that improves both. Thats why the news that the NHS is to open 11 major genomics centres with more to follow around the country is so hugely positive. Over the past few … Continue reading →