Carrier screening can prevent disease in families, but some doubt that it can change population-level incidence of disease. One in 100 babies worldwide is born with a disease caused by a single gene, according to the World Health Organization. Two genetics companiesCounsyl and GoodStart Geneticsare now using low-cost sequencing as a way to provide a more comprehensive look at parents genes than has previously been available. The companies hope to better inform prospective parents about hidden single-gene diseases and potentially reduce their incidence. Although most of these individual single-gene disease are rare, collectively they account for about 20 percent of infant deaths. When a disease gene is recessive, as is the case with sickle-cell anemia, Tay-Sachs, or cystic fibrosis, parents are unlikely to know they are carriers. If both parents carry a broken copy, they will have a 25 percent chance of having a child with the condition. Doctors do screen prospective or expecting parents for a handful of diseases, but these tests are limited. Traditionally, the tests look for specific mutations for a particular disease, while the condition could be caused by many different mutations that are passed from generation to generation. Generally, these tests top out at around … Continue reading →

Scientists have created genetically-engineered mice with artificial human chromosomes in every cell of their bodies, as part of a series of studies showing that it may be possible to treat genetic diseases with a radically new form of gene therapy. Click image above to enlarge graphic In one of the unpublished studies, researchers made a human artificial chromosome in the laboratory from chemical building blocks rather than chipping away at an existing human chromosome, indicating the increasingly powerful technology behind the new field of synthetic biology. The development comes as the Government announces today that it will invest tens of millions of pounds in synthetic biology research in Britain, including an international project to construct all the 16 individual chromosomes of the yeast fungus in order to produce the first synthetic organism with a complex genome. A synthetic yeast with man-made chromosomes could eventually be used as a platform for making new kinds of biological materials, such as antibiotics or vaccines, while human artificial chromosomes could be used to introduce healthy copies of genes into the diseased organs or tissues of people with genetic illnesses, scientists said. Researchers involved in the synthetic yeast project emphasised at a briefing in London … Continue reading →

Public release date: 11-Jul-2013 [ | E-mail | Share ] Contact: Jia Liu liujia@genomics.cn BGI Shenzhen July 11, 2013, Shenzhen, China - An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD). The results show that whole genome sequencing and analysis promise great value to identify de novo or rare inherited mutations that give rise to autism in ASD groups. The findings were published online today in American Journal of Human Genetics. Autism is the fastest growing developmental disorder in the United States, or even the whole world. It is estimated that 1 in every 88 children in the United States is diagnosed with autism, which is greater than the prevalence of pediatric AIDS, cancer, and diabetes combined. It can rob the individual of typical development from childhood to adolescence to adulthood, and bring huge burden on the families. The discoveries of genetic mutations can substantially increase people's understanding of the underlying biology of autism. In this study, researchers surveyed all the risk mutations in ASD patient groups by whole genome sequencing (WGS), and … Continue reading →

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Thor, an athletic 7-year-old Catahoula leopard hound, lay on a table at the Animal Clinic of Billings, panting lightly while staffers put small bags over his feet and temperature-controlled packs on his chest before the anesthesia kicked in. Not long after he went under, those same staff members carried Thor to an operating table where his owner, Dr. Bobbi Jo Massic, who is also a veterinarian at the clinic, made a small incision in his abdomen, the first step in a cutting-edge process designed to help the alleviate the dogs hip dysplasia and arthritis. By the end of Tuesday, Thor became the very first patient in the clinics brand new animal stem cell therapy program. This is a very exciting day, said Dr. Bryna Felchle, another vet at the clinic who will help spearhead the program. Were launching our very first stem cell therapy right here. The process is widespread across the United States, but Felchle is just the second vet in Montana certified to perform the procedure and the only one in the eastern half of the state. Generally, it involves removing fatty tissue from an animal, separating the stem cells from that tissue, activating the cells and then … Continue reading →