Each one of us receives approximately 60 new mutations in our genome from our parents.
This striking value is reported in the first-ever direct measure of new mutations coming from mother and father in whole human genomes published today.
For the first time, researchers have been able to answer the questions: how many new mutations does a child have and did most of them come from mum or dad? The researchers measured directly the numbers of mutations in two families, using whole genome sequences from the 1000 Genomes Project. The results also reveal that human genomes, like all genomes, are changed
Pier Paolo Parnigotto with Mariateresa Conconi
After a trachea transplant that was not rejected, performed in Barcelona by Italian surgeon Paolo Macchiarini, soon other organs and biotech tissues will be reconstructed in the lab thanks to a technique developed by the University of Padova. Bones, livers, the esophagus, pancreases, and muscles will be next, in research that will possibly take place in the Veneto. According to Pierpaolo Parnigotto, 61 year old professor of anatomy, who together with Maria Teresa Conconi carried out tissue engineering research for 15 years in the development of biotech organ grafts that
The prospect of treating genetic diseases with corrected stem cells grown from patients’ own bodies has moved closer, after the results of a remarkable experiment.
Scientists have successfully reprogrammed skin tissue from people with a rare form of anaemia to create powerful stem cells, while at the same time rectifying the genetic defect that causes the condition.
The corrected stem cells could be grown into blood precursor cells for therapy. As these would carry a patient’s own DNA, except for the mutation responsible for the illness, they could be transplanted without risk of rejection by the body’s immune system.
Though the research
Researchers at Johns Hopkins have found a better way to create induced pluripotent stem (iPS) cells—adult cells reprogrammed with the properties of embryonic stem cells—from a small blood sample. This new method, described last week in Cell Research, avoids creating DNA changes that could lead to tumor formation.
“These iPS cells are much safer than ones made with previous technologies because they don’t involve integrating foreign viruses that can potentially lead to uncontrolled, cancerous cell growth,” says Linzhao Cheng, Ph.D., an associate professor of medicine in the Division of Hematology and a
Mental retardation, altered facial characteristics, and heart problems are all problems suffered by children affected by Costello syndrome, a genetic disease that is being studied by researchers in Milan at the Italian Foundation for Cancer Research (FIRC) Institute of molecular oncology (IFOM) using the zebrafish as a model.
The cause of the disease – explained the scientists in the January issue of ‘Disease Models & Mechanisms’ monthly magazine – is a mutation of the Ras gene, the same alteration observed in 20pct of tumors. One out of every five cases of cancer and the rare genetic disease have a common