MedWatch: genes, genetic tests and newborn screening

Yes, my favourite subjects. This time, I’ve collected all the most important announcements and news on these fields. And I must include a video on the Mysteries of the Human Genome…

The new technique enabled them to rapidly analyze more than 200,000 gene interactions. Each yeast colony grows in a tiny spot on an agar plate, and each plate holds around 750 colonies. Software makes it possible to determine the growth rate of each colony and then compare the effect on growth of eliminating one gene at a time with the effect when two genes are simultaneously disabled.

A large proportion of genetically caused deafness in humans may be reversible by compensating for a missing protein, based on discoveries in mice… There are millions of deaf people affected by mutations in this one gene, connexin26. Gene therapy, which has very few successful cases so far, may not be necessary,” explains Dr. Lin… a drug to boost connexin26 may be all that is needed.

Australian researchers have developed a low-cost genetic diagnostic test for Parkinson’s Disease (PD). The new method employs a ‘gene-sequencing chip’ that screens 17 genes in all, including the six known Parkinson’s disease genes plus some other suspects in one simple test. Volunteers are being sought for both the PD GeneChip trial and the Australia-wide PD gene mapping study.

National experts convened last week to review components of the newborn screening (NBS) process and actions needed to maintain vital NBS and genetic services during and after a disaster such as a hurricane or terrorist attack… The aim is to develop disaster response tools that can be adapted locally, regionally and nationally to ensure that infants at any step in the NBS system, ranging from the newborn heel-stick screen through laboratory testing, diagnosis and long-term management, are able to complete screening in a timely way and maintain their access to critical treatments and specialist care providers.