The NSW state government will permanently fund screening for a rare but devastating genetic disorder with a high infant death rate, after a study conducted in Sydney showed early therapy could turn diagnosis from a “heart-sink” to a treatable condition.
Of the 29 babies with spinal muscular atrophy (SMA) who took part in a global trial of a new gene therapy, including four treated at Sydney Children’s Hospital, all reached 18 months and the majority achieved their developmental milestones, such as sitting independently and walking.
Pancreatic Cancer is the 3rd biggest killer of all cancers (set to rise to 2nd place) and despite this, there are still no effective diagnostic tools or treatments available. Oncoparse wants to change this by developing a next-generation diagnostic assay that will use a simple blood test to determine the Tumour DNA levels in the body allowing clinicians to make agile and informed decisions on patient treatment plans. Oncoparse is currently growing and would like to invite interested parties - be it to invest, join us in the labs or share experiences - to reach out to Martin (firstname.lastname@example.org).
Michelle Roberts, BBC Digital health editor reports that a man in France with advanced Parkinson's disease has been helped to walk again with a special implant that stimulates nerves in his spine.How is works: The stimulator sits on the lumbar region of the spinal cord, which sends messages to the leg muscles. The man in question, Marc Gauthier, is still in control - his brain gives the instructions - but the epidural implant adds electrical signals for a smoother end result.For more information: https://www.bbc.com/news/health-67295526Original research in the journal Nature Medicine: https://rb.gy/ib6tzi