Next Generation Sequencing diagnostics for HSPs - Germany leading in HSP gene testing
Researchers in Germany have developed an “HSP-Panel” that will provide HSPers with cutting-edge gene testing services. Based on next-generation sequencing (NGS), they have packed 38 HSP genes together with 50 other genes responsible for clinically similar diseases onto the panel. This means that almost all known HSP genes can be screened for in one single examination, in a much shorter time frame, and at around the same cost as the limited testing currently available.
HSP gene testing advance in China - Success in detecting point mutations
Next generation gene testing - Helps identify non-SPG4 HSP
Sharing genetics knowledge - New software will aid progressThe widespread availability of new software to analyse large genomic datasets will provide a fast, powerful and flexible tool to enhance identification of the genetic causes of diseases such as HSP. A software tool (GEM.app) has been developed to annotate, manage, visualize, and analyze large genomic datasets (https://genomics.med.miami.edu/). GEM.app currently contains ~1,600 whole exomes from 50 different phenotypes studied by 40 principal investigators from 15 different countries.
Calf muscle spasticity studied - Lengthening the muscle may help
Nerve conduction impairment in HSP studied - Signals to and from the brain are very differentThe nerves that take signals from the brain to the legs and feet do so normally in HSPers, but different nerves that bring the signal to the brain from the feet are where the abnormal delay happens due to slow conduction times.
The blood-brain barrier