Exploring the literature on SPG15 mechanisms

Motivation Back in July, one of our users told us about Maddi Thurgood, a 16-year-old girl diagnosed with SPG15, and asked if we knew of any relevant data or contacts. SPG15 is a neurodegenerative disorder within the category of Hereditary Spastic Paraplegias. In this modern ...

What we learnt from building a User Council

One of the guiding principles for the team at Repositive is to build something that solves a problem and is actually useful to people. Therefore, we are committed to working with user centred design (UCD). "Usability goals, user characteristics, environment, tasks and workflow of a ...

2017 GA4GH Plenary Meeting Highlights

October 15-17, Hilton Orlando, Florida Repositive is pleased to participate and contribute to the Global Alliance for Genomics and Health (GA4GH) as one of its members. GA4GH’s Plenary Meeting held on October 15-17th 2017 was the chosen venue to announce the new vision for ...

A brief summary of ‘Genomic Medicine 2017 Cambridge’ 26-27 September

I am happy to give a brief summary of most presentations that formed part of the program of the ‘Genomic Medicine Conference 2017 Cambridge’, just being held on September 26-27th at the Murray Edwards College in Cambridge, UK. It was organised by Biotexcel. It was ...

20 days of searching for Spastic Paraplegia Gene 15

Spastic Paraplegia Type 15 is a rare disease causing the motor neurons in the brain to waste away and die. This causes a breakdown in the communication between the brain, spinal cord and muscles. For sufferers like Maddi it can affect the use of limbs ...