Working with genomic scientists Mauro Petrillo and Valentina Paracchini, our aim was to produce a work that considers the importance of sharing human genomic data. This is necessary in order to understand mechanisms and origin of rare genetic diseases and to find new treatments and possible cures for them. We decided to explore this through the lens of the eye disease retinitis pigmentosa (RP), a group of rare, genetic disorders that that affect the light sensors in the eyes of the sufferer and causes loss of vision. Unfortunately RP is incurable. .
A genome includes an intricately complex system of genes (humans have about 22,000 genes) which encode for an incredible number of products (mostly as proteins). Both genes and products, by performing their function and by interacting each other through mechanisms evolved over millennia, enable our biological bodies to function successfully. Scientists all over the world are working to decipher this most elaborate puzzle. Understanding how a gene programs its proteins, interacts with its counterparts or malfunctions, necessitates sharing the knowledge gained by studying each of them. Further to this, researchers are discovering more about how external environmental factors can have direct influence on how our genes express.
No one individual or laboratory could begin to comprehend all there is to understand about genetics. It requires amalgamating all of the data at a collective level in order to understand what happens at an individual level. To achieve this understanding people from a variety of backgrounds and geographical locations and must be willing to allow their genetic data to be shared amongst the scientific community.
On 10 April 2018, 13 European countries (nowadays 20) have signed a declaration for delivering cross-border access to their genomic information: sharing more genomic data will improve understanding and prevention of disease, allowing for more personalised treatments (and targeted drug prescription), in particular for rare diseases and cancer. The European Commission is support Member States in setting up a voluntary coordination mechanism of public authorities.
My own practice involves the selection of a particular material whose area of habitual function is the object of enquiry. When visiting the laboratories at JRC I encountered distinct forms of computer chips used in genetic research - flowcells, microarrays and DNA sequencing machines. Initially seduced by the way they refracted and reflected light, my interest in them furthered once I learned their purpose within genetic research. Functioning as vessels for DNA, they carry this biological material into the belly of computer system via a specialized scanner. Here, the genetic sequence is essentially read by computer software, and becomes part of the expanding global pool of data being generated in order to understand how genes operate.
These chips are a physical meeting point between the biological matter of DNA and digital technology. Beyond their task to carry genetic material, they also bear a symbolic load - there is a great responsibility that comes along with deciphering this most fundamental and complex system of biological life.
The formation of the suspended installation is based on the crystal structure of the retinitis pigmentosa GTPase regulator (RPGR) protein, determined in 2013 (https://www.rcsb.org/structure/4JHN).This protein is encoded by a gene (rpgr) which is located on X chromosome: its function is most probably in regulating cell cilia formation, hair‐like sensory organelles found on almost all human cells. Mutations occurring at DNA levels result as alteration in the shape of the protein, which is not able to function as expected thus causing one of the most severe form of retinitis pigmentosa. Some of the mutations occurring on the rpgr gene affect not only eye vision, but also the respiratory and hearing systems, leading to chronic watery sputum with chronic cough, chronic sinusitis and sensorineural hearing loss.