DNA (deoxyribonucleic acid) is your genetic code; it is present in almost every cell in your body and contains the instructions needed to build and maintain all of your tissues. Only the parts of the DNA relevant to a particular cell type are “read.” For example brain cells read the DNA instructions needed for brain function, but not the instructions specific to skin cells.

RNA (ribonucleic acid) is a genetic copy of the sections of DNA that a cell is actively using.. These RNA copies are then generally translated into proteins, allowing the cell to function.

Proteins are biological molecules that are essential for life and are made up of subunits called amino acids. Their structure and function depend on the DNA or RNA sequences that encode them.

Variations in the DNA and RNA codes can alter protein structure and may contribute to disease, helping researchers understand disease mechanisms.

Genetics focuses on individual genes and how they are inherited. Genetic tests are able to identify a specific gene or variation in a family.

Genomics examines all genes together (the genome) and how they interact with each other and the environmental factors. Genomic tests can analyse many more genes at once, including the entire DNA sequence through Whole Genome Sequencing.

Whole Genome Sequencing provides a complete ‘read out’ of all your DNA. Your genome is unique to you, however, some of it is shared with your relatives. Comparing genomes helps researchers understand why diseases occur and how they may affect individuals differently.

RNA is similar to DNA, but is single-stranded and is short-lived within the cell. It plays an active role in regulating when and how genes are expressed. Studying RNA can reveal how gene activity differs between people with rare diseases and healthy individuals.

Around 1,000 people's RNA with specific rare diseases will have their RNA analysed to help identify new genetic associations and disease mechanisms. While this might not benefit the participants directly, it contributes to a broader understanding of rare diseases.

Neutrophils

Neutrophils are abundant white blood cells, with around 100 billion produced daily. They patrol the body for microorganisms and are the first responders to infection, where they ingest and destroy invading bacteria. They are a vital part of the immune system.

Monocytes

Monocytes are adaptable white blood cells that respond to signals in the body and help repair damaged tissue. They also recruit other immune cells and play roles in conditions such as cancer, neurodegenerative diseases and obesity.

T Helper cells

T helper cells coordinate immune responses. They help other immune cells respond to infection and inflammation. They also activate B cells, which produce antibodies and can remember infections to provide faster responses in the future.

Platelets

Platelets are small cell fragments produced in the bone marrow. They help blood clot, stop bleeding and heal wounds by forming a platelet plug at the site of injury.

The 50ml blood sample arrives in the laboratory and is processed immediately.

Step 1: Plasma and platelet separation

A small portion of the sample is set aside for DNA extraction. The rest is spun at high speed so the lighter plasma rises to the top. The plasma is removed and magnetic beads are used to separate the platelets. Both plasma and platelets are then frozen.

Step 2: Removing red blood cells

The remaining blood is layered over a dense gel and spun again. Red blood cells sink into the gel, allowing the white blood cells (including neutrophils, monocytes and T helper cells) to be collected.

Step 3: Isolating specific cell types

White blood cells are separated using magnetic beads that bind to specific cell types. When the tube is placed on a magnet, the beads and attached cells move to the side. These cells are washed, frozen and stored at –80°C. This process is repeated for each cell type.

Step 4: Extracting RNA

On the second day, RNA is extracted by breaking open the cells, and isolating the RNA. It is then cleaned and measured for purity before being prepared for sequencing. DNA extraction follows a similar process.