Did you know that almost 36 million people in the EU live with a rare disease and the number goes up to 350 million worldwide? These diseases are an important cause of chronic illness, disability, and premature death in children as well as adults.

A rare disease is any disease that affects a very small percentage of the population. It has no single accepted definition; however, countries define it based on the prevalence and other factors such as the existence of a treatment and the severity of the disease. According to the European Commission, a rare disease is defined as a “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them”. Low prevalence is having lesser than 1 in 2000 people affected. In the United States, the Rare Disease Act of 2002 defines rare diseases specifically based on their prevalence as “any disease or condition that affects fewer than 200,000 people in the United States”.

Most of the rare diseases are genetic, which means they can be very difficult to diagnose. Many appear early in life and almost 30% percent of the children affected by them are not able to reach their 5^th birthday. As of February 2020, there are over 7000 identified rare and neglected diseases for which we know the molecular cause of, but only for about 500 of them there have been treatments approved.

Rare Disease Day is observed on the last day of February to raise awareness for these illnesses, increase access to their treatments, and create greater medical representation for the patients as well as their families. The day was established in 2008 by the European Organisation for Rare Diseases (EURORDIS), and the first Rare Disease Day was the 29^th of February 2008, as it was a “rare” day.

Since less than 1% of the identified diseases have approved treatments, it is important that for those that do have one are administered successfully. This can however result difficult, as many of these medications and the medical research processes behind them involve the use of blood and plasma. A leading Rare Disease research organisation claims that 1 litres of human blood plasma can be used in 17 different products to fight rare diseases, so it is critical that these samples are always stored safely, as they are extremely temperature-sensitive.

In fact, any research or therapeutical activity can only be done if the plasma was stored properly under correct temperatures as otherwise it could result degraded by suboptimal environmental conditions or even contaminated by microorganisms.

Blood plasma needs to be frozen within 24hr of being donated to preserve its important clotting factors and should be stored frozen at temperatures below -30°C, according to the recommendations of the European Medicines Agency. Contact Shock Freezers by B Medical Systems are designed for the fast cooling of plasma bags to the required core temperature. At B Medical Systems, we ensure that blood and its components are stored and transported securely to ensure the successful research of all diseases, including the rarest ones.