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In the past, developing drugs for rare diseases could take over a decade and cost over a billion dollars which is why pharmaceutical companies couldn’t afford to invest their resources in creating these cures. However, modern advances in medical technology are now allowing companies to venture into unchartered waters to provide effective treatments for rare medical conditions.
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1. Enabling Accurate diagnoses
A recent study found that up to 88% of first diagnoses by physicians are incorrect – a truly shocking statistic in this day and age! However, progress in Artificial intelligence (AI) in healthcare allows algorithms to analyse complex medical data in order to provide far more accurate diagnoses. AIs such as IBM’s Watson review and process vast amounts of patient data to influence better diagnosis. Since AIs can process far more data than a single human being, they are especially effective in diagnosing rare conditions which remain largely unknown to most doctors as they are uncommon diseases.
2. Treatment through gene editing
CRISPR is a revolutionary gene editing technology that is cheaper and more efficient than previous strategies for modifying DNA. The FDA has approved studies of CRISPR-based drugs for the treatment of rare genetic diseases such as Hunter syndrome. Hunter syndrome is a rare genetic mutation that results in a missing enzyme (which is crucial for the breakdown of certain sugars). Due to this missing enzyme, the individual suffers from brain damage, organ problems and early death. In a recent case, a man suffering from Hunter syndrome was injected with gene-editing tools which would enable cells in his liver to create the missing enzyme.
3. Providing Predictive analytics
Predictive analytics coupled with large scale health data can help with pattern recognition. This allows the system to predict which patients are at risk for developing a certain condition based on their environment, genetics or lifestyle. This helps doctors make timely decisions especially in the care of rare conditions which would otherwise go undetected.
4. Finding new applications for existing drugs
The normal procedure for the development of new drugs is time consuming and very expensive. However, a new method that uses advancements in AI can cure rare diseases at twice the speed and at only a fraction of the cost. This is achieved by curating and classifying rare diseases along with a similar system for various existing drugs and nutrients. The algorithms then look for matches between the two in order to determine if existing medications in the market may be used to treat any of these rare conditions. One of the potential matches was for a rare neurological disease called Fragile X that causes learning disabilities and cognitive impairment. The combination of existing drugs has worked pre-clinically and is set to go to clinical trials. If the regular drug development method was used, it would have cost tens of millions and taken 5 years but with the new system, it has taken about 18 months and cost just 100,000 dollars.
5. Eye-tracking technology for communication
Rett syndrome is a rare neurological genetic brain disorder which typically manifests in female babies within 6 to 18 months. This condition results in problems with coordination and many girls affected by this condition are never able to speak or walk again. Until recently, there were only rudimentary means of communication but eye-tracking technology now allows these children to communicate through various apps which increases the room for personal growth and development.
6. Surgical implants to fight vision loss
Retinitis pigmentosa (RP) is a group of rare, genetic disorders that result in the loss of rods and cones within the eye leading to the loss of peripheral vision and the development of tunnel vision. A recent breakthrough in the form of a bionic eye offers hope to patients suffering from this condition as it allows them to see their surroundings and can even allow some patients to read large-print text.
7. Innovative Skin Protective Clothing
Epidermolysis bullosa (EB) is a group of genetic conditions that result in the formation of blisters on the skin following mild trauma. A common complication of this condition is the need for amputation due to extensive skin injury. Children with this rare condition are often referred to as “butterfly children” since their skin is as fragile as the wings of a butterfly. Innovative ultra-low-friction clothing is made out of a two-layer fabric that glides smoothly against itself which absorbs the harmful friction, thereby preventing skin damage.
8. Nanotechnology-based delivery systems
Niemann Pick Type C1 disease (NPC1) is a very rare condition that affects approximately 1 in 120,000 children globally. NPC1 results in the abnormal accumulation of cholesterol which leads to neurodegeneration and eventual death as there is no cure or treatment for this condition. However, clinical trials found that there was a compound that could offer some hope but the high dosage required for the treatment would result in significant hearing loss and lung damage. Scientists have recently outlined a nanotechnology-based delivery system which would require a much lower dose and therefore reduce the severity of the side effects of the compound.
Innovations in medical technology continue to push the boundaries and provide new medications and treatments for rare conditions as well as common ailments when traditional treatments are not effective. For instance, researchers are currently investigating the use of focused ultrasound treatments to control a type of epilepsy in which seizures cannot be controlled with medication. While there is no denying that medical technology has come a long way, many scientists say that this is only the beginning.