When going to a clinical consultation, one of the risks is receiving a diagnosis of a rare disease. These diseases are usually characterized by being chronic and degenerative, in most cases serious and even disabling, so patients usually suffer great frustration that can lead to social isolation. 

Currently, there are approximately 7,100 Rare Diseases in the world. Despite being called ‘rare’, the reality is that between 3.6% and 5.8% of the population suffers from one of these diseases, which represents about 310 million people. To this, we must add the dissatisfaction of 46.4% of patients with the health care received, the high economic costs, the need to travel and even the discrimination that some suffer due to their condition.

That is why the health sector has begun to rely on technology to take on the challenge posed by Rare Diseases.

Technology can reduce diagnosis times in patients with Pathology and Rare Diseases

In most cases, the severity of rare diseases increases due to the delay in diagnosis as the disease continues to advance and worsen. One of the main problems is the lack of experience of health personnel or the lack of similar cases, which leads to a delay in diagnosis of an average of 4 years, which even extends to 10 in 20% of cases. Technology provides new tools to improve the diagnosis and treatment of these diseases. About 82% of rare diseases are due to variations in hereditary material.

Thanks to the advancement of genetics, professionals have been able to determine the causes of many of these diseases, as well as design specific tests for their diagnosis. An example of this is high-performance genetic platforms, which allow us to discover new genes and new mutations in genes as well as different phenotypes. The fact that technology can guarantee, or at least promote an early diagnosis center in whagoli  is essential to delay the appearance of symptoms or treating the disease from the first moment. Therefore, timely detection is one of the keys to reducing the morbidity rates of diagnosing rare conditions.

Technology applied to the diagnosis and treatment of rare diseases

Patients with rare diseases who are dissatisfied with the health care received account for almost half of the cases. Part of this dissatisfaction comes from the absence of constant monitoring by health personnel. Technology is not only the key to reducing screening times and communicating symptoms, but it can completely change the patient experience, as well as improve their quality of life.

Some of the advances in diagnostic techniques that we already know include the following:

1. 3D scans for diagnosis

A team composed of researchers from the University of Colorado, the University of Calgary and the University of California have developed innovative technology that uses three-dimensional facial images to speed up the diagnosis of rare diseases. This team created a library of 3D facial images of individuals of different ethnicities and ages. The library consists of 3,327 participants with 396 different genetic syndromes, 727 of their unaffected relatives and another 3,003 unaffected people.

After entering the images into a database, a machine learning algorithm was trained to identify people suffering from a rare disease.

2. mRNA technology

This technology was used in the development of the COVID-19 vaccine by Pfizer and Moderna. Messenger RNA is responsible for telling cells what protein they should produce to fight an infection. Although this Advances in diagnostic techniques has recently been used for COVID-19, it has been used for years and applies to a series of diseases such as Lyme disease.

This technology aims to put an end to this rare disease transmitted by ticks by administering antigens to stop their feeding. In this way, the vaccine would focus on antigens from tick saliva and prevent them from feeding on people.

3. CRISPR technology

Another therapy that has already been launched for the treatment of rare diseases is CRISPR technology. It consists of a gene editing tool that can be used in the treatment of diseases such as hereditary angioedema. This genetic disease consists of a pathology that produces outbreaks of swelling in the skin, mucous membranes and digestive system.

Thanks to this technology, a treatment known as NTLA-2002 was developed, which blocks the action of the gene responsible for the disease in the liver. CRISPR technology has managed to alleviate the symptoms of the first six candidates who carry the disease.

Symptom Recognition Platforms: Successful Diagnosis of Rare Diseases

Another use of technology for early detection is platforms that list the symptoms of the disease to help recognize them. An example of this is the Early Signs SMA website developed by Novartis Gene Therapies which seeks to help those likely to have SMA.

It is a genetic disease caused by the absence or mutation of the SMN1 gene. Patients diagnosed with this rare disease suffer from a loss of motor neurons that can affect vital functions. The possibility of having an early diagnosis thanks to these platforms favors the assignment of a treatment that can save lives and even stop the course of the disease in children.

Technologies that save lives

The most important thing about the technological advance described, whether to accelerate the times of diagnosis and development of new treatments for these diseases, is that these advances are changing the lives of many people and communities.

Decentralized care platforms with health professionals, virtual ‘concierges’ who can receive consultations from a patient or their family member and even guide a diagnosis so that a professional can then use it as help, as well as disease pattern recognition tools in health data that at first glance are difficult to relate are a few examples of what today we are capable of doing with digital and technological tools. Although there is still much to do, these tools are helping thousands of health professionals and their patients to have previously unthinkable care.

Conclusion

At Voltadiganostic, the best pathology lab in Wagholi, we are committed to generating tools so that people who live with a rare disease can enjoy a life with their greatest potential.