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Rare disease- its diagnosis

We can comprehend the concept of this unusual sort of disease from its name and there are numerous uncommon diseases that affect fewer than 2000 persons. While there are many people suffering from various forms of rare disease, the main issue that doctors and specialists face is diagnosis.

According to the study, it takes around 5-7 years to receive a diagnosis. The delay in diagnosis is the reason for living with the illness and condition for the remainder of one’s life without access to the healthcare system. Furthermore, the percentage of incorrect diagnoses is increasing.


The rareness of the disease is the reason for its late diagnosis. Because they cannot find somebody to clinically evaluate the symptoms and illness, physicists and scientists are unable to develop true diagnosis methods and treatment programmes.

For these types of illnesses, hospitals, clinics, and laboratories have limited resources and equipment. As the number of patients with rare diseases grows, researchers have launched endless initiatives, including multiple case studies, to better understand the disease and develop a diagnostic answer as quickly as feasible.

Genome sequencing for Rare disease

The first thing researchers discovered was that rare diseases could be caused by the genome or genetics. It is estimated that 80% of rare diseases have a genetic basis. While the aetiology of the disease may appear to be normal and straightforward to uncover, genetic testing was previously expensive and out of reach for many people. Next-generation sequencing technology has a negative impact on cost, accuracy, and utility. Many rare diseases are thought to be easily recognised with the help of technological innovation.

While genome sequencing is used to determine the kind of disease, transcriptomics is used to interpret and prioritise non-coding variants.

This type of technology and equipment has proven to be quite beneficial in a variety of settings where people have minimal awareness about rare diseases and their symptoms.

If you want to consult with a United states expert regarding any type of rare disease, then sign up now on MediPocket world and be a part of premium healthcare service from the US.


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