What is a rare genetic disease? How are they diagnosed? What are the recent developments in the field?
Rare Disease Guide
We take a look at some of the main rare diseases, their causes, symptoms and how they are diagnosed
Understanding rare diseaseThere are currently around 7,000 rare diseases identified globally. It is thought more than 400 million people are living worldwide with a rare disease. Many of these rare diseases are also referred to as orphan diseases, meaning there is very little understanding of their causes and symptoms. For this reason, a rare disease can be tough to identify and diagnose, leaving patients without a diagnosis and crucial support for years at a time. Greater awareness of a rare disease is the key to improving those living with genetic syndromes.
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Rare disease causes and symptomsA rare disease can present with various features and symptoms, some of which might be unique to a specific syndrome, while others might be common across several syndromes. These symptoms can present as unique facial features, developmental delays, and a whole range of possible health and medical conditions. Symptoms of a rare disease may range from mild to severe. The presence of specific symptoms will often lead to a call for genetic analysis to eventually reach a genetic diagnosis.
The majority of rare diseases are caused by mutations in specific genes. They may also be due to deletions in a gene or the presence of an extra chromosome. A rare disease may be inherited in several different ways, the main ones being: autosomal dominant, autosomal recessive, X-linked, and spontaneous or de-novo. An individual with a rare disease may be the first case of this syndrome in their family.
While research into rare diseases is growing, both into its causes and symptoms, there is still much we don't know about many of the specific syndromes. This makes it difficult to develop treatments and support rare disease patients as they adjust to the reality of a life to be spent with a rare disease.
Rare disease diagnosisTraditionally, diagnosing a rare disease began with an emphasis on in-person analysis, initiated and conducted by a clinical professional. Due to the lack of information about so many rare diseases, this has often led to a high misdiagnosis and delayed diagnostic journey. However, recent advancements in AI technology have made it possible to make genetic analysis available virtually. This makes it accessible for anyone who has a connected device with a camera. This has the potential to radically change the world of rare diseases, as it connects patients directly to accurate genetic analysis, genetic counselors, and eventually genetic testing options.
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