Rare Genetic Diseases

What is a rare genetic disease?

A rare genetic disease is defined, in the US, as any disease that affects less than 200,000 people. A rare disease is also often known as an orphan disease, a title given to those diseases that have been neglected in terms of research and funding. 

Current estimates put the number of potential rare diseases at approximately 7000. However, this number changes as research into rare and orphan diseases widens our understanding of the causes and symptoms of each genetic syndrome. Sometimes symptoms that were grouped to define one syndrome are often found, after further research, to be diseases in their own right. In other cases, several syndromes are combined into one disease definition. The rare disease field is developing all of the time. 

Genetic Causes and Inheritance Patterns

The majority of rare diseases are genetic. This means they are caused by a mutation or deletion in our genes that triggers the symptoms of a specific syndrome. In some cases, they are inherited, or passed down from parents, while in other cases, they are caused by a de novo or new genetic mutation that is the first in a family. 

Other examples of rare diseases include rare cancers and autoimmune diseases that are not inherited.

Rare diseases may present with a wide variety of features and symptoms that can affect multiple parts of the body and cause serious health and medical conditions and illnesses in their own right as well. 

Progress and Challenges in Rare Disease Research

There have been many developments in the rare disease research field in recent years. There have also been more concerted efforts by governments to invest more funds and resources into research. However, it is a field that still has a lot of development to do to ensure rare disease patients receive a timely and accurate diagnosis and the support and care they need to live with their disease. 

Some of the most well-known rare diseases:

(*Based on data from FDNA.com. Numbers represent a showing of a syndrome as a suggested syndrome in our AI tool)

• Noonan syndrome – a rare genetic disorder that presents with unusual facial characteristics and short stature.
• Angelman syndrome – a rare genetic condition occurring in 1 in every 15,000 live births, and it affects around 500,000 people worldwide
• Coffin-Siris syndrome –  a rare disease characterized by coarse facial features and the 5th finger or toe’s underdevelopment.
• Kabuki syndrome – a rare genetic disorder occurring in just 1 in 32,000 births. 
• 22q11.2 Deletion syndrome – a rare disease that presents with a wide range of symptoms that can affect almost any part of the body. 

Some of the rarest of rare diseases:

(*Based on data from FDNA.com. Numbers represent a showing of a syndrome as a suggested syndrome in our AI tool)

• Cerebellar Ataxia, Non-Progressive, with Mental Retardation – a rare genetic condition that affects the cerebellum (the part of the brain responsible for the control of fine voluntary movements).
• Chromosome 1q21.1 Microdeletion – a rare genetic syndrome that occurs due to microdeletions on a specific chromosome. It affects the development of affected individuals, especially their motor skills development.
• Barber-say syndrome – a rare congenital condition with fewer than 20 patients diagnosed worldwide.

Rare disease misdiagnosis and delayed diagnosis

For many patients with a rare disease, misdiagnosis, and delayed diagnosis are obstacles they struggle to overcome throughout the entirety of their diagnostic journey. It is estimated that 1 in 17 people will be affected by a rare disease at some point in their lives, and yet there is still a lot of work to be done in terms of broadening our understanding of the causes and symptoms of rare diseases and how they can be more accurately and quickly diagnosed. Misdiagnosis in rare genetic syndromes is still much too common a phenomenon. 

Recent advancements in AI and Health technology have begun to make a rare disease diagnosis more accessible to more patients. FDNA, ensures patients receive accurate genetic analysis while connecting them to an extensive network of genetic counselors, geneticists, and genetic specialists to speed up diagnosis times and ensure rare disease patients receive the care, support, and treatment they need. Genetic counseling is a key part of the diagnosis of genetic conditions. It provides immense support and information to families and individuals as they navigate what may be a life-altering diagnosis.

We recommend using our Child Development Checker app to assess developmental delays and potential genetic concerns from the comfort of your home. This user-friendly tool analyzes your child’s development and flags early signs of concern. Additionally, the “Connect to Expert” feature provides personalized support from genetic professionals. These resources empower you to take proactive steps in your child’s unique developmental journey.