Rare Diseases Day – 28/02

Rare Diseases

Exploring the Power of Rare – Welcome to the World of Rare Diseases!

Although we humans may share 99.9% similarity, the 0.1 % variance holds an incredible spectrum of information about our unique traits – from genetics to disease risks! It’s remarkable how much impact this tiny difference can make in the world.

Those affected by a rare disease know best the meaning of rare as just 5% of individuals worldwide are diagnosed with such health issues. No friends or family have ever heard of their condition before, there may be few resources and accessible treatment options, and little knowledge may be available on its causes. From patients and caregivers to physicians, researchers, advocacy groups, and beyond.

Welcome into the “Rare World” where similarities far surpass differences.

What are rare diseases and some examples?

Individually rare, collectively common – Rare Diseases is an umbrella term for a wide range of medical conditions affecting fewer than 200,000 people in the US. The definition of the term “Rare Disease” can vary from country to country. According to the National Institutes of Health (NIH), there are around 7,000 rare diseases identified so far, and more are being discovered each year.

You can check a list of rare diseases on the National Organization for Rare Disorders (NORD) database:  https://rarediseases.org/rare-diseases/


These rare conditions can affect people of all ages, genders, and backgrounds. Rare diseases can be genetic, autoimmune, and metabolic, among other subtypes.

Genetic diseases are caused by a change in the DNA sequence that can be inherited from parents or first manifest in the affected individuals. Rare diseases such as sickle cell anemia, Duchenne muscular dystrophy, and cystic fibrosis are examples of genetic disorders.

Autoimmune diseases are caused by an immune system that has become deregulated and attacks healthy body tissue, such as in lupus, multiple sclerosis, and type 1 diabetes.

Metabolic diseases are caused by abnormal chemical reactions in the body that disrupt metabolism, such as in valinemia, and Type 1 Gaucher Disease.

Telomere Biology Disorders (TBDs) are also examples of rare and complex genetic disorders. This group of conditions that affect many organ systems in the body are mediated by defective telomere maintenance, which can lead to multiple severe medical problems. Individuals affected by TBDs have a gene mutation associated with short telomere length. Telomeres are structures located at the end of chromosomes to protect DNA from damage.

If you would like to know more about TBDs, please watch our video: Telomere Biology Disorders explained

TBD-mediated bone marrow failure (Dyskeratosis Congenita) and TBD-mediated Pulmonary Fibrosis are the two most common TBD manifestations.

Dyskeratosis Congenita (DC)

What is Dyskeratosis Congenita?

Dyskeratosis congenita (DC) is a rare progressive genetic disorder where the body’s cells do not renew as they should. DC is also known as an inherited bone marrow failure syndrome characterized clinically by the triad of abnormal nails, reticular skin pigmentation, and oral leukoplakia. DC is associated with higher risks of developing aplastic anemia, myelodysplastic syndrome, leukemia, and some types of cancer compared to that of the general population.

What are the risks associated with Dyskeratosis Congenita?

People with DC are at risk for developing complications from the disease such as bone marrow failure, lung disease, and liver disease. Dyskeratosis Congenita has a genetic cause present at birth, but symptoms may not appear until a child is older. In less severely affected individuals symptoms may not appear until their adult years.

Dyskeratosis Congenita is a progressive condition, consequently, preventive precautions and treatments may help reduce the chances of some complications and help address some of the symptoms and prolong life. Treatment options may include red blood cell transfusions, medications, or bone marrow transplants (stem cell transplants) in some cases.

The wide range of sometimes subtle and varied symptoms can make the diagnosis of DC difficult based on the clinical presentation alone. Therefore, telomere length analysis plays an important role in the identification of individuals affected as well as those relatives who may be at risk but do not manifest disease features. A conclusive diagnosis is essential to enabling patient and physician awareness and appropriately tailoring clinical monitoring and treatments.

Telomeres & Dyskeratosis Congenita

The introduction of telomere-length diagnostic testing and genetic testing has revealed a more comprehensive clinical spectrum of TBD diseases that are associated with classical DC in a group of disorders linked by defective telomere biology.

The Flow FISH procedure is a valuable screening test for inherited deficiencies of telomere maintenance. Several peer-reviewed scientific publications show that telomere length analysis with Flow FISH can identify individuals with various forms of inherited telomerase deficiency and who may be carriers of mutations in telomerase genes or genes encoding telomere binding proteins.

The telomere test procedures are simple for patients. All that is required is the collection and shipping of a blood sample. However, there are important considerations when conducting this type of testing, because results may indicate a heritable condition that could have implications not just for the individuals being tested, but also for their family members.

Genetic Counseling is a significant knowledge resource for individuals and their families to discuss and prepare for testing as well as consider the possible implications of results. For more information, read this guest blog from a genetic counselor discussing some of the implications of telomere testing.

To order a telomere test talk to your physician and click here: Order a Test

Clinical guidelines for the diagnosis and management of DC and TBDs have been developed and are freely available: Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines. These guidelines, authored by a group of TBD clinical experts and researchers, and edited by Sharon A. Savage, MD; Elizabeth F. Cook, MD; Suneet Agarwal, MD, Ph.D.; Katie Barrett Stevens; Hannah Raj, BS; and Heidi Kay Carson were published by Team Telomere.

Pulmonary Fibrosis (PF)

What is Pulmonary Fibrosis?

Pulmonary Fibrosis is a rare progressive lung disease where scar tissue develops in the lungs, making it difficult for affected individuals to breathe normally and take in enough oxygen. In most cases, symptoms include shortness of breath, dry cough, and fatigue. Recent discoveries have shown they are likely caused by an interaction of both genetic and environmental factors. Furthermore, Idiopathic pulmonary fibrosis (IPF) refers to a subset of cases with particular lung clinical findings that do not have a known cause. There are also cases where PF runs in families, known as Familial Pulmonary Fibrosis (FPF).

Telomeres & Pulmonary Fibrosis

Studies have found that short leukocyte telomeres length is an independent predictor of disease progression and guides treatment for pulmonary fibrosis. Pulmonary fibrosis has been linked to genetic or acquired defects causing abnormal telomere maintenance for a subset of patients.

Flow FISH telomere measurements have been shown to be a valuable test to guide genetic investigations and treatment in patients diagnosed with pulmonary fibrosis.

Reasons for testing telomere length include:

  • Simple procedure for the patients. Just like a blood test, it only requires a collection and shipping of a blood sample.
  • Diagnostic tool for individuals with familial and idiopathic PF.
  • Telomere length is associated with transplant-free survival and can aid in disease course prediction and treatment planning.
  • Risk assessment for lung transplantation as well as post-transplant immunosuppression guidance.
  • Telomere length analysis can provide critical information in high-risk patients who may be unable to undergo lung biopsies.
  • The cost of a Flow FISH telomere test is less than genetic testing and has a faster turnaround time.

What type of research is currently ongoing to help those affected by Rare Diseases?

Rare Diseases

Despite their high overall numbers, rare disease patients can often suffer from lengthy diagnostic journeys and a lack of local treatment options available due to the rarity of each disease. The relatively small number of individuals affected with one specific disease makes researching new diagnosis methods, and trials for new treatments very challenging. As such, individuals suffering from any one particular rare illness can benefit from connecting with disease-specific and rare disease networks which can help them connect with clinical experts, and share information about the latest research work and clinical trials that may be recruiting study participants.

Organizations like the Rare Diseases Clinical Research Network (RDCRN) are constantly working to develop better treatments and improved care for individuals with rare diseases. This organization is led by the National Institutes of Health (NIH) Rare Diseases Clinical Research Network Coordinating Center, which supports Rare Disease clinical research centers across the U.S., as well as international Rare Disease networks.

The Orphan Drug Act (ODA) signed in the US and along with many other similar legislations worldwide have helped to increase research efforts in rare diseases. According to the study A journey of hope: lessons learned from studies on rare diseases and orphan drugs. This act and legislations provide incentives for companies to develop and market drugs that target rare conditions that previously had limited or no therapeutic options available. As a result of these initiatives increased focus on Rare Disease research, improved treatments, and better disease understanding are now available for some Rare Diseases.

Today, there are more than 700 medicines representing less than 10% of rare diseases that have approved treatment options. Ultimately, Rare Diseases remain a challenge for affected individuals and the medical community alike. To meet this challenge, a growing number of dedicated Rare Disease organizations such as Rare Disease Day, Rare Diseases Europe, and the National Organization for Rare Disorders (NORD) are committed to advocating on behalf of those living with rare diseases. Their efforts drive global awareness while they work toward increased research funding which ultimately offers more hope in terms of treatments that may better improve the quality of life of affected individuals, families, and healthcare providers.

Telomere role in Rare Disease research

From one blood sample (or other sample sources), telomere research is being undertaken to understand rare diseases better, develop novel treatments, and diagnose or assess the prognosis of rare diseases. By analyzing telomeres length through a variety of techniques, such as with flow FISH, researchers can assess the telomere deficit or accelerated shortening that may occur in Rare Diseases. This is typically targeted to diseases that are hypothesized to be connected to defective telomere biology and determine if it is linked to any specific mutation or genomic abnormality or to diseases where relatively shorter telomere lengths have been associated with poorer outcomes.

By exploring telomere length in conjunction with other biological markers or clinical interventions, researchers can gain a better understanding of how these diseases develop and test progress in order to develop more effective treatments and therapies to improve care.

How does the medical community approach treating rare diseases?

Despite the challenges of diagnosing and treating rare diseases, the medical community is actively pursuing better ways to manage such conditions. Rare diseases often require a specialized multi-disciplinary healthcare team approach due to their complexity. With the right tools and resources, a patient or their family can liaise with their ‘medical home’ care physician to develop an effective plan.

Multidisciplinary coordinated approaches

Rare disease treatment may include a combination of medical management, lifestyle modification, and therapy. Rare disease research centers are dedicated to further developing personalized diagnoses and care for patients with rare conditions and may provide access to the latest treatment trials and novel technologies available. some of the rare disease centers are RareGenomics Institute, Rare Disease Care Center (RDC), Rare Diseases Clinical Research Network (RDCRN), and Care4Rare Canada in Canada.

Diagnosis and Treatments Guidelines

Diagnosing rare diseases can be difficult due to their rarity and the fact their cause may remain unknown. Medical professionals use a combination of clinical observations, medical laboratory tests, medical family history, and genetic testing to best diagnose a rare disease.

Guidelines for some rare diseases are also available to medical practitioners with the latest clinical information on diagnosing and treating these conditions. Clinical trials are another important way to advance rare disease research. Clinical trials allow researchers to evaluate the effectiveness of new treatments or therapies before they become available to patients.

What can be done to support those living with a rare disease?


By understanding the power of difference that lies within our individualities, we can work together to improve outcomes for rare diseases. These diseases may be uncommon, but their impact on individuals and families is not. Through education, advocacy, and resources, we can all join forces to ensure that no one living with a rare disease goes unnoticed or unsupported.

Community Driven Support

The Rare Community is united by uncommon but powerful circumstances. Allying efforts for Rare Diseases and supporting patient, physician, and researcher-focused initiatives is making it easier for individuals suffering from rare diseases to connect and share resources. Team Telomere and Pulmonary Fibrosis Foundation (PFF) are some of the organizations dedicated to Rare Disease research and patient support. The Rare Community is growing stronger, spreading awareness and collaborating on initiatives to improve the quality of care and foster a stronger support system.


Rare Disease Day is an annual event celebrated worldwide each February 28th. It raises awareness and highlights the challenges met by rare disease patients and caregivers. In addition to increasing public awareness of rare diseases, the occasion serves as a platform for highlighting medical research efforts to find treatments that can improve the quality of life of patients.

Repeat Diagnostics (RDx) is a clinical laboratory pioneering the Flow FISH telomere testing. RDx is a keen supporter of rare disease causes, not only by providing Telomere Length Testing for patients’ diagnosis and research purposes but also by being an active advocate for Telomere Biology Disorders awareness and research. Furthermore, RDx provides long-term support by collaborating with outreach groups to facilitate the creation and distribution of clinical guidelines tailored specifically toward meeting TBD patient needs.

Rallying for the Cause – How Working Together to Tackle Rare Diseases Can Make a Big Difference

Even if the percentages for rare diseases seem small, the implications for those affected lives are countless. Embracing knowledge about rare diseases can mean a brighter future for those in need. In short, knowledge and support is power when it comes to tackling challenging cases like those presented by rare diseases. Improved knowledge and awareness become essential to the support needed to face such illnesses – a capability that belongs to us all! Together we can rise above the diagnosis and make a significant impact on the development of treatments that can improve lives. When we come together, no challenge is too great for us to overcome!

Pledge your Power to make Rare Disease Day, Every Day!


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Team Telomere. (2023, February 15). Diagnosis & Management Guidelines. Retrieved from Team Telomere: https://teamtelomere.org/diagnosis-management-guidelines/

NIH National Center For advancing translational sciences. (2023, February 15). About Gard. Retrieved from NIH National Center For advancing translational sciences: https://rarediseases.info.nih.gov/about

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