May serves as an important time to recognize rare diseases, inherited conditions, and the growing role genomics plays in improving diagnosis, treatment, and patient outcomes. For millions of families worldwide, rare diseases often come with long diagnostic journeys, limited treatment options, and a need for greater awareness and advocacy.

At GENA, we believe genetics and AI-powered diagnostic support tools can help close critical gaps in care by empowering clinicians to identify potential genetic conditions earlier and more accurately. This month, we are spotlighting several important awareness initiatives, along with organizations leading the way in research, education, advocacy, and patient support.

Friedreich’s Ataxia Awareness Month

Friedreich’s Ataxia (FA) is a rare, inherited neurodegenerative disorder that affects the nervous system and heart. Symptoms often begin in childhood or adolescence and can include difficulty walking, impaired coordination, muscle weakness, scoliosis, and heart complications.

FA is caused by mutations in the FXN gene, which reduce the production of frataxin, a protein essential for mitochondrial function. Because symptoms can overlap with other neurological disorders, diagnosis may take years without access to genetic testing and informed clinical evaluation.

Awareness efforts during May help promote research funding, patient advocacy, and broader understanding of how genomics can accelerate earlier identification and intervention.

Organizations supporting Friedreich’s Ataxia awareness and research include the Friedreich’s Ataxia Research Alliance (FARA), the National Organization for Rare Disorders (NORD), and Ataxia UK.

Huntington’s Disease Awareness Month

Huntington’s Disease (HD) is a hereditary brain disorder caused by a mutation in the HTT gene. The condition progressively impacts movement, cognition, and mental health, with symptoms typically appearing between ages 30 and 50, although juvenile cases can occur earlier.

Genetic testing plays a critical role in confirming diagnoses and supporting family planning decisions for those with a known family history of HD. As genomic medicine advances, researchers continue exploring targeted therapies and potential gene-based treatments aimed at slowing disease progression.

Huntington’s Disease Awareness Month highlights the importance of education, support resources, and continued innovation in neurogenetics research.

Organizations making an impact in the Huntington’s Disease community include the Huntington’s Disease Society of America (HDSA), the Huntington Society of Canada, and the European Huntington Association.

Ehlers-Danlos Syndrome Awareness Month

Ehlers-Danlos Syndrome (EDS) refers to a group of inherited connective tissue disorders that can affect joints, skin, blood vessels, and internal organs. Patients with EDS may experience hypermobility, chronic pain, fatigue, easy bruising, and frequent joint dislocations.

Because symptoms vary widely and can mimic other conditions, many patients experience delayed or missed diagnoses. Increased awareness around EDS helps clinicians recognize potential warning signs earlier and understand when genetic evaluation may be appropriate.

Advancements in genomics and clinical decision support tools are helping healthcare providers better identify complex symptom patterns that may point toward connective tissue disorders like EDS.

Helpful organizations and advocacy groups include The Ehlers-Danlos Society, EDS Awareness, and NORD.

Cystic Fibrosis Awareness Month

Cystic Fibrosis (CF) is a progressive inherited disease caused by mutations in the CFTR gene. The condition primarily affects the lungs and digestive system, leading to thick mucus buildup, chronic respiratory infections, and digestive complications.

Over the past several decades, breakthroughs in genetic research and targeted therapies have dramatically improved life expectancy and quality of life for many individuals living with CF. Early detection through newborn screening and genetic testing remains essential for timely treatment and care planning.

Cystic Fibrosis Awareness Month recognizes the resilience of patients and families while emphasizing the continued importance of research, precision medicine, and expanded access to genomic testing.

Organizations advancing Cystic Fibrosis research and patient care include the Cystic Fibrosis Foundation, Cystic Fibrosis Canada, and the European Cystic Fibrosis Society.

Inherited Retinal Disease Genetic Testing Awareness Month

Inherited Retinal Diseases (IRDs) are a group of rare genetic eye disorders that can lead to progressive vision loss or blindness. Conditions such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt disease are all examples of IRDs linked to genetic mutations.

Genetic testing has become increasingly important for patients with suspected IRDs because it can help confirm diagnoses, identify eligibility for emerging gene therapies, and provide valuable information for family counseling.

As precision medicine continues advancing, awareness around genetic testing for retinal diseases is critical to helping patients access earlier interventions and specialized care.

Organizations supporting IRD patients and genetic testing awareness include the Foundation Fighting Blindness, Retina International, and Prevent Blindness.

The Growing Role of Genomics in Rare Disease Diagnosis

Collectively, rare diseases affect hundreds of millions of people worldwide, yet many patients still face significant delays in receiving accurate diagnoses. Studies show that patients with rare diseases often spend years navigating multiple providers before identifying the underlying cause of their symptoms.

This is where genomics, AI, and clinical decision support technologies can make a meaningful difference.

At GENA, our mission is to help streamline the path to diagnosis by supporting clinicians with tools designed to identify potential genetic indicators earlier in the care journey. By combining genomic insights with intelligent analysis, healthcare providers can make more informed testing decisions and improve patient outcomes.

Supporting Awareness Beyond May

Awareness months provide an opportunity to educate, advocate, and inspire action, but support for rare disease communities must continue year-round. Continued investment in research, expanded access to genetic testing, and improved clinical education remain essential to helping patients and families receive the answers and care they deserve.

As genomics continues transforming healthcare, collaboration between clinicians, researchers, technology innovators, and patient advocacy organizations will remain critical to advancing earlier diagnosis and personalized care for rare and inherited diseases.