Rare Disease Day is observed on the last day of February each year, and this year, it falls on February 28th. It is a day dedicated to raising awareness about the 6,000+ rare diseases that impact more than 300 million people globally. Despite being individually rare, these conditions collectively represent a substantial health burden, and many are chronic, life-altering, or even fatal. Rare Disease Day serves to highlight the urgent need for better understanding, improved diagnostics, and innovative treatments for these under-researched diseases.
For individuals with rare diseases, timely and accurate diagnosis is often a challenge. Patients and families often face an extended diagnostic odyssey, navigating a fragmented healthcare system without answers, and experiencing unnecessary delays or misdiagnoses.
At Genomenon, Rare Disease Day is a reminder of our mission to accelerate the diagnosis and treatment of rare diseases through cutting-edge genomic research. The creation of our Mastermind Genomic Search Engine was born out of the need to break the cycle of undiagnosed and misdiagnosed patients by providing clinicians and researchers with comprehensive, actionable genetic data that can drive better clinical decisions and ultimately improve patient outcomes.
Mark Kiel, the founder of Genomenon, is a rare disease patient who experienced the challenges of delayed diagnoses and limited access to genomic information. Driven by his personal experience, he developed Mastermind, a tool that provides clinicians, geneticists, and researchers with quick access to actionable genomic information. By offering precise genetic data, Mastermind empowers healthcare professionals to make faster and more accurate diagnoses, ultimately enhancing treatment decisions and improving patient outcomes.
The Role of Genetics in Rare Disease Diagnosis and Research
Genetics plays a vital role in the diagnosis and treatment of rare diseases. As a result, genetic testing has become one of the most powerful diagnostic tools available. Pinpointing disease-causing variants can transform patient care, shifting focus from symptom management to precision medicine approaches tailored to the individual. For example, identifying a genetic variant linked to a rare neurological condition can guide clinicians toward existing targeted treatments or help researchers develop new therapies. Moreover, advances in whole genome sequencing (WGS) and whole exome sequencing (WES) have made it possible to detect rare disease variants in previously unstudied genes, pushing the frontiers of genetic discovery. But sequencing alone is not enough — without a comprehensive understanding of the clinical relevance of genetic variants, diagnosis can remain elusive. This is where tools like Mastermind play a pivotal role. By aggregating and curating genetic data from scientific publications, Mastermind ensures that clinicians and researchers have access to the most up-to-date variant knowledge, allowing for more confident diagnoses and the potential for life-changing treatment.
Our Mission to Curate the Entire Clinical Human Genome: Advancing Rare Disease Diagnosis and Treatment
At the heart of Genomenon’s mission is a bold but essential goal: to curate the entire clinical human genome. The human genome contains roughly 20,000 protein-coding genes, but only a fraction of these genes are well understood. Many of the genes implicated in rare diseases are either newly discovered or poorly characterized. This lack of knowledge is a major hurdle in the diagnosis of rare disease patients. For example, while genes like BRCA1 and BRCA2 are well-known for their roles in hereditary cancer, other genes, such as BAG3 or LMNA, have only recently been connected to certain forms of muscular dystrophy. If a patient’s genetic test reveals a variant in a lesser-known gene, it can be difficult for clinicians to determine if that variant is pathogenic. To address this gap, Genomenon is curating variant data from thousands of scientific papers, ensuring that all variants — not just those in well-known genes — are annotated with their clinical significance. This comprehensive approach means that even "new" or lesser-known genes have curated content available for geneticists, allowing for a more complete view of the patient's genetic profile. This endeavor is essential to solving the variant interpretation problem, especially for rare disease patients whose conditions are caused by variants in genes that have historically received little research attention. By curating the full genome, Genomenon aims to eliminate blind spots in genomic analysis, ensuring no patient is left without answers.
Genomenon’s Commitment to Rare Disease Research: The February Free Variant Data Offer
Rare disease research requires collaboration, access, and shared knowledge, and Genomenon is committed to supporting researchers and clinicians on this journey. To support the global research community, this February, in honor of Rare Disease Month, we are providing complimentary access to curated variant insights on 11 genes associated with rare diseases. These genes—including NF1, COL1A1, HBB, USH2A, ABCD1, ADAMTS13, ATP7B, PTEN, SCN5A, MYBPC3, and TNNC1—are tied to conditions affecting patients worldwide. These include Neurofibromatosis Type 1, Osteogenesis Imperfecta, Sickle Cell Disease, Usher Syndrome Type II, X-Linked Adrenoleukodystrophy, Thrombotic Thrombocytopenic Purpura, Wilson Disease, PTEN Hamartoma Tumor Syndrome, Brugada Syndrome, Dilated Cardiomyopathy, and Hypertrophic Cardiomyopathy.
With access to curated content from Mastermind, researchers, clinicians, and genetic counselors can explore critical variant information, discover genotype-phenotype relationships, and uncover links to scientific literature. By doing so, we aim to speed up variant interpretation and drive research that can lead to new treatments. This initiative builds on our broader mission to support rare disease awareness and research, recognizing that access to high-quality data should not be a barrier to progress.
By offering free variant data on these 11 genes, Genomenon is fostering a community-driven approach to variant discovery, enabling geneticists and clinicians worldwide to gain insights into rare diseases that could otherwise remain hidden.
We invite researchers, clinicians, and rare disease advocates to create free Mastermind account and take advantage of this offer and join us in advancing rare disease diagnosis and treatment.
