The last day in February, on leap year the rarest day of the year, is a day to bring attention to the more than 6,000 rare diseases. Even though a rare disease is defined as one that affects less than 1 in 2,000 people, 300 million individuals globally are living with these diseases. On February 28, 2022, Rare Disease Day, we shine a spotlight to help with awareness, diagnosis, and treatment of rare diseases and celebrate those that we care for with these diagnoses.
With increased exome and genome sequencing, more and more rare diseases are being identified. Rare conditions identified on exome highlighted the need for collaboration between laboratories identifying the conditions, researchers making discoveries, patients, and their providers. One of the first rare diseases identified by exome sequencing, SNAP25, demonstrates the importance of genetic testing for rare conditions for patients and families.
SNAP25 is named after the gene which causes it, (synaptosomal-associated protein, 25-KD) and causes epilepsy and intellectual disability. The first patient identified with SNAP25 was diagnosed after a long diagnostic journey. The family was willing to share her story and collaborated on the first publication in a patient with SNAP25. This paper brought awareness of SNAP25 to other researchers and laboratories performing exome testing.
The patient’s mother, Elizabeth Dellureficio, has been instrumental in bringing awareness to SNAP25 within the research community. By collaborating with and connecting research groups, she has helped bring awareness of SNAP25, including a recent, groundbreaking paper published detailing 23 individuals with SNAP25 pathogenic alterations (Klöckner C, et al.). In addition, she started the SNAP25 support group, helping newly diagnosed patients and their families.
SNAP25 has gone from a rare diagnosis of one known patient to many patients diagnosed worldwide. Testing for SNAP25 is now available on many genetic testing panels and Quest Exome with CNV analysis to increase diagnosis and knowledge.
We invite you to participate in Rare Disease Day, and celebrate individuals with SNAP25 and other rare disorders and invite you to participate in many of the activities taking place worldwide (rarediseaseday.org).
For more information about SNAP 25 please contact firstname.lastname@example.org.