Illuminating Rare Disease

Maxwell began exhibiting motor dysfunction and missing developmental milestones soon after birth. After eighteen grueling months and several misdiagnoses, genetic testing finally revealed Maxwell’s diagnosis: a rare, incurable neurological disorder called SLC6A1. Disruption of the SLC6A1 gene can cause seizures, speech and movement disorders, intellectual disability, and progressive epilepsy. And as difficult as Maxwell’s ordeal has been, his mother Amber would be the first to tell you that he is one of the lucky ones.

February 28 is Rare Disease Day, and today we raise awareness to improve access and treatment for the 300 million people worldwide who have a rare genetic disease. Maxwell is lucky because he received a diagnosis, and cutting-edge research on SLC6A1 gives hope for those facing the disease.?

There are more than 6,000 individual rare genetic conditions like SLC6A1, but rare disease is collectively common. 50% of patients affected by rare genetic diseases are children. In higher income countries, patients can remain undiagnosed with a rare genetic disease for up to seven years while in low to middle income countries, families may never know the cause of their child’s suffering, let alone find community through other families facing the same challenges. It is estimated that 30% of children diagnosed with a rare disease will not live to see their fifth birthday. These patients, parents and families deserve better pathways to diagnosis and treatment. ?

The diagnostic odyssey often includes invasive testing and misdiagnosis. Personalized care through whole genome sequencing can help reduce unnecessary procedures, provide better outcomes, and shorten hospital stays. Through Project Baby Bear, Rady Children’s Institute provided rapid whole genome sequencing for 178 infants which led to better outcomes for children and their families. Patients received a diagnosis in three days vs. the average range of five to seven years. 31% had their care personalized to avoid reconstructive surgeries and invasive biopsies.

Amber has since founded a patient advocacy group, SLC6A1 Connect, to build awareness and raise funds for scientific research, with the goal of finding a cure. This Rare Disease Day, Illumina is proud to support?SLC6A1?Connect in the US,?ASrid in Japan,?NoRo in Romania?and?Rare Disease South Africa. Illumina recently committed $120m in product for the iHope? Genetic Health program with Genetic Alliance to increase access to whole genome sequencing for individuals impacted by genetic disease in underserved communities around the world. At least one third of our support will be dedicated to patients in Africa while Genetic Alliance intends to focus at least half of its overall efforts on supporting individuals outside the US.

Collectively, we can work to increase access to whole genome sequencing and improve the diagnostic odyssey for patients around the world. ?

#RareDiseaseDay2022 #IlluminatingRareDisease