Report from STAR Researchers Dr. Steven U. Walkley, DVM, PhD Dr. Melissa Wasserstein, MD Just over 2 years ago on November 9, 2017, the Foglio family came to the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) at the Albert Einstein College of Medicine in New York and met with a team of scientists led by Dr. Steven Walkley and their son’s Montefiore physician, Dr. Melissa Wasserstein. This was a new program at Einstein-Montefiore, Operation IDD Gene Team, whose goal was to help parents more fully understand the nature of the genetic diagnosis underlying their child’s intellectual disability and to let them know they were not alone in their quest for answers. Here the Foglio’s heard a lay tutorial addressing the science Since that fateful decision, a S.T.A.R. was born, and was buoyed behind their son’s diagnosis. They learned that Salla disease is by numerous collaborations with other affected families in the an ultrarare type of lysosomal storage disorder – genetic U.S. and Europe, by successful fundraisers and by a first “think diseases which themselves are uncommon – and one for which tank” meeting held in Tarrytown, New York in the fall of 2018. little research was underway in the U.S. or Europe. There was Organized by Drs. Walkley and Wasserstein, this intense one- even a lack of knowledge as to whether any other families in the day meeting represented a “first” for Salla disease, where a US might be affected. They also learned that while there was no dozen top notch scientists from the U.S. and Europe came treatment known for Salla disease, a closely related lysosomal together with an equal number of families affected by this disease (cystinosis) did have a treatment, developed at the condition. As a result, a Sialic Acid Storage Disease (SASD) Report from STAR Researchers National Institutes of Health (NIH) some years earlier. More Research Collaborative was established and projects initiated in research might lead to a therapy for Salla as well. As a result, labs at Einstein and the NIH. within 6 weeks of the tutorial the Foglio’s announced that they A summary of current work and their advances is provided on would create a foundation dedicated to Salla disease families the following page. and to finding a treatment for this disease. 6