When Harriet and Leonard “Len” Schleifer noticed their son David wasn’t meeting developmental milestones as an infant, they embarked on a decades-long quest for answers. After years of uncertainty, exhaustive testing at the Yale Neurogenetics Clinic finally revealed that David, now 39, has transketolase (TKT) deficiency—a rare metabolic disorder affecting energy production and immune regulation, with only about a dozen known cases worldwide.
Grateful for the care their family received from Yale clinicians, the Schleifers have made a gift to YSM to establish the Yale Transketolase Deficiency Program aimed at advancing research and care for this little-understood disease.
“Drs. Wang and Szekely have been my lifesavers at Yale,” Harriet Schleifer says. “It is because of them that Len and I gave a gift to launch the Yale Transketolase Deficiency Program.”
The new program will support groundbreaking studies, development of new therapies, and comprehensive clinical care initiatives centered on TKT deficiency.