Dr. Schlecht is a director of SRF, a SYNGAP1 parent, and a hard-working saint, who has almost single-handedly pushed for medical codes for ICD-10 and ICD-11, in order for our patients to have a meaningful and standardized diagnosis.  Currently our population has a range of diagnoses with a range of effects on insurance, medications, and understanding of the disease.  

Dr. Schlecht also spoke to the projects coming up in 2021 for SRF: the funding of post-docs in the labs of Drs Heller and Coba, a collaboration with the Developmental Synaptopathies Consortium of the Rare Disease Clinical Research Network, the pursuit of an NCATS Conference grant, encouraging biomarker research, and recent efforts to facilitate a mouse model with a humanized Syngap1 gene (replacing the mouse gene). Each of these topics has a potential role to play in the drug development efforts for Syngapians.  

By the end of the four hours we were exhausted in a good way, the way that has you thinking hard about the science, and wishing hard for treatments to help our kids and our families.

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