Studies of synaptic function in:
- Rare Neurometabolic and Neurogenetic conditions
- Other more common Neuropaediatric conditions
Our main objective is to describe synaptic communication in seemingly unrelated disease groups which share mechanisms of neurotransmission. These groups include:
A) Rare monogenic disorders of small molecules that alter neurotransmission: as examples IEM of biogenic amines (such as tyrosine hydroxylase deficiency and other defects involving dopamine and serotonin) and GABA (such as succinil semialdehide deficiency), and early epileptic encephalopathies due to genetic mutations that disrupt synaptic function ( such as MECP2, CDKL5, FOXG1, STXBP1 and other similar genes).
B) Common neuropaediatric conditions: common neuropsychiatric diseases such as ADHD and other common neurodevelopmental disorders in children.
Specific objectives are to conduct studies on disorders causing synaptic dysfunction in a multifaceted manner: 1) clinical phenotype; 2) genetic studies; 3) metabolic and proteomic studies; 4) cellular and animal models; 5) studies of neural circuits and networks (connectome). The results will be studied and integrated into clinical practice using bioinformatic tools.
SPECIFIC WORKING GROUPS
WG1 “RDA”: Rare dopamine disorders
WG2 “CDA”: Common dopamine disorders
WG3 “RGG”: Rare GABA and Glutamate disorders
WG4 “CGG”: Common GABA and Glutamate disorders
