S. John Jacob
Honorary Senior Clinical Research Fellow
- Consultant Neurologist
I am interested in the biological mechanisms of neurodevelopmental disorders, in particular epilepsy and autism. My interest in these disorders stems from an earlier focus on the how the embryonic nervous system develops. The initially homogeneous cell population that constitutes the developing central nervous system gives rise to a diverse array of neurones and non-neuronal cell types. Cells are produced in a stereotyped manner at the correct times and in the appropriate locations. When this complex process is defective, either as a result of genetic mutations or a perturbed cellular environment, diseases such as epilepsy and autism can result. There is a recognised association between these diseases which have many different causes, and this has hampered the development of effective therapies. My research is currently focused on understanding the shared biological pathways of both disorders as only then will it be possible to design more effective therapies to treat these disabling and lifelong conditions.
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome.
Blassberg R. et al, (2016), Hum Mol Genet, 25, 693 - 705
Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.
Jacob J., (2016), Epilepsia, 57, 182 - 193
THE LINK BETWEEN CHOLESTEROL AND HEDGEHOG SIGNALLING IN EPILEPSY AND AUTISM SPECTRUM DISORDER: A CELLULAR MODEL OF SMITH-LEMLI-OPITZ SYNDROME
Jacob J. and Blassberg R., (2015), EPILEPSIA, 56, 120 - 120
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome.
Jacob J. et al, (2014), Dis Model Mech, 7, 107 - 117
Retinoid acid specifies neuronal identity through graded expression of Ascl1.
Jacob J. et al, (2013), Curr Biol, 23, 412 - 418