Translational Research in Hereditary Spastic Paraplegia
Important insights into Hereditary Spastic Paraplegia and key findings that may lead to novel therapies.
IDDRC Blog: Rare Diseases
New Gene Discovery for Rare Disease
New Gene Discovery for syndromic intellectual disability has been described. Researchers at the RSZ-Translational Neuroscience Center @BostonChildrens are leading efforts to better understand this disorder, recently named “Chopra-Amiel-Gordon syndrome.”
CDKL5 Deficiency Disorder: Frontiers of Disease Modifying Therapy and Promising Visual Outcome Measures
CDKL5 Deficiency Disorder (CDD) has an estimated prevalence of one in 40,000 to 60,000 live births. In CDD, communication is particularly challenging because of poor hand function and poor visual function. Improvement in these abilities would open opportunities for picture-based augmentative communication, via touch or eye gaze, giving families an improved pathway for interacting with their child.
The IDDRC-CTSA Brain Gene Registry
Boston Children’s Hospital together with Washington University and the University of North Carolina, are launching the new IDDRC-CTSA Brain Gene Registry. The registry will harness the power of genomic data acquired during clinical care to better understand the relationship between rare gene variants and neurodevelopment, an essential step as we move towards understanding mechanisms and developing therapies for intellectual disability and autism.
Congratulations to Dr. Michela Fagiolini on receiving the LouLou Foundation’s CDKL5 Pilot Grant Programme Award
Dr. Fagiolini receives a LouLou Foundation CDKL5 Pilot Grant award for her research project: “ASO therapy in CDKL5 deficiency disorder”