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A cell change that drives leukaemia

It is now known that the HOX11 gene is permanently activated in the leukaemia cells and it drives the disease.

ORIGINS of Neurodevelopmental Risk and Resilience

This project aims to better understand the early genetic and environmental factors that the developing brain during a child’s first five years of life.

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder

CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental impairments. A CDD clinical severity assessment (CCSA) was previously developed with clinician and parent-report items to capture information on a range of domains.

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder

CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.

Caregiver Perspective of Benefits and Side Effects of Anti-Seizure Medications in CDKL5 Deficiency Disorder from an International Database

CDKL5 deficiency disorder presents as a challenging condition with early-onset refractory seizures, severe developmental delays, and a range of other neurological symptoms. Our study aimed to explore the benefits and side effects of anti-seizure medications in managing seizures among individuals with CDKL5 deficiency disorder, drawing on data from the International CDKL5 Disorder Database.  

Distinguishing benign from pathologic TH2 immunity in atopic children

In addition to its role in blocking TH2 effector activation in the late-phase allergic response, IL-10 is a known IgG1 switch factor

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy

Assessment of the potency and potential immunomodulatory effects of the Measles Mumps Rubella-Varicella vaccine in infants

This study compared the potency and immunomodulatory effects of measles mumps rubella (MMR) vaccine given to infants alone or in combination with varicella...

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Allergen-specific immunoglobulin E (present in allergic sensitization) has a central role in the pathogenesis of allergic disease.

Genetic polymorphism of KIR2DL4 (CD158d), a putative NK cell receptor for HLA-G, does not influence susceptibility to asthma

No reproducible associations with KIR2DL4 genotype were identified, leading us to conclude that the KIR2DL4 9A/10A polymorphism has no influence...