Haematology research

1. Identification and characterization of the gene (DKC1) mutated in X-linked dyskeratosis congenita (DC) and the Hoyeraal-Hreidarsson syndrome (a severe paediatric disorder characterized by multiple developmental abnormalities, immunodeficiency and bone marrow failure).

2. Telomerase RNA component (TERC) and telomerase reverse transcriptase (TERT) are mutated in autosomal dominant DC and a subset of patients with idiopathic aplastic anaemia (AA) and myelodysplasia (MDS).

3. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to heterozygous mutations in TERC ; this has provided the second mechanism of disease anticipation in humans.

4. NOP10 is mutated in one subtype of autosomal recessive DC.

5. Collectively, these advances have provided a link between DC/AA and defective telomerase, new diagnostic tests and possible strategies for developing new treatments for AA.

 

Neonatal and Respiratory research

1. Provided the first direct evidence that exposure to particulate air pollution impairs lung growth in children. This study used a novel method for assessing individual exposure.

2. Described the first study to utilise the geographical information system (GIS) technology to assess the association between locally-generated air pollution and respiratory symptoms in a large cohort of UK preschool children.

3. Described the first trial in UK paediatric population relating to therapeutic response by asthma phenotype.

4. Described the first trial of Fluticasone in preschool children with intermittent wheeze.

5. Established influences of ethnicity, foetal growth restriction, maternal smoking and the effect of preterm birth itself on the development of the lung in the premature baby.