Genetics of fetal abnormalities and early childhood diseases
PI: Philip Stanier
We study genetic, epigenetic and consequential biological mechanisms leading to disorders of embryonic development and fetal growth. We focus on cleft lip and palate, neural tube defects, rare diseases of skeletal development and intellectual disability, and fetal growth restriction. We aim to provide a better understanding of these, often multifactorial conditions, leading to improved diagnosis and treatment.
Funding: MRC, Newlife, CLEFT, GOSHCC
Our current research focuses on:
1) Cleft lip and palate (CLP)
Gene discovery in both syndromic and nonsyndromic CLP families; Understanding the role of novel genes in embryonic development; Investigation of novel phenotypes including submucous cleft palate and absent uvula; Dissecting the role of TBX22 during palate development.
2) Neural tube defects (NTDs)
Gene discovery in NTD families; Effect of dietary folic acid in a folate responsive NTD mouse model; Use of multi-omic approaches to understanding the molecular basis of human NTDs.
3) Rare syndromes
Investigating the molecular and biochemical basis of SCAR20 disease (SNX14 – loss-of-function mutations) and Lenz-Majewski syndrome (PTDSS1 – gain-of-function mutations), with a view to improved characterisation, diagnosis and the development of novel therapies. Genetics of fetal growth restriction including Silver Russell syndrome.