I am a human geneticist working with a cohort of about 1,000 sickle cell disease patients in collaboration with clinical researchers at KCL and allied hospitals (1). I am studying the persistence of fetal haemoglobin (HbF) in these patients and 5,500 non-anaemic individuals in collaboration with the Twin Research Department at KCL (2).

HbF is a major severity modifying factor in sickle cell disease. My international collaborations include researchers in Tanzania (3), Nigeria and Brazil. My main approach has been the detection of genetic factors in the patients and in control populations that influence fetal haemoglobin levels. Our group has discovered two major genetic HbF modifiers (2), which were later confirmed as severity modifiers for sickle cell disease (3) and also for beta thalassaemia.

Before my work in sickle cell disease, my research was focused on diabetes, where I was involved in the discovery of genes causing, when defect, familial forms of type 2 diabetes (‘MODY’, ref. (4) and (5)) and then in the first genome-wide linkage scan for ordinary type 2 diabetes (6). Both were at the University of Chicago. I continued these studies at Oxford University (working with a similar, British, cohort), before moving to London and into haematology.

 

(1) Menzel S et al.. Global Genetic Architecture of an Erythroid Quantitative Trait Locus, HMIP-2.Ann Hum Genet. 2014 Jul 29

(2) Menzel S et al. Genome-wide association maps a QTL influencing F cell production to a Zn finger protein on chromosome 2p15. Nat Genet 39 (2007), 1197-1199

(3) Mtatiro SN, …, Menzel S*, Cox SE* (*joint last). Genetic variants at HbF-modifier loci moderate anemia and leukocytosis in sickle cell disease in Tanzania. Am J Hematol. 2014 Sep 27.

(4) Yamagata K., …, Menzel S.,et al. (1996) Mutations in the hepatocyte nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3). Nature 384:455-458

(5) Yamagata K, … , Menzel S et al. (1996) Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1). Nature 384:458-460.

(6) Hanis CL, …, Menzel S, et al. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 13 (1996), 161-166