Fellow of the Royal College of Pathologists (1994)
Douglas Roland HiggsFRS (born 13 January 1951)[1] is a Professor of Molecular Haematology at the Weatherall Institute of Molecular Medicine, at the University of Oxford.[2] He is known for his work on the regulation of alpha-globin and the genetics of alpha-thalassemia.[3] He is currently working in understanding the mechanisms by which any mammalian gene is switched on and off during differentiation and development.
He was educated at Alleyn's School and qualified in medicine at King's College Hospital Medical School in 1974, and trained as a haematologist.[1] He became a registrar in Haematology at Kings College Hospital in 1976.
Research and career
He joined the Molecular Haematology Unit of the Medical Research Council at Oxford in 1977. In 1996 he was appointed Ad Hominem Professor of Molecular Haematology. In 2001, he became a director of the MRC Molecular Haematology Unit (MHU).[1][4] In 2012, Higgs was appointed director of the Weatherall Institute of Molecular Medicine (WIMM).[4][5] In 2020, Higgs was succeeded as director of the MRC MHU and WIMM by Ketan J. Patel.[6] Higgs is a Senior Kurti Fellow at Brasenose College, Oxford.[7]
2013 Buchanan Medal of the Royal Society[9][10] for "his seminal work on the regulation of the human alpha-globin gene cluster and the role of the ATRX protein in genetic disease."
Tufarelli, Cristina; Stanley, Jackie A Sloane; Garrick, David; Sharpe, Jackie A; Ayyub, Helena; Wood, William G; Higgs, Douglas R (2003). "Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease". Nature Genetics. 34 (2): 157–165. doi:10.1038/ng1157. ISSN1546-1718. PMID12730694. S2CID7226446.
Wilkie, Andrew O. M.; Lamb, Janette; Harris, Peter C.; Finney, Roger D.; Higgs, Douglas R. (1990). "A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n". Nature. 346 (6287): 868–871. Bibcode:1990Natur.346..868W. doi:10.1038/346868a0. ISSN1476-4687. PMID1975428. S2CID4239520.
Nicholls, R.D.; Fischel-Ghodsian, N.; Higgs, D.R. (1987). "Recombination at the human α-globin gene cluster: Sequence features and topological constraints". Cell. 49 (3): 369–378. doi:10.1016/0092-8674(87)90289-3. PMID3032452. S2CID54349888.
De Gobbi, Marco; Viprakasit, Vip; Hughes, Jim R.; Fisher, Chris; Buckle, Veronica J.; Ayyub, Helena; Gibbons, Richard J.; Vernimmen, Douglas; Yoshinaga, Yuko (26 May 2006). "A Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter". Science. 312 (5777): 1215–1217. Bibcode:2006Sci...312.1215D. doi:10.1126/science.1126431. ISSN0036-8075. PMID16728641. S2CID16044469.
Higgs, Douglas R.; Gibbons, Richard J.; McDowell, Tarra L.; Raman, Sundhya; O'Rourke, Delia M.; Garrick, David; Ayyub, Helena (2000). "Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation". Nature Genetics. 24 (4): 368–371. doi:10.1038/74191. ISSN1546-1718. PMID10742099. S2CID8847855.
Thalassemias are inherited blood disorders that result in abnormal hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe. Often there is mild to severe anemia as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms of anemia include feeling tired and having pale skin. Other symptoms of thalassemia include bone problems, an enlarged spleen, yellowish skin, pulmonary hypertension, and dark urine. Slow growth may occur in children. Symptoms and presentations of thalassemia can change over time.
Hemoglobin A (HbA), also known as adult hemoglobin, hemoglobin A1 or α2β2, is the most common human hemoglobin tetramer, accounting for over 97% of the total red blood cell hemoglobin. Hemoglobin is an oxygen-binding protein, found in erythrocytes, which transports oxygen from the lungs to the tissues. Hemoglobin A is the most common adult form of hemoglobin and exists as a tetramer containing two alpha subunits and two beta subunits (α2β2). Hemoglobin A2 (HbA2) is a less common adult form of hemoglobin and is composed of two alpha and two delta-globin subunits. This hemoglobin makes up 1-3% of hemoglobin in adults.
Alpha-thalassemia is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Normal hemoglobin consists of two alpha chains and two beta chains; in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell destruction. The degree of impairment is based on which clinical phenotype is present.
Sir David John Weatherall, was a British physician and researcher in molecular genetics, haematology, pathology and clinical medicine.
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, is an X-linked recessive condition associated with a mutation in the ATRX gene. Males with this condition tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly, hypertelorism, a depressed nasal bridge, a tented upper lip and an everted lower lip. Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition. Females with this mutated gene have no specific signs or features, but if they do, they may demonstrate skewed X chromosome inactivation.
Hemoglobin subunit beta is a globin protein, coded for by the HBB gene, which along with alpha globin (HBA), makes up the most common form of haemoglobin in adult humans, hemoglobin A (HbA). It is 147 amino acids long and has a molecular weight of 15,867 Da. Normal adult human HbA is a heterotetramer consisting of two alpha chains and two beta chains.
Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.
Hemoglobin subunit gamma-1 is a protein that in humans is encoded by the HBG1 gene.
Hemoglobin subunit epsilon is a protein that in humans is encoded by the HBE1 gene.
Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.
Hemoglobin subunit zeta is a protein that in humans is encoded by the HBZ gene.
Hemoglobin, alpha pseudogene 1, also known as HBAP1, is a human gene.
Hemoglobin subunit theta-1 is a protein that in humans is encoded by the HBQ1 gene.
Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin.
Ketan Jayakrishna Patel is a British-Kenyan scientist who is Director of the MRC Weatherall Institute of Molecular Medicine and the MRC Molecular Haematology Unit at the University of Oxford. Until 2020 he was a tenured principal investigator at the Medical Research Council (MRC) Laboratory of Molecular Biology (LMB).
Hemoglobin H (Hb H)Disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes.
Sir Andrew James McMichael, is an immunologist, Professor of Molecular Medicine, and previously Director of the Weatherall Institute of Molecular Medicine at the University of Oxford. He is particularly known for his work on T cell responses to viral infections such as influenza and HIV.
Swee Lay Thein is a Malaysian haematologist and physician-scientist who is Senior Investigator at the National Institutes of Health. She works on the pathophysiology of haemoglobin disorders including sickle cell disease and thalassemia.
The MRC Weatherall Institute of Molecular Medicine at the University of Oxford is a research institute located at the John Radcliffe Hospital in Oxford. Founded in 1989 by Sir David Weatherall, the institute focuses on furthering our understanding of clinical medicine at a molecular level. It was one of the first institutes of its kind in the world to be dedicated to research in this area.
Clair A. Francomano is an American medical geneticist and academic specializing in Ehlers–Danlos syndromes. She is Professor of Medical and Molecular Genetics at Indiana University.
References
1 2 3 4 5 "Higgs, Prof. Douglas Roland, (born 13 Jan. 1951), Professor of Haematology, since 1996, director, MRC Molecular Haematology Unit, since 2001, and director, Weatherall Institute of Molecular Medicine, since 2012, University of Oxford". Higgs, Prof. Douglas Roland. UK WHOS WHO. 2007. doi:10.1093/ww/9780199540884.013.244900.
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