Douglas Higgs

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Douglas Higgs
Born13 January 1951, 1951  OOjs UI icon edit-ltr-progressive.svg (age 70)
Alma mater

Douglas Roland Higgs (born 13 January 1951) [1] FRS is a Professor of Molecular Haematology and director of 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. [1] [4] In 2012 Higgs was appointed director of the Wetherall Institute of Molecular Medicine. [4] [5] Higgs is a Senior Kurti Fellow at Brasenose College, Oxford. [6]

Honours and awards


Gibbons, Richard J; Picketts, David J; Villard, Laurent; Higgs, Douglas R (1995). "Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)". Cell. 80 (6): 837–845. doi: 10.1016/0092-8674(95)90287-2 . PMID   7697714. S2CID   16411046.

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. ISSN   1546-1718. PMID   12730694. S2CID   7226446.

Higgs, D. R.; Goodbourn, S. E. Y.; Lamb, J.; Clegg, J. B.; Weatherall, D. J.; Proudfoot, N. J. (1983). "α-Thalassaemia caused by a polyadenylation signal mutation". Nature. 306 (5941): 398–400. doi:10.1038/306398a0. ISSN   1476-4687. PMID   6646217. S2CID   4332750.

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. doi:10.1038/346868a0. ISSN   1476-4687. PMID   1975428. S2CID   4239520.

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. PMID   3032452. S2CID   54349888.

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. doi:10.1126/science.1126431. ISSN   0036-8075. PMID   16728641. S2CID   16044469.

Law, Martin J.; Lower, Karen M.; Voon, Hsiao P.J.; Hughes, Jim R.; Garrick, David; Viprakasit, Vip; Mitson, Matthew; De Gobbi, Marco; Marra, Marco (2010). "ATR-X Syndrome Protein Targets Tandem Repeats and Influences Allele-Specific Expression in a Size-Dependent Manner". Cell. 143 (3): 367–378. doi: 10.1016/j.cell.2010.09.023 . PMID   21029860.

Hughes, Jim R; Roberts, Nigel; McGowan, Simon; Hay, Deborah; Giannoulatou, Eleni; Lynch, Magnus; De Gobbi, Marco; Taylor, Stephen; Gibbons, Richard (2014). "Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment". Nature Genetics. 46 (2): 205–212. doi:10.1038/ng.2871. ISSN   1546-1718. PMID   24413732. S2CID   205348099.

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. ISSN   1546-1718. PMID   10742099. S2CID   8847855.

Hay, Deborah; Hughes, Jim R; Babbs, Christian; Davies, James O J; Graham, Bryony J; Hanssen, Lars L P; Kassouf, Mira T; Oudelaar, A Marieke; Sharpe, Jacqueline A (2016). "Genetic dissection of the α-globin super-enhancer in vivo". Nature Genetics. 48 (8): 895–903. doi:10.1038/ng.3605. ISSN   1546-1718. PMC   5058437 . PMID   27376235.

Related Research Articles

Thalassemia Medical condition

Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia. Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth may occur in children.

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Alpha-thalassemia Thalassemia involving the genes HBA1and HBA2 hemoglobin genes

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.

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Sir David John Weatherall, was a British physician and researcher in molecular genetics, haematology, pathology and clinical medicine.

Alpha-thalassemia mental retardation syndrome Medical condition

Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked mental retardation, 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 Mammalian protein found in Homo sapiens

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.


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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

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Hemoglobin, alpha 2

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Ketan J. Patel

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Weatherall Institute of Molecular Medicine

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  1. 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.
  2. "Archived copy". Archived from the original on 27 September 2011. Retrieved 25 March 2011.CS1 maint: archived copy as title (link)
  3. 1 2 "Douglas Higgs". Retrieved 16 March 2018.
  4. 1 2 MRC, Medical Research Council (18 May 2017). "Top haematologist announced as new Director of MRC Weatherall Institute of Molecular Medicine". Retrieved 16 March 2018.
  5. "New Weatherall Institute of Molecular Medicine director announced – Weatherall Institute of Molecular Medicine". University of Oxford. Retrieved 16 March 2018.
  6. "The Brazen Nose" (PDF). 2009–2010.
  7. "Professor Douglas Higgs | The Academy of Medical Sciences". Retrieved 16 March 2018.
  8. "Buchanan Medal Awarded – Weatherall Institute of Molecular Medicine". University of Oxford. Archived from the original on 17 March 2018. Retrieved 16 March 2018.
  9. "The Buchanan Medal (1897)". The Royal Society. Retrieved 12 September 2013.