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ANAVAJ SAKUNTABHAI M.D.(Thailand), M.D.(Newcastle, UK), D. Phil. (Oxon)
Honorary Assistant Professor
The Wellcome Trust Centre for Human Genetics
Professional experience since graduation
Laboratoire de Génétique de la réponse aux
UP de Génétique des Maladies Infectieuses
The Wellcome Trust Centre for Human Genetics
Professional experience since graduation (continue)
Faculty of Medicine Ramathibodi Hospital
The Royal Thai government scholarship for PhD study
After graduation from Faculty of Medicine, Chulalongkorn University in 1986, I spent 1 year in
Southern part of Thailand as a resident in general medicine in Songkhla Nakarind Hospital, Prince of Songkhla University. I then came back to Bangkok and started my training in Dermatology at the
Faculty of Medicine Ramathibodi Hospital, Mahidol University. After finished my training, I spent 2
years in Department of Dermatology, University of Newcastle upon Tyne, U.K. as research fellowship.
During that period, I involved in photobiological research to understand response of skin to ultraviolet
light in order to improve photo and photochemotherapy, which are used for treatment of several skin
disorders. I had several publications during that period and also obtained a Doctor of Medicine degree from the University of Newcastle upon Tyne. I came back to Thailand and got a lecturer position,
which then later became assistant professor in Dermatology, Department of Medicine, Faculty of
Medicine Ramathibodi Hospital, Mahidol University.
Title of research: Photobiological, pharmacological and clinical studies of PUVA
from 1 October 1990 to 30 August 1992, Research fellow, Department of
Dermatology, University of Newcastle upon Tyne, UK- Prof. Sam Shuster and Dr Peter Farr.
In this project, I optimized treatment protocol for PUVA photochemotherapy for psoriasis. This treatment
protocol ,which involved twice-weekly treatment with higher UVA dose increment is based on
photobiological and pharmacological studies. UK photobiological society has now adopted this protocol as
a standard treatment of PUVA photochemotherapy for psoriasis. PhD training
During 4 years as assistant professor in Dermatology, I was responsible for 3 main activities: teaching
medical students, training residents and research fellows in Dermatology and researches. For the last
activity, I feel that I have limitation in many aspects especially knowledge in basic sciences.
Therefore, I decided to leave my clinical carrier and came to University of Oxford to get involved in
basic sciences researches and obtained my PhD in human genetics with Prof Mark Lathrop.
Title of research : Positional cloning of Darier’s disease gene,
from 1 October 1996 to 30
August 1999, PhD study, The Wellcome Trust Centre for Human Genetics-Oxford, UK- Prof. Mark
Darier’s disease (DD) is an autosomal dominant skin disorder. The gene for DD has been mapped to
long arm of chromosome 12 by linkage analysis of the families. I involved in construction of genomic
clones contig of this region, which is a part of the Human Genome Project. I identified the genes located in this area and later discover mutations of ATP2A2 gene as a cause of the disease (ref 18).
This gene involves in calcium signalling of the epithelial cells.
When I finished my PhD, Dr Cecile Julier asked me to join her group at the Institut Pasteur to work
on projects to study genetics of infectious diseases. This is a good opportunity for me to have experiences in genetics of multi-factorial diseases. Secondly, I can collaborate with my colleagues in
Thailand and give training to junior scientists. Therefore, I started my carrier as a research scientist in
Unité Postulant Unité Postulante de Génétique des Maladies infectieuses et autoimmunes in January
2000. I conduct 2 main projects in the unit.
Title of research : Genetic susceptibility to clinical malaria
, from January 2000 to now, unité
postulante des maladies infectieuses et autoimmunes, Institut Pasteur, Paris.
In this project we apply human molecular genetic approaches to search for genes involved in
susceptibility to clinical malaria. We performed systematic genome screening and candidate genes
approaches in populations living in malaria endemic areas in Africa and South-East Asia. The
populations have been followed for malaria morbidity for more than 10 years. we found heritability of susceptibility to clinical malaria attacks, asymptomatic parasite density and gametocytemia of
Plasmodium falciparum. From genome linkage analysis, we found 2 addition loci on chromosome 5p
and 13q, which showed linkage to number of clinical malaria attacks in addition to previous report of
5q31 with asymptomatic parasite density.
In addition to the Senegalese project, we collaborate with a group in Thailand to conduct a similar
study in villages located near Thai-Myanmar border. The populations have been followed for more
than 10 years as in Senegal. The major differences between the 2 projects are genetic background of
the population, malaria transmission intensity and presence of Plasmodium vivax in the later project.
Genome scan linkage analysis was performed and the region on chromosome 5p was replicated. We
are now working to identify gene in this region form the cohorts studied. Title of research : Genetic susceptibility to Dengue infection
, from October 2001 to now,
unité postulante des maladies infectieuses et autoimmunes, Institut Pasteur, Paris.
In this project, we test for associations of several candidate genes in a case-control cohort of patients
with dengue fever, dengue hemorrhagic fever and normal controls. We found a variant of promoter of CD209 (DC-SIGN1) associated with protection against dengue fever (ref 27). We are testing other
candidate genes as well as starting systematic wide genome association study.
1 Coffey LL, Mertens E, Brehin AC, Fernandez-Garcia MD, Amara A, Després P, Sakuntabhai A
Human genetic determinants of dengue virus susceptibility. Microbes Infect. 2008 Dec 24.
2 A global network for investigating the genomic epidemiology of malaria. Malaria Genomic
Epidemiology Network. Nature. 2008 Dec 11;456(7223):732-7.
3 Phimpraphi W, Paul R, Witoonpanich B, Turbpaiboon C, Peerapittayamongkol C, Louicharoen C,
Casademont I, Tungpradabkul S, Krudsood S, Kaewkunwal J, Sura T, Looareesuwan S, Singhasivanon
P, Sakuntabhai A.
Heritability of P. falciparum and P. vivax malaria in a Karen population in
Thailand. PLoS ONE. 2008;3(12):e3887. Epub 2008 Dec 8.
4 Bréhin AC, Casadémont I, Frenkiel MP, Julier C, Sakuntabhai A
, Desprès P. The large form of
human 2',5'-Oligoadenylate Synthetase (OAS3) exerts antiviral effect against Chikungunya virus.
5 Phimpraphi W, Paul RE, Yimsamran S, Puangsa-Art S, Thanyavanich N, Maneeboonyang W,
Prommongkol S, Sornklom S, Chaimungkun W, Chavez IF, Blanc H, Looareesuwan S, Sakuntabhai
, Singhasivanon P. Longitudinal study of Plasmodium falciparum and Plasmodium vivax in a Karen
population in Thailand. Malar J. 2008 Jun 2;7(1):99.
6 Sakuntabhai A
, Ndiaye R, Casadémont I, Peerapittayamonkol C, Rogier C, Tortevoye P, Tall A, Paul
R, Turbpaiboon C, Phimpraphi W, Trape JF, Spiegel A, Heath S, Mercereau-Puijalon O, Dieye A, Julier
C. Genetic determination and linkage mapping of Plasmodium falciparum malaria related traits in Senegal. PLoS ONE. 2008 Apr 23;3(4):e2000.
7 Tocharoentanaphol C, Promso S, Zelenika D, Lowhnoo T, Tongsima S, Sura T, Chantratita W,
Matsuda F, Mooney S, Sakuntabhai A
. Evaluation of resequencing on number of tag SNPs of 13
atherosclerosis-related genes in Thai population. J Hum Genet. 2008;53(1):74-86. Epub 2007 Nov 28.
8 Patin E, Barreiro LB, Sabeti PC, Austerlitz F, Luca F, Sajantila A, Behar DM, Semino O, Sakuntabhai
, Guiso N, Gicquel B, McElreavey K, Harding RM, Heyer E, Quintana-Murci L. Deciphering the
ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am J Hum
Genet. 2006 Mar;78(3):423-36. Epub 2006 Jan 13.
, Julier C. [A variant in the CD209 (DC-SIGN) promoter is associated with
severity of dengue disease] Med Sci (Paris). 2005 Nov;21(11):905-6. French.
10 Ndiaye R, Sakuntabhai A
, Casademont I, Rogier C, Tall A, Trape JF, Spiegel A, Dieye A, Julier C.
Genetic study of ICAM1 in clinical malaria in Senegal. Tissue Antigens. 2005 May;65(5):474-80.
11 Sakuntabhai A
, Turbpaiboon C, Casademont I, Chuansumrit A, Lowhnoo T, Kajaste-Rudnitski A,
Kalayanarooj SM, Tangnararatchakit K, Tangthawornchaikul N, Vasanawathana S, Chaiyaratana W,
Yenchitsomanus PT, Suriyaphol P, Avirutnan P, Chokephaibulkit K, Matsuda F, Yoksan S, Jacob Y,
Lathrop GM, Malasit P, Despres P, Julier C. A variant in the CD209 promoter is associated with
severity of dengue disease. Nat Genet. 2005 May;37(5):507-13.
12 Dhitavat J, Dode L, Leslie N, Sakuntabhai A
, Lorette G, Hovnanian A. Mutations in the
sarcoplasmic/endoplasmic reticulum Ca2+ ATPase isoform cause Darier's disease. J Invest Dermatol.
13 Trachoo O, Sura T, Sakuntabhai A
, Singhasivanon P, Krudsood S, Phimpraphi W, Krasaesub S,
Chanjarunee S, Looareesuwan S. Molecular characterization of hereditary persistence of fetal
hemoglobin in the Karen people of Thailand. Hemoglobin. 2003 May;27(2):97-104.
14 Hirunsatit R, Kongruttanachok N, Shotelersuk K, Supiyaphun P, Voravud N, Sakuntabhai A
Mutirangura A. Polymeric immunoglobulin receptor polymorphisms and risk of nasopharyngeal
15 Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A
, MacSween R, Saihan E, Hovnanian A.
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to
Darier's disease. J Invest Dermatol. 2003 Feb;120(2):229-32.
16 Sheridan AT, Hollowood K, Sakuntabhai A
, Dean D, Hovnanian A, Burge S. Expression of
sarco/endo-plasmic reticulum Ca2+-ATPase type 2 isoforms (SERCA2) in normal human skin and
mucosa, and Darier's disease skin. Br J Dermatol. 2002 Oct;147(4):670-4.
17 Sakuntabhai A
, Dhitavat J, Burge S, Hovnanian A Mosaicism for ATP2A2 Mutations Causes
Segmental Darier's Disease. J Invest Dermatol. 2000 Dec;115(6):1144-1147.
18 Powell J, Sakuntabhai A
, James M, Burge S, Hovnanian A. Grover's disease, despite histological
similarity to Darier's disease, does not share an abnormality in the ATP2A2 gene. Br J Dermatol. 2000
19 Sakuntabhai, A., S. Burge, S. Monk, and A. Hovnanian. Spectrum of novel ATP2A2 mutations in
patients with Darier’s disease. Hum. Mol .Genet ., 1999 Sep;8(9):1611-9.
20 Sakuntabhai A
, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Melanie S, Munro CS,
O’Donovan M, Kucherlapati R, Owen M, Lathrop GM, Monaco AP, Strachan T, and Hovnanian A. Mutation in ATP2A2, encoding a Ca2+ pump, cause Darier’s disease. Nature Genetics 1999; 21(3):
21 Sakuntabhai A
, Hammami-Hausli N, Bodemer C, Rochat A, Prost C, Barrandon Y, de Prost Y,
Lathrop M, Wojnarowska F, Bruckner-Tuderman L, and Hovnanian A. Deletion within COL7A1 exons
distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant
dystrophic epidermolysis bullosa. Am J Hum Genet 1998; 63:737-748.
22 Monk S*, Sakuntabhai A
*, Carter S, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL,
Katsasoni E, Kodvawala A, Munro CS, Burge S, Larregue M, Nagy G, Rees JL, Lathrop M, Monaco AP,
Strachan T and Hovnanian A. A refined genetic mapping of the Darier locus to a 1-cM region of
chromosome 12q24.1 and construction of a complete high-resolution PAC and BAC contig of the critical region. Am J Hum Genet 1998; 62:890-903. * joint first author
23 Renault B, Hovnanian A, Bryce S, Chang J, Lau S, Sakuntabhai A
, Monk S, Carter S, Ross CJD, Pang
J, Twells R, Chamberlain S, Monaco AP, Strachan T, and Kucherlapati R. A sequence ready physical
map of 12q24.1 Genomics 1997; 45(2):271-8.
24 de Berker DA, Sakuntabhai A
, Diffey BL, Matthews JN, Farr PM. Comparison of psoralen-UVB and
psoralen-UVA photochemotherapy in the treatment of psoriasis. J Am Acad Dermatol 1997; 36(4): 577-81.
25 Mutirangura A, Supiyaphun P, Trirekapan S, Sriuranpong V, Sakuntabhai A
, Yenrudi S, Voravud N.
Telomerase activity in oral leukoplakia and head and neck squamous cell carcinoma. Cancer Res
26 Sakuntabhai A
, Diffey BL, Farr PM. Calculation of 8 methoxypsoralen dose according to body
surface area in PUVA treatment. Br J Dermatol 1995; 133: 919-23.
27 Pauvilai S, Sakuntabhai A
, Sriprachaya-Anunt S, Rajatanavin N, Charuwichitratana S. Etilogy of
erythema nodosum. J Med Assoc Thai 1995; 78(2): 72-5.
28 Lawrence C, Sakuntabhai A
, Tilling-Grosse S. Effect of aspirin and nonsteriodal antiinflammatory
drug therapy on bleeding complications in dermatologic surgical patients. J Am Acad Dermatol 1994;
29 Puavilai S, Puavilai G, Charuwichitratana S, Sakuntabhai A
, Sriprachaya-Anunt S. Prevalence of
thyroid diseases in patients with alopecia areata. Int J Dermaotol 1994; 31(9): 632-3.
30 Sakuntabhai A
, Matthews JNS, Farr PM. Improved prediction of the minimal phototoxic dose in
PUVA therapy. Br J Dermatol 1994; 130: 604-9.
31 Sakuntabhai A
, Macleod RI, Lawrence CM. Intralesional steroid injection after nerve block
anaesthesia in treatment of orofacial granulomatosis. Arch Dermatol 1993; 129: 477-80.
32 Sakuntabhai A
, Farr PM, Diffey BL. PUVA erythema sensitivity depends on plasma concentration
and UVA sensitivity Br J Dermatol 1993; 128: 561-5.
33 Sakuntabhai A
, Diffey BL, Farr PM. Response of psoriasis to psoralen UVB photochemotherapy. Br J
34 Sakuntabhai A
, Sharpe GR, Farr PM. Response of psoriasis to twice weekly PUVA. Br J Dermatol
35 Puavilia S, Charuwichitratana S, Polnikorn N, Sakuntabhai A
, Timpatanapong P. Clinical and
histopathological features of secondary syphilis. J Med Assoc Thai 1993; 76(2): 85-92.
36 Sakuntabhai A
, Macleod RI, Lawrence CM. Intralesional steroid injection after nerve-block in
orofacial granulomatosis. Lancet 1992; 340(8825): 969.
37 Sakuntabhai A
, Timpatanapong P. Topical steroid induced chronic demodicidosis J MED Assoc Thai
• Phototherapy, update in the management of psoriasis, International conference on skin
therapy update 1995, Singapore, October 1995.
• Human genetics of severe or cerebral malaria, Joint International Tropical Medicine Meeting
• Genomic approach in searching for genes involved in clinical malaria, BIOTHILAND 2001,
• Genomic approach in searching for genes involved in differential susceptibility to plasmodium
species malaria. Vivax Malaria Research: 2002 and Beyond, February 2002, Bangkok, thailand
• Genomic approach in searching for genes involved in clinical malaria, InCoB2002, February
• Genome screening for clinical malaria, 4th HUGO Pacific Meeting & 5th Asia-Pacific
Conference of Human Genetics, October 2002, Pattaya, Thailand.
• The 8th International Meeting Molecular Epidemiology and Evolutionary Genetics of Infectious
Diseases (MEEGID VIII) will be held in Bangkok, Thailand, 30th November-4th December
2006. Title: Genome scan linkage study of clinical malaria in Senegal and Thailand
• The Japan Society for the Promotion of Science (JSPS) meeting, March 2007, Kyoto, Japan
Title: Genetic susceptibility to Dengue virus infection
• The Pasteur/NHRI/CDC Symposium on Re-emerging Virus Infection, Sept. 1-3 2006, Tainan,
Taiwan Title: A variant located in the promoter of the CD209 (DC-SIGN) gene is associated
• EMBO meeting, Genetics and Mechanisms of Susceptibility to Infectious Diseases Institut
Oral: Genetics Susceptibility to Dengue viral infection
Poster: Genetic determination and linkage mapping of malaria related traits in Senegal and
• The 3rd AREVA_Pasteur Forum, on Mosquito- and Tick-Borne Viruses, Shanghai, China, June
Topic Genetics susceptibility to emerging arboviral infection
• Genomic Epidemiology of Malaria Conference 15-18 June 2008, The Welcome Trust Sanger
Topic Genetic determination and linkage mapping of malaria related traits in Senegal and
Oral presentations at International Meetings
1. Sakuntabhai A, Sharpe GR, Farr PM. Improved efficiency and efficacy of PUVA for psoriasis
with twice weekly treatment. Annual meeting of the British Association of Dermatologists,
2. Sakuntabhai A, Farr PM, Diffey BL. PUVA erythemal sensitivity depends on plasma psoralen concentrations and UVA sensitivity. Annual meeting of the British Society of Investigative
3. Sakuntabhai A, Macleod RI, Lawrence CM. Successful treatment of orofacial granulomatosis
with intralesional triamcinolone and mental nerve block. Annual meeting of the British Association
of Dermatologist, Bournemouth, UK. 1992.
4. Sakuntabhai A, Farr PM, Diffey BL. Response of psoriasis to psoralen and UVB
photochemotherapy (PUVB). Annual Meeting of the British Society of Investigative Dermatology,
5. Sakuntabhai A, Farr PM, Diffey BL. Variable photosensitivity and clinical response of psoriasis to PUVA with conventional 8-methoxypsoralen dosage. Annual meeting of the British Society of
Investigative Dermatology, Sheffield, UK., 1992
6. Sakuntabhai A, Diffey BL, Farr PM. Photoadaptation during 1st and 2nd weeks of PUVA
treatment for psoriasis. Sixth International Psoriasis Symposium, Chicago, IL USA, 1994.
7. Sakuntabhai A, Pornsuriyasak P, Sura T, Pauvilai S. Response of idiopathic erythema
nodosum with isoniazid treatment. World Congress of Dermatology, Sydney, Australia, 1997.
8. Sakuntabhai A, Monk S, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL,
Katsantoni E, Kodvawala A, Munro CS, Burge S, Nagy G, Larregue M, Rees JL, Lathrop M, Monaco
AP, Stractan T, Hovnanian A. Refine genetic and physical mapping of the Darier locus on
chromosome 12q24.1. 8th International Congress Pediatric Dermatology, Paris, France, 1998. 9. Sakuntabhai A, Monk S, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL,
Katsantoni E, Kodvawala A, Munro CS, Burge S, Nagy G, Larregue M, Rees JL, Lathrop M, Monaco
AP, Stractan T, Hovnanian A. Further refined mapping of the Darier disease locus and
construction of a partial transcript map of the critical region. Annual Meeting of the British Society
of Investigative Dermatology,Cardiff, UK, April 1999 10. Sakuntabhai A, Burge S, Hovnanian A. Erosive Darier’s disease is allelic to classical Darier’s
disease. Annual meeting of the British Association of Dermatologist, Edinburgh, UK, - July 1999
Scarlett Phan-Weston RRASC Summer Internship NYU School of Medicine Reproductive Choice at Bellevue Hospital My ten-week internship was based in New York at Bellevue Hospital and I worked closely with my supervisor, Dr. Miriam Cremer, on a chapter review on New Formulations of Oral Contraception for the journal, Seminars in Reproductive Medicine. This research project was a huge component
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