.นพ. วรศักดิ์  โชติเลอศักดิ์
     (Prof. Vorasuk Shotelersuk, M.D.)

  •  ตำแหน่ง
    • ศาสตราจารย์
    • Head of  Division of Medical Genetics and Metabolism,
    • Head of the Molecular Genetics in Medicine Research Unit,

  • วุฒิการศึกษา M.D.: Chulalongkorn University, Bangkok, Thailand
  • ที่ทำงาน Department of Pediatrics, Faculty of Medicine, Chulalongkorn University Bangkok 10330, Thailand Phone: (66-2) 252-8181 - 9 ext 3354 Fax: (66-2) 256-4911
  • Email: vorasuk.s@chula.ac.th

      EDUCATION:

     1992 M.D.:ChulalongkornUniversity,Bangkok,Thailand                                                                                                                                                                                  

POSTDOCTORAL TRAINING:

1992 - 1996  Pediatric Residency, Department of Pediatrics, Faculty of Medicine,Chiang Mai University, Chiang Mai, Thailand.

1996 - 1999  Visiting Associate/Medical Staff Fellow, Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH,USA.

1996 - 1999 Clinical Genetics Resident and Clinical Biochemical Genetics Fellow, Metropolitan Washington DC Medical Genetics Residency and Fellowship Program, National Human Genome Research  Institute, National Institutes of Health, USA.

      CERTIFICATES & DIPLOMAS: 

      1992    Doctor of Medicine (First Class Honors) from Faculty of Medicine, Chulalongkorn University, Thailand

      1993    Graduate Diploma in Clinical Sciences (Pediatrics) from Faculty of Medicine, Chiang Mai University, Thailand 

      1994    Certificate from the Educational Commission for Foreign Medical Graduates, USA Number 0-493-489-9

      1996    Diplomate of the Thai Board of Pediatrics from the Medical Council of Thailand.

      1999    Graduate diploma in Clinical Genetics and Clinical Biochemical from Metropolitan Washington,  Genetics DC Medical Genetics Residency Program, National Human Genome Research Institute, National Institutes of Health, USA.

      1999    Diplomate of the American Board of Medical Genetics as a Clinical Geneticist and Clinical Biochemical Geneticist Certificate # 99137

MEDICAL LICENSURE:

Unrestricted Medical License No. 17799 (The Medical Council of Thailand) Issued on April 1, 1992                 

Licensed physician and surgeon. State of Illinois, Department of Professional Regulation. License No. 036-099491. Issued on January,1999 (Inactive

               

       MEMBERSHIP:

       1992-present  Member of the Medical Council of Thailand                             

       1996-present  Member of the Pediatric Society of Thailand (#1395)

       1996-present  Member of the Royal College of Pediatricians of Thailand (#1065)   

       1998-present  Member of the American Society of Human Genetics

       1999-present  Member of the Endocrine Society of Thailand

       1999-present  Member of the Pediatric Endocrine Society of Thailand

       2000-present  Member of the Genetic Society of Thailand

       2001-present Member of the Thai Medical Genetics Association

      

       HONORS AND AWARDS:

       1984    Certificate of Academic Achievement for Highest Score in Mathematics from Triam Udom Suksa School, 100% 

       1986    Academic Honor Award  for Highest Grade Point Average of 1st Year Chulalongkorn University Medical Students  

                   Achievement Medal from Dr. Thab Foundation                

       1987    Academic Honor Award  for Highest Grade Point Average of 2nd Year Chulalongkorn University Medical Students

                   Academic Honor Award  for Highest Score in Biochemistry from Faculty of Medicine, Chulalongkorn University                

                   Academic Honor Award  for High Score and Best Participation in Physiology from Faculty of Medicine,

                   Chulalongkorn University             

       1988    Academic Honor Award  for Highest Score in Preventive Medicine from Faculty of Medicine, Chulalongkorn University 

       1989    Academic Honor Award  for Highest Score in  Obstetrics and Gynecology from Faculty of Medicine, Chulalongkorn University  

       1992    1st  Class Honors, Ranked 2nd among 150 Medical Students Graduating from Chulalongkorn University       

          1996      Pediatric Resident Research Award from the Faculty of Medicine, Chiang Mai University, Thailand.

          1998      Travel Award for Postdoctoral Fellows from the Society for Inherited Metabolic Disorders, USA.

          2002      Young Scientist Award from the Foundation for the Promotion of Science and Technology under the Patronage of

                          His Majesty the King.

          2004      Award for Best Research Work from Chulalongkorn University

          2006      Award for Best Research Work from Chulalongkorn University Distinguished Scientist Award from Chulalongkorn University

                         Award for Scientist with Research Work having Highest Citations from Chulalongkorn University

          Reviewers:

            1. American Journal of Medical Genetics

            2. European Journal of Human Genetics

            3. British Journal of Dermatology

            4. Human Genetics

            5. Head and Face Medicine

            6. Journal of Medical Association of Thailand

        Editorial Board:

      1. Asian Biomedicine

      2. Pediatrics Chulalongkorn Medical Journal

PUBLICATIONS INTERNATIONAL ARTICLES

 1. Vilaiphan P, Suphapeetiporn K, Phupong V, Shotelersuk V. An exceptionally low percentage of Thai expectant mothers    and medical personnel with folic acid knowledge and peri-conceptional consumption urges an urgent education program and/or food fortification. Int J Food Sci Nutr 2007;58(4):297-303.

2. Suphapeetiporn K, Tongkobpetch S, Mahayosnond A, Shotelersuk V. Expanding the phenotypic spectrum of Caffey  disease. Clin Genet 2007;71(3):280-4.

3. Phupong V, Praphanphoj V, Shotelersuk V. Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ                hybridization. Arch Gynecol Obstet 2007;275(4):237-40.

4. Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V. Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 2007;28(7):732-8.

5. Tongkobpetch S, Siriwan P, Shotelersuk V. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J Hum Genet 2006;51(8):671-6.

6. Tansatit M, Kongruttanachok N, Kongnak W, Arunpan S, Maneeshote P, Buasorn V, Praphanphoj V, Shotelersuk V. Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 --> 9pter and deletion of 9q34.3. Am J Med Genet A 2006;140(18):1981-7.

7. Suphapeetiporn K, Kongkam P, Tantivatana J, Sinthuwiwat T, Tongkobpetch S, Shotelersuk V. PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping. Jpn J Clin Oncol 2006.

8. Shotelersuk V, Siriwan P, Ausavarat S. A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. Cleft Palate Craniofac J 2006;43(2):152-4.

9. Shotelersuk V, Jaruratanasirikul S, Sinthuwiwat T, Janjindamai W. A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia. Genet Mol Biol 2006;29(4):617-620.

10. Phupong V, Shotelersuk V. Prenatal exclusion of Pompe disease by electron microscopy. Southeast Asian J Trop Med Public Health 2006;37(5):1021-4.

11. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Ohashi H, Kurosawa K, Naritomi K, Kaname T, Nagai T, Shotelersuk V, Hou JW, Fukushima Y, Kondoh T, Matsumoto T, Shinoki T, Kato M, Tonoki H, Nomura M, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet A 2006;140(3):291-3.

12. Leoyklang P, Siriwan P, Shotelersuk V. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet 2006;43(6):e28.

13. Katavetin P, Katavetin P, Wacharasindhu S, Shotelersuk V. A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling. Horm Res 2006;66(6):273-6.

14. Srichomthong C, Siriwan P, Shotelersuk V. Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 2005;42(7):e46.

15. Snabboon T, Plengpanich W, Siriwong S, Wisedopas N, Suwanwalaikorn S, Khovidhunkit W, Shotelersuk V. A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1. Jpn J Clin Oncol 2005;35(5):280-2.

16. Snabboon T, Plengpanich W, Shotelersuk V, Sirisalipoch S, Nonthasoot B, Sirichindakul B, Wisedopas N, Suwanwalaikorn S. A germline mutation in a Thai family with familial multiple endocrine neoplasia type 1. J Med Assoc Thai 2005;88(2):191-5.

17. Shotelersuk V, Tongkobpetch S. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hunermann-Happle syndrome. Clin Exp Dermatol 2005;30(4):419-21.

18. Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. Clin Exp Dermatol 2005;30(3):282-5.

19. Phupong V, Shuangshoti S, Sutthiruangwong P, Maneesri S, Nuayboonma P, Shotelersuk V. Prenatal diagnosis of Pompe disease by electron microscopy. Arch Gynecol Obstet 2005;271(3):259-61.

20. Wacharasindhu S, Shotelersuk V, Srivuthana S, Yodvisitsak W, Suwanwela N, Savage MO. Pallister-Hall syndrome with hypoparathyroidism. J Pediatr Endocrinol Metab 2004;17(5):801-3.

21. Shotelersuk V, Desudchit T, Tongkobpetch S. ASA E382K disrupts a potential exonic splicing enhancer and causes exon skipping, but missense mutations in ASA are not associated with ESEs. Int J Mol Med 2004;14(4):683-9.

22. Phupong V, Srichomthong C, Shotelersuk V. Prenatal exclusion of Crouzon syndrome by mutation analysis of FGFR2. Southeast Asian J Trop Med Public Health 2004;35(4):977-9.

23. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet A 2004;128(2):170-2.

24. Sunthornyothin S, Sinthuwiwat T, Shotelersuk V. A RET C634R mutation in a Thai female with multiple endocrine neoplasia type 2A. J Med Assoc Thai 2003;86 Suppl 2:S472-6.

25.  Shotelersuk V, Srichomthong C, Yoshiura K, Niikawa N. A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome. Int J Mol Med 2003;11(4):505-7.

26.  Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S. FGFR2 mutations among Thai children with Crouzon and Apert syndromes. J Craniofac Surg 2003;14(1):101-4; discussion 105-7.

27.  Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet 2003;40(5):e64.

28.  Shotelersuk V, Desudchit T, Suwanwela N. Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy. Am J Med Genet A 2003;116(2):164-9.

29.  Shotelersuk V. Molecular diagnosis of dysmorphic syndromes and inherited metabolic disorders in Thailand. J Med Assoc Thai 2003;86 Suppl 2:S129-34.

30. Chatchatee P, Srichomthong C, Chewatavorn A, Shotelersuk V. A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome. Int J Mol Med 2003;12(6):939-41.

31. Champattanachai V, Ketudat Cairns JR, Shotelersuk V, Keeratichamroen S, Sawangareetrakul P, Srisomsap C, Kaewpaluek V, Svasti J. Novel mutations in a Thai patient with methylmalonic acidemia. Mol Genet Metab 2003;79(4):300-2.

32. Tangnararatchakit K, Ariyaprakai W, Tapaneya-Olarn W, Shotelersuk V, Petchthong T. Cystinuria: cause of recurrent renal stones in a 4-year-old girl. J Med Assoc Thai 2002;85 Suppl 4:S1281-6.

33. Shotelersuk V, Shuangshoti S, Chotivitayatarakorn P, Chouwsrikul W, Wattanasirmkit V, Maneesri S, Nuayboonma P, Viratchai C, Suwangool P. Clinical, pathological, and electron microscopic findings in two Thai children with Pompe disease. J Med Assoc Thai 2002;85 Suppl 1:S271-9.

34. Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. Am J Med Genet 2002;110(4):384-90.

35. Shotelersuk V, Punyashthiti R. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. Int J Mol Med 2002;9(1):81-4.

36. Shotelersuk V, Ittiwut C, Srivuthana S, Mahatumarat C, Lerdlum S, Wacharasindhu S. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. Am J Med Genet 2002;113(1):4-8.

37. Shotelersuk V, Srivuthana S, Ittiwut C, Theamboonlers A, Mahatumarat C, Poovorawan Y. A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene. Southeast Asian J Trop Med Public Health 2001;32(2):425-8.

38. Shotelersuk V, Punyavoravud V, Phudhichareonrat S, Kukulprasong A. An Asian girl with a 'milder' form of the Hydrolethalus syndrome. Clin Dysmorphol 2001;10(1):51-5.

39. Shotelersuk V, Ittiwut C, Srivuthana S, Wacharasindhu S, Aroonparkmongkol S, Mutirangura A, Poovorawan Y. Clinical and molecular characteristics of Thai patients with achondroplasia. Southeast Asian J Trop Med Public Health 2001;32(2):429-33.

40. Shotelersuk V, Ittiwut C, Shotelersuk K, Triratanachat S, Poovorawan Y, Mutirangura A. Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas. Oncol Rep 2001;8(6):1301-4.

41. Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. CTNS mutations in African American patients with cystinosis. Mol Genet Metab 2001;74(3):332-7.

42. Wacharasindhu S, Srivuthana S, Aroonparkmongkol S, Shotelersuk V. A cost-benefit of gnRH stimulation test in diagnosis of central precocious puberty (CPP). J Med Assoc Thai 2000;83(9):1105-11.

43. Touchman JW, Anikster Y, Dietrich NL, Maduro VV, McDowell G, Shotelersuk V, Bouffard GG, Beckstrom-Sternberg SM, Gahl WA, Green ED. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res 2000;10(2):165-73.

44. Shotelersuk V, Tosukhowong P, Chotivitayatarakorn P, Pongpunlert W. A Thai boy with hereditary enzymopenic methemoglobinemia type II. J Med Assoc Thai 2000;83(11):1380-6.

45. Shotelersuk V, Srivuthana S, Wacharasindhu S, Dhamcharee V, Jaruratanasirikul S, Pangkanon S, Kaewpaluek V, Aroonparkmongkol S. Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand. Southeast Asian J Trop Med Public Health 2000;31(3):566-70.

46. Shotelersuk V, Dell'Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 2000;108(5):423-7.

47. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000;117(1):129-36.

48. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res 2000;47(1):17-23.

49. Shotelersuk V, Tifft CJ, Vacha S, Peters KF, Biesecker LG. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls. Am J Med Genet 1999;86(3):269-73.

50. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell 1999;3(1):11-21.

51. Anikster Y, Shotelersuk V, Gahl WA. CTNS mutations in patients with cystinosis. Hum Mutat 1999;14(6):454-8.

52. Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab 1999;66(2):111-6.

53. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA. CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet 1998;63(5):1352-62.

54. Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer MI, Kuehl E, Bernardini I, Gahl WA. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Genet Metab 1998;64(2):99-107.

55. Shotelersuk V, Gahl WA. Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab 1998;65(2):85-96.

56. Hazelwood S, Bernardini I, Shotelersuk V, Tangerman A, Guo J, Mudd H, Gahl WA. Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III. Am J Med Genet 1998;75(4):395-400.

57. Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 1998;338(18):1258-64.

58. Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet 1997;61(5):1088-94.