Dr. Chanika Phornphutkul is Chief of the Division of Human Genetics and Director of Genetics and Metabolism Clinic at Rhode Island/Hasbro Children's Hospital. She completed Pediatric residency and Pedaitric Endocrinology Fellowship at Hasbro Children's Hospital, Brown University and Clinical Biochemical Genetics fellowship at NHGRI, NIH
She is the member of Newborn Screening Task Force, advising RI Department of Health. She is also site principal investigator for several clinical trials for rare disorders at Rhode Island Hospital. She joined the faculty in 2002 as Assistant Professor of Pediatrics. She graduated from Chiangmai University School of Medicine, Thailand.
| Xu Y, Gray A, Hardie DG, Uzun A, Shaw S, Padbury JF, Phornphutkul C, Tseng YT. "A novel, de novo mutation in the <i>PRKAG2</i> gene: infantile-onset phenotype and the signaling pathway involved." American Journal of Physiology - Heart and Circulatory Physiology, vol. 313, no. 2, 2017, pp. H283-H292. |
| Torok, Rachel D., Austin, Stephanie L., Phornphutkul, Chanika, Rotondo, Kathleen M., Bali, Deeksha, Tatum, Gregory H., Wechsler, Stephanie B., Buckley, Anne F., Kishnani, Priya S. "PRKAG2 mutations presenting in infancy." Journal of Inherited Metabolic Disease, vol. 40, no. 6, 2017, pp. 823-830. |
| Quintos JB, Hodax JK, Gonzales-Ellis BA, Phornphutkul C, Wajnrajch MP, Boney CM. "Response to Growth hormone deficiency in mitochondrial disorders." Journal of Pediatric Endocrinology and Metabolism, vol. 30, no. 4, 2017, pp. 483-484. |
| Kostadinov, Stefan, Shah, Birju A., Alroy, Joseph, Phornphutkul, Chanika. "A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene: Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination." Pediatric and Developmental Pathology, vol. 17, no. 6, 2014, pp. 474-477. |
| Pescosolido, Matthew F, Schwede, Matthew, Johnson Harrison, Ashley, Schmidt, Michael, Gamsiz, Ece D, Chen, Wendy S, Donahue, John P, Shur, Natasha, Jerskey, Beth A, Phornphutkul, Chanika, Morrow, Eric M. "Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein." Journal of Medical Genetics, vol. 51, no. 9, 2014, pp. 587-9. |
| Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. "Newborn Screening for Glutaric Aciduria-II: The New England Experience." JIMD Reports, vol. 13, 2014, pp. 1-14. |
| Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. "The emerging phenotype of long-term survivors with infantile Pompe disease." Genet Med, vol. 14, no. 9, 2012, pp. 800-10. |
| Woo HC, Lizarda A, Tucker R, Mitchell ML, Vohr B, Oh W, Phornphutkul C. "Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes." The Journal of Pediatrics, vol. 158, no. 4, 2011, pp. 538-42. |
| Sittiwangkul R, Pongprot Y, Silvilairat S, Phornphutkul C. "Delayed diagnosis of Kawasaki disease: risk factors and outcome of treatment." Annals of tropical paediatrics, vol. 31, no. 2, 2011, pp. 109-14. |
| Beck NM, Johnston JP, Lemke KS, Pogacar P, Phornphutkul C. "Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA)." Medicine and health, Rhode Island, vol. 94, no. 5, 2011, pp. 121-3. |
| Woo HC, Phornphutkul C, Laptook AR. "Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia." Journal of perinatology : official journal of the California Perinatal Association, vol. 30, no. 4, 2010, pp. 295-7. |
| Bourjeily G, Chalhoub M, Phornphutkul C, Alleyne TC, Woodfield CA, Chen KK. "Neonatal thyroid function: effect of a single exposure to iodinated contrast medium in utero." Radiology, vol. 256, no. 3, 2010, pp. 744-50. |
| Temu TM, Wu KY, Gruppuso PA, Phornphutkul C. "The mechanism of ascorbic acid-induced differentiation of ATDC5 chondrogenic cells." AJP: Endocrinology and Metabolism, vol. 299, no. 2, 2010, pp. E325-34. |
| Phornphutkul C, Gruppuso PA. "Disorders of the growth plate." Current opinion in endocrinology, diabetes, and obesity, vol. 16, no. 6, 2009, pp. 430-4. |
| Kim MS, Wu KY, Auyeung V, Chen Q, Gruppuso PA, Phornphutkul C. "Leucine restriction inhibits chondrocyte proliferation and differentiation through mechanisms both dependent and independent of mTOR signaling." AJP: Endocrinology and Metabolism, vol. 296, no. 6, 2009, pp. E1374-E1382. |
| Phornphutkul C, Lee M, Voigt C, Wu KY, Ehrlich MG, Gruppuso PA, Chen Q. "The effect of rapamycin on bone growth in rabbits." Journal of Orthopaedic Research, vol. 27, no. 9, 2009, pp. 1157-61. |
| Phornphutkul C, Wu KY, Auyeung V, Chen Q, Gruppuso PA. "mTOR signaling contributes to chondrocyte differentiation." Developmental dynamics : an official publication of the American Association of Anatomists, vol. 237, no. 3, 2008, pp. 702-12. |
| Sanders JA, Lakhani A, Phornphutkul C, Wu KY, Gruppuso PA. "The effect of rapamycin on DNA synthesis in multiple tissues from late gestation fetal and postnatal rats." AJP: Cell Physiology, vol. 295, no. 2, 2008, pp. C406-13. |
| Phornphutkul C, Wu KY, Gruppuso PA. "The role of insulin in chondrogenesis." Molecular and cellular endocrinology, vol. 249, no. 1-2, 2006, pp. 107-15. |
| Phornphutkul, C. "Insulin-like growth factor-I signaling is modified during chondrocyte differentiation." The Journal of endocrinology, vol. 183, no. 3, 2004, pp. 477-486. |
| Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA. "Long-term follow-up of well-treated nephropathic cystinosis patients." The Journal of Pediatrics, vol. 145, no. 4, 2004, pp. 555-60. |
| Suwannarat P, Phornphutkul C, Bernardini I, Turner M, Gahl WA. "Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain." Arthritis and rheumatism, vol. 50, no. 11, 2004, pp. 3698-701. |
| Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR. "Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy." Diabetes, vol. 53, no. 10, 2004, pp. 2713-8. |
| Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. "Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation." Molecular genetics and metabolism, vol. 77, no. 1-2, 2002, pp. 136-42. |
| Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. "Natural history of alkaptonuria." New England Journal of Medicine, vol. 347, no. 26, 2002, pp. 2111-21. |
| Falik-Zaccai TC, Anikster Y, Rivera CE, Horne MK 3rd, Schliamser L, Phornphutkul C, Attias D, Hyman T, White JG, Gahl WA. "A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics." Molecular genetics and metabolism, vol. 74, no. 3, 2001, pp. 303-13. |
| Phornphutkul C, Okubo T, Wu K, Harel Z, Tracy TF Jr, Pinar H, Chen S, Gruppuso PA, Goodwin G. "Aromatase p450 expression in a feminizing adrenal adenoma presenting as isosexual precocious puberty." The Journal of Clinical Endocrinology & Metabolism, vol. 86, no. 2, 2001, pp. 649-52. |
| Phornphutkul C, Anikster Y, Huizing M, Braun P, Brodie C, Chou JY, Gahl WA. "The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region." The American Journal of Human Genetics, vol. 69, no. 4, 2001, pp. 712-21. |
| Pruksakorn S, Sittisombut N, Phornphutkul C, Pruksachatkunakorn C, Good MF, Brandt E. "Epidemiological analysis of non-M-typeable group A Streptococcus isolates from a Thai population in northern Thailand." Journal of clinical microbiology, vol. 38, no. 3, 2000, pp. 1250-4. |
| Phornphutkul C, Fausto-Sterling A, Gruppuso PA. "Gender self-reassignment in an XY adolescent female born with ambiguous genitalia." Pediatrics, vol. 106, no. 1 Pt 1, 2000, pp. 135-7. |
| Phornphutkul C, Frick GP, Goodman HM, Berry SA, Gruppuso PA. "Hepatic growth hormone signaling in the late gestation fetal rat." Endocrinology, vol. 141, no. 10, 2000, pp. 3527-33. |
| Phornphutkul C, Boney CM, Gruppuso PA. "A novel presentation of Addison disease: hypoglycemia unawareness in an adolescent with insulin-dependent diabetes mellitus." The Journal of Pediatrics, vol. 132, no. 5, 1998, pp. 882-4. |
| Pruksakorn S, Currie B, Brandt E, Phornphutkul C, Hunsakunachai S, Manmontri A, Robinson JH, Kehoe MA, Galbraith A, Good MF. "Identification of T cell autoepitopes that cross-react with the C-terminal segment of the M protein of group A streptococci." International immunology, vol. 6, no. 8, 1994, pp. 1235-44. |
| Pruksakorn S, Currie B, Brandt E, Martin D, Galbraith A, Phornphutkul C, Hunsakunachai S, Manmontri A, Good MF. "Towards a vaccine for rheumatic fever: identification of a conserved target epitope on M protein of group A streptococci." The Lancet, vol. 344, no. 8923, 1994, pp. 639-42. |
| Rangdaeng S, Scollard DM, Srichairatanakol S, Sutthachit M, Phornphutkul C. "Glycogen storage disease type II (Pompe's disease): the first biochemical evidence in Thailand." Journal of the Medical Association of Thailand = Chotmaihet thangphaet, vol. 70, no. 9, 1987, pp. 536-42. |
| Phornphutkul C, Rosenthal A, Nadas AS. "Cardiac manifestations of Marfan syndrome in infancy and childhood." Circulation, vol. 47, no. 3, 1973, pp. 587-96. |
| Year | Degree | Institution |
|---|---|---|
| 1992 | MD | Chiang Mai University |
| Fellow | National Human Genome Research Institute, National Institutes of Health, clinical biochemical genetics | 2000-2002 | Bethesda, MD |
| Fellow | Brown University, Hasbro Children's Hospital, pediatric endocrinology and metabolism | 1996-1999 | Providence, RI |
| Resident | Brown University, Hasbro Children's Hospital, Pediatrics | 1995-1996 | Providence, RI |
| Intern; Resident | University of Michigan, C.S. Mott Children's Hospital, Pediatrics | 1993-1995 | Ann Arbor, MI |
| Intern | Chiangmai University School of Medicine, Pediatrics | 1992-1993 | Chiangmai, Thailand |
M.D. High Honor March 1992
Fellow Travel Award,
Society for Inherited Metabolic Disorders March 2001
Visiting Professor
Thai-American Physician Foundation November 2006
Dean’s Teaching Excellence Award, BIOL 3650 IMS II June, 2008
Certificate of recognition, BIOL 3654 IMS II June, 2009
Rhode Island Newborn Screening Program, Outstanding Achievement Award 2010
Certificate of recognition, BIOL 3654 IMS II June, 2011, 2012
Dean’s Teaching Excellence Award, BOIL 3654 IMS II June 2013
Brite Lite Nominee 2016
Department of Pediatrics Clinical Champion Award 2017
Dean’s Teaching Excellence Award, BIOL 3642 IMS I June, 2017
Certificate of recognition, BIOL 3654 IMS II July, 2017
Certificate of recognition, BIOL 3642 IMS I July, 2017
| Name | Title |
|---|---|
| Moreno De Luca, Daniel | Assistant Professor of Psychiatry and Human Behavior |
| Morrow, Eric | Mencoff Family Professor of Biology, Professor of Brain Science, Professor of Neuroscience, Professor of Psychiatry and Human Behavior |
| Padbury, James | William and Mary Oh - William and Elsa Zopfi Professor of Pediatrics for Perinatal Research |
| Tseng, Yi-Tang | Associate Professor of Pediatrics (Research) |
American Society of Human Genetics (ASHG)
Society for Pediatric Research (SPR)
Society of Inherited Metabolic Disorders (SIMD)
Pediatric Endocrine Society (PES)
| Certification | American Board of Pediatrics, General pediatrics | 2003- | |
| Certification | American Board of Medical Genetics, Clinical biochemical genetics | 2002- | |
| Certification | American Board of Pediatrics, Pediatric endocrinology | 2001- | |
| Medical License | Rhode Island | 2000- | |
| Medical License | Maryland | 2000-2002 |
| Director. Hasbro Children's Hospital, 2011- |
| Biochemical Geneticist and Pediatric Endocrinologist; Director of Metabolic Clinic. Hasbro Children's Hospital, 2002- |
| Pediatric Endocrinologist. Hasbro Children's Hospital, 1999-2000 |
Biomed #130, Biochemistry, The Warren Alpert Medical School of Brown University (small group leader) 2002-2003, 8 small group sessions, 16 hours.
BIOL 3650 IMS II: Endocrine Science. The Warren Alpert Medical School of Brown University (lecture and small group leader) 2006, 1 hour lecture, 8 small group sessions, 16 hours.
BIOL 3654 IMS II: Endocrine Science. The Warren Alpert Medical School of Brown University (lecture and small group leader) 2007-present, 1 hour lecture, 8 small group sessions, 16 hours..
Graduate program in pathobiology, committee member: Tecla Temu MD/PhD student. August 2009- September 2010.
Graduate program in pathobiology, committee member: Chat Jayasuriya PhD candidate. February 2010-2013.
PLME 1000: October 2012 Breast Cancer and Genetic Testing.
BOIL6512: Modern Genetics: Ethics, Policy and the Doctor-Patient Relationship
BIOL3642: Scientific Foundation of Medicine. 2012-present, 6 hours.
BIOL3642: Small group leader 2016- present (4 hours)
