Chanika Phornphutkul, M.D., has been named division director of the Division of Human Genetics at Hasbro Children's Hospital. In her role, Phornphutkul will lead the hospital's Genetic Counseling Center.
"After a full review of an international panel of candidates, we discovered we had an exceptional internal candidate. Dr. Phornphutkul has a deep understanding of our hospital community and possesses the knowledge, determination and passion to advance our genetics program to meet the growing needs of children both locally and nationwide with rare genetic disorders," said Robert B. Klein, M.D., pediatrician-in-chief at Hasbro Children's Hospital.
Phornphutkul first joined Hasbro Children's Hospital in 1999 as a pediatric endocrinologist. In 2002, she took on a role as a biochemical geneticist and director of the hospital's metabolic clinic since 2002.
As the leader of the Genetic Counseling Center, Phornphutkul will oversee the treatment patients of all ages, from newborns to teenagers as well as adults. Newborn children are referred because of suspected birth defects, abnormal newborn screening, genetic disorders, congenital malformations and/or dysmorphic features. Older children are treated for the same issues, as well as for developmental delay or learning disability.
The Center also offers genetic counseling and carrier testing for people with family histories of genetic conditions, such as cystic fibrosis and Duchenne muscular dystrophy. Evaluation, counseling and testing are also available for hereditary cancer syndromes, such as hereditary breast and ovarian cancer (HBOC), familial polyposis (FAP), and hereditary nonpolyposis colon cancer (HNPCC), as well as other disorders like Huntington's disease.
Since 2002, Phornphutkul has served on the Rhode Island Department of Health Newborn Screening Advisory Committee, as well as its Genetics Advisory Committee. She also currently takes part in the New England Genetics Collaborative Advisory Council. Phornphutkul's efforts with each of these groups are to screen every newborn child for several genetic conditions. If discovered early, serious problems, including mental retardation and death, can be prevented.
"Many childhood disorders have an inherited or genetic cause," said Phornphutkul. "With the growing knowledge in genetics, we can provide families with the best knowledge and treatment. Newborn screening has been a major tool of identifying patients at the earliest stage and allows us to treat our young patients from the very beginning of their lives, and learn together how to better manage their health and provide answers to families."
As the author of more than 20 scientific journal articles, Phornphutkul has been invited to lecture on a variety of genetics topics, both locally and nationally, and has led multiple Grand Rounds presentations to share her expertise in Genetics and endocrinology with the pediatrics community. She has made more than 30 presentations at pediatrics, endocrine and genetics meetings and conferences across the country.
Phornphutkul received her undergraduate and doctor of medicine degrees from Chiangmai University in Thailand. She completed residencies in pediatrics at both C.S. Mott Children's Hospital in Ann Arbor, Mich., and Hasbro Children's Hospital. She also completed a fellowship in the division of pediatric endocrinology and metabolism at Hasbro Children's Hospital and a fellowship in clinical biochemical genetics at the National Human Genome Research Institute of the National Institutes of Health in Bethesda, Md.