Mira Irons, MD
Associate Chief, Division of Genetics
Director, Neurofibromatosis Program
|Academic Title||Associate Professor of Pediatrics|
300 Longwood Avenue
Boston, MA 02115
The main focus of our research is to develop treatments for children with two different genetic conditions, Smith-Lemli-Opitz syndrome, and Neurofibromatosis and related disorders.
Smith-Lemli-Opitz (SLO) syndrome. SLOS is a rare inborn error of cholesterol metabolism that results in reduced growth, developmental delay, intellectual disability and physical abnormalities. Since discovering this inborn error of metabolism, we have developed a cholesterol-based treatment strategy that has led to improvements in growth and development of children with SLOS and which is now considered standard therapy for this condition. We have also studied genotype-phenotype correlations in these patients in hopes of individualizing treatment.
Neurofibromatosis-1 (NF1). NF1 is a common genetic condition that is usually first recognized by the presence of multiple "cafe au lait" spots on the skin, and that often results in the formation of benign tumors in the nervous system in addition to possible problems, including skeletal abnormalities, learning problems, and abnormalities of growth. Our current areas of study include:
Bone fractures: Preliminary studies indicate that children with NF1 have low bone densities and may break their bones more easily. In a study soon to be launched at Children's Hospital Boston, we will measure bone metabolites and bone density in an attempt to track down the reasons behind these alterations in bone density, and potentially develop a treatment strategy to address this.
- Genotype-phenotype correlations: NF1 is an extremely variable disease. By studying many NF1 patients, we hope to better predict the outcome of NF1 patients and better manage the disease.
To read more about our Neurofibromatosis Program, visit our website.
About Mira Irons
Mira Irons is Associate Chief and the Chief of Clinical Programs in the Division of Genetics at Children's Hospital Boston. She is Director of the Neurofibromatosis Program at Children's, and of the Genetics Residency Program and Genetics Fellowship training programs at Harvard Medical School. She has a busy clinical practice and also sees patients in her general Genetics clinic, both at the Longwood campus and at the South Shore satellite office.
Irons received her MD from Northwestern University Medical School. She then completed a residency in pediatrics at Children's Memorial Hospital in Chicago. In 1983, she came to Boston to complete a genetics fellowship in the Harvard Medical School Genetics Training Program. After completing her genetics training in 1986, she worked in the Division of Genetics at Tufts University School of Medicine. She joined the faculty at Children's Hospital Boston in 1998 and is also an Associate Professor of Pediatrics at Harvard Medical School.
Messiaen L et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 2009 Nov 18; 302(19):2111-8.
Caruso PA et al. MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology 2004 Jan; 46(1):3-14.
Irons M et al. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. Am J Med Genet 1997 Jan 31; 68(3):311-4.
Irons M et al. Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 1994 May 1; 50(4):347-52.
- Tint GS et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 1994 Jan 13; 330(2):107-13.
To see a complete list of publications in PubMed, click here.