January 26th, 2017 | Written by Elizabeth Stein, Philanthropy & Communications Specialist
In a new clinical study published in The Journal of Clinical Endocrinology & Metabolism, The Feingold Center for Children’s own staff members, Dr. Catherine Bearce Nowak and Jessica Douglas, worked with colleagues all around the nation to discover results of a mutation in the gene, ACAN.
The work began as Dr. Nowak, Clinical Director at the Feingold Center for Children and member of the Board of Directors here at The Genesis Foundation for Children, started supporting a patient at The Feingold Center.
This patient (name anonymous for privacy) came to the genetics department because he is “very small for his age,” according to Douglas, who is a genetic counselor at the Feingold Center and who has been practicing in the field of genetic counseling since 2004. “Upon review of this information, it was discovered that there were other short/small individuals in his family.”
Dr. Nowak collaborated with Andrew Dauber, MD, from the Division of Endocrinology at Cincinnati Children’s Hospital Medical Center, who is the lead investigator.
Through this study, other children and families with similar stories around the nation were identified, and Dr. Dauber’s lab was able to discover that all of the individuals highlighted in the journal had one thing in common: mutations in the gene ACAN.
ACAN stands for the Aggrecan gene, which affects bone development and enables cartilage to protect bones and joints, according to the National Institute of Health Genetics Home Reference.
“By reviewing the clinical information of our patient as well as the others,” said Douglas, “it was determined that the gene ACAN, when not working properly, causes short stature with early-onset osteoarthritis.”
Dr. Nowak, Dr. Dauber, and the Feingold Center patient’s endocrinologist all worked together throughout the study.
“We now know what to expect clinically for this patient and his other family members,” said Douglas. “We were also able to inform this child’s parents about the recurrence risk for this condition to be present in any future children.”
Information from 103 individuals, which included 57 females and 46 males, from 20 families were included in the study, which was first published online November 21, 2016.
About Catherine Bearce Nowak, MD
Dr. Catherine Bearce Nowak is the Clinical Director of The Feingold Center at Children’s Hospital Boston – Waltham, MA and Assistant Professor of Pediatrics at Harvard Medical School. Dr. Nowak received her medical degree from McGill University. Following her pediatric internship and residency at University of Massachusetts Medical Center, she completed a fellowship in Clinical Genetics and Birth Defects at The Franciscan Children’s Hospital with Dr. Feingold. She was a Clinical Geneticist at The National Birth Defects Center for several years and then went on to become the Chief of the Genetics Division at UMASS Memorial Medical Center in Worcester, MA. She returned to The Feingold Center for Children in 2006. Dr. Nowak is Board Certified in both Pediatrics and Clinical Genetics.
About Jessica Douglas, MS, CGC
Ms. Jessica Douglas has a Masters in Genetic Counseling from Brandeis University. She is board certified by the American Board of Genetic Counselors. She has twelve years of experience in the field of genetics and has been practicing in the field of genetic counseling since 2004. Ms. Douglas is available to help patients and their families with their genetic questions and help facilitate testing and support. She provides genetic counseling to adults regarding personal and family medical histories as well as pre-conceptual and pre-natal concerns. Ms. Douglas has a special interest in adult cancer genetics.