Eight-year-old Emma Broadbent of Dallas, Texas, lives with an ultra-rare disorder that has caused severe delays in brain development, led to hundreds of days in the hospital, and left her functioning as a 3- to 5-month-old.
- By LEAH EISENSTADT | Broad Institute
For years, her parents struggled to obtain an accurate genetic diagnosis. They knew doing so would help them get the condition formally recognized as a new disease, find other people like Emma, and better advocate for research into new treatments.
The DNA change underlying Emma's disorder has now been revealed, thanks to years of work by an international team co-led by Harvard Medical School physician-scientists.
The team reported Oct. 23 in the New England Journal of Medicine that Emma and two other children from unrelated families in France each lack a chunk of DNA in one copy of a gene called CHASERR.
"With three patients, we were able to finally classify this as a new disorder," said co-senior author Anne O'Donnell-Luria, co-director of the Center for Mendelian Genomics at the Broad Institute of Harvard and MIT, assistant professor of pediatrics at HMS, and clinical genetics physician at Boston Children's Hospital.
