Jennifer S. Milhalovich and Edward T. Blake
Forensic Science Associates, 3053 Research Drive, Richmond, CA
Approximately six years ago a child from a New York family died with the symptoms of Familial Dysautonomia (FD), an inherited genetic disease. Uncertain knowledge that they carried lethal traits for an inherited disease prevented this couple from planning for additional children. That PCR based diagnostic tests now exist for genetic markers closely linked to the FD gene stimulated medical interest in obtaining a concrete DNA-based diagnosis and characterization of the defective trait in this family. The only biological specimens available from the deceased child were hairs from the child's hair brushes. After medical researchers were unsuccessful with these specimens, standard forensic procedures were employed to (1) obtain DNA from the hair, (2) demonstrate that the hair did not originate from living family members, (3) demonstrate that the hair DNA could originate from the parents progeny, and (4) provide guidance on the quantitative consumption of the unique DNA from the child during medical aspects of the investigation. Ultimately this work demonstrated the presence of FD disease alleles in the deceased child. This knowledge allowed for the development of an in utero FD disease assay. Ultimately the affected family conceived twins, one of which was allowed to develop to full term and was born healthy. This case illustrates the proposition that forensic science, like all science, is a problem solving discipline that shares the common tools of the scientific community.
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