Scientists and historians believe that Treacher Collins syndrome, also known as Mandibulofacial Dysostasis, was long misunderstood by civilizations as far back as ancient times. Written examples of the history of Treacher Collins syndrome have been identified in the works of philosophers and medical practitioners from as far back as Ancient Rome. It wasn’t until the 1800s that research into the conditions and reasons for the genetic disorder were fully conducted. Although links between the disease and hereditary were explored prior to this time, the work of Dr. Edward Treacher Collins was responsible for medical breakthroughs that brought a new understanding of the disease.
Edward Treacher Collins
Edward Treacher Collins is the famous ophthalmologist widely known for his research into the disease that ultimately took his name. His research single-handedly changed the history of Treacher Collins syndrome, giving the medical world the principles that helped science understand the full dynamics of the genetic disorder.
Born in 1862, Collins was the son of a London physician. Growing up in a Huguenot family with strong ties to his older brother, a reputable ophthalmologist of the era, he decided to follow in his footsteps and also pursue a career in the field. After attending University College, he finished his education at Middlesex Hospital where he was first exposed to the disorder Mandibulofacial Dysostasis. In 1884, he began an internship at the Royal London Ophthalmic Hospital, a position which turned into a career that lasted 48 years.
During his tenure at the hospital, Collins was primarily positioned as the pathologist and curator of the facilities museum. Amongst the collection of the hospital were numerous skulls that belonged to people who had suffered from Treacher Collins syndrome. Collins himself became highly interested in the disorder and began researching its prevalence through certain family’s histories. He also identified the different types of problems that children born with the disease faced after birth. Among the most intense research conducted by the physician were problems with the eyes, particularly the fact that many children born with the disease lacked lower eyelids or eyelashes.
Collins became very famous during his career for lectures dealing with the subject. In 1896, he published a book called Researches into the Anatomy and Pathology of the Eye. The success of the research helped hundreds of other scientists around the world identify Treacher Collins syndrome as not simply a random occurrence with mutations of the skull, but a specific disease that afflicted certain family lines.
Modern History of Treacher Collins
Further research into the hereditary and genetic history of Treacher Collins syndrome continued dramatically in the 20th century. A greater understanding of its causes and symptoms was the primary method of study for the majority of the century. In 1977, a New York Times article by Donald G. McNeil, Jr. brought the disorder to public awareness. The article was reprinted around the country, focusing on people with the disease and advances made in understanding how it was passed from parent to child.
The modern understanding of the genetic connections of Treacher Collins syndrome was identified in the late 1990s as part of the Human Genome Project. Scientists now fully understood how the dominant gene was transferred to children and what mutations were prevalent on chromosome 5. It was also found that some children were spontaneously afflicted with the disorder through new mutations as well.
During the first decade of the 2000s, Treacher Collins syndrome became the focus of numerous television specials and dramatic shows. Notable examples include a 2005 Discovery Channel documentary called Unmasked: Treacher Collins Syndrome, a 2006 episode of Nip/Tuck and a 2010 TLC special about a child born with one of the most dramatic cases in the history of Treacher Collins syndrome.
“Edward Treacher Collins” mrcopth.com: https://www.mrcophth.com/ophthalmologyhalloffame/treachercollins.html
“Treacher Collins Syndrome” World Craniofacial Foundation: https://www.worldcf.org/medical-info/craniofacial-resources/treacher-collins-syndrome/
Edward Treacher Collins. (Supplied by My Multiple Sclerosis.com; Public Domain; https://www.mymultiplesclerosis.co.uk/misc/treachercollins.html)
This post is part of the series: The Genetics of Treacher Collins Syndrome
Treacher Collins syndrome, also known as Mandibulofacial Dysostosis, is caused by mutations in the TCOF1 gene. This gene impacts the treacle protein, which impacts the development of craniofacial features such as the ears, eyes, mouth and bone structure.