There are hundreds of birth disorders, and the number of kids and families affected grow every year. Many families also face the difficult problem of dealing with disorders that can’t be identified, or sometimes even misdiagnosed. That’s where Dr. Kenneth Lyons Jones comes in.
Dr. Jones is preceded by his reputation in the field of dysmorphology—the study of birth defects. His book, Smith’s Recognizable Patterns of Human Malformation, is the handbook used by health care professionals to identify disorders in patients. He is also the one called in to diagnose disorders when nobody else can.
“I just spend a lot of time doing it. I’ve been doing this since 1972. It’s been a long time, so with time and experience, you gain new insight,” Dr. Jones said.
Speaking via phone from Riverside, California, Dr. Jones was conducting a study on the rare disorder, Kabuki syndrome. He was at the home of a family with a child diagnosed with the condition.
Also known as Kabuki makeup syndrome, the disorder got its name because patients diagnosed have features resembling the makeup of actors in Japanese Kabuki theater. Patients often exhibit a drooping of the upper eye lid, short fingers, and other issues including intellectual disability. Kabuki syndrome affects one in every 32,000 births.
“We, as well as some other people around the world, are trying to identify the gene that leads to this condition,” Dr. Jones said. “Up until now it has been something that nobody has been able to figure out.”
According to Dr. Jones, he and his assistant are drawing blood from three or four families who have a child with the condition. They will then study the samples and try to find out what gene the child has that the others in the family don’t have.
“Hopefully by identifying that gene, [we will] understand more about the way that this altered gene has led to the problems that these kids have,” Dr. Jones said.
He adds that there are hundreds of genetic conditions that can cause the problems seen in Kabuki syndrome, and for most of them “we have not yet identified the altered gene.”
One thing is changing, however. New forms of technology are allowing for research in areas which were previously difficult, if not impossible to study before. In addition to technology for studying genes, noninvasive gadgets for brain research are also moving things forward in the field of studying disorders.
“So the technology is obviously changing very rapidly at this point, and that new technology is providing us the opportunity to start looking at many of these disorders that previously have defied many explanations and understanding,” he said.
Dr. Jones has done quite a bit of work in the field. He and Dr. David Smith are the ones who identified fetal alcohol syndrome (FAS)—an award-winning discovery which has led to public education on birth defects caused by women drinking alcohol during pregnancy.
The California Teratogen Information Service that Dr. Jones established in 1979 has also helped an untold number of physicians and pregnant women know the risks of birth defects from drugs, chemicals, and other substances.
According to Dr. Jones, he was inspired to enter the field of dysmorphology after he met Dr. Smith while training at the University of Washington in Seattle. “I just thought the kind of work he did was fantastic, and I wanted to sort of be like him. That’s what got me into this to start with,” he said.
“Then as I learned more and more about it, I really enjoy doing this myself,” Dr. Jones said. “Doing this kind of work is exciting and stimulating from both an intellectual and academic standpoint, and it is equally from the personal standpoint...that I can hopefully help these kids as time goes on.”
Dr. Jones is preceded by his reputation in the field of dysmorphology—the study of birth defects. His book, Smith’s Recognizable Patterns of Human Malformation, is the handbook used by health care professionals to identify disorders in patients. He is also the one called in to diagnose disorders when nobody else can.
“I just spend a lot of time doing it. I’ve been doing this since 1972. It’s been a long time, so with time and experience, you gain new insight,” Dr. Jones said.
Speaking via phone from Riverside, California, Dr. Jones was conducting a study on the rare disorder, Kabuki syndrome. He was at the home of a family with a child diagnosed with the condition.
Also known as Kabuki makeup syndrome, the disorder got its name because patients diagnosed have features resembling the makeup of actors in Japanese Kabuki theater. Patients often exhibit a drooping of the upper eye lid, short fingers, and other issues including intellectual disability. Kabuki syndrome affects one in every 32,000 births.
“We, as well as some other people around the world, are trying to identify the gene that leads to this condition,” Dr. Jones said. “Up until now it has been something that nobody has been able to figure out.”
According to Dr. Jones, he and his assistant are drawing blood from three or four families who have a child with the condition. They will then study the samples and try to find out what gene the child has that the others in the family don’t have.
“Hopefully by identifying that gene, [we will] understand more about the way that this altered gene has led to the problems that these kids have,” Dr. Jones said.
He adds that there are hundreds of genetic conditions that can cause the problems seen in Kabuki syndrome, and for most of them “we have not yet identified the altered gene.”
One thing is changing, however. New forms of technology are allowing for research in areas which were previously difficult, if not impossible to study before. In addition to technology for studying genes, noninvasive gadgets for brain research are also moving things forward in the field of studying disorders.
“So the technology is obviously changing very rapidly at this point, and that new technology is providing us the opportunity to start looking at many of these disorders that previously have defied many explanations and understanding,” he said.
Dr. Jones has done quite a bit of work in the field. He and Dr. David Smith are the ones who identified fetal alcohol syndrome (FAS)—an award-winning discovery which has led to public education on birth defects caused by women drinking alcohol during pregnancy.
The California Teratogen Information Service that Dr. Jones established in 1979 has also helped an untold number of physicians and pregnant women know the risks of birth defects from drugs, chemicals, and other substances.
According to Dr. Jones, he was inspired to enter the field of dysmorphology after he met Dr. Smith while training at the University of Washington in Seattle. “I just thought the kind of work he did was fantastic, and I wanted to sort of be like him. That’s what got me into this to start with,” he said.
“Then as I learned more and more about it, I really enjoy doing this myself,” Dr. Jones said. “Doing this kind of work is exciting and stimulating from both an intellectual and academic standpoint, and it is equally from the personal standpoint...that I can hopefully help these kids as time goes on.”
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