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Daughter’s Chromosome 18 Disorder Led to Major Research Accomplishments For UTHSCSA Scientist
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Daughter’s Chromosome 18 Disorder Led to Major Research Accomplishments For UTHSCSA Scientist

May 14th, 2015 Leonor Mateus Ferreira 0 comments

Jannine Cody was a military wife and new mother in 1985, when the doctors gave her the news that her baby, Elizabeth, suffered from 18q-, a rare abnormality in chromosome 18. There was a great lack of information on the condition at that time, and according to the research she found, it looked like her daughter would face a series of medical problems, including severe cognitive impairments that would condemn her to live bedridden. However, Cody, a current professor of pediatrics at The University of Texas Health Science Center (UTHSC) at San Antonio decided to do something about it.

Unwilling to accept the apparent sentence given to her daughter or the lack of research on the 18q- syndrome, Cody became engaged in fight the disease by shifting her career into a new research focus. In addition, in 1990 she founded a support group for families suffering with the burden of the disease, called Chromosome 18 Registry & Research Society, that is celebrating its 25th anniversary this current year.

“There are no words to describe the depths to which such words can rock the soul of a new parent,” told Cody on an interview to Rosanne Fohn at the website of the facility. “Did Elizabeth really have all of these problems? Would she really turn out this way? Had Elizabeth been born two decades earlier, we would most certainly have been advised to place her in an institution and go on with our lives.”Jannine Cody

“It became clear to me that the only way to get the research going was to be involved myself. I already had a biology degree, so in 1991 I enrolled in the graduate school at the UT Health Science Center to study cellular and structural biology,” she said. In 1997, Cody finished her PhD and she now directs the School of Medicine’s Chromosome 18 Clinical Research Center, which is financially supported by the Chromosome 18 Registry & Research Society.

The center works in collaboration with the support group focused to improve knowledge on the chromosome 18 disorder, as well as improve quality of life of patients who suffer from it, while the society organize a family meeting every year and periodic meetings in Australia and Europe. With help from its medical director and pediatrics professor Daniel Hale, MD, the Chromosome 18 Clinical Research Center believes it’s able to create the first treatments for chromosome-associated abnormalities.

“When we started, knowledge was limited,” explained Cody said. “It was known that people with chromosome 18 disorders were short, cognitively impaired and unable to control their bodies. Now we know they are short because they have growth-hormone deficiency, which is treatable. Their IQs can range from very low to normal. We have learned that growth-hormone treatment improves not only their IQ but their muscle tone, as well, so they can better control their bodies and move more like everyone else.”

“Many of those affected by chromosome 18 disorders are hearing impaired, which again is something that is treatable through surgery, hearing aids and deaf education. Many also suffer from anxiety and depression, which is treatable and improves their ability to learn and live life more normally. As we begin to identify the key genes involved with chromosome 18 abnormalities, we are gaining an understanding of the biological underpinnings of the condition which will create additional treatment insights,” she added.

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The center includes a multidisciplinary team of clinical, lab and office professionals, as well as 17 UT collaborative investigators. Their main purpose is to find and disseminate comprehensive medical and educational information on the disorders. “Because chromosome 18 abnormalities are rare and seem to be different for each individual, we want to better understand the genetic origin of each person’s issues, such as speech difficulties or hearing loss, so that we can develop genetically informed treatments aimed at those deficiencies,” stated the professor.

The work done by Jannine Cody has helped numerous families, including her own. Elizabeth is now 30 years old and was able to overcome her problems of speech, hearing and language with deaf education and speech therapy, while she underwent almost 20 surgeries to treat cleft lip and palate. “She is leading a full and rewarding life,” said Cody. “She is taking classes at a local community college and is working as a volunteer administrator in the Chromosome 18 Registry office.”

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Leonor Mateus Ferreira

Leonor Mateus Ferreira is an emerging, young journalist, with a Bachelor's degree in Communication and post-graduate degree in Multiplatform Journalism. She is particularly interested in politics and current affairs, and is currently studying for a masters degree in economics and public policies.

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