How to Conquer a Chromosome Abnormality— What is the treatment potential for some with a chromosome abnormality?

University of Texas Health Science Center at San Antonio, Department of Pediatrics The Chromosome 18 Clinical Research Center

What can be done—changing gene expression Special points of interest: ly in the mechanisms used to achieve  Changing gene expression What treatment is available for per- done for chromosome abnormalities. sons with chromosome abnormalities? the goal. What we fundamentally need When we talk about treatments, we  Identifying treatments We recognize that you cannot replace to do is to change gene expression. For intend the term to be used very broad- the missing chromosome nor remove deletion conditions, we need to upregu- Getting Answers  the extra chromosome. However, late some genes to make one gene do treatments can be devised to counter- the work of two. For duplication condi- act the effects of the chromosome tions, we need to make three or four abnormality—especially if you know genes pull back and reduce output to the genes involved. This seems simple the normal level of two genes. and straightforward yet has not been

Treatments

Inside this issue: There are many known ways to change affect the production of key proteins. shown to be beneficial in individuals gene expression. This is not a new For example, some adults take a medi- with auditory processing disorders. concept. We each actually have the cation called a statin which is used to Getting Answers 2 While these treatments are not neces- ability to change gene expression treat certain disorder of lipid metabo- sarily specific for children with chro- through diet. One example is alcohol lism. Statins very specifically in- mosome 18 abnormalities, there is not dehydrogenases. As many of you have crease expression of important pro- reason to believe that they would not learned, if you rarely have a drink of teins that help the body get rid of this be beneficial in children that have alcohol, you quite easily begin to feel undesirable fat. these conditions. the effects. In contrast, if you drink There are also experiential forms of the same amount of alcohol every day treatment that have benefits. For for two or three weeks, you no long example, the early use of hearing aids Treatments feel the effects of a single glass of in children with hearing impediments Chemical alcohol. This is because of a very has substantial long-term cognitive *Dietary—alcohol dehydrogenases simple mechanism of increasing the benefits. *Drug—statins production of the key proteins called Experiential alcohol dehydrogenases that break There are also targeted means of *General—early use of hearing aids down and metabolize alcohol. improving outcomes. For example, *Targeted—Fast ForWord® for there are computer programs such as auditory processing disorders There are also drugs that we know can Fast ForWord® which have been How to Conquer a Chromosome Abnormality— Page 2 What is the treatment potential for some with a chromosome abnormality?

Getting Answers

We see parallel roads that together will graduate from high school? Will my child ty of the phenotypic features. Then we can get us to the answers we seek. First is a be able to have a family? We only learn begin to identify what treatments could clinical assessment which provides a the answers to these questions by follow- conceivably benefit—such as medications variety of useful information. First, it ing children for a very long period of time. or other forms of intervention. allows us to understand the deficits. The second aspect of getting answers is Getting Answers Secondly, it helps us identify some poten- “We can devise the molecular assessment. This assess- tial productive roads of treatment or Clinical Assessment ment allows us to obtain a well-defined treatments to intervention. In addition, when the chil- *Descriptive > treatment (management) understand of where the actual genetic dren are followed for a prolonged period *Natural History counteract the defect is located on the gene. Over time, of time, we begin to understand the natu- this will help us understand what are likely Molecular Assessment effects of a ral history. That is, we learn what happens consequences of a particular genetic *Define molecular defect when this two-year-old becomes an eight- chromosome defect. And finally, by correlating the *Mechanisms of rearrangements year-old or an 18-year-old. The most clinical features with the molecular fea- Correlation of Clinical & Molecular abnormality— common questions clinicians are ask by tures, we can identify which genes are *Finding key genes families of children with chromosome most important—that critical eight or ten *Understanding mechanisms of especially if we abnormalities are: Will my child grow up genes that are responsible for the majori- disease > treatment to be healthy? Will my child be able to know the genes involved.”

For more information, you may contact the authors and principal investigators of the Chromosome 18 Clinical UTHSCSA—Department of Pediatrics The Chromosome 18 Clinical Research Center Research Center at the phone numbers or email shown to the left. MSC 7820 7703 Floyd Curl Drive San Antonio, TX 78229-3900 Authors & Principal Investigators: Jannine D. Cody, PhD and Daniel E. Hale, MD Phone: 210-567-5321 Fax: 210-567-0919 E-mail: [email protected]

Our Motto To provide individuals and families affected by Information provided by The Chromosome 18 Clinical chromosome 18 abnormalities with comprehensive Research Center to: medical and educational information with a focus on treatment options.

We are on the web! http://pediatrics.uthscsa.edu/centers/chromosome 18/ http://www.chromosome18.org/ 210-657-4968