The Chromosome 18 Registry & Research Society is committed to facilitating research aimed at finding answers that will help families affected by the syndromes of chromosome 18. Our goal is to understand the clinical and educational ramifications of the chromosome 18 syndromes. As more information is gathered, treatments, interventions and therapies will be devised.

What are our goals?

It is always best to set our goals based on where we want to end up. The following is the scenario that we would like to see happen when a family is in their physician’s office and about to receive the news that their baby has a chromosome 18 abnormality.

The doctor might say, your child has a rare chromosome abnormality, but:

• This is a well characterized condition
• The molecular analysis of your baby’s DNA tells us that your child is not at risk for the following things sometimes associated with the condition.
• The molecular analysis also tells us that we should:
  • watch for these possible problems
  • and begin these therapies now.
• With a lot of work, your child can grow up to experience a full life with all possibilities that your other children enjoy.
• There is an active organization of families who you can meet, learn from and who will help you make sure you are doing all you can for your special child.

This is far from what happens today. Families are usually told that the syndrome is rare and there is little known, they will just have to wait to see how the child does. Research is the key to getting from today’s scenario to tomorrow’s.

Our approach to reaching our goals

We have established a single clinical research center that will focus on those problems directly affecting families.

This will allow us to have:

• A single contact point for families to get medical information
• A large multidisciplinary team can be assembled who will perform comprehensive clinical evaluations
• A single team will assure that consistent clinical data is gathered
• All the information gathered will be in a single data set which will strengthen the conclusions that can be drawn from the information.

Two thirds of the Registry income in 2002, went to support The Chromosome 18 Clinical Research Center. The Chromosome 18 Registry supports the enrollment process to insure that as many individuals as possible are able to enroll and participate in research studies.

Please note:

The Chromosome 18 Registry and the Chromosome 18 Clinical Research Center are separate entities and maintain separate lists of members and/or participants. The Registry does not share names with the Research Center and vise versa. Inclusion in one does not imply or obligate inclusion in the other. Therefore, if you want Registry membership information, you must contact the Registry. If you want research participation information, you must contact the Research Center.