What makes us unique. Changes in the number and order of genes (A–D) add variety to the human genome InversionInsertion DeletionCopy number variation Reference.

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Presentation transcript:

What makes us unique. Changes in the number and order of genes (A–D) add variety to the human genome InversionInsertion DeletionCopy number variation Reference There are variations in genes that make us unique

Genes can have variation that does not necessarily cause disease. These variations may have an effect on how much protein it produced or how well that protein works. In an otherwise healthy person, this variation may have little or no effect. In a person with a disease like CF, this variation may modify the severity of the CF symptoms. Genes that modify CF symptoms are called modifier genes. NOW WE UNDERSTAND THE ROLE OF CFTR… WHAT ABOUT GENES THAT MODIFY CF?

SNPs: Single Nucleotide Polymorphisms A single nucleotide change in the DNA of a gene can be enough variation to change how the gene works and may modify CF symptoms.

The CF Twin and Sibling Study is looking for genetic variation that is linked with CF. It is important that we study families, not just individuals diagnosed with CF. If we know the parent’s genetic variation, we can then study what combinations of genetic variation they give to their children.

We also examine what genetic variation siblings do and do not share. We then compare the genetic variation with symptoms. Where these pieces of information line up in the family (shared variations and shared symptoms) give clues for genes that may affect CF disease.

CF patients live in their own unique environments (smoking, diet, and exposure to pollutants). Using families also helps us sort out which CF symptom differences are caused by genetic factors, caused by environmental factors, or caused by a combination of genes and environment.

Finding other genes ( like the ones that effect Diabetes, BMI, Lung Disease ) will help us to understand why symptoms happen and help us to predict those symptoms. We can then design treatments or medicines based on personal risks.

The Future Individuals respond differently to drugs and sometimes the effects are unpredictable. Differences in DNA…targeted by drugs can contribute significantly to variation in the responses of individuals… This intersection of genomics and medicine has the potential to yield a new set of molecular diagnostic tools that can be used to individualize and optimize drug therapy. William E. Evans and Mary V. Relling. Moving towards individualized medicine with pharmacogenomics. Nature 429, (27 May 2004)