Chromosome abnormalities are a significant cause of medical and developmental problems. We believe that children's health research, and especially genetic research, is dramatically under-supported. As we advocate for additional funding to study chromosome abnormalities, it is important to know some important facts and figures relating to genetics and research.
- About 1 in 180 babies is born with a chromosome abnormality. The most common is Down syndrome, followed by Fragile-X syndrome. Collectively, the next most common are the syndromes of chromosome 18.
- The estimated frequency of the deletions syndromes of chromosome 18 (18p- & 18q-) is about 1/40,000 births. This means that about 100 babies per year in the United States are born with 18p- and 18q-.
- About 50% of individuals with intellectual disability have a chromosome abnormality.
The Human Genome
- Genes are the units of instruction that the cells of the human body use to carry out their functions.
- There are over 200 different types of cells in the human body (for example, muscle cells, liver cells, and nerve cells).
- Every cell has the same complete set of instructions. But different cells use different instructions; this is what makes them different.
- The chemical language in which genes are written is called "DNA," which is shorthand for "deoxyribonucleic acid".
- In the chemical code of DNA, each letter of the code is called a "base pair".
- There are thought to be about 3 billion base pairs in the human genome.
- Only about 3% of the DNA actually codes for genes; the rest is often called "non-coding DNA" because its function is unknown.
- A genome is the total compliment of genes for an organism.
- There are approximately 23,000 genes in the human genome.
- Most of the biomedical research performed in the United States is funded by the National Institutes of Health (NIH). The United States Congress determines the amount of money the NIH receives in order to carry out their mission.
- 3% of the US population has an intellectual disability.
- 3% of the 1996 NIH budget was 357 million dollars, but the National Institute of Child Health and Human Development spent only $86.3 million on intellectual disability research.
- Children made up 32% of the population in 1996, but only 14% of direct NIH funding was spent on childhood disorders.
- One-third of pediatric hospital admissions are for children with genetic conditions.