Neonatal Diseases

The human genome is often referred to as a "blueprint" and contains all of the information and instructions necessary for defining a human being. Most genes contain the information needed to make a protein, or molecules that carry out all of a cell's vital activities. Therefore, slight variations in genes lead to slight changes in a protein. Although some human diseases are explained by alterations in a single gene or of a single chromosome, most are complex and may involve multiple genes and protein pathways. A myriad of genes, as well as environmental factors, are believed to control the complex and integrated processes necessary for fetal development. When one or more of these processes goes awry, it can result in the birth of an individual with a genetic alteration. Scientific studies, often those that use other organisms as a model, will provide information about biological and regulatory processes involved in human development and will identify critical pathways in which genetic changes result in disease.

  • Achondroplasia
  • Angelman syndrome
  • Cockayne syndrome
  • Cystic fibrosis
  • DiGeorge syndrome
  • Fragile X syndrome
  • Marfan syndrome
  • Prader-Willi syndrome
  • Severe combined immunodeficiency
  • Waardenburg syndrome
  • Werner syndrome
  • Williams syndrome
  • Zellweger syndrome

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