Gene Screen is an intriguing and informative app developed by the Cold Spring Harbor Laboratory to increase understanding of recessive traits and diseases and how they are inherited. The free educational app includes maps showing the prevalence of these diseases in specific regions and populations throughout the world, background on recessive single-gene diseases, and information about screening programs to detect the presence of recessive genes.
Download the Gene Screen app to your iPhone, iPad, or iPod Touch App Store, or through Apple iTunes, and start learning about some of the most fascinating single-gene diseases affecting humans! The appearance of these traits/diseases often comes as a surprise: If two recessive genes for a genetic disease “get together” at conception, the child may develop traits or diseases not seen in either parent or even in preceding generations! Gene Screen uses animations to present basic information in four major areas: genes and inheritance, population genetics, recessive genetic diseases, and genetic screening.
Within each topic, animations, video presentations by leaders in the field, and biographies bring the information alive. Interactives allow users to work out typical inheritance patterns of recessive genes, and to calculate the relative frequency of carriers for 19 specific genetic diseases. Among them: Nemaline myopathy, Joubert syndrome, and Maple sugar urine disease. In each case, a simple click enables users to “learn more about this disease.” Other recessive genetic diseases discussed in this app are more widely known: Cystic fibrosis, Sickle cell disease, and Phenylketonuria (PKU).
These traits and modes of inheritance can affect anyone. More than 4,000 human genetic disorders are due to some type of single-gene defect, many of them recessive. The information on this site is directed toward “educators, students, health professionals, clergy, and the public” – in short, everyone who wants to learn more about this important aspect of human inheritance.
About the Creator:
Gene Screen was produced by the Cold Spring Harbor Laboratory in the DNA Learning Center.