Limb malformation is an important model of gene expression control during the development of an embryo. These diseases are generally a result of a mutation in the DNA which causes some genes to be expressed too much or too little. For an example, if there is too much expression of a certain gene, you may end up with more than five fingers on one hand. Limb development is a good model system to study because it is easy to identify what went wrong during development. For instance, each finger on our hand is different from one another. These differences are due to the different genes being expressed at different locations and time when the baby is developing inside their mother. If we compare the DNA of a patient without thumbs to a normal person, we may be able to find the genes responsible for developing thumbs through the differences in their DNA. It is important to study these diseases to understand how normal limb development works. This allows us to understand what mutations are causing these diseases and by looking for these mutations in a person’s DNA, you may be able to inform potential parents about having children with these deformities. Studying limb development can help researchers find what elements in the DNA are responsible for malformations and can improve methods to identify these elements.
Note: It was difficult to identify what is truly important for the general public to know. There needs to be a balance between being detailed enough to be able to explain my points and not going too in depth which you would need a biology background to understand.
One Comment
Good work, this was a difficult “assignment” (you are right-identifying what is truly important for the general public is not easy!).
A couple of suggestions: when you talk about people without a thumb vs. normal people… it would be more precise, more accurate and more appropriate to say “people who have thumbs” instead of “normal” (if we use normal to mean wild-type, I don’t know if anyone is really 100% wild-type, and in this particular case we don’t care whether the person with thumbs has lactose persistence or cystic fibrosis or blonde hair: we are only comparing the thumbs phenotype). Also, since you started by giving an example where a person has extra digits, why not continue using that example?
Do you think a little sentence about how studying the genes responsible for limb development can help understand how these genes function and carry out other tasks in the body could be helpful to inform and educate the public, too?