Name: ________________________________ Genetic Disease Research Assignment – 10 points 1. Choose a genetic disease from the following list: (or choose your own!) • nanophthalmos 4 • indifference to pain • • • nail-patella syndrome Duchenne muscular dystrophy neurofibromatosis, type 1 familial susceptibility to breast-ovarian cancer 1 diastrophic dysplasia familial hypercholesterolemia 3 • • Rett syndrome Huntington disease • • • • Tay-Sachs disease familial susceptibility to breast-ovarian cancer 2 cystic fibrosis (CF) achondroplasia • • • • • • • • • • severe combined immunodeficiency, X-linked hemophilia A hemophilia B phenylketonuria androgen insensitivity syndrome sickle cell disease Wilms tumor 4 2. Go to https://www.omim.org/ and type the disease name into the search bar. 3. Use OMIM to obtain the following information: MIM