The aim of this study is two fold. First is to develop genealogical resources to allow advanced studies of the heritability of disorders in the Old Order Amish and related Anabaptist sects. These groups are important to study because they are small, well defined population isolates. In addition, they are enthusiastic historians and have excellent printed genealogical records. We have accomplished much of the first goal by building the Amish Genealogy Database (AGDB) and several computational tools to analyze that database including PedHunter. These tools allow us to generate accurate pedigrees for genetic study in a accurate and rapid fashion. The second goal is to study the genetics of heritable disorders in these groups. To that end we have already cloned the genes that are altered in Glycogen storage disease type 6, McKusick-Kaufman syndrome, Amish Nemaline Myopathy, and are currently working on Amish Microcephaly. We have identified the gene alteration in Amish microcephaly, which is a gene that codes for a protein that transports deoxynucleotides into the mitochondria. We are currently working on an animal model for this disorder where we can test hypotheses of pathogenesis and possible treatments.
| Francomano, Clair A; McKusick, Victor A; Biesecker, Leslie G (2003) Medical genetic studies in the Amish: historical perspective. Am J Med Genet C Semin Med Genet 121:1-4 |
| Slavotinek, Anne; Biesecker, Leslie G (2003) Genetic modifiers in human development and malformation syndromes, including chaperone proteins. Hum Mol Genet 12 Spec No 1:R45-50 |
| Agarwala, Richa; Biesecker, Leslie G; Schaffer, Alejandro A (2003) Anabaptist genealogy database. Am J Med Genet C Semin Med Genet 121:32-7 |
| Slavotinek, A M; Searby, C; Al-Gazali, L et al. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet 110:561-7 |
| Rosenberg, Marjorie J; Agarwala, Richa; Bouffard, Gerard et al. (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 32:175-9 |
| Biesecker, Leslie G (2002) Coupling genomics and human genetics to delineate basic mechanisms of development. Genet Med 4:39S-42S |
