Gender	Male
E-mail	andrew.bergemann@mssm.edu
Awards	2009 Junior Faculty Academic Excellence Award
	2006 - 2010 Hirschl award

Specific Clinical/Research Interests: Neural cell fate determination

Summary of Research Studies:
The laboratory currently has two core objectives. The first is to identify the pathogenic genes of Wolf-Hirschhorn syndrome (WHS). Children with WHS display mental retardation, epilepsy, growth retardation, and abnormal facial appearance. The disorder is due to deletions near the telomere of chromosome 4. However, the critical genes in the region have not been identified. A mouse model of WHS, based upon deletions within the orthologous region, currently exists. Our laboratory is using BAC transgenic rescue of the mouse model to identify the pathogenic genes. The second focus of the laboratory is to functionally define the novel transcription factor Fam53A. Members of the Fam53 family are considered key regulators of stem cell proliferation. We have found that Fam53A is an essential gene in mouse development. Our laboratory is using a combination of mouse genetic and cell biological approaches to understand the role of Fam53A in early development.

Bergemann AD. Distinctive EEG patterns in patients with Wolf-Hirschhorn syndrome. Dev. Med. Child Neurol;.

Simon R, Bergemann AD. Mouse models of Wolf-Hirschhorn syndrome. Am. J. Med. Genet 2008; Part C.

Simon R, Lufkin T, Bergemann AD. Homeobox Sax2 deficiency causes imbalance in energy homeostasis. Dev. Dyn 2007; 236: 2792-2799.

Wortman MJ, Johnson EM, Bergemann AD. Mechanism of DNA binding and localized strand separation by Pur alpha and comparison with Pur family member Pur beta. Biochim. Biophys Acta 2005; 1743: 64-78.

Bergemann AD, Cole F, Hirschhorn K. The Etiology of Wolf-Hirschhorn Syndrome. Trends Genet 2005; 21: 188-195.

Jun L, Balboni AL, Laitman J, Bergemann AD. Isolation of DNTNP, a nuclear protein expressed in developing, dorsal neural tube. Dev. Dyn 2002; 224: 116-124.

Nakamoto M, Bergemann AD. Diverse roles for the Eph family of Receptor Tyrosine Kinases in Carcinogenesis. Micros. Res. Tech 2002; 59: 58-67.