Micheala Aldred Assistant Professor Ph.D. Training Faculty

Genomic Medicine Institute Cleveland Clinic Foundation Cleveland, Ohio 44195 Tel: (216) 445-4336 Fax: E-mail: aldredm@ccf.org

About Micheala Aldred

Micheala Aldred graduated from University College London in 1988 with a first class degree in Genetics. Her PhD studies were conducted at the MRC Human Genetics Unit, Edinburgh, where she worked on the genetics of X-linked retinitis pigmentosa under the mentorship of Alan Wright. After postdoctoral fellowships in Edinburgh and Cambridge, UK, Dr Aldred moved to the University of Leicester where she headed the clinical molecular genetics diagnostic laboratory for five years. She established a mutation service for Albright hereditary osteodystrophy and also worked with Richard Trembath on the genetics of pulmonary hypertension. In 2001, she was awarded an Advanced Training Fellowship from The Wellcome Trust and took a sabbatical in the laboratory of Charis Eng, then at The Ohio State University, returning to Leicester in 2003. She joined the new Genomic Medicine Institute at the Cleveland Clinic as Assistant Staff in March 2006.

Research

The primary focus of my laboratory is the 2q37 deletion syndrome. 2q37 is the very terminal part of the long arm of human chromosome 2. Deletion of this segment of genetic material can lead to a variety of clinical problems, most often including a slightly unusual facial appearance and developmental delay. A small number also have a congenital heart abnormality. About half of people with this deletion have some shortening of certain bones in their hands and feet (brachydactyly), very similar to that seen in Albright hereditary osteodystrophy (AHO). The aim of our research is to discover which genes within the 2q37 region are important in bone and heart development. We study DNA samples from persons with this deletion to identify exactly where the genetic break occurs in each case. Although this seems to be quite an uncommon chromosome abnormality, with only about 80 cases reported in the literature, we have so far ascertained 30 cases. We are also interested to study DNA from people with AHO-like brachydactyly who have tested negative for mutations in GNAS, the gene mainly responsible for AHO, to determine whether they might have a very small deletion at 2q37 that is not detectable by standard chromosome analysis. Lastly, since three children with this deletion have developed Wilms' tumor, a childhood kidney cancer, we are investigating whether genes in this region contribute to susceptibility for this cancer.

Selected Publications