Dr. Alice Abdel Aleem was bom and raised in Egypt. She graduated in medicine from Cairo University in 1983. Subsequently she received an MSc and an MD degree in Human Genetics from the Faculty of Medicine of Ain-Shams University.
In 1992 she gained a doctoral fellowship to study the molecular basis of Fragile X mental retardation syndrome, at the Human Genetics Institute of the Medical School Hannover, in Germany. In 1995 she published in Human Genetics, her first article on molecular diagnosis of fragile X syndrome and described a new method of non- radioactive labeling of long genomic probes, which gives signals stronger and more potent than the commercial kits. She continued her studies in molecular genetics in Hanover through a postdoctoral fellowship (1998-1999), analyzing the fibrilin 1 gene in a group of German patients with Marfan syndrome. In 2001 she traveled to Marburg University, Human Genetics Institute, Germany and worked under the supervision of Professor Grzeschik who is an authority on the genetics of Polydactyly. There she trained in Single Stranded Conformational Analysis (SSCA) for screening mutations.
In her Molecular Genetics laboratory in Cairo, Alice continued her research on Trinucleotide repeat diseases and established the molecular diagnosis of Huntington disease and Spinocerebellar Ataxias.
Dr Aleem was the principle investigator of two research projects funded by the NRC in Cairo. One project was to study the expression of FMR1 gene at the transcriptional level in Egyptian patients with Fragile X mental retardation syndrome. The second project studied the Estrogen receptor alpha gene polymorphisms, genotypes distribution and genetic susceptibility to osteoporosis in Egyptian population. Now she is participating as the main molecular investigator in a large project funded by the NRC to study lissencephaly and Rett syndrome. She is running a medical diagnostic service, offering molecular diagnosis for Fragile X syndrome. Achondroplasia, and Huntington disease. The service is open to the public through the Medical Service Unit of the NRC.The award winning paper that Alice and her colleagues published in EMJ deals with molecular mechanisms of Fragile X syndrome.
Fragile X (fra-X, FRAXA) syndrome is the prototype of a group of genetic diseases caused by a specific type of gene mutation called "Dynamic mutation". This dynamic mutation is concerned with trinucleotide repeat array located either in the coding region of the concerned genes or in the non-coding regions. The polymorphic CGG repeat units present at the 5 prime untranselated region of FMR1 gene is marked by variable ranges of expansion from premutation "carrier" state to full mutation with concomitant hypermethylation "affected" state. Expansion from small to larger premutation to full-mutation occurs during maternal transmissions only. Little is known about the mechanisms involved in repeat number alteration, specifically, the causes for FMR1 alleles to contract as an alternative to expand in the subsequent generation. In this award winning work Alice attempted to assess the carrier state in females of two unrelated families in whom mentally retarded fragile X boys were delineated. The observation would likely have a major impact on the effectiveness of genetic counseling in such conditions.
Alice carried out direct fragile X mutation analysis, by genomic DNA Southern blotting, applying a non-radioactive "digoxigenin" labeling and hybridization protocol followed by chemiluminescent detection. This study showed a novel observation of FMR1 instability in a FRAXA family in which a premutation allele in a carrier mother was expanded, into larger premutation in one of her daughters, whereas, it was contracted in her second daughter to smaller premutation. This works also reports on another case of repeat contraction with loss of methylation in an affected fra X son of a mother with full mutation. Although, reduction events of trinucleotide repeat tract, either within the permutation size range or full mutation size contraction with loss of methylation, are still considered uncommon events. But it might be pointed out that contractibility and expandability are intrinsic properties of such particular alleles.
Dr. Alice Abd El Aleem is awarded for her original article published in the Emirates Medical Journal from outside UAE for the year 2003-2004
