Balancing the role of the dental school in teaching, research and patient care; including care for underserved areas

Inequalities within dentistry are common and are reflected in wide differences in the levels of oral health and the standard of care available both within and between countries and communities. Furthermore there are patients, particularly those with special treatment needs, who do not have the same access to dental services as the general public. The dental school should aim to recruit students from varied backgrounds into all areas covered by the oral healthcare team and to train students to treat the full spectrum of patients including those with special needs. It is essential, however, that the dental student achieves a high standard of clinical competence and this cannot be gained by treating only those patients with low expectations for care. Balancing these aspects of clinical education is difficult. Research is an important stimulus to better teaching and better clinical care. It is recognized that dental school staff should be active in research, teaching, clinical work and frequently administration. Maintaining a balance between the commitments to clinical care, teaching and research while also taking account of underserved areas in each of these categories is a difficult challenge but one that has to be met to a high degree in a successful, modern dental school.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p< 10(25)). Conclusion: Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.