Progress in Human Genetics

Highlights of the 54th Annual Meeting of the American Society of Human Genetics; October 26-30, 2004; Toronto, Ontario, Canada

Sara M. Mariani, MD, PhD

In This Article


Knowledge, if it does not determine action, is dead to us.


A National Science Foundation survey performed in 2002 revealed that about 50% of Americans are interested in genetics but believe they are not well informed. Only approximately 10% were self-reporting as well informed. Yet, 70% to 80% are aware that the benefits stemming from genetics studies far outnumber the risks. Hence, there is still a substantial information gap that needs to be filled by researchers, healthcare professionals, and educators.

Genetics is a complex field of study that has substantially come to the fore in the past few years, with the high level of publicity surrounding the Genome Project that led to sequencing of the whole human genome. Although it builds the foundations of all biology and medicine, genetics uses fairly complex tools of investigation and analysis that are not of immediate access to nonspecialists.

Geneticists, however, are aware of their role in producing outstanding science and of their responsibility in educating all stakeholders, as outlined by Robert Nussbaum,[1] of the National Institutes of Health (NIH), Bethesda, Maryland, during his presidential address at the 2004 Meeting of the American Society of Human Genetics, recently held in Toronto, Ontario, Canada.

Far more efforts are, thus, being devoted than in the past to break outside of the inner circle and bring the results of genetic and genomic studies to colleagues in other branches of biology and medicine, as well as to the general public. In this process of integration of research and education, the Society is encouraging the discourse and application of human genetics to policymaking and educational programs.

A sign that things are improving is given by the fact that back in 1996 only about 20% of Americans knew what DNA is vs 60% in the latest National Science Foundation survey -- a very substantial increase. As the genetic makeup of an individual is acquiring more and more importance in the prevention, timely diagnosis, and tailored treatment of many diseases, a well-informed society can only benefit from more research and more knowledge.

To achieve this end, geneticists are also going, even more than in the past, beyond the boundaries of human genetics that are sometimes already blurred on their own. Hence, the promotion of interdisciplinary studies may lead to the application of concepts and techniques from one research field into the other. For example, geneticists are moving toward collaboration with experts in imaging, gene therapy, stem cells, and social sciences, just to name a few.[1]

Ultimately, the aim is "to increase the likelihood that an opinion on relevant matters will be held," as Dr. Rosenberg said in a past presidential address to the Society. The more evidence-based such an opinion will be, the higher the chance that it will provide benefit to those who need it.

In this article we report on the identification of the genetic defects underlying CHARGE syndrome and Hirschsprung's disease and the results of a large meta-analysis of pregnancy outcome data for babies born worldwide with in vitro fertilization techniques.

As an example of the cross-fertilization occurring between genetics and other disciplines, we outline the results obtained on Rett's syndrome, which seems to recapitulate multiple neurodevelopmental defects. Identification of the underlying molecular mechanism is expected to help explain other isolated, pathological conditions of the central nervous system.

And finally, a few words on the Gruber prize conferred this year to Dr. Marie Claire King for her work as a geneticist in the defense of human rights.


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