Almost fifty participants tuned in from across the globe to hear Prof. Gibbs outline his thoughts on the current state of research into the AHDC1 gene and Xia-Gibbs Syndrome, including an update on the current distribution of XGS diagnoses globally and participation in the XGS Patient Registry.
It was particularly exciting to hear about developments in the research into the function of the AHDC1 gene more broadly, including a recent article in the journal ‘Nature’ by a team led by Dr. Anthony Oro, which provides hope that a wider range of institutions might begin to form interest in researching the gene.
Prof. Gibbs then fielded questions from the community on a range of topics, mostly related to the Xia-Gibbs Syndrome phenotype.
The presentation was recorded for those who could not attend and can be accessed below, with the presentation slides available here.
You might find our Genetics 101 information helpful as you watch the recording!
You can find out more about the work of Xia-Gibbs Society, including our annual Xia-Gibbs Society Research Grant Award, here.
To request information about the XGS Patient Registry, please complete this form.
RICHARD A. GIBBS, AC Ph.D.
FOUNDING DIRECTOR, BAYLOR COLLEGE OF MEDICINE HUMAN GENOME SEQUENCING CENTER,
WOFFORD CAIN PROFESSOR OF HUMAN AND MOLECULAR GENETICS,
Richard Gibbs was born in Australia and graduated from Melbourne University in 1986 in Genetics and Radiation Biology. He moved to the USA to Baylor College of Medicine, where he performed key work on the molecular characterization of human genetic disease and provided an early leadership role for the Human Genome Project (HGP). In 1997 he founded the BCM Human Genome Sequencing Center (HGSC), one of five main groups to complete the HGP. The HGSC then led many genome projects for model species and contributed to the Mammalian Gene Collection, the Hapmap Project, the 1000 Genomes Project and the Cancer Genome Atlas. Since 2005, the group pioneered Personal Genomics, beginning with the personal genome sequences of James Watson and James Lupski and then developing the now ubiquitously used DNA exome capture technologies to create the first Genetics Diagnostics Laboratory to be based on whole gene sequencing. The group has made innumerable Mendelian disease gene discoveries and is now focused on accelerating clinical translation of genomics in adult care, via cardiovascular disease risk testing as well as being one of three centers to generate the data for the national All of Us Program.
Gibbs was elected to the National Academy of Medicine in 2011 and was recognized as one of the 400 most influential biomedical scientists in the world in 2013 (Eur J. Clin. Invest. 2014).