Year: 2018
Type: article
Abstract: This special issue of AJMG Part C covers a wide spectrum of knowledge about holoprosencephaly from molecular research to practical clinical concepts. Similar to the goal in the 2010 special issue on holoprosencephaly (Muenke, Solomon, & Odent, 2010), the aim of this issue is to serve the interest of both holoprosencephaly researchers and clinicians. New topics in the 2018 special issue include advances in fetal imaging and holoprosencephaly by Kousa et al. (2018), extracephalic manifestations by Martinez et al. (2018), Weiss et al. (2018) addresses adults with holoprosencephaly, and finally, Roessler et al. (2018) brings holoprosencephaly into the genomic age. In addition to holoprosencephaly updates, Hu et al. (2018) adds original research on copy number variants in over 200 individuals. The field of genetics and genomics has changed dramatically since our 2010 special issue on holoprosencephaly and we are sure the readers will gain an understanding of holoprosencephaly. In the introduction, covers a wide spectrum of knowledge about holoprosencephaly from molecular research to practical clinical concepts. Similar to the goal in the 2010 special issue on holoprosencephaly (Muenke, Solomon, & Odent, 2010), the aim of this issue is to serve the interest of both holoprosencephaly researchers and clinicians. New topics in the 2018 special issue include advances in fetal imaging and holoprosencephaly by Kousa et al. (2018), extracephalic manifestations by Martinez et al. (2018), Weiss et al. (2018) addresses adults with holoprosencephaly, and finally, Roessler et al. (2018) brings holoprosencephaly into the genomic age. In addition to holoprosencephaly updates, Hu et al. (2018) adds original research on copy number variants in over 200 individuals. The field of genetics and genomics has changed dramatically since our 2010 special issue on holoprosencephaly and we are sure the readers will gain an understanding of holoprosencephaly In the introduction, we would like to recognize Dr. Erich Roessler's achievements and his long-standing commitment to holoprosencephaly (HPE) research. Originally hailing from Texas, Erich has spent his professional life on the East Coast between the Children's Hospital of Philadelphia (CHOP) and the National Institutes of Health (NIH). One Erich's first major successes in this area came early in his career at CHOP when he identified mutations in Sonic Hedgehog (SHH) as a cause of HPE, making SHH the first gene to be associated with HPE. Subsequently, Erich would be a force in adding more genes and biological explanations to the list of etiologies for HPE including SIX3, TGIF1, FGFR1, FGF8, and GAS1. This body of work has led to our understanding of complex gene networks as well as continued elucidation of how variants in different genes may lead to clinically similar phenotypes. The advancement of this paradigm energized the field of molecular diagnostics and expanded our understanding of genetic mechanisms in children and adults with HPE. In addition to his scientific contributions, Erich has worked with many scientists and mentored generations of fledging researchers over the last two decades. As laboratory science often involves many hours of steady work with occasional interruptions of joy and excitement, Erich has kept his colleagues moving forward with his dry sense of humor, keen insights, and exceptional teaching abilities. Many of his Erich's mentees have graduated to positions away from CHOP and the NIH; however, we all know firsthand that they carry fond memories of Erich as a caring mentor, loyal friend, and scientific advocate (see some selected quotes from trainees and colleagues below). From a trainee point of view, Erich has always displayed a deep commitment to asking and exploring research questions in a rigorous and careful way as well as a very healthy skepticism about any new and shiny object, such as a novel cause of a disease or a new way to identify these causes. Many of the junior people in the laboratory (including two of the authors of this dedication!) tend to be easily entranced by these new and shiny objects. We had a joke that Erich would always listen to these ideas, would give a noncommittal reply, and then, within a day or two, would come back with what was typically a great—and sometimes heartbreaking—counterargument or probing question. At first, we newbies would be disgruntled, and assume that Erich just could not see how brilliant and different some new approach was, and that we could appreciate it because we were so open-minded (read: inexperienced and arrogant). However, time and time again, additional data or experiments would sooner or later prove that Erich had been right from the get-go. After a few rounds of this, we tended to immediately run to Erich with any new-fangled hypothesis, and we definitely listened much more attentively when he detailed why we needed to think about things more deeply. More importantly, all of us realized how important it was to carefully apply the scientific method to our research practices, and that actually understanding the biology behind a question was much better than simply amassing tons of data and pulling out a semi-random correlation. The best thing about Erich is that, while he sometimes got a little “I told you so” smile on his face, he was always also very happy to admit when something was the real deal—this excited him more than any of us—because he really understood what a big deal it was to not only have an idea but also to provide strong evidence for it. P. Kruszka is a clinical geneticist in the National Human Genome Research Institute and a Captain in the Commissioned Corps of the U.S. Public Health Service. He leads several studies on genetic conditions and has specific interests in cardiac, neurologic, and other disorders. B. D. Solomon is the managing director of GeneDx. He is also a practicing, board-certified clinical geneticist. M. Muenke is the chief of the Medical Genetics Branch in the National Human Genome Research Institute. He has a longstanding interest in elucidating the genetics behind holoprosencephaly, craniofacial malformation syndromes, and attention deficit hyperactivity disorder, as well as an interest in improving knowledge about the formation of the central nervous system.
DOI: 10.1002/ajmg.c.31626
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4237364378