Woman in famous Wyeth painting suffered from genetic disorder

Its gripping imagery has captivated art lovers for decades, but Andrew Wyeth’s almost universally recognizable painting Christina’s World still has a story to tell. The painting’s subject, Wyeth’s friend and neighbor Christina Olson, suffered from a progressive neurodegenerative disorder that, although undiagnosed, had been attributed to the effects of polio. Now a modern medical investigation suggests that she actually had a form of Charcot-Marie-Tooth disease (CMT), which would explain the progressive difficulty with movement that eventually made her unable to walk or use her hands. After closely examining the evidence pertaining to her condition—including close scrutiny of the painting itself, which was executed with photorealistic precision—Marc Patterson, a professor of neurology, pediatrics, and medical genetics at the Mayo Clinic in Rochester, Minnesota, made the diagnosis of early-onset CMT. He presented his findings at the 23nd annual Historical Clinicopathological Conference, held May 2016 at the University of Maryland School of Medicine. “This was a fascinating case,” Patterson stated in a news release issued by the meeting organizers. “This painting has long been a favorite of mine, and the question of Christina’s ailment was an intriguing medical mystery. I think her case best fits the profile of this disease.” —Karyn Hede, News Editor

New tool for sifting functional genomics data

A new publicly available tool is designed to help investigators understand the functional significance of genomic data. University of California San Diego bioengineers created what they are calling the first online search engine for functional genomics data. GeNemo (http://www.genemo.org) allows users to input any complete or partial functional genomic data set, such as a binding intensity file, and the algorithm will search online functional genomic data sets, including the entire collection of ENCODE and mouse ENCODE data sets, for matching pattern in functional genomic regions. GeNemo reports matches ranging from 100 bases to 100,000 bases that share patterns such as binding, modification, and accessibility, according to Xiaoyi Cao, one of the developers. The tool addresses the problem of matching functional outcomes, which are stored as genome-wide intensities (WIG/bigWig files) or functional genomic regions (peak/BED files), with the results of high-throughput DNA sequencing. It can search genome-wide distributions of transcription factor binding, epigenetic modifications, regulatory regions, and other functional outcomes. “I am excited to see how different research teams from around the world use this powerful new tool to make better use of the massive amounts of functional genomic data that is being generated every day,” said Sheng Zhong, the lead author of the Nucleic Acids Research article that announced the new search engine. —Karyn Hede, News Editor

In Memoriam

R. Neil Schimke, MD (1935–2016)

Robert Neil Schimke was a professor of internal medicine and pediatrics at the University of Kansas Medical Center. His dual expertise in clinical genetics and endocrinology provided unique insights in more than 180 publications on hereditary cancer, birth defects, endocrinology, heart disease, kidney disease, connective-tissue conditions, and developmental delay. An early disciple of Victor McKusick, Neil excelled in the art of clinical delineation and sorting out genetic heterogeneity long before the relevant genes were discovered, for example, delineating MEN 2B and distinguishing Marfan syndrome from homocystinuria in the late 1960s.

Dr. Neil Schimke wrote some of the earliest books on clinical genetics, endocrinology, and genetic disorders of human sexual development, including Genetic Disorders of the Endocrine Glands (coauthored with David Rimoin, 1971), and served as editor of the endocrinology section of the Birth Defects Compendium. He also wrote book chapters on thyroid diseases, metabolic genetic conditions, and kidney disorders.

Demonstrating early recognition of the role of genetics in cancer, Genetics and Cancer in Man was written during his 1977 sabbatical in the Department of Human Genetics, University of Edinburgh, under Alan Emery. This book highlighted individual and family characteristics that identify hereditary cancer syndromes. Another book, Clinical Genetics (1979), coauthored with Laird Jackson, was among the core texts used by geneticists, genetic counselors, and laboratory geneticists hoping to pass the first American Board of Medical Genetics exam.

An early leader in the field, Neil was elected to the board of directors of the American Society of Human Genetics and the American Board of Medical Genetics. He was also an editor of internal medicine, endocrinology, and genetics journals and a member of the review committee of the National Cancer Institute.

His longstanding expertise and von Hippel-Lindau profile in GeneReviews.org grew out of early collaborations with colleagues, all contributing to mapping the VHL gene.

Dr. Schimke’s long, distinguished career was, and will continue to be, an inspiration to those of us who spend their lives in the field of Medical Genetics.—Debra Collins and William Horton