Drs. Rebecca and Victor Ionasescu, researchers into muscular dystrophy and Charcot-Marie-Tooth, have passed away after a long life with each other.

Dr. Rebecca (Gabi) Ionasescu, who specialized in internal medicine and conducted research in immunology back in Romania, joined Victor in the 1970s in his neuromuscular laboratory doing tissue cultures in Duchenne muscular dystrophy. Gabi became an expert at tissue cultures of muscle cells and studied media formulation in the lab of Dr. Richard Ham, who developed many of the serum-free media formulations used by labs today. Gabi then went on to learn the special techniques required for research in a type of genetic nerve disease called Charcot-Marie-Tooth neuropathy. In 1982, Victor and Gabi began their work with Charcot-Marie-Tooth neuropathy and spent 15 years searching for the genes that cause the debilitating disease. Victor along with his wife spent a sabbatical year at Oxford University in the lab of Dr. Kay Davies learning the specialized recombinant DNA techniques, which allowed them to carry out this research. Victor had one of the largest databases of patients afflicted with this disease in U.S, which was the foundation of his genetics lab.

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The New York Times recently digitized its pre-Internet archives and opened them to the public, so today I ran a search and found a single mention of Dejerine-Sottas disease. It’s an interesting article on the use of x-ray crystallography to shed some light on the proteins created by the P0 mutation, one of the mutations that causes Dejerine-Sottas.

Protein Linked to 3 Nerve Ailments

IN two papers representing the work of 19 researchers, scientists reported last week that they had seen, at a molecular level, the damage to an important protein that is the cause of three genetic nerve disorders. Dr. Thomas Bird, a professor at the University of Washington and chief of neurology at the Veterans Affairs hospital in Seattle, who is not associated with the groups who made the reports, said that the papers are examples of where medicine has arrived: at the molecular detail of human disease.

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A new Miami Institute for Human Genomics, which will search for genetic origins of common diseases such as autism and Alzheimer’s, opened its doors Tuesday to great expectations.
Its purpose: changing the way medicine works.
”The future of medicine depends entirely on projects from the field of genomics,” or the study of all the genes in humans, medical school dean Dr. Pascal Goldschmidt said at Tuesday’s opening.
The University of Miami institute is only the second of its kind in the United States. The Broad Institute of Harvard University and Massachusetts Institute of Technology was founded in 2003. Genomic research is part of the focus at Scripps Institute at Florida Atlantic University in Boca Raton, where 230 researchers are looking at discovering new drugs.
The UM genomics institute will focus on the genetic origins of multiple sclerosis, age-related macular degeneration, amyotrophic lateral sclerosis (Lou Gehrig’s disease), tuberculosis and Charcot-Marie-Tooth disease, as well as cardiovascular disease, neurodevelopmental disorders and cancer.
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