Gene 555 (2015) 1
Contents lists available at ScienceDirect
Gene journal homepage: www.elsevier.com/locate/gene
Editorial to the Special Issue Historical Medical Genetics II
Genetics has had an important impact on medicine, primarily on inherited disorders, but increasingly also in wider areas of medical research and practice. Constantly, discoveries that were once considered new rapidly become part of history. In this respect there is a need to preserve material forming the historical basis of medical genetics, to allow us to appreciate, and put into context, landmark discoveries. This special issue presents several historical accounts of genetic diseases. Sebastiano Calandra and colleagues describe the history of the discovery of autosomal recessive hypercholesterolemia starting from simple clinical observations of rare patients that were later corroborated through advances in clinical and laboratory investigations, leading to current hypothesis regarding the molecular mechanisms. Likewise Maria Coutinho and colleagues, present the history behind lysosomal storage diseases expanding on the knowledge gained on over the past 50 years and in the field of “metabolic medicine” first developed by Archibald Garrod in 1909. Over the years the use of combined biochemical, morphological, cellular and molecular methodologies to study the lysosome and its related diseases have been crucial not only to clarify their complex pathobiology but also to expand our view of this organelle. Tattersall and Fajans first coined the acronym MODY in 1974, for maturity-onset of diabetes of the young. This form of monogenic diabetes, usually developing in later adulthood, is often misdiagnosed. Khalid Siddiqui and colleagues explore the historical background of this disease and the identities of those significant factors that differentiate it from type 1 and type 2 diabetes. Adriana Graziano and Venera Cardile give an historical overview of Krabbe disease from its first description in 1916, by the Danish neurologist Knud Haraldsen Krabbe, to subsequent scientific investigations defining the cause and molecular mechanisms. Katarzyna Tońska and colleagues present the first clinical and treatment description of Leber hereditary optic neuropathy patients and their family pedigrees based on Dr. Theodor Leber's notes, from over 140 years ago. This first historical description of a genetic mitochondrial disease, was made without many of the complicated techniques currently available. Mayer– Rokitansky–Küster–Hauser syndrome is a congenital defect of the Müllerian ducts. Sourav Patnaik and colleagues, present a timeline
http://dx.doi.org/10.1016/j.gene.2014.11.023 0378-1119/© 2014 Published by Elsevier B.V.
from reports of similar defects dating back to Hippocrates through to the important work of August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. Through this, it is possible to get more of an overview regarding the disease types and different classification systems. We also read about the historical case of Queen Amelia of Greece who appears to have suffered. Henri de Toulouse-Lautrec, a 19th century artist celebrated for his depictions of the Moulin Rouge and Parisian nightlife, suffered from a rare genetic disorder. During his lifetime and following his death, potential diagnoses have proved controversial, including the most popularly supported suggestion of pycnodysostosis. Addressing the ongoing debate over Toulouse-Lautrec's diagnosis, this special issue contains an article reconsidering the evidence. Similarly, Joseph Merrick, often referred to as the Elephant Man, presented with an obscure condition that baffled his contemporaries, and remains undiagnosed to this day. The theories advanced to explain his symptoms have included neurofibromatosis, proteus syndrome, and a combination of childhood injury, fibrous dysplasia, and pyarthrosis. Angus Hodder and colleagues report on the current literature surrounding this case towards understanding the aetiology of the condition. Nenad Bukvic and John Elling clinically evaluate Art Masterpieces using diagnostic algorithms with differential diagnosis to identify speculative cases of Down syndrome, Angelman syndrome, Prader–Willi syndrome, achondroplasia and Noonan syndrome in well-known paintings. Art has long portrayed disease either through affected individuals or the artists themselves inadvertently sometimes serving as historical accounts. Collected together in this special issue these papers give fascinating examples and historical accounts of genetic diseases. Christopher Murgatroyd Manchester Metropolitan University, Manchester M1 5GD, United Kingdom E-mail address: [email protected].
Contents lists available at ScienceDirect
Gene journal homepage: www.elsevier.com/locate/gene
Editorial to the Special Issue Historical Medical Genetics II
Genetics has had an important impact on medicine, primarily on inherited disorders, but increasingly also in wider areas of medical research and practice. Constantly, discoveries that were once considered new rapidly become part of history. In this respect there is a need to preserve material forming the historical basis of medical genetics, to allow us to appreciate, and put into context, landmark discoveries. This special issue presents several historical accounts of genetic diseases. Sebastiano Calandra and colleagues describe the history of the discovery of autosomal recessive hypercholesterolemia starting from simple clinical observations of rare patients that were later corroborated through advances in clinical and laboratory investigations, leading to current hypothesis regarding the molecular mechanisms. Likewise Maria Coutinho and colleagues, present the history behind lysosomal storage diseases expanding on the knowledge gained on over the past 50 years and in the field of “metabolic medicine” first developed by Archibald Garrod in 1909. Over the years the use of combined biochemical, morphological, cellular and molecular methodologies to study the lysosome and its related diseases have been crucial not only to clarify their complex pathobiology but also to expand our view of this organelle. Tattersall and Fajans first coined the acronym MODY in 1974, for maturity-onset of diabetes of the young. This form of monogenic diabetes, usually developing in later adulthood, is often misdiagnosed. Khalid Siddiqui and colleagues explore the historical background of this disease and the identities of those significant factors that differentiate it from type 1 and type 2 diabetes. Adriana Graziano and Venera Cardile give an historical overview of Krabbe disease from its first description in 1916, by the Danish neurologist Knud Haraldsen Krabbe, to subsequent scientific investigations defining the cause and molecular mechanisms. Katarzyna Tońska and colleagues present the first clinical and treatment description of Leber hereditary optic neuropathy patients and their family pedigrees based on Dr. Theodor Leber's notes, from over 140 years ago. This first historical description of a genetic mitochondrial disease, was made without many of the complicated techniques currently available. Mayer– Rokitansky–Küster–Hauser syndrome is a congenital defect of the Müllerian ducts. Sourav Patnaik and colleagues, present a timeline
http://dx.doi.org/10.1016/j.gene.2014.11.023 0378-1119/© 2014 Published by Elsevier B.V.
from reports of similar defects dating back to Hippocrates through to the important work of August Franz Joseph Karl Mayer, Karl Freiherr von Rokitansky, Hermann Küster and Georges André Hauser. Through this, it is possible to get more of an overview regarding the disease types and different classification systems. We also read about the historical case of Queen Amelia of Greece who appears to have suffered. Henri de Toulouse-Lautrec, a 19th century artist celebrated for his depictions of the Moulin Rouge and Parisian nightlife, suffered from a rare genetic disorder. During his lifetime and following his death, potential diagnoses have proved controversial, including the most popularly supported suggestion of pycnodysostosis. Addressing the ongoing debate over Toulouse-Lautrec's diagnosis, this special issue contains an article reconsidering the evidence. Similarly, Joseph Merrick, often referred to as the Elephant Man, presented with an obscure condition that baffled his contemporaries, and remains undiagnosed to this day. The theories advanced to explain his symptoms have included neurofibromatosis, proteus syndrome, and a combination of childhood injury, fibrous dysplasia, and pyarthrosis. Angus Hodder and colleagues report on the current literature surrounding this case towards understanding the aetiology of the condition. Nenad Bukvic and John Elling clinically evaluate Art Masterpieces using diagnostic algorithms with differential diagnosis to identify speculative cases of Down syndrome, Angelman syndrome, Prader–Willi syndrome, achondroplasia and Noonan syndrome in well-known paintings. Art has long portrayed disease either through affected individuals or the artists themselves inadvertently sometimes serving as historical accounts. Collected together in this special issue these papers give fascinating examples and historical accounts of genetic diseases. Christopher Murgatroyd Manchester Metropolitan University, Manchester M1 5GD, United Kingdom E-mail address: [email protected].
