CM. From the Clinic to the Laboratory and back: Translational Research to Improve Diagnosis.

Today, with the announcement of the Nobel Prize in Chemistry to, «Emmanuelle Charpentier and Jennifer A. Doudna, «for the development of a method for genome editing», we publish here a novel Commentary on how advanced genetics intertwines with clinical medicine to make a better diagnosis. The author, a distinguished woman and Venezuelan scientist, Dr. Janet Hoenicka, a graduate of Simon Bolivar University (1987) and Ph.D. at Universidad Autónoma de Madrid (1994), with a longstanding career in genomics and genetics that spans from unicellular organisms like yeasts to several human illnesses, such as neuropsychiatry and degenerative disorders. Dr. Hoenicka shares with CientMed her extensive knowledge and first-hand experience on how so-called translational and/or precision medicine, help the clinician to bridge first-rate science with genetic diseases. Her lesson is crystal clear, «Translational research fosters the rapid flow of science into the clinical setting by transforming clinical problems into scientific questions that offer scientific solutions for novel diagnoses and treatments.» Moreover, she defines the term precision medicine to include, «…a complete integration of the information of clinical signs and symptoms with the genetic, genomic, epigenomic, transcriptomic, proteomic and metabolic profiles of each person within the ecosystem where he lives and develops. This article focuses on the problem of diagnostic deficit, and how translational research and genomic medicine are helping to achieve diagnoses by designing and applying new technologies/methods that are improving the scope of clinical genetics.» With these statements and clear objectives achieved with utmost clarity by Dr. Hoenicka´s piece, the prescient words of Bachiller, R. Rangel, a century ago, come to life as he then predicted the future of current medicine with these celebrated words to the medical students of The Hospital Vargas, in 1906: «I do not understand, how by a kind of aberration of the spirit, at the present time, there are those who contest the experimental investigations as unnecessary for the physician.”

Dr. Janet Hoenicka

Dr. Janet Hoenicka, born in Caracas, Venezuela, is a biologist from Universidad Simón Bolívar (1987). Under the direction of Prof. Antonio Jimenez Martínez, she obtained a Ph.D. degree in Biological Sciences at Universidad Autónoma de Madrid (1994) and also participated in the sequencing project for yeast chromosome III, the first eukaryotic chromosomal sequence in history (Nature 1992; 357:38- 46). In her first years as a postdoctoral researcher she joined the Molecular basis of inherited metabolic disorders laboratory of Prof. Magdalena Ugarte at Centro de Biología Molecular Severo Ochoa, to later on began her research career in molecular studies of neuropsychiatry disorders at Universidad Complutense de Madrid, and Hospital 12 de Octubre under the guidance of Prof. Justo García de Yébenes and Prof. Tomás Palomo. She investigated the genetics of neurodegenerative disorders, specially Parkinsons’ disease and parkinsonisms (Ann Neurol 2004; 55:164-73). One of her main scientific interest is to elucidate the role of the ANKK1 protein in vulnerability to neuropsychiatric disorders and its relationship with neurodevelopment. The research work includes the study of genes in patients (British Journal of Psychiatry 2008; 193:121-5, awarded) and, in animal and cell models, the pathophysiology of the genetic findings they have generated (Cerebral Cortex 2017; 27(5):2809-2819 / Biological Psychiatry 2010, 67(1): 3-7). She is currently a senior researcher at the Sant Joan de Déu Research Institute, where she coordinates the Neurogenetics and Molecular Medicine Research Group https://www.irsjd.org/es/investigacion/17/neurogenetica-y-medicina-molecular. She also participates in the Pediatric Institute for Rare Diseases (IPER) at Hospital Sant Joan de Déu as head of functional genomics studies in the program of undiagnosed diseases.


https://doi.org/10.47449/CM.2020.1.1.17

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