Judith Armstrong Morón

Biography

 Dr. Armstrong has been fully trained in the field of Neurogenetics and hereditary neurological diseases. She begun her studies of Fragile X syndrome and she worked one year in John F. Kennedy Instituttet Laboratory, Denmark under the direction of Dr. Grønskov, where she obtained the degree of Master in Experimental Genetics (1998-1999). She completed her PhD training on the study of Rett's syndrome in Hospital Sant Joan de Deu of Barcelona, ​​under the direction of Dr. Monrós (1999-2003), and she worked in the Bank of Neurological Tissue DNA ICS Institute of Neuropathology (2003-2007), at the Hospital de Bellvitge, under the direction of Dr. Ferrer and Dr. Volpini. She is a facultative assistant in the Section of Genetics and Molecular Medicine - Hospital Sant Joan de Deu de Barcelona since 2008; and she is a member of the group CIBERER U-703 (PI: Dr. Artuch), responsible of the research and molecular diagnostics of Rett's syndrome and Neurometabolic diseases."Rett's Syndrome" group - Hospital Sant Joan de Déu - is a reference center at the national level; both at clinical and molecular levels and Dr. Armostrong together with Dr. Pineda have registered more than 500 patients with Rett's Syndrome, with clinical and genetic diagnosis confirmed. Since the discovery that mutations in the MECP2 gene caused Rett's Syndrome (October 1999), their laboratory has diagnosed samples from all our country and abroad (Chile, Argentina, Czech Republic, Turkey, Israel, etc.). Currently, they perform the molecular diagnosis of all genes that are likely to cause Rett's Syndrome (MECP2, CDKL5 and FOXG1), using a wide variety of diagnostic techniques (NGS, Sanger, MLPA PCRq, etc.). Now, she has a FIS national grant for the study of patients with Rett's Syndrome lacking of genetic diagnosis (PI15 / 01159: Clinical and molecular characterization of Rett's syndrome: elucidating the unresolved cases (2016-2018).

Research Interest

 he completed her PhD training on the study of Rett's syndrome in Hospital Sant Joan de Deu of Barcelona, ​​under the direction of Dr. Monrós (1999-2003), and she worked in the Bank of Neurological Tissue DNA ICS Institute of Neuropathology (2003-2007), at the Hospital de Bellvitge, under the direction of Dr. Ferrer and Dr. Volpini.