In this section we will keep you updated of all the advances that occur in our laboratory
Rare Disease Day – 28 February 2023
Feb 28, 2023
Hello everyone! For the international day of Rare Diseases, we want to leave you here a video (with subtitles) in which we explain how we study rare diseases in our laboratory. We hope you like it 🙂
Mitocure – EECURE Project – Personalized precision medicine in Ethylmalonic Encephalopathy
Feb 24, 2023
Hello everyone! We are happy to announce that we have opened a new research project on precision medicine in Ethylmalonic Encephalopathy in our laboratory with the collaboration and funding of “TODOS CON ADÁN, Afectados de Encefalopatía Etilmalónica” Association. More information about this rare metabolic disorder is available in the projects section of our website.
Mitocure – PACURE Project – Personalized precision medicine in propionic acidemias
Feb 22, 2023
Hello everyone! We would like to announce that we have opened a new research project on precision medicine in propionic acidemias in our laboratory. More information about the project in the images below and in the projects section of our website.
Talk about Precision Medicine in Rare Diseases | Conferecence by our IP Dr. José Antonio Sánchez-Alcázar
Oct 14, 2022
Hello everyone! We leave you a link to the talk given by our IP Dr. José Antonio Sanchez Alcázar about the Precision Medicine that we carry out in our laboratory at the IX International Congress “Progress in diagnosis and treatment of autism and epileptic encephalopathies” organized by the West Syndrome Foundation. His speech starts at minute 44:30 and ends at 1:23:50. We hope you enjoy it!
Mitochondria week! | Conferecence by our IP Dr. José Antonio Sánchez-Alcázar
Sept 23, 2022
Hello everyone! We leave you a link to the talk given by our IP Dr. José Antonio Sanchez Alcázar for the Mitochondria Week organized by the University of Buenos Aires (FCEN-UBA). In this conference he spoke about the #MitochondrialDiseases that we investigate in our laboratory and the latest results that we have obtained!
Sept 27, 2022
Last Monday our colleague Marta Talaverón gave a talk at our research center (CABD-meetings) to talk about the latest results of her thesis project on PKAN and Friedreich’s ataxia (FRDA). These results will be published soon.
New article published! ‘Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels’
Aug 9, 2022
This article is part of the Braincure project, which aims to find treatments for patients with
In this article, we present several commercial supplements (pantothenate , panthetine, vitamin E, omega 3, carnitine and thiamine) that are capable of eliminating the pathological alterations present in the cells of patients with Pantothenate kinase-associated neurodegeneration (PKAN), such as the iron accumulation.
This article is an example of the precision medicine that we carry out in our lab. We hope you like it and, of course, that it will be of great help to patients 🙂
MELAS syndrome – Modeling Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome Using Patient-Derived Induced Neurons Generated by Direct Reprogramming
July 19, 2022
Last Tuesday our colleague Suleva Povea gave a talk at our research center (CABD-meetings) to talk about the latest results of her thesis project on MELAS syndrome. These results have been recently published in the journal Cellular Reprogramming, here is the link.
Rare Diseases and Potential Therapies | Interview with Dr. José Antonio Sánchez-Alcázar
July 19, 2022
Hi everyone! We leave you the link of the interview given by our IP Dr. José Antonio Sánchez Alcázar for the Scholarly Community Encyclopedia talking about the work of our research group in #RareDiseases and #PersonalizedMedicine.
Our MYOCURE PROJECT was present at Scifam22
July 1, 2022
Our colleague Rocio Piñero gave a talk about our research project for nemaline myopathy disease at Scifam22 (Nashville, TE).
Scifam22 is a four day neuromuscular conference for stakeholders in congenital muscular dystrophy, nemaline myopathy, and titin-related disorders. This experience was very valuable and enriching since it allowed us to learn about all the new advances in research into the disease, present the research project that we are carrying out in our laboratory thanks to funding from the Yo Nemalínica association, and meet experts and families of patients.
KAT6A and KAT6B Conference sponsored by the KAT6A Foundation
June 15, 2022
Here we leave you the link to the conference given by our laboratory colleague Manuel Munuera, who is doing his doctoral thesis in precision medicine for the KAT6A syndrome, at the KAT6A and KAT6B Conference sponsored by the KAT6A Foundation that took place in Baltimore (USA) last June 4. We leave you the link of the video in English (first link) and in Spanish (second link).
We start a new research project in our lab!
June 15, 2022
Hello everyone! We are very happy to announce that we have started a new research project in our laboratory: the NEK8 Project, with funding from Una Vida Para Mateo, a 2-year-old boy with two mutations in the NEK8 gene. Mateo’s cells are already growing in our laboratory. The purpose of this project is to study fibroblasts from patients with mutations in the NEK8 gene with the aim of finding effective pharmacological compounds. From here, we invite you to visit his website to learn about his story and collaborate with them. This is the link to the Family’s website, where you can collaborate through donations or through its charity shop. Also, if you want to know more about mutations in the NEK8 gene, you can visit the Projects section of our website.
As always, we will put all our hearts into our work to be able to give good news as soon as possible.
Our group photo has been updated!
June 1, 2022
This is us! To get to know us a little more you can visit our ‘Team’ section
New article published! ‘Pterostilbene in Combination With Mitochondrial Cofactors Improve Mitochondrial Function in Cellular Models of Mitochondrial Diseases’
March 18, 2022
Our new article ‘Pterostilbene in Combination With Mitochondrial Cofactors Improve Mitochondrial Function in Cellular Models of Mitochondrial Diseases’ has just been published!
This article is part of the Mitocure project for Mitochondrial diseases. In this article, we demonstrate how the compound pterostilbene (a resveratrol analogue) in combination with a mitochondrial cocktail consisting of: pterostilbene, nicotinamide, riboflavin, thiamine, biotin, lipoic acid and L-carnitine, improves the pathological alterations found in fibroblasts derived from patients and induced neurons.
Happy International Women’s Day! 8M
March 8, 2022
Most of our research team members are women, meet them in this photo! We also leave you the video we created to celebrate the International Day of Women and Girls in Science.
11F Video – International Day of Women and Girls in Science
February 28, 2022
There was no better day to publish our website than today (February 28), World Rare Disease Day, Diseases we fight against in our laboratory! We leave you a video where you can meet some members of our research team!
From Sánchez-Alcázar’s lab we fight against rare diseases!