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Antioxidants Webinar | Challenges of CoQ10 Deficiency in Diagnostic, New Models of Disease and Therapy

5 May 2022, 14:00 (CEST)

Coenzyme Q10 Deficiency, Mitochondrial Dysfunction, CoQ Determination In Human Samples, CoQ Biosynthesis Technologies, Cellular and Animal Models
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Welcome from the Chair

1st Antioxidants Webinar

Challenges of CoQ10 Deficiency in Diagnostic, New Models of Disease and Therapy

On behalf of my guest co-editor, Carlos Santos-Ocaña, it is my great pleasure to welcome you to this webinar on “Challenges of CoQ10 Deficiency in Diagnostic, New Models of Disease and Therapy”. I am very glad to serve as the Chair for this webinar in Honor of Prof. Placido Navas on the occasion of his appointment as a Chair in the International Association of CoQ.

Prof. Navas played a pioneering role in basic research in CoQ deficiencies, and his work is international referenced in the investigation of this molecule. Over the years, he has moved from basic research to the biochemical and molecular diagnosis of CoQ deficiencies in pediatric and adult patients.

It has been my pleasure and honor to collaborate with Prof. Navas in the elucidation of the molecular bases of CoQ deficiency syndromes.

Dr. Rafael Artuch

Date: 5 May 2022

Time: 2:00 pm CEST | 1:00 pm BST | 8:00 am EDT | 8:00 pm CST Asia

Webinar ID: 874 8424 2809

Webinar Secretariat: antioxidants.webinar@mdpi.com

Chair

Centro de Investigación Biomédica en Red (CIBER) de Enfermedades Raras (CIBERER), Madrid, Spain

DETAILS
Bio
Dr. Rafael Artuch (MD, PhD), has developed his career in Hospital Sant Joan de Déu and its associated research Institute, in Barcelona, Spain. In 1990 he got the degree in Medicine, in 1996 the title of specialist in Clinical Biochemistry and in 1998 the PhD title in Medicine about the biochemical basis of mitochondrial disorders. His career has been developed in the field of inborn errors of metabolism by studying the biochemical and molecular basis of these disorders, having remarkable experience in biomarker validation for both diagnosis and treatment monitoring and identification of new genes associated with human diseases with 300 indexed in PubMed. One of the main focus in his research is the biomedical aspects of Coenzyme Q10 deficiency. Dr. Artuch is coordinating a research program inside the scientific network CIBERER (program of metabolic and mitochondrial medicine) and in January 2022, he is the chairman of the Executive Committee of ERNDIM, the largest external quality control scheme program for laboratories working I the diagnosis of inborn errors of metabolism.

Invited Speakers

Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padova, Padova, Italy

DETAILS
Bio
Dr. Salviati's research has focused on the molecular bases of neurometabolic disease, in particular mitochondrial disorders. His group is currently elucidating the genetics of the CoQ biosynthetic pathway in humans and the molecular bases of CoQ deficiency and of cytochrome c oxidase defeciency. He has co-authored over 130 articles published in international peer reviewed journals with a total IF over 800 and Hindex= 44. He has been awarded grants from both national and international institutions for a total of over € 2 M.

Department of Neurology, Columbia University Medical Center, New York, NY, USA

DETAILS
Bio
Dr. Hidalgo (PhD) is a Postdoctoral Researcher Fellow at Columbia University Irving Medical Center (CUIMC) of Columbia University (CU) in New York, where he studies the pathomechanisms and possible therapies of different kind of mitochondrial diseases, under the supervision of Dr. Michio Hirano. Dr. Hidalgo completed his biological studies at the Universidad de Granada (2014). After that, he obtained his Master degree and Ph.D. degree in Biomedicine (Cum Laude) at the Universidad de Granada (2020) under the supervision of Professor Luis Carlos Lopez. During his doctorate he studied a mitochondrial encephalopathy associated with Coenzyme Q deficiency and managed to completely reverse the pathological characteristics of the disease, using a new alternative therapy based on the bypass of the molecular defect. Besides, since 2015 he taught physiology in Medicine, Nursery and Physiotherapy bachelor degrees at the Universidad de Granada. He carried out several research stays at different international institutions, including the University of Nottingham, Utrecht University and Columbia University. During his career, he has obtained different fellowships and awards at a national and international level, such as from the Spanish Ministry or the European consortium, to develop his investigation. Actually, his scientific interest is to better understand the mitochondrial diseases focusing on the metabolism of mitochondrial DNA. For that purpose, he studies the effect of mutations in different proteins that are involved in the synthesis of nucleotides.

School of Pharmacy and Biomolecular Sciences, Liverpool John Moores University, Liverpool, UK

DETAILS
Bio
Dr. Iain P. Hargreaves has worked in the field of metabolic disease for 27 years and holds a Readership in clinical biochemistry at Liverpool John Moores University and an honorary consultant clinical science position at the Neurometabolic Unit, National Hospital, University College of London Hospitals, UK. He has published over 130 papers which cover coenzyme Q10 metabolism, mitochondrial dysfunction, oxidative stress and therapeutic strategies for treating mitochondrial disease. In addition, Dr. Hargreaves has published 2 books, the latter book, entitled ` mitochondrial respiratory chain disorders` will be used as a suggested reference for some of his proposed undergraduate/graduate student lectures. Within the UK, Dr. Hargreaves established the only coenzyme Q10 diagnostic service in 2000 and ran the biochemical mitochondrial disease service in London from 2009-2016 before he moved to Liverpool John Moores to begin full time lecturing and research. Dr. Hargreaves has presented his research work at a number of international meetings throughout Europe and the USA.

Webinar Content

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Registration

This is a FREE webinar. The number of participants to the live session is limited but the recording will be made available on Sciforum shortly afterwards. Registrations with academic institutional email addresses will be prioritized.

Certificates of attendance will be delivered to those who attend the live webinar.

Program

Speaker/Presentation

Time in CEST

Time in BST

Time in EDT

Dr. Rafael Artuch

Chair Introduction

2:00 - 2:10 pm

1:00 - 1:10 pm

8:00 - 8:10 am

Dr. Leonardo Salviati

Molecular Diagnosis of Primary and Secondary CoQ Deficiencies

2:10 - 2:30 pm

1:10 - 1:30 pm

8:10 - 8:30 am

Dr. Agustin Hidalgo-Gutierrez

b-RA, CoQ Metabolism and Adipogenesis

2:30 - 2:50 pm

1:30 - 1:50 pm

8:30 - 8:50 am

Dr. Iain P. Hargreaves

Biochemical Aspects of CoQ Deficiency

2:50 - 3:10 pm

1:50 - 2:10 pm

8:50 - 9:10 am

Q&A Session

3:10 - 3:25 pm

2:10 - 2:25 pm

9:10 - 9:25 am

Closing of Webinar
Dr. Rafael Artuch

3:25 - 3:30 pm

2:25 - 2:30 pm

9:25 - 9:30 am

Relevant SI

Challenges of CoQ10 Deficiency in Diagnostic, New Models of Disease and Therapy
Guest Editors: Dr. Rafael Artuch & Prof. Dr. Carlos Santos-Ocana
Deadline for manuscript submissions: 20 October 2022

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