Fighting the Rare: a documentary on the importance of biomedical research to find treatments for rare diseases.
Fighting the Rare is a glimpse into research on Lafora disease, a rare neurodegenerative condition, through the testimonies of researchers, patients and their relatives.
Rare diseases are a diverse group of pathologies that have as their common denominator their low incidence: each one affects 5 or less out of every 10,000 people. Although the number of patients with each disease is low, together they represent a very large group. Many of these diseases are serious, chronic and disabling pathologies that very often go undiagnosed due to their complexity and ignorance of their existence. Once diagnosed, many patients do not have any treatment available or, if they do have one, it is not effective. Having efficient and safe treatments is an urgent goal of research on rare diseases.
-Between 6,000 and 8,000 rare diseases have been described, mostly genetic diseases
-Between 6% and 8% of the population has a rare disease
-300M people in the world have a rare disease
Lafora disease is a rare neurodegenerative condition that most commonly starts as epileptic seizures in adolescence that progress rapidly with a severe neurodegeneration. The extent of the disease is devastating. Although the child is born with Lafora, the disease typically does not manifest itself until adolescence. Children grow up normally, with no perceivable problems until they begin to suffer with seizures. That is one of the cruelest things about Lafora. A normal, beautiful and apparently healthy child who has everything to live for is faced with nothing more than a “death sentence”. Therapy is primarily palliative and aimed at reducing seizures. From manifestation, which is normally the first seizure, a Lafora patient will die typically within 10 years. Currently, there is no cure for this devastating disease.
More information: https://chelseashope.org/
Fighting the Rare has been done with the participation of international experts that have had a key role in the research on Lafora disease:
(in order of appearance)
Dr. Jordi Duran - Institut Químic de Sarrià, Barcelona
Dr. Berge A. Minassian - University of Texas Southwestern Medical Center, Dallas
https://profiles.utsouthwestern.edu/profile/163575/berge-minassian.html
Dr. José María Serratosa - Instituto de Investigación Sanitaria F. Jiménez Díaz, Madrid
https://www.fjd.es/es/cuadro-medico/jose-maria-serratosa-fernandez#S_INVESTIGA_DOCENCIA
Dr. Matthew S. Gentry - University of Florida, Gainesville
https://biochem.med.ufl.edu/profile/gentry-matt/
Dr. Joan J. Guinovart - Institut de Recerca Biomèdica, Barcelona
https://www.irbbarcelona.org/en/research/joan-j-guinovart
Dr. Salvador Borrós - Institut Químic de Sarrià, Barcelona
https://www.iqs.edu/en/dr-salvador-borros-gomez
Dr. Cristina Fornaguera - Institut Químic de Sarrià, Barcelona
This project was born from the collaboration between two brothers (Jaume and Jordi Duran) from completely different fields.
Jordi Duran: co-creator, screenwriter, interviewer and narrator voice.
Dr. Jordi Duran (www.drjordiduran.com) is a biomedical researcher that has devoted his investigations to the study of the brain and its alterations in conditions like Lafora disease. Over the past decade, Dr. Duran and team have helped resolve important issues in the pathology of the disease, paving the way for the design of future treatments.
Jaume Duran: co-creator, film director and screenwriter.
Dr. Jaume Duran is a film professor at the University of Barcelona and collaborates in others centers (ESCAC-UB, ENTI-UB, LS-URL, CITM-UPC). He has made several cinematographic publications and directed several audiovisual productions.
César Valdivia: cameraman, sound engineering and editor.
César Valdivia is a freelance video editor who has edited shows and documentaries for TV channels like Netflix, TV3, TVE, Al Jazeera and Bein Sports, as well as corporate videos and shortfilms for video production studios.
Patient Worthy https://patientworthy.com/2023/08/04/fighting-the-rare-documentary-lafora-disease-research/
Dementia Alliance International https://dementiaallianceinternational.org/blog/childhood-dementia-fighting-the-rare-documentary-lafora-disease
Spotify podcast https://open.spotify.com/episode/4AiVWipcGreM64QcsVKg8Q
La Cinemoteka https://twitter.com/FightingTheRare/status/1677994096013594625?s=20
Global Genes https://globalgenes.org/community-event/fighting-the-rare-rare-disease-documentary-premiering-june-26/
CheckRare https://checkrare.com/fighting-the-rare-lafora-disease-documentary/
Rare Revolution Magazine https://x.com/RareRevolutionM/status/1709222156993794337?s=20
Epilepsy Sparks https://www.torierobinson.com/epilepsy-sparks-insights/jordi-duran-lafora-diesease
Certamen Raras https://certamenraras.com/certamen-de-cortometrajes-2023/?contest=video-detail&video_id=20060
Epilepsy Foundation Los Angeles https://twitter.com/EpilepsyFdnLA/status/1673420959414382599?s=20
IRB Barcelona https://twitter.com/IRBBarcelona/status/1673222625303097345?s=20
IQS Barcelona https://www.iqs.edu/ca/noticia/iqs-presenta-lestrena-dun-documental-unic-sobre-la-recerca-en-malalties-minoritaries
IBEC Barcelona https://ibecbarcelona.eu/fighting-the-rare-es-el-documental-que-defensa-la-investigacio-en-malalties-rares/
Universitat Ramon Llull https://www.url.edu/es/sala-de-prensa/agenda/cultura-y-ocio/2023/estrena-del-documental-fighting-rare-lluitant-en-minoria
University of Florida https://biochem.med.ufl.edu/2023/06/28/fighting-the-rare/
Chelsea’s Hope https://chelseashope.org/fighting-the-rare-documentary/
Dazzle4Rare https://twitter.com/dazzle4rare/status/1671439197159272449?s=20
FECAMM https://twitter.com/InfoFecamm/status/1670684548202393600?s=20
Beacon for Rare Diseases https://www.instagram.com/p/CtPKzlPrxqj/?utm_source=ig_web_copy_link&igshid=MzRlODBiNWFlZA==
Catalunya Religió https://www.catalunyareligio.cat/ca/iqs-presenta-documental-unic-sobre-recerca-en
Patient 73 https://patient73.org/news/6499ba57b03700008f007a48
Fighting the Rare has been selected for the Love & Hope International Film Festival (L'HIFF) - September 2024
Fighting the Rare finalist in the ONIROS Film Awards - December 2023
Fighting the Rare finalist in the Fourth edition of the New York City International Films Infest festival (NYCIFIF)
Hear of the ultra-rare, devastating, terminal epilepsy Lafora Disease and the exciting research taking place to try and improve and save the lives of the children affected.
https://www.youtube.com/watch?v=M6-GW-VfVJo
https://www.torierobinson.com/epilepsy-sparks-insights/jordi-duran-lafora-diesease
Fighting the Rare is now also available at The Disorder Channel, which features documentaries and films about rare diseases.
The Disorder Channel is available via Roku or Amazon Fire TV.
EURORDIS shares the stories of Robin and Angelina, two patients of Lafora disease, and highlights Fighting the Rare
Blog on Fighting the Rare and Lafora disease by Niki Markou Dementia Alliance International
Podcast on the challenges funding rare disease research, Lafora disease and Fighting the Rare VibeCast Ep 19
Jaume Duran has been interviewed to discuss Fighting the Rare (in spanish) in La Cinemoteka (min. 65:05)
Fighting the Rare in the news La Vanguardia
Interview by CheckRare. Dr. Jordi Duran and Niki Markou discuss the documentary Fighting the Rare and the symptoms and pathophysiology of Lafora disease.
Recording and editing sound at ENTI-UB
Shooting Fighting the Rare at IRB Barcelona
Shooting Fighting the Rare at the Lafora disease International Symposium.
