Roseline Favresse
I am a Research Policy and Initiatives Director at EURORDIS, Rare Diseases Europe. Since 2019, I have been involved in the development of several MOOCs as part of the EJP RD.
Location France
Activity
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@BrendanDunphy sorry for the late reply. Results are being processed at the moment. They will be communicated in the next months. I encourage you to check this webpage on a regular basis: https://www.eurordis.org/rare-barometer/english/#surveyResults
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thank you @RayanBou-Fakhredin for your feedback. Indeed, data (access, sharing, collection, etc.) are critical when it comes to rare diseases and you are right underlying that it is a key component of any research and further collaboration.
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good morning @LiborioPazQuiñones ! Welcome on board for this course!
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@EnricoAmbrosini thank you for your feedback. Don't hesitate to use them in your daily practice in case they may be useful.
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@OliviaKEROUREDAN thanks a lot for this very positive feedback!
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Roseline Favresse replied to Houssem Abida
welcome @HoussemAbida ! Looking forward to your questions in the next steps of the course!
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Roseline Favresse replied to Enrico Ambrosini
Thank you @EnricoAmbrosini for highlighting these resources: MasterMind https://mastermind.genomenon.com/ and Franklin https://franklin.genoox.com/clinical-db/home. And thank you for sharing your views!
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Roseline Favresse replied to Hilary Joyce
Welcome @HilaryJoyce and thank you for sharing your experience!
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@ColletteMcgahen thank you for the positive feedback!
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thank you for this nice summary @ColletteMcgahen and well done for completing all these steps already!
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thank you @JessicaBrocklebank indeed you are right. Thanks for spotting this typo mistake :-). We will fix it.
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yes @HellePatterson and it could unfortunately even be a lot more expensive. Definitely, it will be a hot issue with more treatments coming to the markets in the next year. You may be interested in having a look at this recent study about the economic burden of rare diseases:...
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Roseline Favresse replied to Maheen F
Hello @MaheenF and welcome to the course! We are glad to have you here and we hope you will enjoy it.
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@MiguelAngelNoriegaJuárez this is extremely clear, thanks a lot!!
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Hi @AnaMariaRamirez-Scarlett it stands for iron overload disease. More information can be accessed here: https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/iron-overload
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thank you for sharing your views @AnaMariaRamirez-Scarlett I am sure some of our mentors who are geneticists may want to share their perspective about the complexity of their work.
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Roseline Favresse replied to Godfred Oduro
thank you @GodfredOduro for sharing your views.
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hello @AnaMariaRamirez-Scarlett it stands for Comparative Genomic Hybridization.. A useful link if you also want more info: https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/comparative-genomic-hybridization
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yes @YinebebTamiru you are rightly pointing out that rare diseases are not an homogeneous concept. Some rare diseases are now well diagnosed and in some cases (not most of them as you will read in this step and the next ones) there is a treatment. But some still remain undiagnosed despite technological recent advances (we will come back to the research options...
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Roseline Favresse replied to Yinebeb Tamiru
@YinebebTamiru thank you for sharing. You are summarizing well some of the challenges and difficulties met when diagnosing rare diseases. But it is not because we don't have all the answers nor the appropriate care for the moment that we shouldn't advance on the diagnosis' side (because it will be the driver for the rest).
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thank you @HabeebaSameh for sharing. OMIM is indeed a great resource.
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Thanks @PrimroseMusiyandaka for sharing this publication!
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@PrimroseMusiyandaka yes, you are absolutely right. Scarcity remains a challenge. Nevertheless, promising approaches also lie with AI and symptoms checker tools.
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@HellePatterson it might also be that we need to increase our readability level for some concepts (we are working on it for the next session). And congrats, you made it till the end of the week!!
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thank you @PrimroseMusiyandaka and don't hesitate when you have time to also dive into the other trainings provided by EJP RD and the European Reference Networks. I am sure you will enjoy them.
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Thank you @AgneseFeresin for your positive and detailed feedback! We were happy to count you amongst the learners of this session!
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thanks for your feedback @HAMOODA !
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thank you @DanielaRegazzo for your feedback; it helps us to know who are our learners. Indeed, the course may be useful for a wide range of stakeholders.
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thank you @RaquelRosario-Beltre for this feedback.
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thank you @PageneckChikondowa for sharing your enthusiasm and your reflection.
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thanks a lot for your positive feedback @SaraVencato !! We hope to see you again for the next EJP RD online courses later this year (one on translational research and one on innovative personalized therapies).
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Roseline Favresse replied to Sophie Ripp
Good morning and welcome @SophieRipp ! We look forward to hearing from you in the next steps and hope the MOOC will be useful in your new position's onboarding.
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Roseline Favresse replied to Helle Patterson
thank you @HellePatterson for sharing your thoughts and indeed, the field of genetics has been booming! we already see that our MOOC will need to be updated quite soon with regard to new developments.
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thank you @HellePatterson for sharing your thoughts and feedback (as well as an efficient analogy with grammar courses :-)
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thank you for your positive feedback @AgneseFeresin !
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Roseline Favresse replied to HAMOOD A
thank you for your feedback @HAMOODA and your active participation to the course!
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thank you @PrimroseMusiyandaka for sharing your thoughts and this nice summary of their activities.
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Thanks a lot for your feedback @SilviaCerolini We are working on this and will include new videos in week 4 and 5 in particular in the next sessions of the MOOC.
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Roseline Favresse replied to Tinotenda Magogo
Welcome @TinotendaMagogo ! We hope you will enjoy the MOOC and look forward to your comments and feedbacks in the next steps.
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thanks for pointing out Findzebra @MartaCampabadal !!
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Roseline Favresse replied to Anika H
hi @AnikaH this is great to have you with us for this course and we really congratulate you for your drive and methodology in choosing your undergraduate course!
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thank you for your positive feedback @AnaMariaRamirez-Scarlett Peer-to-peer learning is indeed very positive. Do not hesitate to feedback any comment to encourage or increase this.
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thank you @VincentNyangwara for stressing this! And we can also add to this statement that the collaboration with the patients is also key to make personalized medicine really happen.
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hello @HellePatterson do not worry at all, the course is indeed increasingly more complicated as weeks go. If you are struggling with weeks 3 and 4 which are the heaviest and more dense, have a look at week 5 where we open up the reflection to some other related-topics and where you may find interesting and maybe a bit less technical information. And to not...
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Roseline Favresse replied to Ana Pataki
Hello @AnaPataki ! Great to see you here! We look forward to your feedback and your questions in the next steps of the course. And congratulations for all what you have been doing and still do for the RD community!
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@HellePatterson so sorry, I think this is the only one audio recording from the whole course without any transcript. Thanks for spotting this, we will add the transcript to the next session. In the meantime, I may advise you to listen to the recording through your phone (I know this may not be ideal but usually FutureLearn is quite accessible also via phone -...
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@SangeethaGangadharanPillaiSanthamma thanks a lot for the feedback. We really value all your feedbacks. Please keep giving feedback in the next steps, even for improvements' proposals or things you would have preferred introduced differently.
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Hi @PageneckChikondowa interesting point that you raise and that we also discussed in previous sessions of the MOOC. Enhancing the diversity of populations involved in genomics research is definitely a challenge AND the way forward. You may be interested in reading this nice summarized overview from the NIH:...
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@PrimroseMusiyandaka don't worry, it was the heaviest week! Great you made it to the end and congrats! Week 4 and week 5 are equally interesting but less packed :-) Looking forward to seeing you in the next weeks' steps.
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@RaquelRosario-Beltre thank you so much for your feedback, we will share it with the team who participated in the writing of the different scenarios.
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Roseline Favresse replied to Helle Patterson
@HellePatterson thank you so much for your testimony and expressing your feelings. What you mention about the burden of guilt is something that is certainly resonating for many of us.
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Roseline Favresse replied to HAMOOD A
glad that you find it useful @HAMOODA !
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yes, absolutely @TinatinTkemaladze It is always important to remind it because sometimes it may look like in the media that AI will solve it all by itself but without primary good clinical data and well phenotyped patients, the best machine and algorithm wouldn't be helpful.
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hello @MariaGomez yes, you are right, orphan drug legislation is definitely not in place everywhere in the world nor the availability of some treatments nor the diagnostic care pathway. This course having been developed essentially by Europeans and as part of an European project, challenges encountered in other regions of the world may not be fully covered. We...
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@StefanieBug-Tönnies thanks a lot for your participation and several additional explanations you are providing to all in different comments. We do appreciate!
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hi @MaryMorlino and glad that you enjoyed it!
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@AgneseFeresin @StefanieBug-Tönnies @HAMOODA Great comments and interaction! You will learn and read more about deep phenotyping (in connection with deep sequencing) in the next steps and weeks and how clinicians who see the patients remain extremely important - even more now than before the advent of new technologies. More to come :-) and please share again your...
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Roseline Favresse replied to Colin Kelcey
Welcome @ColinKelcey we hope you will find the course interesting and we look forward to your comments in the next steps.
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hello @PrimroseMusiyandaka yes you are right that technology and science have advanced at a fast pace in genetics/genomics and that the diagnostic odyssey is shortening substantially for several rare diseases (we will see in later weeks why it may be easier in some cases than in others).
The latest studies related to time-to-diagnosis still mention that on... -
@AnaMariaRamirez-Scarlett and @ClaytonJohnAxiak I also add this link that I put in another comment as well: https://reconnet.ern-net.eu/disease_eds/
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Roseline Favresse replied to Primrose Musiyandaka
hello @PrimroseMusiyandaka support and advocacy groups of all sizes are doing an impressive work in supporting people living with a rare disease and their families. This is important to have real world data on what it means to have and be living with a rare disease to be able to ultimately have an impact on care pathways, social care, etc. You may be...
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@VardanSaroyan you will see more on this specific topic in Week 3 that is introducing the different available tests to diagnose a rare disease (from 3.2 to 3.11) and giving some examples and contexts for each of the options (even though as you say the assumption may not be confirmed by one test and in that case, a clinical and functional reassessment may be...
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hello @StefanieBug-Tönnies you might be interested in looking at additional trainings as well delivered in the context of the European Joint Programme on Rare Diseases here: https://www.ejprarediseases.org/general-information-training/ and here (where other opportunities for training on rare diseases are also usually flagged):...
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hello @AnaMariaRamirez-Scarlett just to add to previous answers and exchanges that (as a non geneticist and non MD) not all doctors and geneticists are the same (and most would be really humane people, spending hours on their spare time to find solutions). Training has developed a lot as well around the necessity to communicate a diagnosis in the most...
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Hello @AnaMariaRamirez-Scarlett you may already know this resource developed by the European Reference Network (ERN) Re-CONNECT on Ehlers-Danlos: https://reconnet.ern-net.eu/disease_eds/ - https://reconnet.ern-net.eu/patients/ I am sorry as I don't recall from which country you are but if you are in Europe, ERNs are really extremely useful to get information...
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@AbdulrahmanAliyuAdamu and @RomainNicolle actually when we recorded this fictive consultation we thought that it was maybe too straightforward and easy somehow because geneticists did mention that sometimes they need to ask several times similar questions to get the full picture. And as individuals, even if we get prepared before a medical appointment, we are...
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Roseline Favresse replied to Ines Zuther
@InesZuther yes, indeed, week 1 is really an introductory week. This whole MOOC has been conceived as a scalable content, so you might be interested in going directly to weeks 3-5 when some others may stop after week 1. This is perfectly fine anyhow and do not hesitate to suggest any kind of improvements to the course as well.
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thank you for the positive feedback @RaquelRosario-Beltre
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@KamilaZduńczyk yes, definitely the cousin is a boy
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yes, you are right @PageneckChikondowa the few number of patients is definitely one of the main challenges for rare diseases. You will learn more about GWAS in week 4.
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dear @PageneckChikondowa yes, you highlight the importance of having a diagnosis, a name for a disease. We will come back on this at several times during the course.
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Good morning @ADEGBOYEGABABATUNDE I think you are referring to the Crispr-Cas9 technology. So, yes, Crispr could be an option to treat some rare genetic diseases. A number of projects are ongoing (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653884/ - https://www.washingtonpost.com/health/2022/02/05/crispr-rare-diseases/). Be also aware that the European...
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Roseline Favresse replied to Deepthi Abraham
good morning @DeepthiAbraham We are happy to have you here with us and we hope you will find the course interesting and useful in your daily practice. Looking forward to your comments and feedbacks in the next steps of the MOOC.
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Roseline Favresse replied to Vincent Nyangwara
thank you for your feedback @VincentNyangwara
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thank you @RaquelRosario-Beltre for your positive feedback!
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Roseline Favresse replied to Alisar Allan
Good morning @AlisarAllan and glad to have you with us for this MOOC. It should be quite in line with your current training and we look forward to your questions and comments in the next steps.
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yes, indeed @RaquelRosario-Beltre This is addressed in week 5, more as an introduction to be honest, and more research work is needed to better assess this impact as well (see from step 5.15 if you want to have a look now).
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Roseline Favresse replied to Nata Nakaidze
@RomainNicolle @NataNakaidze the term has been increasingly used over the last 7-8 years I would say. I don't know either who first used it but it has been widely disseminated by patient organisations since then.
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Roseline Favresse replied to Marie Tz (Georges)
Great to have you here @MarieTz(Georges) You may have a specific interest in week 5 of the MOOC where we give a brief overview of some topics of peculiar interest for Social Sciences and Humanities researchers. Looking forward to your feedback and comments in the next steps!
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hello @CarleeGilbert you will read more about ultra rare diseases in step 1.16 and you will see that several examples and case studies of the MOOC are actually based on ultra rare diseases.
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Hello @InesZuther yes this patient is real. We have changed her name on her request but her testimony is accurately reflecting what she went through.
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Roseline Favresse replied to Denise Scholtz
hello @DeniseScholtz and glad that you are here. We hope you will enjoy the course and find it useful for your project. Even though we are not addressing rare immune disorders in detail, you should find some useful information.
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Thanks a lot @RaquelRosario-Beltre for these information. If you are not already aware of them, I advise you to look at the RDI network that I already mentioned yesterday. This might be helpful for patient organisations.
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Welcome @RaquelRosario-Beltre we are glad that you are here and we hope you will find useful resources and information for your daily practice. Do not hesitate to ask questions and make comments in the next steps. Our team of mentors will be happy to help.
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Good morning @GabrielaRepetto ! In view of the ERCAL network development, you may find the RDI initiative interesting and useful: https://www.rarediseasesinternational.org/
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Roseline Favresse replied to Sara Vencato
welcome @SaraVencato ! We hope you will enjoy the MOOC and look forward to your comments and questions. You will see that we encompass rare cancers in different steps of the course and given your background, you will certainly find these of peculiar interest.
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Hello @CharlotteBoulton and @EvanGOUY and thank you for highlighting the Rare Disease Day. For those who are less or not aware or familiar with it, here is the link towards the international initiative: https://www.rarediseaseday.org/.
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Roseline Favresse replied to Rasha Kaffas
Welcome @RashaKaffas ! I hope you will enjoy the course. You may already know them but I take the opportunity to share the RDI (Rare Disease International) website with you: https://www.rarediseasesinternational.org/ (we mention them later in the course as well).
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Roseline Favresse replied to Vijay A
Welcome @VijayA ! We hope you will enjoy the course. Please feel free to share comments and questions in the next steps of the course.
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Roseline Favresse replied to Mark Mencias
welcome here @MarkMencias! I hope you will enjoy it.
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Hi @MariaDomenicaSanna did you check OMIM and Orphanet?
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thanks @DovilėKalibatienė yes, it is in beta-test but Orphanet can nevertheless be used through the "search option".
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Roseline Favresse replied to Kate H
thank you for sharing @DovilėKalibatienė
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Hi @DovilėKalibatienė if you know someone who could initiate this in your country, I think SWAN Alliance is providing good advice for new groups and networks in other countries who would like to set up similar initiatives. You may also be interested in looking at UDNI (Undiagnosed Diseases Network International): https://www.udninternational.org
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thank you @DovilėKalibatienė for sharing your views.
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Hello @BarbaraJankowski and welcome to this MOOC! We hope you will enjoy it. Feel free to share your views and ask questions at any stage of the course.
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thank you @DovilėKalibatienė for sharing your views.
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thank you @DovilėKalibatienė for sharing these examples.
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Roseline Favresse replied to Dovilė Kalibatienė
great to see you here @DovilėKalibatienė ! we look forward to your comments!
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yes very true @FlissH this fact is also the reason why funders have put in place specific tracks and programs for rare diseases, such as the EJP RD for instance that runs calls for proposals for researchers which are solely dedicated to rare diseases.
