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#RARETalk Digest )

During this year, we have collected so many interesting stories on the #RARETalk chat series. #RAREvolutionary people with different backgrounds (patients, researchers, patients’ relatives), have shared with our Community their daily challenges to change the rare diseases scenario.

Now, it’s time to relive together the highlights of our guest’s experiences. We have summarized the main take-aways of each monthly #RARETalk, to stress the attention on the powerful words and suggestions of our guests. If you missed some of our #RARETalks, this is the occasion to catch up on the reading.

Drs. Alex MacKenzie's and Kym Boycott

Clinician scientists at the Children’s Hospital of Eastern Ontario Research Institute in Canada

  • Kym and Alex projects analyzed 3,000 patients and family members to study 815 rare diseases providing a diagnosis for more than 1,000 patients with the identification of 110 novel rare disease genes.

  • Dr. MacKenzie is among the first signers of the #RAREvolution Petition. In a comment to the petition he said: “rare diseases in aggregate represent one of humanities greatest unmet medical and societal needs”.

  • They believe that thoughtful engagement of impassioned and engaged families in the health research field will be critical for success.

 

Dr. Daria Julkowska

E- Rare Coordinator

  • As E-Rare Coordinator, Daria co-organised together with the BLACKSWAN Foundation the RE(ACT) Congress, that she has described has a wonderful place to enhance networking, present results and discuss topics that are common for all domains of rare disease research.

  • She thinks that digital media are part of our lives and often play important role for patients but also new generation of researchers. Platforms like RE(ACT) Community can help the connection with the different stakeholders. The transmission of information is part of mutual learning process, which helps in accelerating research.

  • She reminds that every contribution is important. Rare diseases community is a very special place built by passionate people.

 

Aldo Soligno

Documentary Photographer

  • Aldo started the Rare Lives Project, a journey across Europe to photograph rare diseases patients. They represent a minority he wanted to give a voice to.

  • His project has received positive feedbacks and messages from patients’ relatives who have been stimulated by his shots to react and to find new possibilities to better deal with a rare disease.

  • He believes that supporting research really means saving lives and this is what people actually need to understand.

 

Karen Aiach

Founder and CEO of Lysogene

 

  • Karen started her own company - Lysogene in 2009 - to develop a gene therapy treatment with the help of Olivier Danos, the former Director of one of Europe’s top gene therapy labs, who is now CSO at RegenXBio.

  • She believes that rare diseases open the way for therapeutic innovation and this innovation is likely to expand to numerous other diseases.

  • She has learnt to share that experience with others; she tries as much as possible to respond to speaker invitations to share the Lysogene and also her own personal story with different audiences.

 

Valentina Tomirotti

Italian Journalist

  • Valentina has participated in the Boudoir Disability project, born in 2016. The photo’s shoots she is the protagonist of have the objective to enhance women’s beauty and uniqueness, addressing the issue of sensuality, often censured in people with disability.

  • She believes in the Internet power, but she thinks that there is no full awareness of the extent of this tool. In her opinion, social media should be used to increase awareness and to talk about serious issues.

  • She has a project in mind that she wants to propose to the Administration of the City of Mantova. It is an online map of all the accessible and non-accessible places, which has the aim to draw up documents useful to simplify the Administration’s work and to create safe places for people with disabilities.

Christine Revkin

Member of the International FOXG1 Foundation

  • Christine started on the RE(ACT) Community a crowdfunding campaign called “A Glimpse of Hope for FOXG1” together with Professor Alessandra Renieri, from Siena University.

  • She gathered 8K building awareness and mobilising families and friends, but that was far from being enough. Luck was the key to success as without that solid base and the validation of the project by the RE(ACT) Scientific Board, she probably wouldn’t have triggered the interest of two Swiss organisations who agreed to cover the bulk of the amount.

  • She describes the RE(ACT) Community as THE place that made the most sense. The scientific board has validated the quality of the project and done all the paper work & follow-up on milestones.