Donate

Tag: research

  • An important step towards the recognition of SLC6A1 in the ICD-10

    At SLC6A1-Spain we welcome with hope the announcement that the World Health Organization will recognise SLC6A1-associated developmental and epileptic encephalopathy by including it in the ICD-10 classification.

    The ICD-10 is an international classification used to organise and code health diagnoses. The recognition of an SLC6A1-related condition is a significant step towards making this rare disease visible within healthcare systems.

    For affected people and families, having a recognised place for a disease in an international classification can help make their reality more visible in different settings. It also highlights the importance of continuing to advance knowledge, care and research on SLC6A1.

    This announcement comes a decade after the publication of the first scientific article from the Carvill laboratory and after five years of efforts led by SLC6A1 Connect. We recognise the sustained work of all the people, families, professionals and researchers who have helped keep this cause on the scientific and healthcare agenda.

    We will continue to share progress on this process with caution and confidence. Every step that helps identify and raise awareness of SLC6A1-associated developmental and epileptic encephalopathy strengthens our community and keeps the door open to further progress.

    Image from the post “An important step towards the recognition of SLC6A1 in the ICD-10”

    Sources

    See the original post on X (in Spanish)

  • Without science there is no future for rare diseases

    At SLC6A1-Spain we join the call “Without science there is no future” («Sin ciencia no hay futuro»). Biomedical research helps us better understand rare diseases and opens paths towards more accurate diagnoses, more appropriate care and new therapeutic options.

    For people and families living with a rare disease, every scientific advance matters. So does collaboration between research teams, healthcare professionals, institutions and associations, as well as continued support for rigorous projects focused on patients’ real needs.

    Research is a form of support

    Science does not offer immediate answers to every challenge, but it does build knowledge step by step. That sustained effort helps reduce uncertainty and improve understanding of rare diseases.

    That is why we believe research must have a stable place among social and healthcare priorities. We need rare diseases to remain visible and affected people to be listened to throughout the process.

    Always fighting by your side

    At SLC6A1-Spain we continue working to raise awareness of the SLC6A1-related syndrome, support families and promote an informed, collaborative and hopeful community.

    Solidarity, responsible outreach and a commitment to science help us move forward together. Without science there is no future, and together we can help build it.

    Sources

    See the original post on X (in Spanish)

  • SLC6A1-Spain announcement about a lottery share and a possible prize

    Shared hope to keep moving forward

    SLC6A1-Spain announcement about a lottery share and a possible prize

    In 2024 we were especially excited to share luck for the first time through the Spanish Christmas Lottery. We want to share that joy with everyone who is part of SLC6A1-Spain and with those who support us every day.

    Beyond the celebration, every gesture of support reminds us of the importance of walking together. Families and supporters are an essential part of this community and of the strength with which we keep going.

    A year to keep hope alive

    We look to the new year hoping that research will keep advancing and help bring us closer to better answers for people with changes in SLC6A1. We do so with hope, but also with our feet on the ground and respecting the time that science needs.

    We will keep working to raise awareness of this reality, support families and encourage collaboration around the SLC6A1-related syndrome.

    Thank you for being by our side, for contributing and for helping us keep this cause alive. Every bit of support counts and encourages us to keep always fighting by your side (siempre luchando contigo).

    Sources

    See the original post on X (in Spanish)