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  • Educational material about genetics, the SLC6A1 gene and the role of GABA in the brain.

    SLC6A1: a simple look at genetics and GABA

    At SLC6A1-Spain we believe that understanding genetics better helps us to understand the disorder associated with SLC6A1 and to ask informed questions together with healthcare professionals.

    DNA, genes and variants

    DNA contains our body’s genetic information. It is made up of four chemical “letters”, represented by A, T, C and G, which combine to form instructions.

    Some of these instructions are organised into codons, which relate to amino acids, the building blocks needed to make proteins. Sometimes a letter can change, be missing or be added. These changes are called variants or mutations.

    Their effects are not always the same: some changes may have no visible consequences, while others may alter the shape or function of a protein. This diversity is one reason why people with changes in SLC6A1 may be affected in different ways.

    How is SLC6A1 related to GABA?

    The SLC6A1 gene is related to the production of the GAT-1 protein. This protein takes part in transporting GABA, an inhibitory neurotransmitter in the brain.

    Communication between nerve cells depends on a balance between signals that activate and signals that inhibit. When a variant in SLC6A1 affects how GAT-1 works, this balance may be disrupted. Exactly how this happens, and its consequences, are still being studied.

    What does haploinsufficiency mean?

    Haploinsufficiency describes a situation in which a single working copy of a gene does not produce enough of a protein for its function to be properly maintained. In the context of SLC6A1, this concept helps to explain why reduced GAT-1 function can have effects on the nervous system.

    Research continues in order to better understand the relationship between variants, GAT-1 function and the features that may appear, such as epilepsy, developmental difficulties or some autism spectrum traits. Every advance in knowledge can help improve understanding of, and support for, people and their families.

    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA
    Educational illustration (in Spanish) about DNA, the SLC6A1 gene, the GAT-1 protein and the neurotransmitter GABA

    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)

  • Happy holidays 2026!

    Happy holidays 2026!

    Image from the post “Happy holidays 2026!”

    Here’s to a 2026 full of DREAMS, STRENGTH and HOPE

    From SLC6A1 Spain, we would like to wish a happy new year and very happy holidays to all the families, friends, members and professionals who walk alongside us.

    Thank you for your constant support, for believing in this project and for being with us in the tireless search for a cure for our children.
    We keep moving forward, learning and growing thanks to you.

    Because together we are stronger.

    #SiempreLuchandoContigo
    #JuntosPorUnaCura
    #SLC6A1Spain

  • San Silvestre race in Albalá

    San Silvestre race in Albalá

    Image from the post “San Silvestre race in Albalá”

    To end 2023 on a high note, we head to Albalá (Cáceres), where people have never stopped going out of their way for one of our families, and whenever the opportunity arises they set out to help our association.

    This time they gave the money raised at the San Silvestre race, held in the village on 31 December 2023, to SLC6A1 research.

    And they raised no less than €1,469.

    Thank you to Albalá Town Council, the San Joaquín Equestrian Association, the parents’ association (AMPA) of CRA Orden de Santiago, Club Deportivo Albalá, the San Joaquín Cultural Association, ArcoIris Suministros and the more than 70 businesses that made the event possible.

    Let’s keep the Christmas spirit alive.

    Let’s run to FIND A CURE for children with SLC6A1!

  • Merry Christmas

    Christmas 2023

    Merry Christmas

    Here’s to a 2024 full of DREAMS, EXCITEMENT and HOPE

    From @SLC6A1_SPAIN, we want to thank all the friends, members and professionals who support us in this project in search of a CURE for our children.

    Because we move forward and grow thanks to you!

    #SiempreLuchandoContigo and with all of you!

  • Presentation of Anita Amore’s book

    Presentation of Anita Amore’s book

    Image from the post “Presentation of Anita Amore’s book”

    Anita Amore, the pen name of our friend Ana, is a wonderful person with a heart too big for her chest.

    Some time ago she began writing, putting her experiences down on paper, and it was a friend who said to her: why don’t you write a book?

    And no sooner said than done… well, no, it was not that quick and easy, but she gradually collected her notes and experiences in a notebook.

    But then the pandemic came, yes, the one that now seems far away but that put many people through a rough patch.

    Anita Amore could not finish her book and put her dream of writing on hold, until she found out that Hugo, the son of her cousin Andrés, had been diagnosed with a rare disease and that his parents, together with five other families, had decided to set up the SLC6A1-Spain association.

    So Anita Amore decided to help these families, who were beginning a joint fight to find a cure for their children.

    She finished writing her book and published it, and all the proceeds from its sale go entirely to SLC6A1-Spain.

    If you would like to buy it, click here (book in Spanish).

    More than 100 copies have already been sold, raising €1,833.57.

    On 18 November 2023, she held the OFFICIAL LAUNCH of her book “Experiencias, aprendizajes y reflexiones” (Experiences, lessons and reflections) at the Francisco de Quevedo Library in Fuengirola (Málaga).

    It was presented by her close friend, the singer Anabel Conde, who came second in the 1995 Eurovision Song Contest.

    One of our families was there to support her, and it was a lovely and moving occasion for everyone.

    Thank you, Anita Amore, simply for being who you are!

  • Charity bingo in Madroñera (Cáceres)

    Charity bingo in Madroñera (Cáceres)

    Image from the post “Charity bingo in Madroñera (Cáceres)”

    A good friend of Hugo’s family, who had already organised a night-time horse ride in Albalá (Cáceres) in July as a board member of the San Joaquín Equestrian Association, is also a local police officer in Madroñera (Cáceres). When he found out that every summer the town organised charity bingo nights for different causes, he did not hesitate to suggest to Anabel, the councillor responsible for culture, that the money raised at the charity bingo could go to our association.

    No sooner said than done: €300 was raised.

    Many thanks to the town of Madroñera and its people who, without knowing Hugo, his family or the other children with SLC6A1 in Spain, did not hesitate to give the proceeds of this event to our association.

  • Charity paella at the dog show

    Charity paella at the dog show

    Image from the post “Charity paella at the dog show”

    On Saturday 15 July 2023, Ermua hosted a BIG EVENT, the town’s first dog beauty show, and when word got around about the event, Jesús, the owner of Sagarra Gastro Pub, offered to make a CHARITY PAELLA for the big day.

    Mireia and her team from Zaporeak joined his initiative. Zaporeak is a non-profit organisation that provides decent food to refugees arriving in Europe. Today they cook meals with the aim of improving living conditions for people trapped in the refugee camps on Lesbos (Greece): https://www.zaporeak.eus/es/

    Lumagorri (a cooperative of 100 families that produce and sell authentic, top-quality, sustainable free-range farmhouse chicken) also joined in to make this charity paella a great success.
    Five paellas were made and 384 portions served, raising €1,920.
    Needless to say, they were all delicious and it was a huge success!
    When’s the next one? 😊

  • Medieval festival in the San Lorenzo neighbourhood of Ermua

    Medieval festival in the San Lorenzo neighbourhood of Ermua

    Image from the post “Medieval festival in the San Lorenzo neighbourhood of Ermua”

    Coinciding with the horse ride, in the Bizkaia town of Ermua, where Hugo is from, the weekend of 8 and 9 July 2023 was the San Lorenzo neighbourhood festival, and the neighbourhood’s festival committee let us set up a small stall to give information about SLC6A1 so that people could support us by taking a T-shirt, bag or backpack in exchange for a donation for RESEARCH.

    And donate they did: a whopping €913! Our friends Goiko and Vero, with their daughter Mara, and our friend Jesús were there; they did not hesitate to set up that lovely little stall to raise AWARENESS of our cause.

    Forever grateful for so much!