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Tag: rare diseases

  • Family affected by SLC6A1 whose experience is featured in a news report

    Support for families after an SLC6A1 diagnosis

    Family affected by SLC6A1 whose experience is featured in a news report

    A family affected by SLC6A1 has publicly shared their experience of living with a rare disease that may be associated with epilepsy, learning and communication difficulties, intellectual disability and behavioural changes. How these features appear, and how intense they are, differs from person to person.

    Their testimony highlights a reality that many families know well: receiving a diagnosis can be experienced as a period of grief. At that time, fear, uncertainty, worry about the future and the need to understand what the disease means in everyday life may arise.

    Psychological support matters too

    At SLC6A1-Spain we believe that families should not face the emotional impact of the diagnosis alone. Clear information, psychological support and contact with other families can help people go through this process with more support and understanding.

    Daily life can bring challenges related to communication, emotional regulation, sleep, safety and behaviour. Each family finds its own path, with difficult moments but also with bonds, lessons and progress that deserve to be recognised.

    Raising awareness to provide better support

    Sharing these experiences helps society better understand the reality of rare diseases and keeps families’ needs in the public conversation. It also reminds us of the importance of building support networks that are respectful, accessible and sustained over time.

    We thank the families who generously share their voices. Their stories help others feel less alone and strengthen our commitment to information, support and awareness of SLC6A1.

    Read the full article in 20minutos (in Spanish)

    Sources

    See the original post on X (in Spanish)

  • 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)

  • A podcast to learn about SLC6A1

    Talking about rare diseases also means creating spaces to inform, ask questions and encourage greater awareness. SLC6A1 is one of these conditions that may still be little known and underdiagnosed.

    That is why we are sharing an educational podcast created with the help of artificial intelligence, designed to bring this topic to a wide audience. The episode raises four essential questions:

    • What is SLC6A1?
    • How does it arise?
    • What are the therapies?
    • Where can we find information?

    The audio format can be a simple way to approach these concepts and to start conversations between patients, families, professionals and anyone interested in learning more about this reality.

    Public outreach helps put questions into words and shows why it is important to keep building knowledge about rare diseases. Every resource can help more people approach the information with interest, respect and a critical eye.

    Listen to the podcast about SLC6A1

    At SLC6A1-Spain we continue to support content that helps raise awareness of SLC6A1 and the needs of those who live with it.

    Sources

    See the original post on X (in Spanish)

  • A podcast on SLC6A1-related disorders and a European symposium

    At SLC6A1-Spain we are sharing a new educational resource related to our community: episode 05 of the podcast SLC6A1-related disorders, dedicated to rare diseases and, in particular, to SLC6A1-associated developmental and epileptic encephalopathy.

    The episode is available on YouTube. It has also been announced in English, German and Portuguese, which can make the information easier to access for people and families in different countries.

    Listen to episode 05 on SLC6A1-related disorders

    A European meeting in Lisbon

    The first symposium on SLC6A1 in Europe was also announced. The meeting took place on 29 August 2025 in Lisbon, as part of IEC2025.

    Outreach and meeting spaces for families, professionals and researchers help raise awareness of SLC6A1-related disorders and encourage the exchange of knowledge and experience. We will keep following news about this initiative and share any information that may be useful for our community.

    Image from the post “A podcast on SLC6A1-related disorders and a European symposium”

    Sources

    See the original post on X (in Spanish)

  • Announcement of SLC6A1-Spain’s online participation in the 17th International Congress on Rare Diseases

    We took part in the 17th International Congress on Rare Diseases

    Announcement of SLC6A1-Spain’s online participation in the 17th International Congress on Rare Diseases

    At SLC6A1-Spain we closely follow the spaces that help raise awareness of rare diseases and bring together families, professionals, bodies and organisations.

    That is why we joined the 17th International Congress on Rare Diseases (XVII Congreso Internacional de Enfermedades Raras) online, on Friday 22 and Saturday 23 November 2024, at the Universidad Católica San Antonio de Murcia (UCAM).

    These meetings encourage the exchange of knowledge and experience about rare diseases. They also help strengthen collaboration networks and keep the needs of affected people and their families in view.

    For our association, taking part in initiatives like this is an opportunity to keep learning, share the reality of people with changes in SLC6A1 and help raise awareness of this condition.

    We thank the organising and participating bodies for their work to bring rare diseases closer to society and to create spaces for meeting.

    Sources

    See the original post on X (in Spanish)

  • 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)