The Mutation Behind Sasha’s Decline:

Understanding SLC6A1

What is SLC6A1 Neurodevelopmental Disorder?

Cause

SLC6A1 neurodevelopmental disorder is a genetic condition resulting from mutations in the SLC6A1 gene. This gene encodes a protein known as GAT-1 (gamma-aminobutyric acid transporter 1), which plays a vital role in regulating the levels of the neurotransmitter gamma-aminobutyric acid (GABA) in the brain.

When the SLC6A1 gene is affected by mutations, it disrupts the normal functioning of the GAT-1 protein, leading to decreased GABA reuptake by certain brain bells. GABA is the primary inhibitory neurotransmitter in the brain, and it plays a crucial role in maintaining a delicate balance in neuronal signalling.

The balance between excitatory and inhibitory neurotransmission is essential for proper brain function. Disruptions in this balance can lead to epilepsy and other neuropsychiatric conditions.

Symptoms

SLC6A1 neurodevelopmental disorder is an “epileptic encephalopathy”. Epileptic encephalopathies are severe epileptic disorders in which the epileptic activity itself contributes to progressive cognitive and developmental impairments. Recurrent seizures and abnormal electrical activity in the brain actively interfere with neurological development, resulting in intellectual disability, developmental delay – often with a regressive pattern of development where children lose abilities they once had – and other neurological and behavioural challenges.

Some children with SLC6A1 neurodevelopmental disorder are at risk of Sudden Unexpected Death in Epilepsy (SUDEP).

SLC6A1 neurodevelopmental disorder is a debilitating disease, and Sasha’s symptoms, while severe, are typical:

  • Epilepsy with absence seizures

  • Intellectual disability

  • Developmental delay and regression

  • Language difficulties (Sasha is entirely non-verbal)

  • Insomnia

  • ADHD (Attention Deficit Hyperactivity Disorder)

  • Sensory dysregulation

  • ASD (Autism Spectrum Disorder)

  • Movement stereotypies (compulsive repetitive movements)

  • Incontinence (nappies into adulthood) + constipation

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The Scientific Panel and Advisors

  • Prof Sue Fletcher (AUS) - Emeritus Professor

    Prof Sue Fletcher (AUS) - Emeritus Professor

    An internationally recognised RNA therapeutics scientist, I was an integral member of the group that pioneered therapeutic antisense oligomer development. We were the first to recognise the clinical potential of morpholino oligomers and designed Eteplirsen, the first FDA approved drug for the treatment of Duchenne muscular dystrophy (DMD). Golodirsen and Casimersen, ASOs designed to address other subsets of DMD mutations, were approved by the FDA in 2019 and 2021 respectively. In 2021, I was appointed an Officer of the Order of Australia for distinguished service to medical research and neurological science.

  • Rodney A. Bowling Jr Ph.D - (US) Chief Scientific Officer TCAR

    Rodney A. Bowling Jr Ph.D - (US) Chief Scientific Officer TCAR

    I serve as the Chief Scientific Officer at To Cure A Rose (TCAR), leading scientific strategy and therapeutic development for children with rare monogenic diseases. I earned my Ph.D. in Medical Sciences from Texas A&M University Health Science Center, Institute of Biosciences and Technology in 2008. I have led large scientific teams through the design, optimisation and advancement of RNA and gene-based therapies, with many programs now progressing through FDA and international clinical trials.

  • A woman wearing safety glasses and a white lab coat in a laboratory or medical setting.

    Dr Laura Croft - (AUS) Senior Scientist Group Lead QUT

    I am a senior scientist and biotech innovator with a passion for advancing RNA therapeutics and precision medicine to transform patient outcomes. My expertise spans RNA metabolism, DNA damage and repair, and RNA-based platform technologies, in particular oligonucleotide therapeutics, with a strong focus on translating cutting-edge research into impactful treatments. I led the preclinical development of a first-in-class RNA oligonucleotide therapy for cancer, taking it from discovery to a clinic-ready drug product.

  • Neda Ghousifam, Ph.D - (US) Science Director TCAR

    Neda Ghousifam, Ph.D - (US) Science Director TCAR

    Before joining To Cure A Rose (TCAR) as a senior scientist, I earned my Ph.D. from Oklahoma State University in 2015, completed my postdoctoral training at the University of Texas at Austin, and managed a biomedical engineering laboratory as a research associate. With over a decade of laboratory experience, I am deeply committed to advancing personalised therapies for children with rare genetic disorders. My passion lies in helping children and families access the promise of targeted, life-changing RNA therapies.

  • A senior man with white hair and a mustache, wearing a beige blazer and blue shirt, smiling in an indoor setting with green plants in the background.

    Prof Michael Wallach (US/AUS) - Director SPARK Australia

    A distinguished molecular parasitologist with over 35 years of experience spanning both academic and industrial science, my research career has made significant contributions to global health and biotechnology, including immunological strategies for controlling seasonal and pandemic influenza. In September 2002, I was appointed the inaugural Director of the Institute for the Biotechnology of Infectious Diseases at University of Technology Sydney (UTS), with appointments at Rockefeller University in New York, Hadassah Medical School in Jerusalem, and the University of Bern in Switzerland. In 2008, I established a Bio-Innovation course at UTS. In 2013, I was appointed the inaugural Director of the SPARK Sydney program, modelled on the successful initiative at Stanford University. My career is dedicated to improving human health through scientific innovation and global collaboration.