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The Neurogenetics Clinic is a nurse-led service with an aim to improve the diagnosis and health outcomes of patients with rare genetic neurological diseases, with a focus on young adults with complex epilepsies and neuromuscular disorders. The primary objectives of the service are:
- Offer genetic testing to identify the genetic cause of rare neurological conditions.
- Provide genetic counselling and cascade testing for at-risk family members, education, and support.
- Signpost to hospital and community services.
- Engage charities and patient support networks.
- Promote clinical research and patient registries.
The multidisciplinary team is made up of a clinical nurse specialist (CNS), consultant neurologists, and clinical geneticists with expertise in epilepsy, neuromuscular disorders, and neurogenetics.
The Neurogenetics Clinic is based in Atkinson Morley Regional Neurosciences Centre and is funded as a transformational project through the South East Genomics Medicine Service Alliance to embed genomic medicine in day-to-day clinical practice.
Who we See
We see people who have a clinical diagnosis of complex epilepsies or neuromuscular disorders and try to identify if the condition has an underlying genetic cause. Identifying a genetic cause for a complex epilepsy or neuromuscular disorder may explain the condition, provide a prognosis, and enable the wider family to access genetic counselling. It may also allow us to advise patients about hospital and community services available to support in managing their condition and enable them to link with other families, support groups, or charities.
What to Expect
Individuals suspected of a neurogenetic condition will be referred by their consultant neurologists or GPs to the neurogenetics clinic to arrange an appointment. The clinical nurse specialist will discuss the genetic test you are going to have and will take your informed consent. We will also collect a small amount of blood sample from you (4mls or around a tablespoon) to extract your DNA for genetic testing as well as a family history if this is indicated.
Turnaround time for genetic test results varies and may take several months. However, we will reach out to you once we get the result and offer an appointment.
Information for healthcare professionals
If you are a healthcare professional who wishes to make a referral to our service, please contact by email: email@example.com.
Information for patients
The team conducts clinical research and is supported by the Clinical Research Facility and the neurology research nurses.
For further information or queries please contact the Neurogenetics Clinic on:
Dr. Emma Matthews (Neuromuscular Disorders)
Dr. Elizabeth Caruana-Galizia (Epilepsy)
Dr. Frances Elmslie
Dr. Meriel McEntagart
Dr. Nayana Lahiri
Neurology Research Nurses
Maria Belini (Clinical Research Facility)