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Genetic counselling for a range of rare disorders

In the first in our clinical series on rare diseases, Dr Sally Ann Lynch, Jacqueline Turner, Dr Alana Ward and Rosie O’Shea explain the role of clinical genetics, rare disease gene identification and some of the latest developments and treatments. The National Centre for Medical Genetics (NCMG) provides a genetic counselling service for families who are affected by, or at risk of, genetic diseases. Many of the referrals are for rare genetic conditions. The rare disease paradox  — collectively, rare diseases are common because they are numerous — is evident from the volume of referrals from all specialities and from…