23rd Feb, 2015
Waterstone Clinic announced that an Irish couple, whose daughter has the rare genetic disease mucolipidosis, are expecting a baby unaffected by the life limiting condition as a result of pre-implantation genetic diagnosis (PGD). It is the first reported incidence in the world of successful PGD with karyomapping in the case of mucolipidosis. Karyomapping is a new technique that has transformed the field of PDG due to its rapid and robust method of detecting a wide range of genetic diseases in embryos.
The ground-breaking news comes in advance of Rare Diseases Day, which takes place on February 28th. The baby’s parents are both carriers of a mutation affecting the mucolipidosis gene, and without PGD, had a one-in-four chance of having a baby affected by the condition. The couple are due to deliver their baby in March.
Waterstone Clinic is one of only two clinics in Ireland licensed to carry out PGD, and the only clinic in the country to have had a successful PGD birth. PGD diagnoses genetic conditions before pregnancy, enabling couples who are known to be at risk of a specific condition to avoid passing it onto their children. The genetic disorders they test for include cystic fibrosis, muscular dystrophy, fragile X syndrome, myotonic dystrophy and a large number of other single gene disorders, which are rare individually but significant in aggregate.
Speaking about the announcement, Anne Lawlor, Information and Development Officer with the Genetic and Rare Disorders Organisation (GRDO) commented that the GRDO has been following the story of PGD in Ireland with interest.
“An estimated 300,000 Irish people will be affected by a rare disease in their lifetime, 80% of which are genetic in origin. Progress in medical research is resulting in more options becoming available, allowing those with genetic conditions in their families to make informed decisions on future healthcare options, both for themselves and for their families,” Ms Lawlor said.
Last July, Cork couple Patrick Mullane and Lisa Cooke became the first couple to have a baby born as a result of PGD carried out in Ireland. The couple availed of PGD at Waterstone Clinic to prevent their child from inheriting cystic fibrosis. Their baby, Bridget, is now eight months old, free from cystic fibrosis, and thriving.
Speaking about PGD, Dr John Waterstone, Medical Director at Waterstone Clinic, said: “The success of our PGD programme has been really encouraging. Until very recently, couples had to travel abroad for PGD, adding stress and expense to an already demanding process. In the lead up to Rare Disease Day, we are delighted to say that one of our couples is expecting a baby unaffected by mucolipidosis, which the couple were at high risk of transmitting.”
Mucolipidosis is a rare inherited metabolic disorder where growth usually stops before a child is two. Most people who are born with mucolipidosis do not survive past early childhood.
“Almost 70% of the couples who have had an embryo transfer after PGD at Waterstone Clinic have become pregnant; this is a very promising success rate for this highly complex IVF treatment. We hope that these couples will be the first of many to avoid passing on inherited conditions as a result of PGD,” Dr Waterstone added.
At Waterstone Clinic, PGD is only available to people at risk of passing on certain life-limiting and debilitating conditions. The HPRA has licensed Waterstone Clinic to carry out embryo biopsy for PGD and the genetic analysis required is carried out by Reprogenetics UK, a global genetics laboratory which specialises in PGD and pre-implantation genetic screening (PGS).
Welcoming the news of the successful pregnancy, Professor Dagan Wells, director of Reprogenetics UK, commented: “This is a great illustration of Waterstone Clinic’s role as a leader in the field of IVF, highlighting the capacity of the clinic to offer its patients truly cutting edge technology.”