{"id":61838,"date":"2025-02-13T11:13:53","date_gmt":"2025-02-13T11:13:53","guid":{"rendered":"https:\/\/shefnews.co.uk\/?p=61838"},"modified":"2025-02-13T11:26:17","modified_gmt":"2025-02-13T11:26:17","slug":"first-baby-in-sheffield-to-take-part-in-life-changing-genetic-research-at-jessop-wing","status":"publish","type":"post","link":"https:\/\/shefnews.co.uk\/index.php\/2025\/02\/13\/first-baby-in-sheffield-to-take-part-in-life-changing-genetic-research-at-jessop-wing\/","title":{"rendered":"First baby in Sheffield to take part in life-changing genetic research at Jessop Wing"},"content":{"rendered":"\n

The first baby to have a cord blood sample taken as part of a genetics study lead by Genomics England was born at Jessop Wing.<\/strong><\/p>\n\n\n\n

Sophia Bird’s parents decided during pregnancy that she would take part in the study which aims to diagnose conditions before symptoms appear in later childhood so families can sooner access the correct support.<\/p>\n\n\n\n

Families are able to take part in the study which is in partnership with NHS England, allowing a sample of their baby\u2019s blood to be screened for over 200 genetic conditions, such as cystic fibrosis and brittle bone disease.<\/p>\n\n\n\n

Sophia\u2019s parents, Alice and Robert, said: \u201cWe would like to say it is a privilege to be the first parents of a child in Sheffield to take part in such important and life-changing research. <\/p>\n\n\n\n

\u201cAlthough we can only grasp the surface of what the information will deliver, we hope that it will help with identification of conditions and possibly save lives.\u201d<\/p>\n\n\n\n

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Midwives have a detailed discussion with parents wanting to take part, an NHS doctor, nurse or midwife then confirming they are still happy after their baby is born so a blood sample can be taken for whole genome sequencing.<\/p>\n\n\n\n

Dr Jackie Cook, Clinical Director Rare Disease North East and Yorkshire Genomic Medical Services and Sheffield Children\u2019s Consultant in Clinical Genetics, said: \u201cEarly identification of rare genetic disorders can help slow the progression of disease and improve or even extend lives. Knowing a child has a rare but treatable genetic condition at an earlier stage also helps prepare families and carers and can make the experience less traumatic. <\/p>\n\n\n\n

\u201cSheffield Children\u2019s is home to dedicated paediatric specialists who care for babies, children and young people locally and nationally with complex conditions, including genetic disorders. Sheffield Children\u2019s welcomes this study as a huge opportunity to support children and families earlier, providing access to the support and treatment needed.\u201d<\/p>\n\n\n\n

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Natalie Khoaz, Research Midwife at Jessop Wing said the facility cares for over 5,500 babies a year and parents that take part could potentially make a huge difference to future generations and babies born with complex needs.<\/p>\n\n\n\n

Sophia Bird, who was born on 16 December, was the first baby in Sheffield to have a cord blood sample taken as part of the study

Sophia's parents, Alice and Robert, said it was a 'privilege' to be the first family to take part in such important and life-changing research. 2\/3 pic.twitter.com\/1Qam32XbdE<\/a><\/p>— Sheffield Hospitals (@SheffieldHosp) February 5, 2025<\/a><\/blockquote>