Doctors at Cambridge University Hospitals are “thrilled” by a baby’s positive response to treatment after her rare genetic condition was diagnosed following results from a national screening study.
Safi Ford from Cambridgeshire had her genetic code analysed through the Generation Study, a programme looking at the effectiveness of using whole genome sequencing to find 200 rare genetic conditions in newborn babies.
Doctors in Cambridge diagnosed Safi with isolated growth hormone deficiency (IGHD), meaning she was able to start treatment early.
Now 13 months old, Safi is catching up with other children her age and has grown 15cm since starting treatment. If treatment continues, her adult height is expected to be within a typical range and unaffected by IGHD.
Dr Emile Hendriks, consultant paediatric endocrinologist at Cambridge University Hospitals NHS Foundation Trust, said: "With the help of the Generation Study we have a clear genetic diagnosis for Safi. It has made it much easier for us to identify the right treatment and to get her started on it sooner. If all goes well, her life should be unaffected by her condition."
In future, children like Safi and their families from across the East of England and beyond will benefit from Cambridge Children's Hospital, which will co-locate research, healthcare and industry partners on the Cambridge Biomedical Campus to treat more illnesses earlier and with greater precision.
The team and I are thrilled with how well Safi is responding to the treatment. It is very positive to see her growing and that her size is starting to catch up with what we would expect for a child of her age.
Dr Emile Hendriks, consultant paediatric endocrinologist at Cambridge University Hospitals NHS Foundation Trust
Between 60 and 150 babies are born in the UK each year with IGHD, a condition which affects their growth leading to them being much shorter than average.
Safi was born at the Rosie Hospital, Cambridge in December 2024. She was one of the first babies participating in the Generation Study that went on to be diagnosed with a rare genetic condition.
Referred to Dr Hendriks, she started treatment for IGHD in July 2025. She will need daily injections of growth hormone until she is around 25 years old.
Although Safi is the first in her family to have genetic testing she has relatives with the condition. Her mother, Dorka, her brother and her father all have IGHD but were diagnosed later in life.
The Generation Study, it has given my family answers and allowed Safi to avoid unpleasant tests and start treatment sooner. Having the genetic result meant we could all stop worrying. I am grateful for the opportunity for Safi to take part in it.
Dorka, Safi's mum
“I wasn’t able to start treatment early,” recalls Dorka, “I only started the therapy when I was about 17 and by then it didn’t make a huge difference to my height. I’m about 4’10” now. I would have liked to have started sooner and I’m glad that Safi will get that chance.”
“It’s also a much better experience for Safi. When I was tested for IGHD it was really unpleasant, involving time in hospital and lots of blood tests. I wouldn’t have wanted that for Safi and we’d probably have to have waited until she was older before she could be tested."
For the genetic test, they just collected a blood sample from her umbilical cord after she was born and sent that off. When we got the results, it provided evidence that led to her being diagnosed and starting treatment.
Dorka
People with IGHD can be treated with growth hormone therapy that, if started early enough, stops the effects of the condition and allow them to grow at a more typical rate.
IGHD is caused by genetic changes that affect the production of growth hormones, chemicals produced by our bodies to drive growth. Treatment replaces these missing hormones with an artificial substitute.
The Generation Study is a national study run by Genomics England aiming to perform whole genome sequencing on 100,000 babies across the country. It seeks to provide early detection for over 200 treatable rare genetic conditions allowing children to receive specialist care and treatment before they develop symptoms. The study aligns with the ambition in the NHS 10 Year Plan to provide whole genome sequencing to all newborn babies.
The Generation Study has great potential to transform the care of young children. It is gratifying to see how it is already helping to detect conditions early so that families can get specialist care sooner. I hope this approach will improve the lives of many more children and save families from a lot of stress and anxiety.
Dr Kasia Gajewska-Knapik, a consultant obstetrician at Cambridge University Hospitals NHS Foundation Trust, who leads the Generation Study in Cambridge
Dr Rich Scott, Chief Executive Officer of Genomics England, said: “We believe genomics can transform healthcare in this country and be used to get ahead of serious illness. It’s been incredibly moving to see the lifechanging impact the Generation Study is having for families.
“Every year thousands of babies are born in the UK with rare genetic conditions, but they can be hard to diagnose. On average, it takes around five years for a rare condition to be diagnosed, at which point it has often progressed to the point where treatment, if it exists, is far less effective."