Report by Filippo Ciampa – A.B.C. BAMBINI CHIRURGICI DEL BURLO | September 15, 2026
Eight months after the launch of the Baby Wolf project, the rapid genetic diagnosis pathway supported by Medialthea is already producing concrete results for children and families treated at the IRCCS Burlo Garofolo in Trieste.
Through advanced DNA sequencing technologies and multidisciplinary clinical evaluation, the Medical Genetics team is able to identify the genetic causes of complex conditions in a much shorter timeframe, helping clinicians make faster and more informed therapeutic decisions.
10 diagnoses in the first eight months
In the first eight months of the project, Medialthea’s support has contributed to the diagnostic pathway of 10 patients, involving 30 genetic analyses performed on children and their parents.
The first results show the clinical value of rapid genetic diagnosis:
- 10 patients supported through the diagnostic pathway
- 30 genetic analyses performed
- 10 diagnoses obtained
- 4 cases in which the diagnosis changed the therapeutic pathway
- 5 children able to access targeted treatment
Alongside the diagnostic process, children and their families receive ongoing support in understanding the diagnosis and its implications.
From diagnosis to targeted treatment
Some of the cases evaluated in recent months clearly show how genetic diagnosis can directly influence patient care.
In one particularly complex case, a patient affected by widespread vascular malformations, recurrent bleeding and developmental delay had remained without a diagnosis despite numerous previous evaluations.
Advanced genetic analysis performed on tissue identified a mosaic mutation in the PIK3R1 gene, finally providing a definitive diagnosis and allowing doctors to initiate targeted treatment with Alpelisib.
The treatment resulted in a marked reduction in bleeding, resolution of severe anaemia and a significant improvement in the patient’s quality of life.
Reducing uncertainty for families
Rapid genetic diagnosis can also be decisive when a suspected condition needs to be confirmed or excluded.
In one prenatal case, an initial genetic test had identified an alteration in the VPS53 gene, associated with a severe neurological disease. Urgent whole-exome sequencing of the fetus and parents made it possible to exclude the initially suspected condition.
The additional information reduced diagnostic uncertainty and enabled the parents to make an informed decision about the pregnancy, which they chose to continue.
In another case, whole-exome sequencing performed following the detection of fetal cerebral and cardiac abnormalities identified a variant in the DIP2C gene. The diagnosis provided more precise information about the expected development of the condition. The pregnancy continued, and the baby girl was born in good health; her neurodevelopment will now be carefully monitored.
Acting before the disease progresses
For some rare diseases, speed can directly determine the possibility of starting treatment at the right time.
A two-year-old child experiencing progressive psychomotor regression and epileptic seizures underwent urgent whole-exome sequencing. The analysis identified a variant in the RNASEH2B gene, leading to a diagnosis of Aicardi-Goutières syndrome and allowing targeted treatment to begin immediately.
In another case, a 12-day-old newborn tested positive during neonatal screening for biotinidase deficiency. Urgent genetic analysis confirmed the diagnosis before symptoms appeared, allowing immediate treatment with biotin and helping prevent the most serious consequences of the disease.
Turning genetic innovation into better care
Each diagnostic pathway involves genetic analysis of the child and both parents. Medialthea contributes €2,000 for each child, supporting the software, bioinformatic analysis and hospital materials required for the tests, while the IRCCS Burlo Garofolo covers sequencing kits and technical staff costs.
During the first eight months, this support has helped provide diagnostic pathways for 10 children, with the project aiming to reach 15 children by the end of 2026.
The collaboration between A.B.C., IRCCS Burlo Garofolo and Medialthea is helping transform advanced genetic technologies into practical clinical tools: faster diagnoses, more precise therapeutic choices and, when available, earlier access to targeted treatments.
