Medialthea supports Rapid Genetic Diagnosis for Newborns


Report by Filippo Ciampa – A.B.C. ASSOCIAZIONE PER I BAMBINI CHIRURGICI DEL BURLO | 16 January 2026

Medialthea is supporting a groundbreaking program for rapid genetic diagnosis in critically ill newborns, in partnership with  ABC Burlo Garofalo and the IRCCS Burlo Garofalo, a national reference center for maternal and child health.

Through a contribution of €30,000, Medialthea is enabling the launch of the BABY WOLF program, led by Prof. Gasparini, Director of the Department of Human Genetics, and providing rapid genetic diagnosis for approximately 25–30 newborns, corresponding to the average annual caseload managed by the hospital. The initiative strengthens advanced genomic diagnostics for newborns admitted in critical conditions, enabling faster and more accurate clinical decision-making during the most fragile moments of life.

From months to days: transforming genetic diagnosis

Many critically ill newborns suffer from rare genetic conditions that are difficult to diagnose through standard diagnostic pathways.
Traditional genetic testing can take weeks or even months, forcing clinicians to rely on non-specific or temporary treatments while families remain without clear answers.

Thanks to this support, it is now possible to overcome the limitations of traditional genetic testing, drastically reducing diagnostic times and enabling a genetic diagnosis within just a few working days.

Early diagnosis allows clinicians to:

  • initiate targeted and personalized therapies;

  • avoid ineffective or unnecessary treatments;

  • improve survival rates and long-term outcomes;

  • support families with timely and clear medical information.

The BABY WOLF program

The funded initiative supports BABY WOLF, an advanced rapid genomic diagnostic pathway designed for newborns in critical condition.

The program combines state-of-the-art sequencing technologies with dedicated bioinformatic analysis, allowing healthcare teams to integrate genetic data directly into clinical care when timing is crucial.

In a significant number of cases, early diagnosis makes it possible to prevent irreversible neurological damage, access existing therapies, or guide patients toward innovative treatments, including gene-based therapies, where early intervention is essential.

The program will be monitored over time, with a planned update on its progress and clinical impact in mid-2026.

 

A shared vision

“If one dreams alone, it is only a dream. If we dream together, reality begins.”

By supporting this project, Medialthea contributes to advancing precision medicine in neonatal care, helping transform genetic innovation into concrete, life-saving opportunities for the most vulnerable patients and their families.