For individuals living with undiagnosed rare conditions, the journey to answers is often long and filled with uncertainty. At SOPHiA GENETICS, we support partners around the world to help bring clarity through advanced genomic analysis. One such story comes from São Paulo, Brazil, where a woman’s decades-long search for answers finally came to an end thanks to the work of the Bioma Genetics Laboratory.

A complex case with no clear answers

The patient, a 44-year-old woman, had lived her entire life struggling with unexplained symptoms. Her skin was unusually thin and stretchy, her joints overly flexible, her bones so fragile that even minor impacts caused fractures, and she had never been able to have children.

Despite years of consultations, her symptoms remained undiagnosed, leaving her without answers or effective treatment options.

Turning to genomic analysis for answers

Eventually, her doctor referred her to Bioma Genetics, with the hope of finding molecular evidence to support a suspected diagnosis.

Dr. Rafael Malagoli’s team at Bioma Genetics performed genetic testing using the SOPHiA DDM™ Whole Exome Solution v2 and identified two homozygous pathogenic mutations. These mutations confirmed the clinical suspicion of Ehlers-Danlos syndrome (EDS), a rare inherited connective tissue disorder.

A life transformed

For the patient, this diagnosis was life changing. She finally had a scientific explanation for the challenges she had faced her entire life - her skin and joint symptoms, her bone fragility, and her infertility. The emotional weight of decades of uncertainty was eased.

Empowered with this knowledge, she began connecting with others living with EDS. These new connections gave her access to community support, shared experiences, and practical advice on managing her condition. It also opened the door to personalized care and more informed decision-making.

So meaningful was the result that she personally visited the Bioma Genetics team to thank them. Her gratitude reflected not only the significance of receiving a diagnosis, but also the sense of agency and peace it finally brought her after decades of uncertainty.

The power of genomic insight

This story underscores the transformative potential of genomic medicine, particularly when combined with the right tools, such as the SOPHiA DDM™ Platform, and the expertise of dedicated laboratories like Bioma Genetics. For clinicians and laboratories working with rare and inherited disorders, genomic analysis is more than a technical solution, it’s a path to answers that can change lives.

And for patients like this woman, it’s a reminder that understanding your genome can be the key to reclaiming your story.

SOPHiA DDM™ Whole Exome Solution v2 is for Research Use Only (RUO) and not for use in diagnostic procedures. Clinical interpretation and patient management decisions are the sole responsibility of qualified healthcare professionals. Patient case shared with permission and anonymized for educational purposes.