We Are Raising Funds for VarSome Premium

When people think about what saves children with cancer and other serious illnesses, they usually picture medicines and equipment. A lot of it is actually information, and whether doctors can get to it in time.

Sequencing a child's genome now takes only a few days. Reading it is the hard part. One genome holds millions of genetic variants. Maybe one of them explains why a child has leukemia, an immune disease, or a syndrome nobody has been able to name. Finding mutations is easy. Working out which one is doing the damage is not.

What VarSome does

VarSome is the tool geneticists use to answer that question. On a single page it shows where a variant sits in the genome, whether it has been found in healthy people, whether it has been described in patients in the scientific literature, and how computer models predict it will affect the protein. Without it, a doctor has to search many separate databases one by one. That takes hours and requires specialized skills.

The free version allows only a hundred searches a day and leaves out most of the databases a diagnosis depends on. Professional work needs VarSome Premium, and that is what we are raising money for.

One patient's story

Since early childhood, one girl had a low platelet count, frequent nosebleeds, heavy periods, and bruised easily. Genetic testing found a rare change in the ETV6 gene, which is linked to inherited low platelet counts and a higher risk of blood disorders.

VarSome brought together everything the doctors needed to assess it. The variant was absent from a large database of healthy people. It affected an important part of the gene. Computer algorithms rated it as potentially significant. And the scientific literature already described another harmful change affecting the same building block of the ETV6 protein, with its damaging effect confirmed in lab studies.

Within a short time, the doctors had solid evidence that the finding could explain the girl's illness, and a clear plan for further monitoring and diagnosis.

Who uses it

The team that relies on VarSome works at the Dmitry Rogachev Center in Moscow, the largest children's hospital of its kind. Over the past year, they sent genetic reports to more than 1,000 families.

How you can help

VarSome Premium costs $28,800 a year, and the subscription has to be renewed every year. Podari.Life cannot do it without you. Every donation goes directly to the doctors who use this tool to find answers for children and their families.

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