Research Project

Project Title:

GENESIS - Genetic Newborn Screening for Cystinosis and Hyperoxaluria

Project Type:

Clinical Trial, Enrolment ongoing

Disease group(s):


Project Summary:

Current NBS methods, which employ tandem mass-spectrometric analysis of newborn dried blood spots, cannot detect many potentially treatable genetic conditions. At the same time, molecular-based NBS is increasingly feasible because DNA can be extracted from a dried blood spot, next generation sequencing has become economical, and molecular diagnostics have greater reliability and increased validity as genetic databases become more refined and comprehensive.
This NBS pilot study employed the existing German NBS framework to incorporate first tier, high-throughput molecular genetic screening for cystinosis and Hyperoxaluria.
The aim of the current study is to monitor and compare the course of the diseases in patients diagnosed and treated early through the pilot project to patients diagnosed clinically.
For routine NBS under the German Children’s Guidelines, dried blood spot cards are obtained 36-72 hours after birth. The same dried blood spot card is used for the pilot project. DNA is extracted from individual 3.2 mm punches of the dried blood card. All probes are analysed at the Screening-Labor Hannover.
Parents receive an information sheet clarifying the screening process and objectives, the potential risks and benefits, possible results of non-participation, the molecular nature of the screening, and the validity of the test results. A parent and the attending physician signed the information sheet as documentation of informed consent, which allowed data transfer and patient referral to a treatment center in case of a positive result.
In a first pilot project, the scientific basis for a molecular genetic newborn screening for cystinosis and spinal muscular dystrophy (SMA) was developed. The second phase of the project, which has started on 15.03.2022, will now demonstrate the transferability of the results of the first phase to other screening laboratories and diseases. The screening project is limited to 200,000 probes, with the possibility of expansion.

Lead principal investigator(s):

Katharina Hohenfellner, Rosenheim


B Hoppe, Rosenheim

Project Period:

03/2022   -   03/2026


Non-profit foundation

Project web page:

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