Progress on the 15q Newborn Screening

October 28, 2022

Progress on the 15q Newborn Screening 

Just 11 short months ago, Dup15q Alliance, Foundation for Prader Willi Syndrome (PWS), Angelman Syndrome Foundation (ASF), and Foundation for Angelman Syndrome Therapeutics (FAST) announced our collaborative work on an initiative to fund the addition of chromosome 15 conditions to Early Check, a flexible framework amenable to screening for a variety of conditions at birth.

Because of You, our community, rallying with us we were able to bring the phase 1 funding to support this very important program.  We wanted to give you an update on how this project is progressing to date.

Overview: 

A contract has been obtained with Dr. David Godler, an associate professor within the department of pediatrics, University of Melbourne, Group Leader of the Diagnosis and Development Laboratory at the Murdoch Children’s Research Institute.

Dr. Godler recently published his team’s diagnostic study that demonstrated screening 15q disorders was feasible using quantitative analysis of SNRPN promoter methylation with the reagent cost, sample requirements, prevalence, and positive predictive value (PPV) estimates compatible with screening for other conditions in the state-sponsored programs.

In order to do this, Dup15q Alliance, PWS, ASF, and FAST submitted an IRB to The Early Check program in North Carolina to allow us to obtain blood or a dried blood spot (DBS) on patients.  The Early Check program was designed to help rare conditions build the evidence needed to make a case for adding newborn screening to state panels.

The Funding: 

This collaboration will provide the funding to build an infrastructure to add chromosome 15 conditions to the Early Check panel and develop evidence of benefit for newborns with these conditions and their families.

To date lab supplies and several pieces of the needed equipment have been purchased and installed.  The supplies include The QIAcube, BenchSmart liquid handler, thermomixer, QS7, and the 384 well blocks. The project continues to move forward with a written and approved Quality Management Plan.

Learn more about the original development of the 15q screening by Dr. Golder.  His works suggest that it is feasible to screen for all chromosome 15 imprinting disorders using SNRPN methylation analysis.

We are so encouraged by the work in this collaboration and are grateful that YOU have helped make this happen!