Articles and resources

Newborn
05 May 2022

World View Newborn Screening Congress

We are very excited to announce the World View Newborn Screening Summit 2022 from 28-30th June in conjunction with International Neonatal Screening Day. There will be discussion around the latest advances in screening, but also hearing from those projects initiating new screening services. This event will have over 20 presentations from participants from 11 different countries. The sessions will be live streamed during the event and will be available ‘On-Demand’ after the event for those who register. Registration for the World View Newborn Screening Summit is free, and there will be opportunity to submit questions during the event to the speakers.
A Case of SMA with Pompe Disease in India
Newborn
09 Jun 2021

A Case of SMA with Pompe Disease in India

In a recent case in India, a child was diagnosed with simultaneous Pompe disease and spinal muscular atrophy (SMA). See Dr. Priyanshu Mathur’s presentation to learn more about the rare case and how the child was identified for treatment.
Newborn screening for LSDs – a pilot study from Brazil
Newborn
09 Jun 2021

Newborn screening for LSDs – a pilot study from Brazil

Early diagnosis of lysosomal storage disorders is essential for better patient outcomes. In her presentation, Dr. Francyne Kubaski of the Medical Genetics Service of Brazil shares the learnings from an LSD newborn screening pilot study using tandem mass spectrometry. The study was conducted using PerkinElmer’s NeoLSD ™ MSMS kit, which enables screening of up to six lysosomal storage disorders from a single blood spot punch. See the video to learn more.
How do you keep your newborn screening program running under COVID-19 pressure?
Newborn
09 Jun 2021

How do you keep your newborn screening program running under COVID-19 pressure?

Under these extraordinary circumstances, it takes some creative maneuvering to keep your newborn screening program going efficiently. Professor Carmencita Padilla of the University of the Philippines shares the lessons learned from the creative strategies and continuity plans implemented throughout the Philippine newborn screening program. See her presentation for practical advice and ideas on how to run your program under COVID-19 pressure.
Idario Santos – Sweet Odyssey
Newborn
22 Apr 2021

Idario Santos – Sweet Odyssey

Idario Santos - talks about his sons journey with Maple Syrup Urine Disease - Sweet Odyssey
Expanded newborn screening – An interview with Dr. Marianna Messina
Newborn
22 Apr 2021

Expanded newborn screening – An interview with Dr. Marianna Messina

Dr. Marianna Messina discusses her experiences introducing expanded screening to her laboratory in Italy.
First years of experience on LSD screening in Italy, Padova
Newborn
22 Apr 2021

First years of experience on LSD screening in Italy, Padova

The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) for lysosomal storage diseases (LSDs). We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases.

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PerkinElmer does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations please consult your local health care professionals.

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