Judy Hitchcock
It’s been a frenetic year to date for COINN, with a full agenda and increasing commitments to the delivery of Neonatal Nursing care to Sick and Small Newborn Infants globally. International Neonatal Nurses Day, on 15th August,will be heralding in advance the promotional days supporting neonatal nurses, infant’s and their families; and culminating in World Prematurity Day on 17th November reminding us that 1:10 infants are born premature.
Sadly, some of those will be born with a rare disease, defined as conditions which are: life-threatening or chronically debilitating, statistically rare (less than 1 in 2,000 people living with the condition) or complex, meaning special combined efforts are needed to address them such as cystic fibrosis, muscular dystrophy and spina Bifida. There are approximately 5,000 to 8,000 different rare diseases and most have a genetic origin. While there are many different rare diseases, they have many things in common including that they often have no cure, cannot be prevented and have no effective treatment. Rare diseases come in many forms and include some cancers, auto-immune diseases, metabolic conditions and many with inherited malformations; because of the rarity in these diseases, there may only be a few cases documented globally.
Since the development of the internet, online support groups have been able to share management of symptoms but not always the inherent details or the intrinsic genomic data. This is now being met with the recent launch of the Global Nursing Network for Rare Diseases (GNNRD) facilitating a place of communication and sharing of ideas, experience and resources to support comprehensive care and best practise.
Global Nurses Network (gnnrd.org) was established through a partnership between Rare Care Centre, (Rare Care Centre health.wa.gov.au) Curtin Singapore and SingHealth Duke-NUS, this new initiative will provide an opportunity for nurses globally to share expertise, exchange knowledge and skills, solve problems together and provide access to a suite of educational resources for upskilling nurses in rare and undiagnosed disease This is hugely exciting and will improve the lives of people living with rare or undiagnosed diseases.
s. An excellent overview of the goals and benefits of GNNRD can be watched on: (https://youtu.be/uM_s0p-H-no?si=_0m7-g_6ENHjczCa)
I have recently had the pleasure of meeting Professor Gareth Baynam, MBBS, DCH, FRACP, PhD, AFAIDH,. who came to Port Hedland in far Northwest Australia. to discuss his proposal to facilitate access to rare disease support for those families caring for an infant or child with a rare disease in rural and remote settings. He also promoted both the local Rare Care Centre at Perth Children’s hospital in Western Australia, and the GNNRD, particularly the app, Mighty, connecting and providing resources for nurses globally.
Professor Gareth Baynam is the Medical Director of the Rare Care Centre and its state-wide clinical service based as the Perth Children’s Hospital; Head of the Western Australian Register of Developmental Anomalies (birth defects and cerebral palsy registers); Clinical Geneticist and Program Director of the Undiagnosed Diseases Program WA; Foundation Board Member of the Undiagnosed Diseases Network International; and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is a practicing clinical geneticist, genomic policy advisor, clinician scientist and intrapreneur with expertise in rare disease, Indigenous health, precision phenotyping, digital health and health system implementation.
The integration and development of Artificial intelligence, (AI,) has been instrumental in developing this global access to rare disease knowledge. It is so exciting to witness the phenomenal advances in health research and the positives countering the past year of anxiety and fear mongering about the risks associated with AI..
GNNRD has an AI focus as can be seen in this link attached.[2309.17169v2] An evaluation of GPT models for phenotype concept recognition (arxiv.org)
FastHPOCR is an AI approach that is a fraction of the cost, fraction of the compute and increased speed compared to Gen AI. These factors mean that it solves some cost, trust and other health system deployment issues of GenAI, making it scalable, sustainable and accessible, ideal for low and middle income countries, remote locations etc This has the potential to be incorporated collaboratively with the work that COINN is undertaking with global partners in the promotion of neonatal nursing care for Sick and Small Newborn infants. Further links can be found on the COINN web site. coinnurses.org https://www.coinnurses.org
A Diagnostic Odyssey – Red Flags in the Red Sand: https://www.m4rd.org/wp-content/uploads/2020/12/Red-flags-in-the-red-sand-Diagnostic-Odyssey-Baynam-Medicus-2015.pdf
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology: https://pubmed.ncbi.nlm.nih.gov/38913850/
Global Nursing Network, Rare Disease: https://www.gnnrd.org/
Realising the Potential Impact of Artificial Intelligence for Rare Diseases – A
Framework, access below:
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