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Bringing Shwachman-Diamond Syndrome to the Forefront

From the Founder, Dr. Eszter Hars, Ph.D.

This week, I had the great honor to be invited to speak on a patient-centered panel at the NICER Symposium, alongside other accomplished patient advocates. I shared my family's experience with pursuing my daughter's diagnosis to highlight opportunities to shorten the diagnostic odyssey and call for the medical community to consider genetic causes of hematological and immunological (and gastroenterological) presentations much earlier in the patient journey.

The SDS Alliance is working with the NICER consortium on several projects, including providing high impact educational opportunities regarding Shwachman-Diamond Syndrome (SDS) to the medical community and access to diagnostic tool for SDS to providers and patients everywhere.

About NICER: North American Immuno-Hematology Clinical Education & Research

The mission of the NICER consortium is to provide a collaborative multidisciplinary environment to advance the education, clinical care, and research involving pediatric and adult patients with immuno-hematologic disorders. NICER is committed to being purposefully inclusive of pediatric and adult providers from multiple disciplines including, allergy/immunology, genetics, hematology/oncology, hematopoietic stem cell transplant, rheumatology, infectious disease, gastroenterology, endocrinology, etc. to enrich the educational environment and research goals of the consortium. Their goals include:

  • Establishing a network of clinicians and researchers with interest and expertise, to share ideas, provide care and study patients with immuno-hematologic disorders.

  • Utilizing the collective experiences and the multi-disciplinary expertise within the consortium to provide a unique learning and mentoring environment open to both members and non-members.

  • Leveraging the pooled, diverse resources of the members to create a platform for clinical trials, basic science, and translational research with the development of a clinically annotated database, biorepository and network of member centers unified via a central IRB.

  • Partnering with academic societies, institutes and foundations with mutual objectives, to empower the educational initiatives and accelerate research discoveries in areas related to immuno-hematology.

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