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SDS & Science Snapshots (2022-06-25)

In this issue: Rare-X report provides update on the true number of rare diseases; new review article on bone marrow failure disorders by Dr. Dokal (UK).

Welcome to our regular updates on all things SDS and Science - now back after a short summer break. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email or message us on Facebook! This is all for you!

Rare-X Report on the Power of Being Counted: 10K+ Rare Diseases

Science and public health are constantly evolving through new insights and learning. When discussing rare diseases, it is common to mention that there are around 7,000. A recent report from Rare-X, a nonprofit focused on rare disease patient data collection and advocacy, has performed an updated count using existing databases and estimated that there are currently around 10,800 rare diseases, of which only 500 — or less than 5% — have available treatments.

It is well known that rare disease patients face many inequity challenges — diagnostic, therapeutic, management, and financial, just to name a few. These challenges require paradigm shifts in our health cares systems; accurate counts of our communities are a crucial step in advocating for our collective needs and making sure nobody is left behind.

New Review Article by Dr. Dokal on Inherited bone marrow failure in the pediatric patient

Dr. Dokal from the UK published a new review article on bone marrow failure syndrome. A review article is a scientific peer reviewed article that summarizes multiple other published work to provide new insights and perspectives. As the title suggests, this article provides an overview on bone marrow failure syndromes. Bone marrow failure syndromes are a group of genetic disorders that cause a challenge for the cells in the bone marrow to divide and produce blood cells. Shwachman-Diamond Syndrome is one such disease and is considered a bone marrow failure disorder for this reason, but it also falls into several other categories of diseases (such as Congenital Neutropenia, Primary Immune Deficiency, etc...).

SDS is also a blood cancer (hematological malignancy) pre-disposition disorder, and as such our focus here at the SDS Alliance is to accelerate and drive therapy development that can decrease the stress on the bone marrow cells and thereby reduce the chance of blood cancer ever occurring. We are also investing in advocacy in this area. More information coming soon.

Inherited bone marrow (BM) failure syndromes are a diverse group of disorders characterized by BM failure, usually in association with one or more additional abnormalities in addition to the blood forming system, such as Pancreatic Exocrine Insufficiency (PEI) in case of Shwachman-Diamond Syndrome (SDS). BM failure, which can involve one or more cell lineages (red blood cells, white blood cells, and platelets), often presents first in childhood. Some patients may initially be labeled as having idiopathic aplastic anemia or myelodysplasia or neutropenia, without identifying the underlying cause. Significant advances in the genetics of these syndromes have been made, identifying more than 100 disease genes, giving insights into normal hematopoiesis and how this is disrupted in patients with BM failure. They have also provided important information on fundamental biological pathways: DNA repair: Fanconi anemia (FA) genes; telomere maintenance: dyskeratosis congenita (DC) genes; and ribosome biogenesis: Shwachman-Diamond syndrome and Diamond-Blackfan anemia genes.

Many of these disorders are associated with an increased cancer risk and therefore research into these diseases have provided insights into human development and cancer.

In the clinic, genetic tests stemming from the recent advances facilitate diagnosis, especially when clinical features are insufficient to accurately classify a disorder.

Hematopoietic stem cell transplantation using fludarabine-based protocols has significantly improved outcomes, particularly for patients with FA and DC. Management of some other complications, such as cancer, remains a big challenge. Recent studies have suggested the possibility of new and potentially more efficacious therapies, including a renewed focus on hematopoietic gene therapy and small molecule drugs that target disease-specific defects.

Read the full review article, below.

Dokal I, Tummala H, Vulliamy TJ.

Blood. 2022 May 23:blood.2020006481. doi: 10.1182/blood.2020006481.

Online ahead of print. PMID: 35605178

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