About Rare Genetic Disorders(RGD)

Just because a disease affects a small number of people does not make it irrelevant or less important than diseases that affect millions.
-Tedros Adhanom Ghebreyessus World health Organization ( WHO) Director- General

  • No Universal definition of a Rare Disease exists; among the definitions, the WHO considers a disease to be rare if it has a prevalence of less than 1 per 1000 individuals in the population
  • Over 300 million people worldwide are estimated to be afflicted with a rare disease, of which 70- 90 million reside in India
  • NORD and RARE LIST are important databases that maintain comprehensive lists of rare diseases identified to date.
  • Approximately 80 percent of these rare disorders are genetic in origin, being monogenic or polygenic, and 95 percent of them do not have any FDA approved treatment.
  • The need to understand and study these disorders in a systematic manner, eventually leading to the development of new therapeutics is therefore vital and of critical relevance.

About Bone Marrow Failure Syndromes(BMFSs)

  • Bone Marrow Failure symdromes (BMFS) are a class of rare genetic disorders wherein genetic defects in the stem cells within the bone marrow lead to a deficit in the production of one or more essential blood cells.
  • The clinical manifestations of BMFs vary depending on the type and number of blood cell lineages that may be involved, leading to anemia (loss of red blood cells), neutropenia (lack of neutrophils) and/or thrombocytopenia (lack of megakaryocytes/ platelets).
  • Several BMFS are also known to present with non-hematologic manifestations, including craniofacial, genitourinary, cardiac and limb abnormalities as well as developmental delays. Short stature, darkening of skin, bone abnormalities and heart defects are also encountered
  • In addtiion, the patients are often predisposed to developing cancers, including myelodysplastic syndrome (MDS) and acute leukemia, (mainly of myeloid type (AML)), as well as solid tumors
  • Even though significant strides have been made in our understanding of BMF syndromes in recent years, more work needs to be done to gain a better understanding of these syndromes which could lead to improved clinical therapies and outcomes.
  • Very few studies on BMFS have been conducted in India
  • Information on the etiology and genetic basis of BMFS in the Indian context remains unexplored needs to be addressed

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