About Rare Genetic
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
disease to be rare if it has a prevalence of less than 1 per 1000 individuals in the
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
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
the development of new therapeutics is therefore vital and of critical relevance.
About Bone Marrow Failure
Bone Marrow Failure symdromes (BMFS) are a class of rare genetic disorders wherein
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
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,
craniofacial, genitourinary, cardiac and limb abnormalities as well as developmental
stature, darkening of skin, bone abnormalities and heart defects are also
In addtiion, the patients are often predisposed to developing cancers, including
syndrome (MDS) and acute leukemia, (mainly of myeloid type (AML)), as well as solid
Even though significant strides have been made in our understanding of BMF syndromes
recent years, more work needs to be done to gain a better understanding of these
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
needs to be addressed
The list of diseases to be
examined (but are not limited to) will include the following
Rare Genetic Disorders
Elastic fibre and
connective tissue diseases
Bone Marrow Disorders