Page 14 - Biotechnology newsletter 2023-24

Diseases you may have never heard of....

Everyone reading this article must have heard of cancer or HIV, but
have you come across Alpha-1 Antitrypsin Deficiency? Or even
Dercum’s disease? Aside from the more common ailments that may
affect us or our loved ones, there are a lot of other ways out there to get
sick and die. Maybe it's a virus or resistant bacterial infection, or it
could be a genetic disorder too. In any event, they all have one thing in
common: they're no fun.

As we celebrate rare disease day on 28th February, here are some
of the rarest diseases in the world that needs to be noticed and spread
awareness on these diseases as a very few people suffer from them, due
to this there is a shortage of subjects that can participate in
experimental studies in order to find a cure.

Fibrodysplasia ossificans progressiva (Stoneman syndrome): It is an
ultrarare autosomal dominant disorder and disabling syndrome. The
number of reported cases worldwide till now is about 700. The genetic
cause is due to mutation in the activin receptor 1a(ACVR1).The
ossifications(process of bone formation) typically appear within the first
decade of life , resulting in progressive morbidity and sever disability.
So far , there is no effective treatment or prevention.
Symptoms: Malformed big toes or malformed thumbs(in infants).
Deformed spine. Restricted movements of joints. Swelling in affected
area. Frequent imbalance while moving followed by low grade fever,
inflammation and joint pain.

Fields disease: An extremely rare neuromuscular disease that causes
muscular degeneration and affects the nerves causing involuntary
muscle movements. There are only two diagnosed cases recorded till
now in twins.
Symptoms: Hands shaking and inability to perform delicate tasks like
writing and involuntary muscle movements.

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