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Mapmystory - Case Studies


It is our inability to recognize, accept,
and celebrate those differences." - Audre Lorde


Case 1

Sudden loss of total-body hair due to faulty gene triggered by stress

30 year old Karan suffered severe hair loss – not just scalp balding but loss of complete body hair, including eyebrows, eyelashes, moustache, beard, pubic hair and also hair on the arm pits. He faced stigmatization not only at work but also with friends and extended family regarding his condition.

Case 2

Sudden cardiac death may be prevented in some families with hereditary cardio-genetic disorder

43 year old Amit was leading a healthy lifestyle with a balanced diet, regular physical exercise, non smoker and a teetotaler. Not your ideal candidate for heart health issues. But was he safe? Or did his genes have some different plans for him?

Case 3

Hereditary Split-hand and Split-foot in a family

A family from an Andhra district visited us for genetic counseling with their 1-year-old baby boy who was healthy and happy. His hands were covered in mittens, and feet in yellow socks. His parents expressed concern about his future health, and the chance of having another baby with the condition they had chosen to hide with socks and mittens- two fused (joined) fingers on the right hand, and only two large toes on both feet, aka, Split Hand/Foot.

Case 4

Whole Genome Sequencing for Type 2 Diabetes and Hyperbilirubinemia

A 32-year-old male affected with type 2 diabetes and chronic hyperbilirubinemia (8 to 10-fold elevated bilirubin levels in the blood) wanted to find out if these could be caused by genetic factors in him? When he went to meet his physician for gaining some insight into the genetics of these conditions,

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