Doctor of UGM Studied Genetic Mutation and Gut Microbiome

FK-KMK UGM. Doctor of Faculty of Medicine, Public Health, and Nursing UGM, dr. Suci Widhiati, MSc., SpKK successfully studied genetic mutation and gut microbiome, epidermolysis bullosa (EB).

“Epidermolysis bullosa (EB) is a group of mechano-bullous genodermatosis with clinical blisters on mild friction. There are 4 major clinical varieties, such as simplex EB, junctional EB, dystrophic EB,  and Kindler EB is divided into localized, intermediate, or severe.

Use of whole exome sequencing (WES) can diagnose mutations and show the relation between clinical variety and mutation,” dr.Suci said at the opening of her open thesis defence of Doctoral Program of FK-KMK UGM, Thursday (15/9).

She added that hereditary epidermolysis bullosa (EB) is a congenital disorder characterized by skin that is easy to blister due to trauma and included in mechanical bullous skin diseases. EB is divided into 4 major types, such as simplex EB, junctional EB, dystrophic EB,  and Kindler EB. From those 4 types, researchers have found more than EB sub-type 30 varieties with 20 genetic mutations.

“DEB has a complication in the digestive tract. Clinical variety and wound in the digestive tract influencing changes in the gastrointestinal microbiome. This research’s goal is to know the relation between VK with genetic mutation and gastrointestinal microbiome in EB,” she added.

Dr. Suci hopes the research that aims to determine genetic mutation in EB and changes in the pattern of gastrointestinal microbiome diversity can be a reference for therapy in the future.

Through her research, dr. Suci successfully got her doctoral degree of UGM number 5.584 with cumlaude predicate under Prof. Dr. dr. Hardyanto Soebono, Sp.KK(K) guidance.

“Only a few clinical students studied in the genetic field, because it’s so difficult. However, dr. Suci has an ability to do it. I am proud to be her teacher,” Prof Hardyanto said.

Reporter: Wiwin

Translator: Nirwana

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