The ZBF clinical team went to attend one day seminar on Genetic Testing for Rare and Celiac Inherited Diseases at CDA Hospital in Islamabad which started from 11am and ended around 1pm on Saturday 26^th August 2017. There were two technical talks in total; both by prestigious specialists from Karachi called in especially for this seminar. The carefully selected audience consisted of various medical and lab practitioners.

The seminar was held to emphasize the collaboration between NIBD, Karachi and Excel Labs to provide Northern Pakistan with the access to specialized Hematology and DNA tests.

Lecture. 1: Changing Face of Celiac Disease – By Prof. Dr. Iqbal A. Memon

He is Professor of Pediatrics/ Gastroenterology, Hepatology and Nutrition & Head of Department of Pediatrics, Sir Syed Medical College for Girls. He holds specialization in areas: Liver, Peads, GI and Nutrition.

He explained that the celiac disease (CD) – which causes intolerance to gluten – causes inflammation in abdomen (small intestine), has 1 person out of every 100 people as sufferers while 90% remain undiagnosed. Various problems such as dental problems, short stature (like that of patients of Down’s syndrome), bone problems, lactose intolerance, infertility and nonspecific pain in abdomen – might be the only manifestations of this disease.

It has two types namely, Classic CD and Asymptomatic CD. Classic CD is symptomatic showing presence of signs like vomiting, malnutrition, loss of fluid and loss of muscle mass. Such cases do not need biopsies, only serological tests are needed. However Asymptomatic CD cases need both the ways of diagnosis to solve the medical urgency.

Individuals with Down’s syndrome, Turner’s syndrome, Diabetes 1, thyroid disorders, and liver problems should get tested for this disease because they can encounter CD as their immunity is down, making the patients vulnerable enough. HLA-DQ2 and HLA-DQ8 are the genes involved: Gene testing should be done for both if the family has any of the aforementioned diseases in pattern of inheritance. CD can cause Calcium and Vitamin D deficiencies in the body too.

The only way it can be treated is to stick to gluten free diet for eternity. Celiac disease can be diagnosed via blood DNA tests, abdominal biopsy and serological (IgA deficiency) tests. It can be both benign and malignant, but with early diagnosis the complications can be ruled out as soon as possible. Celiac disease puts its victims on the risk of developing cancer also if untreated and malignant.

Lecture.2: Clinical Implementation of Next Generation Sequencing in Inherited Disorders – By Dr Tahir Sultan Shamsi

He is currently Head of Department, National Institute of Blood Diseases and Bone Marrow Transplantation · Department of Hematology Pakistan; Professor of Hematology and Internal Medicine, Stem Cell Research and Regenerative Medicine, Consultant Hematologist and Transplant Physician.

He said the power of high–throughput DNA sequencing technologies is being harnessed by researchers to address an increasingly diverse range of biological problems. He highlighted the importance of Next Generation Sequencing and its advantages. This is something which is going to be a great tool in future for the diagnosis of rare Inherited Disorders. We are really happy to share that the very first commercial NGS in Pakistan is available at NIBD.