Journal of Genes and Cells

31-33

Authors: Muhammad Aslamkhan

Monogenic hereditary diseases are diseases caused by defects in genes and currently it has been estimated that there are more than 10,000 monogenic diseases with a global prevalence of 10/1000 at birth. According to estimation more than 350 million people are affected by monogenic genetic diseases globally. Thalassemia, sickle cell anaemia, colour blindness, haemophilia, deafness, etc., are some examples of monogenic hereditary diseases. Pakistan is among the countries which are on high alert for rapid increase or such genetic disorders. The reasons for high prevalence of hereditary disorder are many: one is consanguinity due to cultural preference of cousin marriages and mate selection from near or distant blood relatives. Thus 80 percent consanguinity in Pakistan, is perhaps the highest in the world. The incidence of genetic diseases at birth can be reduced through introduction of premarital genetic counselling as a part of healthcare system. Genetic counselling and premarital genetic testing should be practiced in Pakistan to stop this rapidly increasing burden of hereditary diseases.

40-45

Authors: Muhammad Irfan-maqsood, Monireh Bahrami, Mahdi Mirahmadi, Hojjat Naderi-meshkin

Stem cell therapeutic research is passing through a transition phase between laboratory research and health industry. According to the US data registry of clinical trials, more than 4776 studies have been registered, 2882 have been completed whereas 1894 studies are in process. Surprisingly, in spite of having huge research, there are two commercialized stem cell therapeutic products in global market and these two products are also not approved by FDA. As it has been discussed in literature, stem cells have been considered as promising candidates to treat non-curable diseases like cancer etc. More than 80% successful clinical trials have been done showing no or little side effects with much better efficiency than pharmacokinetics but still stem cell research is far from being commercialized. The major reason of stem cells non-commercialization is the gap among clinicians, researchers, industry experts and policy makers. A multibillion dollar grants and a very strong communication system between doctors, researchers, industrial experts, policy makers, regulating authorities, are the pre-requisite to commercialize stem cell therapy.