Page 47 - GPD-1-1

Gene & Protein in Disease Bangladesh genetic disease database

the advent of technological revolution and gold standard their own genetic disease databases, but a genetic disease
Sanger sequencing, massively parallel DNA sequencing has database is currently unavailable in Bangladesh.
revolutionized the identification of novel human genetic In this paper, we discuss the reasons for constructing
variations. As a result, 20,442 coding genes and more than a genetic disease database and review the status quo of
15,000 monogenic diseases have been discovered . Multi- genetic disease research in Bangladesh, which can aid in
[3]
omics and translational research also make precision the management of genetic diseases.
medicine and gene therapy possible for many diseases .
[4]
On the other hand, the incidence of non-communicable 2. Status of genetic disease research in
diseases, including cardiovascular diseases, diabetes, Bangladesh
and cancers with genetic predisposition, has increased Bangladesh is a highly dense country with a population
alarmingly worldwide. Genetic variants in chronic disease of 166 million people, of which 90% are Muslim, and
provide a better understanding for screening, diagnosis, consanguineous marriage is very prevalent in the
and precise early treatment . Pharmacogenomics using country . Inhabitants of Bangladesh are suffering from
[5]
[9]
genome-based tools allow for administration of precise many infectious and non-infectious diseases. Among
drug doses to eliminate toxicity and improve efficacy . non-infectious diseases, genetic diseases and congenital
[6]
Thus, genetic information has become a key component malformations are quite common. Since there is neither
for efficiently diagnosing and managing any diseases. systematic genetic testing nor well-developed expertise
Genetic diseases are emerging at an alarming rate in for counseling nationwide, most genetic diseases in
both developed and developing countries. According to the Bangladesh remain undiagnosed and have become a
World Health Organization, about 2 – 3% of people suffered significant health burden . Through extrapolating
[10]
from genetic diseases globally by birth, and over 70% of from the worldwide prevalence of genetic diseases, it
these disorders are preventable . It has been reported that is presumed that there are many patients with genetic
[7]
approximately 65% of people have some health problems diseases in Bangladesh. A comprehensive literature review
resulting from genetic mutations, one in 50 people is revealed that more than 60 case reports on genetic diseases
affected by a single-gene mutation, and around one in have been published, summarized in Table 1. Only nine of
263 people is affected by chromosomal abnormalities . the available case reports demonstrated the utilization of
[8]
Remarkably, the prevalence of genetic diseases varies genetic testing (possibly done from abroad) to confirm the
between populations. Thus, the population- or country- presence of a specific disorder. Whole-genome sequencing
specific mutation spectrum of genetic diseases is important has been done for only four Bangladeshi individuals,
as a guide for controlling and properly managing genetic revealing over 11,500 variants responsible for different
diseases. Unfortunately, genetic research remains neglected diseases and 17 genetic diseases . Another whole-exome
[11]
in low-income and lower-middle-income countries, sequencing study discovered the presence of pathogenic
including Bangladesh. Most developed countries and a variants in other genes associated with an extremely rare
few low-income and lower-middle-income countries have genetic diseases in five unrelated patients .
[12]

Table 1. A detailed summary of published case reports on genetic diseases in Bangladesh.
Genetic diseases Inheritance mode Diagnosis procedure Publishing year of Reference
the first case report
Achondroplasia Autosomal dominant (1) Medical history collection 2020 [13]
(2) Physical examination
Attention-deficit Autosomal dominant (1) Interview 2013 [14,15]
hyperactivity disorder (2) Identification of serum level of lead
(ADHD) (3) Significant increase of plasma
ammonia and lactate
Adrenoleukodystrophy X-linked (1) Medical history collection 2010 [16-18]
(2) Physical examination
(3) Biochemical findings
(4) MRI and MRS of brain
(5) USG of abdomen
Bart’s syndrome X-linked (1) Medical history collection 2012 [19]
(2) Physical examination
(3) Skin biopsy
(Contd...)
Volume 1 Issue 1 (2022) 2 https://doi.org/10.36922/gpd.v1i1.78