Genetic Diseases Reflection Paper

( BIO 101 )

A complex and varied range of conditions known as genetic

diseases can be brought on by changes in a person's genetic makeup. These
medical conditions can have a significant effect on both individuals and
populations, and they frequently provide particular difficulties for diagnosis,
care, and management. Understanding the complex relationship between
genetics and health outcomes, as well as the wider social consequences, is
crucial when thinking about genetic diseases.Genetic mutations play a central
role in the development of genetic diseases. These mutations can occur
spontaneously or be inherited from one or both parents. They can affect
specific genes or larger segments of DNA, leading to functional changes in
proteins or disruptions in regulatory mechanisms. The type and location of
these mutations often determine the characteristics and severity of the
resulting disease.In our discussion today, we learn about different genetic
diseases as well as how they occur, its symptoms and different ways to
mitigate its effects in those who have it.
First, the case study of Brina Kie Maxino a girl who’s diagnosed
with Down Syndrome. It is a genetic condition also known is Trisomy 21, is
one of the most commonly occurring chromosomal disorders. It arises from
the presence of an extra copy of chromosome 21, leading to a range of
physical and cognitive characteristics that distinguish individuals with Down
syndrome.She experienced developmental delays and faced societal barriers
that often underestimate the potential of individuals with disabilities. However,
with unwavering support from her family and a nurturing environment, Brina
defied expectations and embarked on a remarkable journey of personal and
academic achievements.
Second, the case study of Albert Einstein, Thomas Edison and
Alexander Graham Bell who are diagnosed with Dyslexia.It is a highly
heritable disorder with a prevalence of at least 5% in school-aged children.
Linkage studies have identified numerous loci throughout the genome that are
likely to harbour candidate dyslexia susceptibility genes. Those who
experience the problem often go through life avoiding reading situations that
cause both embarrassment and confusion. This disorder may come from 60-
70 percent genetic and 30 percent goes to environmental factor.
Lastly is all about Hemophilia, a rare disorder in which the blood
doesn't clot in the typical way because it doesn't have enough blood-clotting
proteins (clotting factors).It is caused by a mutation or change, in one of the
genes, that provides instructions for making the clotting factor proteins
needed to form a blood clot. This change or mutation can prevent the clotting
protein from working properly or to be missing altogether. There are two types
of hemophilia, the classical hemophilia, also known as hemophilia A, is a
hereditary hemorrhagic disorder resulting from a congenital deficit of factor
VIII that manifests as protracted and excessive bleeding either spontaneously
or secondary to trauma while the other types is the hemophilia B is a rare
genetic bleeding disorder in which affected individuals have insufficient levels
of a blood protein called factor IX. We talked about Shelly, diagnosed with
hemophilia A is in five generations of my family—we traced it from my great
grandfather down to my nephew and Michael White Jr., a14-year-old 9th
grader diagnosed with hemophilia B at 3.He experienced bleeding issues
since infancy, notably post-circumcision, requiring hospitalization and
treatment. He also dealt with frequent falls, bruises, and surgery to remove
hematomas.
As the discussion drew to a close, it became clear to me that
genetic diseases may significantly affect individuals and their families. They
could affect numerous aspects of daily life and demand treatment and
supervision for the rest of one's life. These illnesses may also provide
difficulties with regard to ethical issues, genetic counseling, and access to
healthcare. It is essential to comprehend the wider societal implications of
genetic diseases in order to raise awareness, push for resources and support,
and cultivate a more diverse and fair healthcare system. Understanding the
complex relationship between genetics, medical conditions, and broader
societal consequences is necessary in order to reflect on inherited diseases.
We can learn much about the potential and difficulties related to genetic
diseases by learning about the genetic basis of these conditions, the function
of genetic mutations, inheritance patterns, and their effects on people and
society. We may strive to improve genetic diseases prevention, diagnosis,
and treatment through continuous research, education, and support, which
will ultimately improve the lives of those affected by genetic diseases.

Prepared by: James Ryan C. Avila BSED Science 2A