Nora
Rasenti’s SUBMISSION
ON A
GENETIC
CRISES
|
ABSTRACT
There are new genes in the human genome. The ones that are beneficial to the health of
our communities require a degree of attention - because they are not always
compatible with older genomes, and yet they are widespread worldwide. This paper endeavours to highlight the NEED
of introducing Management and Control measures regarding conception, in order
to ensure the genetic health of our future generations.
INTRODUCTION
I begin by trying to shed some insights on
the subject of Population Genetics, its study of hereditary variations and its
relationship to Evolutionary Biology. Then
I undertake to establish a framework encompassing some of the historical
developments of Genetics, and also the terminology connected with this area of
knowledge.
I further focus on DNA and its contribution
to heredity; and acknowledge "junk DNA" and its importance. I also describe the importance of Mitochondria
in the tracing of our historical roots.
I highlight how ‘Mutations’ and
‘chromosomal aberrations’ affect us- mostly bad, some good. I further itemize some common genetic
disorders and their idiosyncrasies.
Finally, the conclusion attempts to chart a way forward in light of the
fact that some mutations can be ultimately good for the common human genome,
even when requiring control measures to prevent incompatibility between the
parents.
FRAMEWORK
Biodiversity
- enshrined in the versatility of LIFE itself in
our planet, exemplifies variation at genetic, species
and eco-system levels.
The exploration
of humanity’s ANIMAL heritage, incorporating the whole of the human race, is especially critical in order to attain
knowledge and understanding of humankind - a concept upholded by
Anthropology.
Population genetics - is an important part of evolutionary biology and it comprises the area of genetics that deals with genetic differences within
and between populations.
The field of study of Physical Anthropology encompasses the
analysis of hereditary differences in human populations. It is because the processes of variation and
selection take place at population level that the theory of the genetics of ‘evolutionary
change’ is enclosed in the general area of knowledge referred to as ‘Population
Genetics’. This field of study, also called ‘biological
anthropology’, connects other areas of knowledge to the study of the origin of
animals, and even Homo Sapiens.
The discipline endeavors to study the path of human evolution
and begins with the study of variables in the frequency of genes found in a specific
population in an effort to describe the distribution of hereditary variations among present-day populations while analyzing
the contributions to human life made by three fundamental factors:
·
heredity,
·
natural environment and
·
culture.
Thanks to Anthropology some of us have been
able to realize that despite our different cultures, we are all members of the
same family, sharing a common nature and with the expectation of a common
destiny.
Early human migrations across our planet have
been used to trace changes in DNA, providing
information of movements in historical times (i.e. the passage of various
conquerors through Europe would have been made possible by the analysis of
blood types).
Over time, humans settled and differentiated
themselves in varied groups, denominated RACES, while many of the distinctive
features, such as skin color and body shape, are believed to have been the
result of adjustments to local regional conditions. Apparently, the differences between races are
based on a small number of COMMON genes affecting external features.
While climate changes may lead
to population changes at genetic level, when dealing with human, rather than
plant or animal populations, ‘cultural evolution’ can also be a strong
influence, as it is demonstrated by the influence that career and economic goals
have in the reproductive patterns of many communities today, affecting the
number of children that couples aspire to have.
HISTORICAL
BACKGROUND
Charles Darwin - English naturalist, geologist and biologist - is credited with
bringing forward the concept that, generation
after generation the qualities of a population can vary so significantly that
we can acknowledge a new species has come into being. This process of change is what is referred to
as EVOLUTION, and it is facilitated not only by natural selection, but also by
mutations. This would have originally
driven the origination of all life forms.
He published his ‘theory of evolution’ in a book entitled “On the
Origin of Species” originally published in the year 1859.
As a matter of fact, the concepts of variation and natural selection are at the centre of this ‘theory of evolution’ as proposed by Charles Darwin and Alfred Russell Wallace. A British
naturalist, bio-geographer, author and humanitarian, Wallace is best known for developing a theory of evolution through
natural selection independently of Charles Darwin. Originally, it was thought that variations in
hereditary patterns arose naturally in populations, and that they would either prevail
or fail when confronted by the environmental conditions existing at the time.
We have
then that while ‘the theory of evolution’ does not deny God’s part in Creation;
it acknowledges the need to recognize that species have evolved over time.
I came across
the following quote that is of relevance here: "There has been 200 years
of marketing that if you want to be a scientific person you have got to keep
your mind free of the fetters of religion". This quote, by Sociologist Rodney Stark, was included
in an issue of the publication ‘Scientific America’ some time ago. In this regards, we need to acknowledge the fact
that the public has at times be shaken by the ‘theory of evolution’ and find it
more reassuring to embrace the "creationism" of "Genesis" as
depicted in the first Chapter of the Bible.
There is a need to give the community a chance to absorb the new
information. It feels pertinent to
include here a reference to my blog “Environment and Spirituality” published a
few years ago, now included in the Appendix herein.
Charles Darwin also managed to start a big
controversy in Victorian England, when publishing his book “The Descent of Man”. In it he suggested that humans and apes share
a common ancestor - and to compound this announcement, further DNA analysis
supported the statement. Apparently at
DNA sequence level, the genetic make-up of humans and chimpanzees, for example,
are extremely alike.
Even considering that hereditary changes
were basic to the ‘theories of evolution’ forwarded by Charles
Darwin and Alfred Russell Wallace, we also need to acknowledge that during
their times - the 19th Century - the GENE had not been discovered. It would only be in the 20th Century that we
could consider these theories in the context of the Science of GENETICS.
LUCA
And while
species may change, and new species may arise under the influence of
environmental changes, it would have been in July 2016, that scientists around
the planet reported identifying a set of 355 genes from the Last
Universal Common Ancestor (LUCA). It
is alleged that LUCA would have been a common ancestor to all life forms living
on our planet today.
The discovery
of LUCA validated concepts that have already been brought forward by the study of
‘Phylogenetic Trees’.
The idea of using
a "tree of life" to illustrate the progression from lower to higher
forms of life, developed from ancient notions of a ladder-like structure, with representations
of "branching". As a matter of
fact, the book “Elementary Geology”, by Edward Hitchcock (first edition in the year
1840) already included a "paleontological chart" depicting the
relationships among plants and animals.
A ‘Phylogenetic
Tree’ is a branching diagram showing the evolutionary relationships among
various species or other entities, and is based upon similarities and
differences in their physical or genetic characteristics. It is believed that
on account of common ancestry, all life on Earth is part of a single
phylogenetic tree.
Charles Darwin also
produced one of the first illustrations of an evolutionary ‘tree’ in his book
“The Origin of Species” and crucially popularized the concept. It is remarkable to realize that over a
century later, evolutionary biologists still use tree diagrams to represent evolution.
GENETICS
Genetics includes the study of heredity, or how different traits
are transferred across generations. It forms
one of the central pillars of biology and overlaps with many other areas,
such as agriculture, medicine, and biotechnology. References of
interest in this area of knowledge have been found very early on, some dating
more than 6000 years ago (i.e.: Babylonian
tablet).
Such references provide a founding to the idea that humankind has
recognized the power of heredity and applied its principles to the upgrading
of cultivated crops and domestic animals since the dawn of
civilization. And yet, most of the
mechanisms of heredity, remained mystifying until the 19th century, when
genetics began in earnest as a formalized science.
Recent
developments on bio-chemical analysis enable us to determine how close is the
genome of different species, illustrating, for example, the common ancestry of apes
and humans. DNA sequence mapping
techniques have made possible the analysis of DNA found in the mitochondria of
human cells, and in the cell nucleus (please also refer to the section entitled
‘Mitochondria’). These techniques have resulted
in the realization that African populations have more mutations than Europeans
or Asian, a fact that is usually perceived as suggestive of the Africans having
had more time to accumulate them.
Natural
selection acts in ways that may be different for different populations of the
same species and over time, these populations may have fairly different
gene-pools. Under normal circumstances, this
is regulated by the movement of individuals between groups, but if for some
reason the groups were to become isolated, the populations could grow to be
different to the point that THEY CAN NO LONGER INTER-BREEDS. An example of this is provided by some
species of fish in the Caribbean and Pacific Oceans when the sea level fell on
account of the Isthmus of Panama being formed.
MICRO &
MACRO EVOLUTION
The
example above highlights the relevance of differentiating between MICRO and
MACRO evolution. The following
definition, even though from a religious perspective, is one of the clearest I
have come across:
Microevolution - variation within the Biblical kind.
Macroevolution - the evolving of one Biblical kind into a new kind.
Micro-evolution
has been defined as changes in the frequency of a gene in a population, and it
can be illustrated by those people that selectively breed dogs aiming to have
descendants with shorter legs or longer hairs than the norm. Macro-evolution on the other hand, indicates
that mutations in the genome of plants and animals can generate new species,
and new families of plants and animals. The chief source of empirical evidence
concerning macro-evolutionary patterns is the fossil record and therefore
macro-evolutionary theory is closely associated with palaeontology.
The distinction between macro and micro
evolution is not perfect, because species sometimes consist of multiple
populations. So far, despite their differences, evolution at
both of these levels relies on the same established mechanisms of evolutionary
change - with mutation identified as
one - yet even though GENETICS has
shown it as the ultimate source of all hereditary variation, ‘mutation breeding’ as a separate branch of
research, was abandoned in Western countries by the 1980's, when it became
clear that mutations cannot really drive macroevolution.
MUTATION -
CAUSES:
Some mutations causing factors are itemized in the list that follows,
which is certainly not exhaustive:
·
Radioactivity (Sterility & disfigurements)
·
Pollution
in general, where burning of plastics results in pollution that releases
dioxins into the atmosphere. This has
had detrimental effects on genomes across animal & plant life. Yet fortunately, this problem would have been
managed by the introduction of bio-plastics.
·
Alcohol.
·
Drugs.
·
Sexually
Transmitted Diseases (SSTDs).
·
Food
chemicals.
·
Industrial
chemicals, etc.
·
In-breeding
(refer to my blog “The Health of our Genes will Determine our Future” in the
Appendix).
THE CELL
Was life created or evolved? The
controversy will continue, but there is no argument that the Cell, as the most
‘basic unit of life’, deserves special attention.
Cells
are the smallest building blocks of the body - living and organized elements
that are born, nourished, multiply and die.
It is sobering that with about 200 different types of cells that differentiate
in terms of the functions that they carry out in the body; nearly all cells share
a similar general structure. These complex integrated networks include bone
cells, blood cells, brain cells, etc. Some of them, such as white blood cells, can
die only hours after their birth, while others can live for several months, and
even years.
The
chemical reactions that happen inside the cells of a living organism are surprisingly
alike in ALL living organisms. Yet each life-form
has a blueprint that is one of a kind, and it directs the metabolic reactions that
build up the body and manages its way of life.
This blueprint or plan controls growth, development, reproduction; and
even death. Also short term reactions
like fear and aggression - and it is a plan that will be shared with the next
generation.
In other words, every being contains
the genetic material that makes up DNA molecules and this material is
passed on when organisms reproduce.
Genetics is the study of how different
qualities are passed down from parents to child and as such includes the study
of HEREDITY. It also helps to
explain concepts like:
·
what makes us unique,
·
why family members look alike, and
·
why some diseases run in families.
GENES
As early as the year 1909, Wilhelm
Johannsen, a Dutch botanist, coined the name ‘GENES’ to identify this basic
unit of heredity. Derived from Greek, the
word means “to give birth to”.
Meanwhile the English biologist William Bateson (1861-1926) contributed
the word ‘GENETICS’ to identify the study of genes and inheritance.
Genetics pertains to humans and all
other organisms. For example, there is:
·
human genetics,
·
mouse genetics,
·
fruit-fly genetics,
etc. ...
·
Cancer genetics --
the study of genetic factors in cancer.
·
Cyto-genetic
- the study of chromosomes in health and disease.
The total complement of genes in an
organism or cell is known as its genome, and includes both the genes and also
the non-coding gene sequences (or what is generally referred to as ‘junk
DNA’).
In this regard, Mendel’s work was of great
interest to biologists, especially in what pertains as to where the factors of
inheritance are located in the cell.
Gregor Johann Mendel was a
scientist, and Augustinian friar, born in a German-speaking family, who gained
posthumous recognition as the founder of the modern science of GENETICS.
Mendel's pea plant
experiments conducted between 1856 and 1863 established many of the rules
of heredity, now referred to as the laws of Mendelian
inheritance.
In keeping with Mendel’s idea that each
offspring got genetic material from both the father and the mother, efforts
were made to identify the genes by studying sperm cells and eggs. Considering that there are only 23
chromosomes in the reproductive human cell, and yet humans have thousands of
characteristics, it is reasonable to expect that each chromosome must have
thousands of genes.
Just consider that identical twins who have
the same genetic information in their chromosomes, illustrate the importance of
environmental variables that would be responsible for differences between them.
While Mendel will always be remembered as
the ‘father’ of genetics, Bateson was the first
genetics professor. He was also crucial
in raising awareness to the fact that some genetic characteristics are linked,
and therefore are not inherited independently but together as a group. This provided a measure of clarity in the
study and understanding of some genetic disorders.
DNA
The laws of genetics
determine the way we look - the colour of our eyes, skin and hair for example -
through instructions entrenched in the cell, where in addition to DNA, two
different types of molecules can be identified - RNA and proteins (with amino
acids being the building blocks of proteins).
Proteins
are in the makeup of all living beings.
The proteins present in food are broken-down during digestion and
absorbed by the cells that then use them to create their own proteins. The cells of the human body create millions
of different proteins, each participating in the structure and functioning of
the body and performing specific tasks.
For example keratin - a protein produced by skin cells - is used in the formation
of nails and hair.
Almost all metabolic reactions depend upon proteins called enzymes, and without them these reactions would proceed too slowly to sustain life - their control, highly specific, means that each enzyme almost catalyzes only one reaction. By directing the syntheses of proteins, DNA controls the production of every chemical in the body.
And while the adult human body contains
trillion of cells...
each person originates from a SINGLE
fertilized egg cell.
The
characteristics of plants and animals (and yes, humans) are determined by the
instructions contained in their genetic code - that is the blueprint wrapped-up
in the nucleolus of each cell. It
is this genetic information that defines the unique nature of each
individual. This information, in the
form of long entangled filaments that form 46 small shaped rods - constitute
what we call CHROMOSOMES.
The DNA
molecules, consisting of segments called genes, carry the genetic BLUEPRINT of the
organism - a series of instructions ("code") for producing every
characteristic of that species, organizing its growth and reproduction and also
containing the instructions for making chemicals and for controlling the
activities of other genes.
The GENES
therefore, contain the coded instructions as inherited by our parents, which
define the build and even functioning of the body.
CELL DIVISION
MITOSIS is the normal process of cell division
and produces a daughter cell with a genetic content identical to that of the
parent cell. MITOSIS is associated with
growth, cell replacement or healing.
MEIOSIS
is associated with sexual reproduction and the daughter nuclei contain HALF the
number of chromosomes of the mother cell. MEIOSIS is associated with the
conception of new individuals.
As early as 1848, biologists had observed
that cell nuclei resolve themselves into small rod-like bodies during mitosis. While in 1869 Swiss chemist Johann F. Miescher extracted
a substance called nuclein, now known as DNA.
CHROMOSOMES
There are 46
chromosomes in each cell, and it is in the DNA of each individual that the
instructions of each unique human body are contained. The complete genetic make-up of a person at
conception is made up by 23 chromosomes from the mother and 23 from the father,
and will remain consistent throughout the life of the person (please refer to
‘Karyotypes Table” in the first page).
These
46 chromosomes are arranged in twenty three pairs. In tracing these back to the original cell
formed at the time of conception, we find that one chromosome of each pair is
identical to one in the sex cell the father contributed, and the other in the
same pair is like one in the sex cell the mother contributed. Therefore, every cell in the body contains
twenty-three chromosomes which carry the father’s hereditary influence, paired
with twenty-three which carry the mother’s hereditary influence.
Just
as the sex cells become mature enough to become available for the conception of
a new life, one member of each chromosome pair is eliminated from the cell - be
it the chromosome contributed by the father of the new parent (grandfather), or
the one derived from the mother of the parent to be (grandmother). It would be very unusual for any two sex cells
produced by an individual to have the same composition of chromosomes.
There are two
kinds of sex chromosomes - the larger ones, called 'X' and the smaller ones,
called 'Y'. The gender of the individual
is determined by which of these chromosomes it has inherited. In humans the cells of females contain two
'X' chromosomes, while the cells of males contain one 'X' and one 'Y'
chromosomes.
When
at the time of conception a male sex cell carrying an X chromosome unites with
a female sex cell, which also contains an X chromosome, the gender of the
offspring will be female; while a male sex cell carrying a Y chromosome that
unites with a female sex cell (which, of course, can only contain an X
chromosome), will result in a pair of chromosomes that consist of an X and a Y
chromosome, resulting in a male child.
Therefore the gender of the baby being conceived can only be determined
by the father.
The formation of the
new cell containing the genetic material from the father OR the mother occurs
through the process of cell division called MEIOSIS. But when the genetic material contributed by
each parent is united in fertilization,
the double dose of hereditary material is restored, and a new individual is
created. This individual, consisting at first of only one cell, grows via MITOSIS, the process of repeated cell divisions. As discussed above, mitosis differs from
meiosis in that each daughter cell receives a full copy of all the hereditary
material found in the parent cell.
The
different combinations of chromosomes that are possible when the sex cells from
a husband and a wife unite at the time of conception, explains why - with the
exception of identical twins - not two brothers and sisters in the same family
are exactly alike.
GENOME
The International Human Genome Project was
set-up in France for the purpose of studying the whole range of human genes
worldwide.
The
human genome, like the genomes of all other living animals, is a collection of
DNA molecules. The sequence,
organization and structure of these molecules and their composition supply the
framework needed to state the information held within the genome itself, and
also provide the genome with the capacity to replicate, repair, package, and
otherwise maintain itself.
The key to the
instructions (‘code’) for LIFE are the bases that link the strands of a
twisting helix of two strands - the double helix of DNA. It was a scientist by the name of Francis Harry Compton Crick that
helped discover DNA's double helix structure.
James Dewey Watson, (an American
geneticist who graduated
in the year 1947, after enrolling at the University of Chicago when only 15 years
of age); together with the British biophysicist FRANCIS Crick came up with
their now-famous model showing DNA as a double helix composed of two
intertwined chains, in a structure resembling a ladder that has been twisted
into a spiral shape.
The determination of the structure of DNA became a cornerstone of genetics and was widely regarded as one of the
most important discoveries of 20th-century biology.
Watson and Crick based their model largely on the research
of British physicists Rosalind Franklin and Maurice Wilkins, who
analyzed X-ray
diffraction patterns
to show that DNA is a double helix.
For this accomplishment James D. Watson was awarded the
1962 Nobel Prize for Physiology or Medicine with Francis Crick and Maurice
Wilkins.
ORIGIN OF NEW GENES
The most common source of new genes
is gene
duplication,
which creates a copy of
an existing gene in the genome.
The resulting genes may then deviate in sequence and in function.
Sets of genes formed in this way compose a gene
family. Gene
duplications and losses within a family are common and represent a major source
of evolutionary biodiversity.
Sometimes, gene duplication may result in a non-functional copy of a
gene, or a functional copy may be subject to mutations that result in loss of
function; such non-functional genes are called pseudo-genes. The genomes of complex multi-cellular organisms, including humans, contain an absolute
majority of DNA without an identified function.
This DNA has often been referred to as "junk DNA".
The relationship between genes can be measured by
comparing the degree of sequence similarity of their DNA. The
sequence differences between genes, if used for phylogenetic analyses (see the entry on this
subject above) and makes it possible for us to study how those genes have
evolved and how the organisms they come from are related.
It
is essential that organisms adapt over the generations to their changing
environments; otherwise, all life would be threatened with extinction. But the adaptations of various kinds (or species)
occur as a result of the unpredictable genetic framework made possible by the
vast amount of genetic information already present within a population of any
given kind.
However, each kind received the totality of its genetic
information at Creation, and the expression of any characteristics related to
that kind is limited to the genetic information with which it began (junk DNA).
So,
the crucial difference in the meaning of the term microevolution (please refer
to entry on Micro and Macro-evolution at the beginning of the paper) as used by
an evolutionist in contrast to a creationist - if we are to consider Mr.
Scripture’s contribution - is that:
·
an
evolutionist thinks microevolution requires the addition of new genetic
information to a species' genome, but
·
a
creationist thinks microevolution requires the expression of genetic information already present.
MITOCHONDRIA
The mitochondria generate most of the
cell's supply of ATP - a source of chemical energy, and it is referred to as
the powerhouse of the cell. In addition
to supplying cellular energy, mitochondria are involved in other tasks, such as
signalling, cellular differentiation, and cell death.
What interest us in terms of this paper, is
the genetic information they contain.
It is due to the fact that the
mitochondrial DNA does not combine, that it has become a useful source of
information for scientists involved in Population Genetics and Evolutionary Biology. Because the mitochondrial DNA is inherited as
a single unit, the relationships between mitochondrial DNA from different
individuals can be represented as gene trees that can be used to infer the
evolutionary history of populations through the analysis of patterns.
However, mitochondrial DNA reflects only
the history of the females in a
population and so may not represent the history of the population as a whole (a
consequence of the shrinking Y chromosome).
This can be partially managed by the use of
paternal genetic sequences; and also, if we are to ascertain a comprehensive
evolutionary history of a population, by factoring-in the nuclear DNA.
GENETIC
MUTATIONS
Even though DNA
replication is generally accurate, mutations (or errors) do occur. These small
mutations that can happen during DNA
replication can
change the gene. Larger mutations can be
caused by errors in recombination that would result in chromosomal
abnormalities, including the duplication, deletion, rearrangement or inversion of
large sections of a chromosome. The error rate can be as low as 10−8
per replication, whereas for some RNA viruses (i.e. SSTD or
Sexually Transmitted Diseases) it can be as high as 10−3. This means that in each generation, each
human genome accumulates 1–2 new mutations.
Genetic
disorders are the result of harmful mutations and can be due to natural changes
in the affected individual, or can be inherited.
Genetic diseases can be caused by changes
in the DNA sequence; or by mutations that are inherited from the parents and
are present in an individual at birth; or by acquired mutations in a gene or
group of genes that occur during a person's life (i.e. exposure to
radioactivity).
CHROMOSOMAL ABERRATIONS
Even though the chromosome set of species usually
remains fairly constant, abnormalities involving the structure or number of
chromosomes of populations should be expected to happen. While making provision for these alterations
to surface spontaneously on account of the cell’s normal processes; their
consequences can generally be expected to be detrimental, producing individuals
that are unhealthy and/or even sterile.
Yet, alterations that prove beneficial - in
as much as they provide new adaptive opportunities that enable evolutionary
change to take place - are rare, but have been known to occur.
In fact, the discovery of visible chromosomal differences
between species has given rise to the belief that radical restructuring of
chromosome architecture has been an important force in evolution.
Two important principles dictate the
properties of a large proportion of structural chromosomal changes. Any deviation from the normal ratio of
genetic material in the genome results in genetic imbalance and abnormal
function (Deletions, Duplications,
Inversions, and Translocations). As a
separate group, changes in chromosome number (Polyploids and Aneuploids).
ALBINISM
Albinism is a
genetic disability. The word 'albinism'
comes from the word 'albus' meaning WHITE as a result of the fact that those
affected have little or no MELANIN in their bodies. Melanin, a chemical produced naturally by the
body, governs the colour of the skin, and also affects the colour of the hair
and the eyes.
Albinism is not
only found in humans, but it is also known to affect many other species -
incorporating both the plant and animal kingdoms (i.e. laboratory rats).
Albinism cannot
be cured, but it is manageable with the correct support system. Its occurrence is related to practices of
in-breeding (please refer to my blog “The Health of Our Genes Will Determine
Our Future”, included in the Appendix herein).
COLOR BLINDNESS
Color
blindness, also known as color vision deficiency, is the decreased ability
to see color or differences in color. It is often
connected with Albinism, but not necessarily (while people that suffer from
Albinism are often color blind, not all color blind people suffer from
Albinism). Color blindness is an
inherited genetic disorder that is frequently the result of mutations on
the X chromosome. There are three
types of congenital color vision deficiencies and they illustrate the degree of
disfunctionality in the perception of colors.
·
monochromacy,
·
dichromacy, and
·
anomalous trichromacy
Simple
tasks such as reading traffic lights, for example, become a challenge for those
affected.
CRETINISM
 |
Congenital iodine deficiency syndrome is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone caused by insufficient iodine in the mother's diet during pregnancy. The under-activity of the thyroid gland at birth, results in growth retardation, developmental delay, and other abnormal characteristics.
Usually the symptoms at the time of birth are mild; doctors
generally use screening techniques to determine if there is evidence of Cretinism
in the newborn. Among the signs and
symptoms of this condition are:
·
Low
hair line.
·
Larger
anterior frontier
·
Persistent
posterior fontanel.
·
Tongue
that appears large, thick and protruded.
While the causes of cretinism are still
unknown, it is thought that genetic mutation is responsible for the disorder.
As discussed above, the abnormalities in genes affect the production of the
enzymes that are required for the synthesis of thyroid hormone. It has also been connected to exposure to
high volume alcohol by a parent.
DOWN SYNDROME
This condition is the most
common chromosome abnormality in humans, with about one per 1,000
babies born affected each year. Apparently in the year 2015, Down syndrome
would have been identified in 5.4 million individuals globally. The condition was named after British
doctor John
Langdon Down,
who fully described the syndrome in 1866, even though some aspects of the
condition would have been described by Jean-Étienne Dominique
Esquirol as early as the year 1838; and Édouard Séguin in 1844. The genetic cause of Down syndrome was discovered
in 1959, and could be the consequence of chemical substances.
After becoming
a member of the United Nations in 1961, John Langdon Down joined the World
Health Organisation in 1965 and asked for the term ‘mongoloid’ to be
changed. From then on, the disorder
became known as Down's syndrome.
Down syndrome (DS or DNS), is also known as
trisomy 21, a genetic
disorder caused by the presence of all or part of a third copy of
chromosome 21. It is usually associated
with:
·
Physical growth delays;
·
Mild to moderate intellectual disability, and
·
Characteristic facial features.
Trisomy 21 is caused by a failure of the 21st
chromosome to separate during egg or sperm development; even though the parents
of the affected individual are genetically normal in most cases. As a result, a sperm or egg cell is produced
with an extra copy of chromosome 21 and therefore, the cell in question has 24
chromosomes. When combined with a normal cell from the other parent, the baby, with
THREE copies of chromosome 21, ends up with 47 chromosomes. Apparently, an analysis of the cases of
Trisomy 21 reflects the following:
·
88% (approx.) of the cases are due to
no-separation of the chromosomes in the mother,
·
8% from no-separation in the father, and
·
3% no-separation after the egg and sperm
have merged.
The average IQ of a young adult with Down
syndrome is 50, equivalent to the mental ability of an 8 or 9 year old child,
but this can vary widely. There is no cure for Down syndrome.
DWARFISM
It generally
refers to shortness in height that result from a genetic condition. A common
cause of Dwarfism is a genetic mutation that affects bone growth. Dwarfism is generally identified by an
average adult height of four feet or less. Common complications include bowing
of the legs, hunching of the back and crowded teeth.
The most common and recognisable form of Dwarfism
in humans is the genetic disorder ‘Achondroplasia’, comprising 70% of
cases; while ‘growth hormone deficiency’ is responsible for most other
cases. Treatment depends on the underlying cause. Those with genetic
disorders can sometimes be treated with surgery or physical
therapy. Hormone disorders can also be treated with growth
hormone therapy in early childhood. The condition is generally associated with
infections in the reproductive system that affects conception. Many support groups provide services to aid
individuals and the discrimination they may face.
HAEMOPHILIA
Haemophilia is
generally an inherited genetic disorder that impairs the body's ability to make
blood clots, a process needed to stop bleeding.
Blood doesn't clot normally because it lacks sufficient blood-clotting
proteins or clotting factors. It
usually affects males, yet it is inherited as an X-linked recessive trait,
though there are cases which occur from spontaneous mutations.
Haemophilia
results in people that bleed for a longer time after an injury and bruise
easily. Small cuts usually wouldn’t be
so much the problem. The greater health
concern, with a severe deficiency of the clotting factor protein, is deep
bleeding inside the body, especially in the joints (knees, ankles and/or
elbows) or even more serious, bleeding in the brain.
People
affected are unusually pale. The
condition is generally associated with practices of in-breeding (please refer
to my blog “The Health Of Our Genes Will Determine Our Future”, included in the
Appendix herein).
RETARDATION
Intellectual disability (ID), also
known as general learning disability and mental
retardation (MR), is a
generalized neuro-development identified by impaired intellectual and adaptive
functioning. It is also defined by an IQ under 70.
Intellectual disability affects about 2–3%
of the general population. Seventy-five to ninety percent of the affected
people have mild intellectual disability.
Cases of unknown cause affected about 95 million people as of 2013.
It is generally connected to in-breeding
practices (please
refer to my blog “The Health of our Genes will Determine Our Future”, included
in the Appendix herein).
CONCLUSION:
It
has been claimed that eight out of ten people in our planet suffer from some
form of genetic disability - that being one of the reasons for this paper.
Further,
it has surfaced in the recent past that there are new genes in the human genome
– may be as a consequence of all the radioactive activities in the planet. Regardless of the harmful and damaging
effects of radioactivity, some of these new genes have been found to be
stabilizing and have an improving effect on the overall human genome - a
miracle perhaps? Apparently, among other
things, the new genes would endow the largest number of the communities of the
planet with the capability to space travel by improving their cardio-vascular.
Yet,
parents with genomes that have different number of genes, even when qualifying
as human genes, have proven to be non-compatible when it comes to conception,
with unexpected results (abnormal children).
This has been absorbed by the communities affected through generations,
it is the expected steep increase in occurrences that raises anxiety and
requires vigilance for a period estimated as at least two decades.
It
is imperative that we, the communities of the planet, acknowledge that
non-compatible genomes result in a genetically unpredictable and unhealthy
future.
There
is a need to monitor the compatibility of parents to be, towards ensuring the
genetic health of the future children. This exercise, cumbersome as it may be,
will move us towards a GENETICALLY HEALTHIER FUTURE.
NORA RASENTI
July 2020
REFERENCES
·
Nora
Rasenti’s blogs as published in Blogger:
„ Environment &
Spirituality
„
The Health of our Genes will Determine our Future.
„
Will Humanity Survive?
·
The
Holy Bible, NIV, 2009 Amity Printing Co., Ltd - China
·
"CULTURE,
PEOPLE, NATURE', by Marvin Harris, 7th edition, 1997, Addison Wesley Longman,
Inc.
·
‘LIFE’, Robert Smedden, 1999, Belitha Press
Ltd.
·
"UNDERSTANDING
ALBINISM" by Shirley Gunn; published 2013 by Human Rights Media
Centre.
·
"CULTURE,
PEOPLE, NATURE', by Marvin Harris, 7th edition, 1997, Addison Wesley Longman,
Inc.
·
"WAS
LIFE CREATED?"; 2016, Watch Tower Bible and Tract Society of
Pennsylvania.
·
"THE
ORIGIN OF LIFE - Five Questions Worth Asking"; 2010; Watchtower Bible and
Tract Society of Pennsylvania.
·
"THE
ENCYCLOPAEDIA OF DNA & GENETICS"; Jill Bailey, Andromeda Oxford
Ltd.
·
'The
Kingfisher Book of 1001 Questions & Answers - Human Body' by Trevor Day,
1st Publish 1994
·
'World
Health Organization' Published 2000 by
Franklin Watts
·
'How
the Body Works' by Steve Parker - published 1994 by Dorling Kindersley
Ltd.
· 'First Human Body Encyclopaedia' Penguin Random House-· 1st Edition 2016
·
‘The
Merek Manual of Medical Information’, 2nd edition, 2003, Rocket Books.
·
World
Wide Web
„
Wikipedia
„
Encyclopaedia
Britannica
„
Others
„
Macro
vs. Microevolution - Ben Scripture; Scripture@ScriptureonCreation.org ?Facebook
Library:
Randburg (Mostly), Sandton & Rosebank
APPENDIX
1. Environment & Spirituality
2. The Health Of Our Genes Will Dictate Our Future
3. Will Humanity Survive?
4. Leviticus – Chapter 18
(Bible NIV)
ENVIRONMENT
& SPIRITUALITY
Written by Nora Rasenti - October 2014
A couple of years back I was asked if I would be interested in
presenting a paper on 'Women & Spirituality'. I was told I could even suggest a topic in
keeping with the rest of the program, that was a journey of spiritual perspectives. I put forward 'Environment & Spirituality',
which was conspicuous by its absence, and it was eventually gladly accepted as
'Women & Spirituality' had actually proven so popular that it was
over-subscribed. Months later, when the
final program was compiled, my paper was not included; as it turned out to be
not really in-line with the overall theme.
I decided to use the work I had done to write an entry that could be
published in one of my blogs.
The first issue that arose when developing the paper was
obviously the connection between the environment and spirituality; which in my
opinion, is a strong one. I thought,
from a religious perspective the strongest inter-connection is present in the
account of Creation.
The most inspiring thing about Genesis and the account of
Creation, from the standpoint of the XXI century, is how scientific
developments have validated it.
Convictions that were based on belief and faith for thousands of years,
have been transformed into certainty as humanity has increased its acumen of
knowledge. And many aspects of the miracle
of Creation no longer require an act of faith, but are of our intellect and
certainty, and can be corroborated, measured and validated by science.
Does this journey from uncertainty to knowledge invalidates
faith? No, it certainly should not. Does it places Religion in question? Quite the contrary, it should strengthen
it.
My research lead me to the realization that virtually all
cultures have creation myths, and that they have been used to fulfill the need
to know where the world we live in originated.
"While it is true that each creation myth reveals the priorities
and concerns of a given culture, it is also true that when creation myths are
compared certain universal or archetypal patterns are discovered in them. Behind the many individual creation myths is
a shadow myths that is the world culture's collective dream ..."
I came across the following definition of the word MYTH: 'a
myth is a narrative projection of a given cultural group's sense of its sacred
past and its significant relationship with the deeper powers of the surrounding
word and universe. A myth is a
projection of an aspect of a culture's soul ...'
South Africa is an example of a rainbow of nations, with
different histories and backgrounds and the spiritual perspectives with regard
to the environment vary. Some of these
traditions are more appropriate than others in terms of the realities of the
present times. That is a reflection of
how different cultures have evolved in as much as interactions with their
particular eco-systems are concerned.
"African history is centred on the environment -
co-existing in harmony with the surroundings an important part of the ethos of
the people in the continent. Their
history determines their cultural traditions, and the traditions define the
belief-system, which in turn determines their religious perspectives"
Desmond Tutu. He went on to further state that
"therefore, a spiritual perspective on environmental issues would be part
of Africa's every day living in its different traditions".
What is faith?
According to "The Watchtower" (January 1, 2012) the word
'FAITH' as used in the Bible refers to firm believe in something unseen. As opposed to knowledge that is believe based
on facts or solid evidence.
Galileo Galilee (1564-1642) went public with his support for
the heliocentric view of the solar system in 1610. This view centred on the conviction that the
planets in the solar system orbit the Sun, and not the Earth - which was the
popular view at the time. This landed
him in trouble with the Inquisition. In
1616 his findings were declared 'false and contrary to the Scriptures' and in
1632 he was tried and found guilty of heressy.
He was given the choice of re-canting or death by poisoning; and choose
the former.
A contemporary of his, Giordano Bruno, found himself in a
similar predicament on account of his philosophical doctrine. When presented with the options of re-canting
or death by poisoning, he rather embraced death than denying his
life-work.
This piece of history illustrates the difference between a ‘philosophical
truth’ (dependant on the conviction of the one formulating it) and a ‘scientific
truth’, which is subject to independent corroboration. Records have it, that as Galileo Galilee was
leaving the courthouse after his sentence, he was approached by one of his
disciples who enquired as to the consequences of his decision in terms of the
weight of his teachings... And Galilee's
answer, a short sentence: "It is still turning" - pointing to the
fact that his upholding the heliocentric view or not would have no effect on
the celestial phenomenon.
But Giordano Bruno's situation was sadly quite another. His conviction was central to the validity of
his work. This is also the case in
matters of faith. In fact, faith is
stronger than mere conviction - spiritual rather than intellectual.
I took the following paragraphs from "The Living
Bible":
1 - "When God began
creating the heavens and the earth, the earth was at first a shapeless chaotic
mass, with the Spirit of God brooding over the dark vapors. Then God said "Let there be light!"
and light appeared. "And God was
pleased with it and divided the light from the darkness - so he let it shine
for a while, and then there was darkness again.
He called the light 'daytime' and the darkness 'nightime'. Together they formed the first
day."
Scientific evidence indicate the Sun is our father, in as much
as it was the Sun that gave birth to the Solar System. The scientific community has been able to
establish the fact that while our Sun's age correlates that of the Universe,
the age of the planets of our Solar System is younger. The first paragraph of the account of
Creation describes the events of that initial act. The implication is that of the planet Earth
finally evolving into a stable shape, rotating on its axis, and suggests to me
the question: How many hours on that first day?
"And God said "Let the vapours separate to form the
sky above and the oceans below."
(7-8). So God made the sky,
dividing the vapor above from the water below.
This all happened on the second day."
9-10 "Then God said, "Let the water beneath the sky
be gathered into oceans so that the dry land will emerge". And so it was. Then God named the dry land 'earth' and the
water 'seas'. And God was
pleased".
11-12 "And he said, "Let the earth burst forth with
every sort of grass and seed bearing plants, and fruit trees with seeds inside
the fruit, so that these seeds will produce the kind of plants and fruits they
came from". And so it was, and God
was pleased. This all occurred on the
third day."
And it could not have happened without light. We all realize the cycle of life enabling
photo-synthesis could not have started until light was shinning through the
thick layer of gases; and affected the composition of the amosphere.
14-15 Then God said, "Let there be bright lights in the
sky, to give light to the earth, and to identify the day and the night, they
shall bring about the seasons on the earth, and mark the days and years. And so it was."
The Earth's 365 day-cycle around the Sun defining the seasons
of the year; would have come about when the 'chaotic mass' that had been the
earth at inception, had settled into the stable eliptic path around the Sun -
closer to the one that we have today.
The oceans playing a pivotal role.
15 "For God made two huge lights, the sun and the moon,
to shine down upon the earth - the larger one, the sun to preside over the day,
and the smaller one, the moon to preside through the night. He also made the stars."
17 "And God set them in the sky, to light the earth and to
preside over the day and night and to divide the light from darkness. And God was pleased. This all happened on the fourth
day."
The plant life and photo-synthesis would have re-defined the
chemical composition of the atmosphere.
The thick layer of gasses giving way to the blue sky, enabling the
sighting of the Sun, the moon and the stars.
Technological developments have made the fear of being branded
an heretic for questioning natural phenomena impossible. It has affected the communities of the
planet, and the way in which they engage in the pursue of knowledge. Returning to the earlier example of
philosophical and scientific truths, the account of Creation can today be
approached with the strength of both scientific and spiritual foundations: they
correlate. Yet as we read through the
paragraphs above, I hope the awe and wonder of its miracle is what finally
prevails.
But the fact that scientific knowledge has made an act of
faith no longer required in relation to the Genesis account of Creation does
not imply faith is obsolete. Faith is of
the essence as we face the uncertainties of the future.
"The Living Bible", British edition,
Coverdale House Publishers, paperback edition, 1975.
"A Dictionary of Creation Myths", by
David Adams Leeming and Margaret Adams Leeming, 1994.
"The World's Religions - Understanding the
living faiths"; consulting editor - Peter B. Clark, 1993.
THE HEALTH OF OUR GENES WILL DICTATE OUR FUTURE
Yes, the health of our genes will certainly
dictate our future. A few weeks ago I published an entry with a reference to
LEVITICUS; and got some interesting feedbacks: i.e. ‘Where do we find
it?’
Leviticus is part of the Old Testament and
can be found in the BIBLE. Leviticus 18 refers to the section
in question. A few days before I published that entry, I was
told the latest research indicates that 8 out of 10 people have genetics
disfunctionalities. I went back to the entry in the Bible and wondered –
why has it taken us this long to act on this?
I did some research in the Internet and
even though Leviticus deals with happenings that took place during the times of
Moses, and refers to events that took place during the Exodus (+/- 1446 BC), it
would have been written during the 6th century. Apparently among much
uncertainty, scholars do agree that the book had a long period of growth, while
including material of antiquity. I would have hoped by now most
communities had developed a healthy interest in the genetic health of their
people; and yet the numbers are unsettling.
UNHEALTHY GENES are due to behaviour
that can be prevented and avoided once the information is made available:
·
Sexuallly
Transmitted Diseases or SSTD
will result in unhealthy genes for your children and grandchildren (i.e. AIDS;
Syphillis, Gonorrea, etc.) Promiscuity and rape are chiefly
responsible for spreading them.
·
IN-BREEDING – this refers to small communities where people have
children with their cousins and other relatives.
·
CHEWING the foetoes – It sounds barbaric, but some communities use
this practice to have multiple babies from one conception.
·
SODOMY – it causes genetic damage that results in dwarf
children.
·
Using ALCOHOL
& DRUGS. I do not think I need to elaborate…
Please share this, if the numbers are right
– 8 out of every 10 people are affected – it affects all of us!!!!
Written by NORA RASENTI
Originally published in
Facebook on September 13, 2016
Labels: Faith, Gender Issues, genes, Genetics, Health, Religion, reproductive rights, women's rights
Tuesday, February 20, 2018
WILL
HUMANITY SURVIVE?
The health of our genes will determine the chances that the
international human community have of having a future.
The statistics that were able to attract public attention to
this problem are certainly somber - eight out of every ten persons have some
form of genetic problems (i.e. retardation, Dawn Syndrome, Cretinism,
etc.) These numbers are a reflection of the global situation, even
though, further investigations exposed different proportions in different areas
of the planet, it could still be confirmed that the overall percentage remained
unchanged.
In September 2016, I wrote a brief entry in Facebook in this
regard, that proved extremely popular and resulted in several enquirers and
comments. As it is, I have been discussing that entry (that was referred
to as 'Leviticus') regularly since then, and has even resulted in an increase
in Bible sales!! So, leading to the present contribution, I decided
to blog it in order to facilitate referrals:
https://anicanora.blogspot.com/2018/02/the-health-of-out-genes-will-dictate.html
The above mentioned contribution underlined the social causes of
this problem - causes that could and should be controlled by all of us, both as
individuals and as communities.
Another twist in this tale, is the genetic differences
introduced by the different ethnicities. Recently I was struggling
to explain this perspective to someone, and a third party volunteered the fact
that Adam and Eve managed to conceived over a hundred descendants each, even
though they were the only humans in the planet at the time (Genesis in the Old
Testament of the Bible). Of course the human genome is rich and
versatile!
A strategy that I consider important, and would like to promote,
is the requirement of genetic tests as part of the process towards obtaining a
marriage license. In many parts of the planet, the requirement of a
basic medical exam towards obtaining a marriage license is routine. That
medical exam should include genetic testing.
As a matter of fact, the genetic test should be undertaken as
soon as there is an intention towards marriage between two
families. This simple procedure can be accomplished with one drop of
saliva from the bride and groom to be, and it takes 5 minutes to get an
outcome. One drop of saliva could make available to the families
involved the information they need to decided whether to proceed towards
marriage or not. One drop of saliva that would make available
critical information as it pertains to maintaining and improving the genetic
health of that family, and related communities.
A simple drop of saliva could change a decision that is presently
being undertaken by chance, into an informed decision that would start
re-shaping our future. Take a moment to consider our chances, eight
out of every ten persons have problems with the health of their genes, a
situation that cries to be assessed and controlled. Our future
depends on it...
Written by NORA RASENTI
Originally published in
Blogger.
LEVITICUS 18
The Lord said to Moses, (2)“Speak
to the Israelite and say to them: I am the Lord your God. (3)You must not do as they do in
Egypt, where you used to live, and you must not do as they do in the land of
Canaan, where I am bringing you. Do not
follow their practices. (4)You
must obey my laws and be careful to follow my decrees. I am the Lord your God. (5)Keep my decrees and laws, for
the man who obeys them will live by them.
I am the Lord.
(6)“’No-one is to
approach any close relative to have sexual relations. I am the Lord.
(7)“’Do not
dishonour your father by having sexual relations with your mother. She is your mother, do not have relations
with her.
(8)“’Do not have
sexual relations with your father’s wife; that would dishonour your
father.
(9)“’Do not have
sexual relations with your sister, either your father’s daughter or your mother’s
daughter, whether she was born in the same home or elsewhere.
(10)“’Do not have
sexual relations with your son’s daughter or your daughter’s daughter; that
would dishonour you.
(11)“’Do not have
sexual relations with the daughter of your father’s wife, born to your father,
she is your sister.
(12)“’Do not have
sexual relations with your father’s sister, she is your father’s close
relative.
(13)“’Do not have
sexual relations with your mother’s sister, because she is your mother’s close
relative.
(14)“’Do not
dishonour your father’s brother by approaching his wife to have sexual
relations; she is your aunt.
(15)“’Do not have
sexual relations with your daughter-in-law.
She is your son’s wife; do not have relations with her.
(16)“’Do not have sexual
relations with your brother’s wife; that would dishonour your brother.
(17)“’Do not have
sexual relations with both a woman and her daughter. Do not have sexual relations with either her
son’s daughter or her daughter’s daughter; they are her close relatives. That is wickedness.
(18)“’Do not take
your wife’s sister as a rival wife and have sexual relations with her while
your wife is living.
(19)“’Do not approach
a woman to have sexual relations during the uncleanness of her monthly
period.
(20)“’Do not have
sexual relations with your neighbour’s wife and defile yourself with her.
(21)“’Do not give any
of your children to be sacrificed by Molech, for you must not profane the name
of your God. I am the Lord.
(22)“’Do not lie with
a man as one lies with a woman; that is detestable.
(23)“’Do not have
sexual relations with an animal and defile yourself with it. A woman must not present herself to an animal
to have sexual relations with it; that is a perversion.
(24)“’Do not defile
yourselves in any of these ways, because this is how the nations that I am
going to drive out before you became defiled.
(25)Even the land was defiled; so I punished it for its sin,
and the land vomited out its inhabitants.
(26)But you must keep my decrees and my laws. The native-born and the aliens living among
you must not do any of these detestable things, (27)for all these
things were done by the people who lives in the land before you, and the land
became defiled. (28)And if
you defile the land, it will vomit you out as it vomited out the nations that
were before you.
(29)Everyone who does
any of these detestable things-such persons must be cut off from their
people. (30)Keep my
requirements and do not follow any of the detestable customs that were
practised before you came and do not defile yourselves with them. I am the Lord your God.’”
