BurchGene

Semestral magazine of Genetics and Bioengineering Department

ISSUE 01/MAY 2016

FO R E N S IC GENET ICS

Genetics for CSI

Great introduction in forensic
genetics on crime scene p.8

ALZHEIMERS DISEASE

Question???
Is Alzheimers in your genes?
p.20

N E U RO SCIE N CE

A Love Story
Scientist from Harvard about
neuroscience and genetics p.16

G E N E TH ER A PY

Disease treatment?
Problems and Prospects of
Gene Therapy p.18

LEARN NEW THINGS ABOUT HISTORY OF GENETICS

16

H i st o r y of G en etics

A LOVE
S T O RY

Elma Feri Boji

NEUROSCIENCE AND GENETICS

folded cloth and a final suffix that
means little (Figure 1). In fact the
glyphs represent sounds that all add
up to a word that approximately
means skull-offal, which is not
entirely respectful, but logical, considering that the organ was teased
out through the nose and subsequently thrown out upon mummification. Moreover, it was the heart
that was regarded as the center of
intelligence and thus given a lot
more attention.
Despite the lack of respect that
Figure 1 Edwin Smith Surgical Papyrus
was
given to the brain, the ancient
and First Symbol for Brain
physician that conducted the examThe brain is the center of inations referenced in the papyrus
thought and emotion, and, essen- was aware of the life-threatening
tially, the organ responsible for repercussions of injuries to that
how we perceive the world around organ as well as their unexpected
us. Yet it took humans quite some symptoms in the rest of the body.
time to comprehend the ins and Head injuries that affect peoples
outs of the center of their exis- ability to speak and walk as well
tence. In fact, the first traces of as their visual abilities were also
neuroscience date back as far as mentioned in various cases in the
5000 years ago, to a time when text, and the same motor functions
the ancient Egyptians referred to are tested today as means to invesit cryptically. The document that tigate possible brain injuries.
illustrates this fact is termed the
Edwin Smith Papyrus (Figure 1),
The investigations into the brain
named after an Egyptologist who and allusions to it as the center of
purchased it in 1896 at which time intelligence varied throughout early
it was deciphered to have been history. The Middle Ages produced
written in approximately 3000BC. beautiful renditions of the organ
However, since ancient Egyptians (Figure 2) and indications that
from this period did not have a humans understanding of the very
word for the organ, perhaps the tissue they use to think was become
papyrus reveals how they did not more advanced are reflected in
think about the brain. While the events in the twentieth century,
hand, heart and eye each had their whereby universities deemed it
own unique words, the term used to significant enough to justify acaindicate brain is made up of four demic programs strictly devoted
glyphs, namely vulture, reed, to studying the functions of the
BurchGene Magazine | May 2016

brain and spinal cord. In the 1950s

and 1960s both Massachusetts
Institute of Technology as well as
Harvard Medical School brought
together studies of biology, chemistry, physics and mathematics and became the first to establish free standing Neuroscience
departments.
Subsequent advances in technologies in molecular biology and
genetics and a desire to understand
the link between genes, behavior,
the brain and neurological disorders gave birth to a field that combined the studies of neuroscience
and genetics, namely neurogenetics
and gave rise to a concept termed
the Genetic Brain. Even though
the history of genetics dates back
to the late nineteenth century, just
a few decades before the purchase
of the papyrus, a time at which
Gregor Mendel published his
genetic inheritance concepts, neurogenetics began to expand in the
1960s, pioneered by the research of
Seymour Benzer (Figure 3), who
utilized the fruit fly to elucidate
many neurological functions and
who is considered by many to be
the father of neurogenetics.
No pun intended, but at the heart
of neurogenetics is the study of the
role of genetics in the development
and function of the nervous system.
In this endeavor, neural characteristics are considered phenotypes
and are assumed to be unique to
individuals, even those belonging
to the same species. Staying true
to its name, neurogenetics draws

Hist or y of Ge ne tic s

Figure 2 Inner Aspects of the Human Skull

Wenceslaus Hollar, 1651, after Leonardo Da
Vinci

aspects from both neuroscience

and genetics while it focuses on
an organisms genetic code affects
its expressed traits. In other words,
in its dynamic nature, it focuses on
the impact of genes on the structure and function of the brain and
peripheral nervous system, which
means that neurogenetics is a dicipline that aims at elucidating those
genes that determine or drive our
individuality including diseases
and dysfunctions.
Therefore it is safe to claim
that mutations in the neurogenetic
sequence may have a wide range
of effects on ones quality of life
and must therefore be studied
closely. The earliest studied diseases include amyotrophic lateral
sclerosis (ALS), Alzheimers and
Huntingtons, and they are still at
the center of much research conducted today. The contribution of
genetics to the understanding of
cognition and psychiatric disorders has tended to focus on gene
polymorphisms, or the functionally silent differences in DNA fragments that are responsible for the
vast variation in our species, that
enabled linkage testing, or the analysis of the linkage between DNA
and gene defects. Furthermore,
advancing technology made
genetic analysis more feasible and
available, which is why the last
decade of the 20th century was
marked by an increase in identifying genetic roles in neurological
disorders. These advancements
included, among many, disorders
such as Parkinsons, Alzheimers,
Fragile X syndrome, epilepsy as
well as ALS.

17

Three pounds of the most complex material

that weve discovered in the universe. This is
the mission control center that drives the whole
operation, gathering dispatches through small portals in the
armored bunker of the skull. Your brain is built of cells called
neurons and glia hundreds of billions of them. Each one of
these cells is as complicated as a city. And each one contains the
entire human genome and traffics billions of molecules in intricate economies. Each cell sends electrical pulses to other cells,
up to hundreds of times per second. If you represented each of
these trillions and trillions of pulses in your brain by a single
photon of light, the combined output would be blinding. ~D.E.
While simpler diseases and disorders have genetically been pinpointed, the genetics behind more
complex neurological disorders is a
source of ongoing research. One of
the new developments that resulted
in possible elucidations of genetic
variability within the human population and thereby enabling more
readily discernible linked diseases are genome wide association
studies (GWAS). And while currently no reliable treatment paradigms exist that effectively reverse
progressions of neurodegenerative
diseases, further advancements in
neurogenetics might yield to therapeutic drugs that could reverse
brain deterioration.
However, despite the fact that
there are an increasing number of
genetic polymorphisms that are
studied, they still lack to fully
account for much of the variance
seen in many psychiatric illnesses
and thereby point to gene-environment interactions that have the
ability to account for much more
of the causes and origins of psychiatric disorders. A powerful
example of this idea is schizophrenia, a disease that affects how an
individual feels, thinks and acts.
Those who are affected typically
have a difficult time distinguishing between what is real and what
is imagined and with expressing
normal emotions in social situations. The cause of the disease is
still mainly unknown, and while it
is only 50% concordant in genetically identical twins, the severity
of different life-events may predispose some people to certain psychiatric disorders more so than others

which implies that there is more

to a disease than what exists in the
genetic code.
This points to a presently
dominant field of study termed
epigenetics, namely an area that
focuses on the study of reversible
heritable changes in the functioning of a gene without alterations of
the DNA sequences. Examples of
these phenomena are mechanisms
such as histone de-acetylation and
DNA methylation of non-coding
sequences which induce long-term
silencing of transcription as a result
of environmental events that cause
long-term developmental changes
in chromatin structure. This, in
turn highlights the present view of
the dynamic and thereby complex
field of neurogenetics that is that
the brain, more than any other
organ, is under strong social and
environmental influences that can
have long-lasting effects on brain
function and wellbeing.
But how lucky are we to live in
a time of rapidly advancing technology that enables us more so
than ever to comprehend the inner
workings of the very organ that we
use as we attempt to comprehend
it?! How is that for a mind blow,
brain twister, mind teaser?

Figure 3 Seymor Benzer and a

Drosophila

BurchGene Magazine | May 2016