MBG 3050 Presentations

What is the cause of the “cherry red spot” a key trait in those diagnosed with Tay Sachs disease

Appears due to the accumulation of GM2 gangliosides in the retina’s ganglion cells

What are the primary genetic causes of Wolf-Hirschhorn Syndrome

The deletion of the terminal region of chromosome 4p, resulting in partial monosomy. In most cases, the genes WHSC1 and WHSC2 are almost aways deleted

What is the difference between Chimerism and Mosaicism

Mosaicism is a type of mixoploidy that arises in early development from the same zygote/ Chimerism is a type of mixoploidy that arises from different zygotes

What epigenetic changes at the ICR1 site and ICR2 sites respectively are commonly associated with Beckwith-Wiedemann Syndrome

IC2 loss of methylation and IC1 gain of methlyation

What are the two molecules buildup in the synaptic cleft that lead to hyper-excitability and stroke-like episodes

Glutamate and potassium

What is the difference between copy number variation and repeat expansion

Copy number variation refers to an uneven number of chromosomal DNA/genes between parental chromosomes. Repeat expansion is the addition of a few to thousands STRs to a ‘normal’ locus`

Why is neocortical neurogenesis greater in modern humans than in Neanderthals

Discovered modern humans unique variant of the TKTL1 gene, which causes greater neocortical neurogenesis (more neurons), particularly in the frontal lobe, compared to Neanderthals. This is caused by a lysine to arginine subsitution

What are some common animal models used in Peto’s paradox? Why?

Mice for a smaller lifespan and size model (also similarity to human genome), and elephant or whale for larger lifespan and size model

What should be considered when outlining an experimental design using a canine model

• Environmentally confounding variables due to the variety in diet and physical activity

• Not incomplete 1-to-1 orthology with human genes

• Ethical concerns, use the four R’s

• Dog models are typically more expensive than murine models

What are the ways an X chromosome can be chosen for inactivation

X inactivation can be random or skewed. Random inactivation means the maternal and paternal X each have ~50% chance of inactivation. Skewed inactivation means one X is more frequently inactivated than the other

What are the three key differences between organoids and natural organs that currently limit their use in transplants

• Organoid structures take weeks to form and retain fetal-like properties, while human organs take months to fully mature

• Brain organoids mimic early fetal brain gene expression but lack a vascular system for long-term growth

• Future research needs to focus on how organoids can increase in sie, become vascularized and include immune cells

SMN2 acts as a ‘backup’ gene for SMN1. What concept covered in class describes this phenonmeon

Gene redundancy

What are the main steps required for 3D bioprinting

1. A digital file or 3D scan is uploaded to a 3D bioprinter

2. Bioink is deposited layer by layer following the blueprint on the digital file

3. Crosslinking, a chemical or UV light process, strengthens the printed structure

4. Incubation in a cell medium occurs post printing to promote cell growth and maturation

What are the 2 main delivery vehicles to deliver suicide genes into cells

Viral vectors and non-viral vectors

Which of the following is rarer in Ashkenazi Jewish ancestors: BRCA1 mutation in 5382insC or BRCA2 mutation 6174delT

The BRCA1 mutation 5382insC is rarer in Ashkenazi Jewish ancestors compared to the BRCA2 mutation 6174delT.

Why do Xeroderma Pigmentosum patients have a higher risk of developing cancer compared to the average population

Because they have dysfunctional Nucleotide Excision Repair (NER). This leads to extreme photosenstivity and the accumulation of DNA damage, which increases cancer risk

How can the SNP that causes SCA be used to diagnose this disorder

How many CAR T-cell therapies are FDA-approved for B-cell malignancies

There are 5

What are the challenges/limitations of precision medicine for breast cancer

• Limited treatment targets

• Cost and accessibility issues

• Clinical and research limitations

EDMD and FPLD2 both display a mutation in the same gene, LMNA, which results in different diseases. What is the scientific term used to describe this phenomenon

Allelic heterogeneity