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41 Cards in this Set
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1. What are the two main stages of thematchmaking process that Dor Yeshorim provides
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Initial individual screening and compatability check for prospective couples.
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. What are some of the solutions when both ofthe reproductive partners are carriers
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If both individuals are carriers for the disease, they are deemed genetically incompatible to which DY provides genetic counselling for these couples.
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3. What are the five factors influencing asuccessful implementation of preconception carrier screening according to thearticle by K.C.A Holtkamp et. al. 2016
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Familiarity,perceived benefits, perceived risk, social influences, community support.
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4. What protein is expressed at reduced amounts in people with Familial dysautonomia? Bonus: what gene contains the mutation?
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The IAKP protein is expressed in reduced amounts. IKBKAP is the gene that codes for it
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5. What is the main ‘ethical’ difference between genotype based matchmaking in the sense of Bump compared to Dor Yeshorim? |
dunno
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What is the most important variable in drug treatment of different ethnic groups?
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Genetic variability in drug metabolizing enzymes
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What are some of the ethical considerations when using someone's genetic samples?
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Consent, potentially culturally harmful conclusions, economic exploitation.
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Whatare two ways a patient’s treatment might by altered dur to their race?
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Differential prescription of drugs, differential dosage, screening
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How does nonsense-mediated decay inhibition aid premature stop codon suppression therapy? |
Allows near cognate aminoacyl-tRNAs tooutcompete release factors at premature stopcodons– Lengthens pausing of ribosome at PTC– Decreases “proofreading” by ribosome
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What two genetic disorders has Ataluren been marketed towards?
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Cystic Fibrosis and Duchenne muscular dystrophy
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What arethe advantages of Ataluren over Gentamicin?
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Ataluren induces both dose and time dependent ribosomal read-through with a greater potency than gentamicin. Ataluren does not cause hERG channel inhibition or discernable antibiotic activity against gram-positive and gram-negative organisms within the body. It is also not mutagenic or genotoxic
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1. What was the first gene found to cause familial parkinson’s disease
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SNCA
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2. What was the first prominent animal model forAlzheimer’s Disease and which allele are they homozygous for in relation toincreased AD risk?
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The Mouse lemur and they were homozygous for the APOE4 allele
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3. What is the main family of drugs used for current treatment for Alzheimer’s |
Cholinesterase inhibitors
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4. What is name of the the most well-established genetic risk factor for late onset Alzheimer’s disease? |
A mutation of the APOE4 allele
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People from what country are more likely to be a carrier for Werner Syndrome?
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japan
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2. How was telomere length measured before Cawthon qPCR? |
DNA digested with restriction enzymeand measured using southern hybridization analysis (southern blot) |
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3. What internal structure enables men to continue to produce telomeres during adult hoodand as they age? |
The spermatogonia
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Which evolutionarily conserved pathway appears to play a significant role in longevity in a variety of model organisms? |
The IIS pathway (insulin IGF-1 signalling pathway
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What is one environmental factor associated withrisk of MS?
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Either Vitamin D levels, exposure to Epstein-Barr virus, or cigarette smoking.
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In what part of the world is myopia most prevalent?
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asia
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Which signalling pathway do monogenic (single-gene) mutations impair?
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Leptin/melanocortin pathway
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. How does theclinical manifestation of Fatal Familial Insomnia relate to its genetics? |
duuno
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2. Name two benefits to obtaining orphan drug status forpharmaceutical companies? |
They receive grants and tax rebates and complete market exclusivity for 7 years.
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What is ATC derived from?
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ATC is derived from pre-existing PTCs (papillary thyroid cancer by dediffferntiation and acquiring new mutations (like p53, catenin beta 1 andPIK3CA.
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4. How many rare genetic disorders are screened in BC’s newborn screening program?
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22 as well as CF
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Name one advantage of whole genome sequencing over whole exome sequencing in regards to discovery of rare genetic variants? |
Detects SNVs, indels, SV & CNVsin coding/non-coding regions |
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Name 2 of the 4 types of support patients of rare diseases receive according to Carlson etal. |
emotional and informational
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2.Why is it difficult to strain type leprosy bacteria?
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It is an extremely slow-growing, clonal organisms with limited genetic variation. Total of 215 polymorphic sites- mostly SNPs and VNTRs
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3.What are the pros and cons of using spoligotyping to strain type TB?
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CONS: there is more clustering if you use it alone and low discriminiatory power when used alone. Adv: requires small amounts of DNA and does not require viable organisms. Rapid and reproducible results, easy to compare between laboratories.
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5.Why does CA-MRSA pose as a greater health risk than HA-MRSA?
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It replicates faster, is more virulent due tothe production of Panton-Valentine Leukocidin (PVL) toxin, PVL stimulates pore formation in leukocyte membranes and eventually tissue necrosis.
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Whatare the sequencing methods used in analysing the human microbiome?
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16srRNA sequencing and metagenomics shotgun sequencing.
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What are three different ways by which themicrobiota can lead to cancer? |
If chronic inflammation happens in response to dybiosis of the gut microbiota, and his involves tissue destruction and attempts at tissue repair. They can also cause tumors through toxins that induce DNA damage response. Alterations in barrier function may allow luminal bacteria access to the epithelium, where direct contact with host cells enables the bacteria to transfer or to deliverspecific toxins. Some trigger dsDNA damage responses which lead to G2/m cellcycle arrest and to cell swelling. Thirdly, metabolic effects can also come into play such as by modifying estrogen levels (which affects estrogen-dependant cancers), contributing to the activation/inactivating of carcinogens, affect metabolism of alcohol, protein fermentation, bile metabolism which leads to colon and esophageal cancer. These metabolic activities, generated by the oraland intestinal microbiota, may affect carcinogenesis by regulating obesity andobesity-induced inflammation, metabolic activation and inactivation ofcarcinogens (which includes the generation of nitrosamines and the conversionof alcohol to acetaldehyde), metabolic activation or inactivation of dietaryphytochemicals, metabolism of hormones and the generation of tumour-promoting secondary bile acids. |
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Namea gene that is associated with an increased risk of Crohn’s Disease.
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NOD2
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What is one way in which gut microbiota can affect the brain?
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Gut infection triggers immune response and production of cytokines. This is linked to onset of anxiety and depression.
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What are some positive effects of increasing microbiome diversity? Negative effects? |
dunno
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1. What are the three main steps in Type 2 CRISPR?
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1. Incorporation of the spacers - Crispr loci acquires foregin DNA as a spacer
2. Transcription - crRNA are transcribed and form a complex with tracrRNA 3.. Interference. TracrRNA-crRNA complex and Cas9 are guided tocut specific site of foreign DNA |
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2. What was the originally discovered role of CRIPSR-cas in prokaryotes?
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The CRISPR/Cas system is a prokaryotic immune system and provides a form of acquired immunity. Using CRISPR the bacteria snip out parts of the virus DNA and keep a bit of it behind to help them recognise and defend against the virus next time it attacks |
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3.What is one of the dangers of Crispr in vivo? |
It would create heritable changes in the human gene pool. It could lead to the accidental creation of human retrovirus. There is a lack of international-oversight and legistlation on experimental ethics.
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What is pharmacogenetics? |
The study of inherited genetic differences in drug metabolic pathways which can affect individual responses to drugs |
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2. What is the cost of sequencing the genome of someone in 2016 vs. 2001?
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duno |
