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*Inheritance Pattern
-Inherited in autosomal recessive pattern

*‎Cause:
-Dysfunctional version of CFTR gene (encodes CFTR protein)
-‎CFTR protein doesn't get produced enough, mucus becomes thick and dehydrated.

*Effects
-Build up of mucus in lungs, digestive tract, pancreas
-‎Lungs: Formation of scar tissue and cysts
+Leads to chronic coughing, wheezing

-Pancreas
+Affects insulin production
+‎Cystic Fibrosis-related diabetes

-Digestive tract
+Diarrhoea, malnutrition, poor growth, weight loss

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Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.

Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.

Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development. Affected people have two normal copies of chromosome 13, plus an extra copy of chromosome 13attached to another chromosome. In rare cases, only part of chromosome 13 is present in three copies. The physical signs and symptoms in these cases may be different than those found in full trisomy 13.

A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.

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- Some alzheimers patients are under 65, but most patients 70+

- costs of dementia

- loss of jobs in younger patients

- annual cost at around $12000

- During the course of the disease proteins build up in the brain to form structures called plaques and tangles. Connection between nerve cells are lost. Nerve cells die and brain tissue volume is reduced.

- Shortage of some important chemicals in their brain

- Signals are not transmitted as effectively

- These genes reinforce a critical role for special cells in the brain(microglia; responsible for clearing up debris including damaged cells and proteins.

- Alzheimer's disease caused my mutation of 1 of 3 genes: APP PSEN1 PSEN2

- when genes altered, large amount of amyloid beta peptide produced in the brain, peptide form clumps called amyloid plaques in the brain

- alzheimers disease is classified into 2, early onset and late onset, early onset = b4 65

- late onset = after 65

- early onset form less than 5% of all cases

- early onset form is autosomal dominant
- effects include:
- difficulty with language
- behaviour change
- problems with navigation

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-What kind of mutation is it?
Spontaneous mutation
-What is the mutation?
A mutation in the FGFR3 gene causing it to be overactive
-Any causes?
20% of cases are hereditary and follow a autosomal dominant pattern
-Effects of the mutation
Causes disproportionate dwarfism (short stature that’s significantly below average for age short arms and legs, especially the upper arms and thighs, in comparison to body height/short fingers in which the ring and middle fingers may also point away from each other/a disproportionately large head compared to the body/ an abnormally large, prominent forehead/ an underdeveloped area of the face between the forehead and upper jaw
-Negative inpacts
decreased muscle tone, which can cause delays in walking and other motor skills
apnea, which involves brief periods of slowed breathing or breathing that stops
hydrocephalus (a buildup of fluid in the brain)
spinal stenosis, which is a narrowing of the spinal canal that can compress the spinal cord

-Signs and symtopms
Hydrocephalus or and abnormally large head during pregnancy
X-rays or blood tests after childbirth
-Other interesting information
Treatment is symptomatic

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Huntington Disease is a progressive brain disorder that cause uncontrollable movements , emotional problems and loss of thinking ability

Mutations in the HTT gene cause Huntington Disease. HTT gene provides instructions for making a protein called huntingtin, which plays important role in nerve cells (neurons) in the brain.  HTT mutation involves a DNA segment (CAG trinucleotide repeat) that is replicated more times than usual, leading to an abnormally long protein produced. It is cut into smaller pieces and accumulates in neurons, disrupting it's functions.

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Spinal muscular atrophy, or SMA, is a genetic disorder that affects the control of muscle movement.

Type I:(Werdnig-Hoffman disease) Severe form of disorder evident at birth

Type II: Develops in children aged 6-12 months

Type III: (Kugelberg-Welander disease) Develop between early childhood and adolescence.

Type IV: Occur after age 30

Frequency: Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people.

Symptoms:

Weakness and wasting (atrophy) of muscles

Affects movements like crawling, walking, sitting up, and controlling head movements.

Severe cases: Breathing and swallowing are affected.

Note: These symptoms vary for the four different types of SMA.

Genetic Changes & Causes: Mutation in genes called SMN1, UBA1, DYNC1H1, and VAPB genes cause SMA. Extra copies of SMN2 gene modify severity of SMA.
Inheritance Pattern: All 4 types are inherited in an autosomal recessive pattern. Both parents are carriers, each carrying one copy of the mutated gene SMN1, buttypically do not show signs and symptoms.

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- Genetic mutation
- Mutation in the betaglobin gene (single nucleotide substitution in the codon for amino acid 6, converting a glutamic acid codon to a valine codon)
- Symptoms in Infants: fever, swelling of hands and feet, pain in chest, abdomen, limbs and joints)
- Symptoms in Children: Pain (severe, acute and chronic), fatigue and shortness of breath, Irritability, Jaundice
- Symptoms in Adulthood: delayed puberty, severe joint pain, progressive anemia, leg sores, gum disease and vision problems
- People at risk for inheriting the gene descend from people who are or were originally from Africa or parts of India and the Mediterranean (due to sickle cells ability to make red blood cells resistant to malaria)

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Any causes?
-In Trisomy 21, cell has 3 copies of chromosome 21 instead of usual 2 copies

Effects of mutation, Symptoms/signs
-Variety of birth defects - Heart, digestive anomalies
-Increased risk of medical conditions - Gastroesophagal reflux
-Increased risk of hearing, vision problems
-Delayed development
-Behavioral problems e.g. OCD, attention problem, increased risk of alzheimers, stubborness

Interesting info
-Not inherited
-Caused by random event during formation of reproductive cells in a parent/cell division early in fetal development

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Trisomy 13, also called Patau Syndrome, is a chromosomal condition associated with several intellectual disability and physical abnormalities in many parts of the body. It occurs in about 1 in 16000 newborns. Although women of any age can have a child with trisomy 13, the frequency of this condition increases as the woman gets older.
Causes
1. Having 3 copies of chromosome-13 in each cell in the body instead of the usual two copies. --> disrupts normal course of development
2. Part of chromosome-13 becomes attached to another chromosome during formation of reproductive cells/very early in fetal development. These people have 2 copies of chromosome 13, + extra copy of chromosome 13 attached to another chromosome.
Effects
1. Heart defects, brain/spinal cord abnormalities, poorly developed eyes, e1xtra finger/toes, opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), weak muscle tone.