Genetic Disease Comprendium

Biology Period 5-7A2011

Ichthyosis!!By: Briana Bolster and Gracie Farrell

• Ichthyosis is a rare skin disorder characterized by dry, rough, scaling and darkened skin.

• Ichthyosis is inherited by a genetic defect that is passed on from parent to child or happens spontaneously

• Males and Females have an even chance of inheriting Ichthyosis but babies and newborns have a higher chance of inheriting it.

• Using moisturizing lotions and drinking lots of water helps to treat Ichthyosis but it is almost always fatal, some babies with Ichthyosis are born still life because they’re skin was to tough and could not

move.

Cystic Fibrosis

• The affected gene, which is inherited from a child's parents, is a recessive gene. With recessive genes, children need to inherit two copies of the gene, one from each parent, in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis, but will be carriers and possibly pass the gene to their own children.

• Although cystic fibrosis occurs in all races, it is most common in white people of northern European ancestry.

• people with CF exercise regularly and may use inhalers or nebulizers that help deliver medication to the lungs.

• Adults with CF may also develop other illnesses, such as diabetes(when blood sugar is too high) or osteoporosis (a weakening of the bones).

• The ends of the toes and fingers may become rounded and enlarged, a condition that's called clubbing.

• Jake and Julia

Happles syndrome causes shortness of the limbs, dry patches of skin, and coarse stringy hair.

Happles syndrome is genetic and it runs through the family. It isn't prone to a certain person.

The disease is treated by a new test called Preimplantation genetic diagnoses (PCD) benefits to figuring out why people are linked to happles syndrome.

Jerry and Ashley

Happles Syndrome

Progeria

It is inherited by a tiny mutation in genes

By Jordan Turner and Taylor Occhino

Doctors treat this disease by going to physical therapy and initiate treatments if its early in the Progeria process

Progeria is effected very rarely to young children

Progeria- Disorder that usually occurs during infant ages that effects characterization by premature ages

Icthyosis• II. Cause: • Usually inherited from one's parents. • Ichthyosis worsens in cold dry weather. • People with ichthyosis have a defect in their skin which causes it to lose moisture. We do not know what this defect is.• III. Treatment: • Do not take hot baths or showers, they dry out the skin. Use warm to cool water. Soap should not be used on your skin because it irritates

and dries the skin. You should use the soap substitute Cetaphil lotion which is available from the pharmacy without a prescription. • Do not rub the skin dry after you bathe. Blot your skin gently then apply an Alpha hydroxyacid lotions. Neostrata 15 AHA Body/Face

Lotion is a very effective treatment for ichthyosis when applied to moist skin after bathing. • The doctor can prescribe an Alpha hydroxyacid lotion for your skin which will dissolve the scales and will increase the moisture content of

your skin. • There is no cure for ichthyosis. This is a life-long condition which can be managed or controlled. • Living in a warm climate often improves ichthyosis. By Max lowery and Ashton Hanley

Lou Gherig’s Disease.(ALS)

• Deteriorates motor neurons that control voluntary muscle movements.

• Men are more susceptible. • Treatments are physical therapy and

there are many medications for it.• Erik and Ty

Multiple Sclerosis

MS affects the ability of nerve cells in the brain and spinal cord to communicate with each other effectively. Nerve cells communicate by sending electrical signals called action potentials down long

fibers called axons, which are contained within an insulating substance called myelin. In MS, the body's own immune system attacks and damages the myelin. When myelin is lost, the axons can no

longer effectively conduct signals. The name multiple sclerosis refers to scars (scleroses—better known as plaques or lesions) particularly in the white matter of the brain and spinal cord, which is mainly composed of myelin. Almost any neurological symptom can appear with the disease, and often progresses to physical and cognitive disability. MS takes several forms, with new symptoms

occurring either in discrete attacks (relapsing forms) or slowly accumulating over time (progressive forms.

Disease onset usually occurs in young adults, and it is more common in women. It has a prevalence that ranges between 2 and 150 per 100,000. MS was first described in 1868 by Jean-Martin Charcot.

Multiple sclerosis (abbreviated MS, known as disseminated sclerosis or encephalomyelitis disseminata) is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad area of signs and symptoms.

There is no known cure for multiple sclerosis. Treatments attempt to return function after an attack, prevent new attacks, and prevent disability.

By: Nick Peters

PROGERIA

BY:BRIGHT / ALEX

What is Progeria?

It’s a really rare genetic condition, this condition makes children

age 7 times faster than normal. This disease occurs in estimated

1 per 8 million people. Most children live in to their early teens

most of them don’t make it to 20 or 21. A child that is 10 years

old will appear to be 70 year old and they still learn at the same

rate as regular 10 years old kids but the body ages is 7 times

faster. This mutation happen by one of their gene is mutated

progeria is the result of dominate mutation. And this disease is

uncureable.