HB+Genetics+Project

=Marfan Syndrome= http://www.ygyh.org/marfan/whatisit.htm

symptoms
people with marfan syndrome have weak connective tissues in the heart, skeletal system, eyes, and other organs. The aorta may enlarge, the spine may curve and the eyes may dislocate. These symptoms vary within Marfan syndrome and can range from mild to severe

incidence
affects both sexes and all ethnic groups but it is reatively rare. Only 1 in 5,000 people are diagnosed with the disease.

testing and screening
physicians familiar with the disease diagnosed based on the coexistence of several features. There are no DNA based tests for diagnosis, because each case of marfan syndrome has their own unique mutation of fibrillin gene.

cause
its a genetic mutation caused by a mutation in the fibrillin gene. The mishappen fibrillin produced from the mutated gene weakens the tendons, ligaments and other connective tissues in the body.

treatment
treatment for cardiovascular problems is critical, and the aorta must be monitored for weakness. Drugs can help reduce the stress experienced by the aorta, but surgery may be necessary to help reconstruct the vessel.

Tay-sachs KAT

 * inherited disorder that cause cells to deteriorate and die
 * protein: HEX A; within it there are two part
 * lysosomes are the recycling plants of the cells
 * sometimes the sub unit of HEX A is missing and problematic
 * the nerve cells cant be recycled and causes death of cells
 * there are 90 mutations of this gene that can cause tay-sachs
 * 50% chance they will be carriers, 25% of being affect and 25% chance of avoiding disease altogether

Cystic Fibrosis (MASSEY)

 * comes from mutation of gene in chromosome seven
 * CFTR is acronym for mutated gene
 * sometimes there is nothing there to monitor flouride in and out
 * when body recognizes faulty protein, it kills membrane.
 * sweat becomes more salty, causes body to orbsorb sodium
 * water and chloride fill the cell which prohibits transportation

pku (DEDE)

 * PKD when there are multiple cysts inside a person's kidenys.. leads to kidney failure, kidney no longer filters toxins out of the blood
 * genes: PKD1 and PKD2... causes cysts to grow
 * a mutation in the genes leads to PKD
 * over the years there are spontaneous mutations
 * when there are two mutated copies of PKD1 and PKD2 the cysts form in the kidneys, all kidney cells have the mutation.
 * mutated kidney cells block off new non-mutated kidney cells.
 * only need to inherit one of the PKD genes from a parent, 10% of cases come from spontaneous mutations
 * recessive--> need one mutated gene from each parent.

Sickle Cell Disease (RJ)

 * disease from red blood cells
 * caused by a mutation in the beta globin
 * beta and alpha combine to make hemo which combines with oxygen to make red blood cells
 * red blood cells turn into a banana shape
 * there is extreme pain because there is no oxygen, pain to spleen and lungs
 * extreme fatigue
 * 25% chance child will get it, recessive disease

Huntington Disease (BLAIR)

 * inherited, dominant only need one copy of mutated gene to get it
 * child has 50% chance of getting
 * symptoms: mood swings, depressions, loss of memory
 * no cure, but pills can be taken to curve symptoms
 * several ways to test for it: DNA tests, family pedigrees, phsyical characteristic testing
 * kills brain cells

Muscular dystrophy (EMILY)

 * weakness in muscles, individual muscle cells die in body
 * sex linked, x-linked
 * males get it from mothers, females are carriers
 * small mutation of X chromosome
 * proteins are destroyed--> muscles being destroyed
 * body fat and connective tissues take up the space of muscles

Hemophilia (BILL)

 * when you get cut, blood flow isn't stop by a clot
 * you continue to bleed for days or weeks
 * clot forms from clotting factors in blood
 * factor 8 and 9 are what caused the blood to clot, mutations in those factors cause the clots to be dislodged
 * hemophilia type A is from factor 8: severe hemophilia
 * mostly in boys because it is from the X chromosome
 * treated through injections that add clotting agents to blood
 * 18,000 people in US have it

Neurofibromatosis (FAITH)

 * there is no cure for NF1 or NF2
 * NF1 is usually in children, NF2 is generally in adults
 * 1 effects periphial nervous system
 * mutation of gene 17 causes NF1

Polycystic Kidney Disease (CAROLINE)

 * normal kidney usually filters toxins in the blood
 * this disease leads to kidney failure because of cists and toxins no longer filtered from blood
 * PKD1, PKD2 different types of mutated genes.
 * everyone has the genes, but if one is mutated... uh oh
 * there are usually spontaneous mutations
 * if there are mutated copies, the copies are the cause of the disease
 * whole kidney shuts down in fatal circumstances

Hemochromatosis (KEATON)

 * some people with mutation it won't affect them
 * excess iron that is created gets placed in the lungs
 * symptoms: pain in chest, abdominal pain, can develop diabetes or liver disease
 * recessive disorder, must get a mutated gene from father and mother
 * most common disorder in US, 1 in 4 keltic people
 * blood tests can discover disease, can be treated by blood donations.

Beta Thalassemia (CHANDLER)

 * missing a beta globin on chromosome 11
 * results in death of red blood cells
 * turns into severe anemia
 * complications lead to death before age of 30
 * need to catch it early
 * without treatment, children will grow slowly, spleen is big and have a rat like face.
 * found more in the east (asia, africa)
 * treated by regular blood transfusions
 * transfusion therapy, removal of excess iron

Fragile X (PATRICIA)

 * some people are hyper active and others not
 * most people have long face, but physical problems not always prevelant
 * it is inherited its X links is recessive inherited
 * fragile X males cant give it sons, but can daughters
 * chances increase with each generation
 * no cure but research is being done
 * medication can cure some mental side effects