Canavan disease is an autosomal recessive gene linked neurological birth disorder in which the white matter of the brain degenerates into spongy tissue filled with microscopic fluid-filled spaces. Canavan disease is caused by mutations in the gene for an enzyme called atrophy. Both parents of a child must be carriers of the defective gene in [...]

my video is at http://www.youtube.com/watch?v=3LTr4CjslpI Hemophilia is a genetic disorder that stops your blood from clotting. if you were to get a cut with hemophilia you would have to go to the hospital because you would just keep bleeding. there are 2 forms of hemophilia, A and B. Hemophilia A, also known as hemophilia, is [...]

GBGA Cystic fibrosis, or CF, is an inherited disease of your secretory glands that causes thick, sticky mucus to build up in the lungs and digestive tract. CF is caused by a mutation in the gene for the protein, cystic fibrosis transmembrane conductance regulator (CFTR). It develops when neither gene works normally and is therefore [...]

http://www.youtube.com/watch?v=O8iyyi0OdRQ  Williams Syndrome (also named Williams-Beuren Syndrome) is a genetic condition that is present at birth and can affect anyone. It is caused by the omission of about 26 genes from the long arm of chromosome 7, and can lead to problems with development. Williams Syndrome occurs in about 1 in 8,000 births and there is no cure. Williams Syndrome [...]

http://www.youtube.com/watch?v=pvVsVphvTU4 Shwachman-Diamond Syndrome Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that occurs in about one in 50,000 births. Shwachman-Diamond syndrome is an inherited condition that affects many parts of the body. More commonly, it affects the bone marrow, pancreas, and skeletal system.   Common symptoms of Shwachman Sydrome include: Exocrine pancreatic diseases: pancreatic diseases, Haematologic [...]

Wilson’s Disease Podcast Wilson’s Disease was discovered by Dr. Samuel Alexander Kinnier Wilson in 1912. Wilson’s Disease is autosomal recessive disease where it makes the liver no longer able to filter out the copper in your body. Therefore all the copper goes into your bloodstream and get absorbed by your organs. About 1 in 100 [...]

Cri Du Chat Syndrome (CCS) is a rare genetic disorder caused by the missing part of chromosome 5. It was discovered by Dr. Jerome Lejeune in 1963. However the partial deletion of the short arm of chromosome number 5, also called “5p monosomy”, was not discovered until 2002 when DNA tests were done with CCS patients. [...]

bio project powerpoint The Long QT Syndrome is a heart rhythm disorder that is very rare and is usually affects children or young adults. It is a disorder of the heart that may cause you to get a sudden, dangerous heart rhythm called Arrhythmia .It causes fast, chaotic heartbeats that can cause a sudden fainting [...]

Stickler PictureStickler’s Syndrome is a genetic disorder caused by a mutation in either the COL2A1, COL11A1, or the COL11A2 gene, which are collogen genes. Symptoms of this disorder may include, but are not limited to, facial defects, eye problems (such as seeing) and hearing troubles. This syndrome was first discovered and characterized by Gunnar B. [...]

Ataxia Telangiectasia is an autosomal recessive inherited disease caused by a defect in the ATM gene, on the 11th chromosome. The ATM gene usually helps control the activity of the nervous and immune systems, and has proteins that alert the cell to damaged DNA, so the cell will fix or destroy it. Some of the [...]

Movie on 2010-11-03 at 18.15 Marfan syndrome was named after the French doctor who first described the symptoms, Bernard J.A. Marfan. This syndrome impacts the connective tissue, and can cause disorders in the body’s skeleton, eyes, heart, blood vessels, joints, and other body systems. The chance of getting this is 1 in 5,000, and it [...]

GAMA.ppt Apert Syndrome, also known as Acrocephalosyndactyly, is a genetic disease in which the creases of the skull close earlier than normal. This mutation in the gene called fibroblast growth factor receptor 2 leads to deformations in the head and face. Other symptoms include webbing between some of the individuals’ toes and fingers as well [...]

Turner’s Syndrome is a medical disorder that can only occur in girls because they only have two X chromosomes. The disease consists of one X chromosome’s parts missing or not there altogether. Boys with this disorder do not finish developing because they have an X and Y chromosome. Without the X chromosome, no one could [...]

Huntington’s disease is a neurodegenerative genetic disorder. This disorder causes muscle spasms and eventually leads to dementia. Huntington’s is more common for those of western European descent rather than those of African or Asian descent. This disease was first documented by Charles Oscar Waters in 1842. The first thorough description was written by George Huntington [...]

GVMA. Neurofibromatosis is a genetically-inherited disorder with an autosomal dominance pattern of inheritance and is characterized by multiple skin changes, including brown spots on the skin; freckling in the groin and underarms, and the forming of noncancerous tumors. The person known to have discovered neurofibromatosis was Fredich Daniel van Recklinghausen in 1882. Neurofibromatosis is generally [...]

Tay-Sachs Disease Podcast Tay-Sachs Disease (TSD) was named after Warren Tay, who found the red spot in the retina of the eye. And also Bernard Sachs, who described the cellular changes of Tay-Sachs. This disease was founded around the years of 1881 to 1887. The disease causes a relentless deterioration of mental and physical abilities [...]

Moebius Syndrome Podcast Moebius syndrome affects the sixth and seventh cranial nerves; these are found in the brain. There may be skeletal involvement causing hand or feet to be deformed or clubbed. Paul Julius Moebius, a neurologist discovered this syndrome in 1888. Moebius syndrome was a disease he identified as “nuclear atrophy”. This syndrome is [...]

Rubinstein-Taybi Syndrome Podcast Rubinstein-Taybi Syndrome was first identified in 1963 by Jack Herbert Rubinstein and Hooshang Taybi. This syndrome is gender neutral and doesn’t effect any certain race. It’s uncommon occurring in an estimated 1 in 100,000 to 125,000. Symptoms of Rubinstein-Taybi Syndrome are: mental retardation, short stature, broad thumbs and toes, beaked nose, high [...]

 GJMI.wav (link to podcast) Down syndrome was first described in 1866 by John Langdon Down. Down syndrome is a disorder caused by an extra 21st chromosome. There are two variations of Down syndrome: mosaic and translocation Down syndrome. Translocation Down syndrome is the only genetic disorder of the three that can be inherited from genes. There [...]

Video: GKLA Sickle cell anemia causes the body to make sickle-shaped, or crescent-shaped, red blood cells which are stiff and sticky, which causes them to form clumps and get stuck in the blood vessels. Red blood cells contain hemoglobin attracts the iron in oxygen. Sickle-shaped red blood cells contain abnormal hemoglobin, so they can’t carry [...]

Podcast: http://www.youtube.com/watch?v=HV7prJ-RDHg Progeria is a rare disorder characterized by premature aging in a child. Dr. Jonathan Hutchinson recorded the first case of progeria in 1886 and the second by doctor Hastings Gilford in the year 1904. Progeria affects one in 4-8 million births; can be male or female and any race. This disease causes accelerated [...]

GMST.wma J. Purdon Martin and Julia Bell were the first to discover Fragile X disease in 1943 after the couple had eleven severely retarded males. Fragile X syndrome is the most common inherited cause of mental impairment. Although both males and females can have this disease, it is more common among males. The syndrome occurs [...]

GJF Barth syndrome is a rare genetic disorder that is considered very serious.  It is estimated to occur in approximately 1 out of 300,000 births and primarily affects males. It was named after Dr. Peter Barth in the Netherlands when he discovered it in 1983. Barth syndrome is caused by a mutation in the tafazzin [...]

Galactosemia was discovered in 1908 by the physician Von Ruess. It is a rare disorder that affects the GALT gene, making the child incapable of producing the GALT enzyme needed to break down galactose, a sugar found in dairy products. Americans and Caucasians have a 1 in 30,000-60,000 chance of inheriting this disease, while 1 [...]

GEY.wave Blue rubber bleb nevus syndrome was first reported by G. G. Gascoyen in 1860. However, William Bean first used the term BRBNS, also known as bean syndrome. This disease affects both sexes and races equally. Less than 180 cases are reported worldwide. In blue rubber bleb nevus syndrome, nevi show up on your internal organs. [...]

Neimann-Pick Disease Podcast Niemann-Pick disease is many metabolic disorders known as the leukodystrophies also known as lipid storage diseases. This is where harmful amounts of fatty substances build up in the brain, liver, spleen, lungs, and bone marrow. Albert Niemann was the first person to discover Niemann-Pick disease in 1914. Symptoms may include the following: [...]