Rare Genetic Disorders: Fabry Disease

described the characteristics and symptoms of this disease and what exact organs it relates to.

Fabry Disease occurs due to a disorder in the lysosomes. Lysosomes typically serve as recycling centers within cells; they contain enzymes to digest several different molecules. In Fabry Disease, the affected individual has a mutation in the GLA gene. The GLA gene provides code to produce alpha-galactosidase A. Alpha-galactosidase A is an active enzyme in lysosomes to break down globotriaosylceramide, a fat consisting three sugars attached to a fatty substance. The mutation in the GLA gene can cause an absence or decrease in the amount of alpha-galactosidase A produced. This change in the amount of enzyme produced prevents breakdown of the fat effectively and the fat begins to build up in excess inside the cells. The accumulation of globotriaosylceramide then damages cells and leads to the symptoms seen in Fabry Disease.

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

Just from the name, you can guess that this disease concerns ulcers. But does this entail anything else? Let us find out in this article about the disease that still has its causes unverified by the world.

The focal point of this journal article focused on how the inherited genetic disease; Sickle cell anemia, is influenced by ethnicity and ancestry; two key categories that must be considered when explaining genetic associations and comparing traits amongst a population. This article compared the genetic profiles of African Americans with sickle cell disease to individuals of the Caucasian/ European descent and African descent. They discovered that although there is slight genetic comparison between ethnicity, there are more similarity in relation to ancestry and the Sickle cell trait. Three ancestry’s that resonated the most were the Mandinka’s, Yoruba’s, and Bantu from West Africa. In this study, researchers combined genome data from different

Favism disease, also known by its more scientific name of Glucose 6 Phosphate Dehydrogenase Deficiency, is just that. Affecting 400 million people in the Mediterranean and Africa, it is an inherited enzyme deficiency that is caused by a genetic mutation, where the body lacks a kind of glucose, specifically Glucose 6 Phosphate Dehydrogenase (G6PD) in the blood. G6PD is prevalent in every cell of the body, especially in red blood cells, where it cleans up free radicals in the cells. Free radicals are chemical elements looking to pair up with other chemicals, but can cause chemical reactions within cells that cause premature cell death. Free radicals disrupt cellular chemistry, and are thought to be a major cause of aging. In a normal body, there

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.

Sickle Cell Disease is a genetic disease caused by a SNP (Single Nucleotide Polymorphism). Which means it is caused by a single letter gene mutation. Through the advent of CRISPR/Cas9 the disease might be cured. It is a serious reality and will enter medical trials within a handful of years. Sickle Cell Disease is an inherited disease that predominantly affects people of African descent. Red Blood cells become rigid and sickle shaped, causing blockages and pain crises. In cases of Sickle Cell Disease the Beta-Globin are mutated causing faulty and deformed Hemoglobin proteins thus creating sickled and short-lived Red Blood Cells.

Fabry disease is an inherited disorder which is caused from abnormal deposit of globotriaosylceramide, a particular fatty substance, in blood vessel walls throughout the body. Some symptoms that may be noticed are pain in the hands and feet, small red spots normally found between belly and knees, cloudy vision, hearing loss, ringing in the ears, and a decreased ability to sweat. The only FDA approved treatment for this disease is enzyme replacement therapy (ERT). This replaces the enzyme that is not working correctly, which allows the body to break down fatty substances the way it should. This disease is passed down through genes from parents. You either were born without alpha-galactosidase A or it doesn’t perform its duty.

Neurofibromatosis is a genetic disorder caused by a gene mutation on chromosomes 17 or 22. Beginning in the nervous system, this disorder can create multiple tumors throughout the body, although for NF1, tumors are mostly located on the spine. But NF2 can also cause tumors to grow on the cranium, which can damage sight or hearing. There is also a third type of neurofibromatosis, but little is known about it.

Gaucher disease is an autosomal recessive disease that occurs in about 1 in 20,000 births. It is one of the highest prevailing Lysosomal Storage Disorders and it involves many organs including but not limited to the spleen, liver, brain, lungs and bone marrow. In the lysosomes part of the cell the enzyme glucocerebroside does not work properly allowing it to build up toxic levels in the various different organs. It is an inherited genetic disorder so in order for a child to be born with it, both parents must give the child a copy of the mutated gene. It was first discovered by Dr. Philippe Gaucher in 1882, hence the name Gaucher disease.

NGLY1 deficiency is a rare genetic disorder that was first discovered in 2012 and has been diagnosed in less than 100 individuals worldwide. This disease is caused by a lack of the enzyme N-glycanase 1, which helps break down defective proteins, explained by Clement Y. Chow, PhD, Assistant Professor in the Department of Human Genetics at the University of Utah. People with this disease tend to experience global developmental delays, seizures, difficulty with movement, problems with liver function, and the difficulty to produce tears. The symptoms of this disease can vary since not all the information has been gathered about NGLY1 deficiency.

Iris’ eyes dilated with terror as she held her newborn. “My baby!” Iris wept. “What’s wrong with my baby?!”

Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that generally leads to bone marrow failure. While it is rare, only effecting less than 2% of the world's population is more commonly seen in South Africa. It is named after the Swiss pediatrician who first published information after clinical observations in 1927. FA is the result of a genetic defect in a cluster of proteins responsible for the DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia and around 90% develop bone marrow failure by the age of 40. About 60–75% of FA patients are plagued with congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Also around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Life expectancy for someone with Fanconi's Anemia is approximately 22 years.