Anemi A Rare Genetic Disorder

Adrian Bleyer was the one to suggest that down syndrome due to a triplication in a person’s genetic code [trisomy]. However, it wasn’t until the late 1950’s that researchers were able to obtain the time, equipment, and funding

The medical advances being made feasible by genetic testing are very exciting. It is possible for people with predispositions for genetic defects to know in advance if they will have a healthy child or not. If they find out there is a problem they can choose to terminate the pregnancy or they can prepare in advance for their child's special needs. There is even new technology called Ex Utero genetic testing. This test is performed on eggs fertilized through in vitro fertilization before they are even put in the mother's uterus. Understanding genes in the developing human will help doctors understand the nature of genetic diseases and may lead to countless other medical breakthroughs. Though it is probably a long way off doctors may one day be able to manipulate genes. If this is possible some genetic problems may be cured.

Tay-Sachs disease is also known as: B Variant GM2 gangliosidosis, GM2 gangliosidosis type 1, Hex A deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha – subunit deficiency (Variant B), sphingolipidosis, and TSD. The main cause of Tay-Sachs is a defective Hex-A gene, and an absence of a significant enzyme known as hexosaminidase. A gene on the fifteenth chromosome codes for the generation of Hex-A, and does not function properly in Tay-Sachs patients. Each person has is intended to have two Hex-A genes. Based on inheritance and genetic patterns, even if one gene is defective, the child will still be healthy. Following the inheritance pattern, if two healthy, carrier parents have a child, then that child will inherit a defective gene

They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia

Sickle Cell Anaemia is a heredity disorder in which the red blood cells are affected by altering into a mutated-form of haemoglobin, most commonly at low oxygen levels. The altered-form of haemoglobin are crescent-shape; which are not flexible and can easily block the blood flow in smaller blood vessels and arteries (refer to figure 1). When both alleles inherited carry the sickle cell anaemia disease; 100% of the body’s haemoglobin will mutate into the sickle (crescent) shape. Sickle cell disease is the codominance of only one inherited sickled allele, in which; the carrier can pass the disorder but does not express any significant symptoms or the anaemia itself. Sickle cell anaemia is an autosomal recessive disorder, thus both alleles must

The disease may be found on a chromosome analysis. There is no said or found cure or treatment for the disease. It’s very rare, but not impossible, to get the disease from parents or grandparents.

Human genetics can play a major role in determining ones physical condition. One slight change in a genetic sequence can cause a disorder that can be life threating to the organism. Most of the genetic disorders are caused by recessive allele. In most cases this recessive allele is undetectable due to the disorder not being presented in the physical appearance. Hypercholesterolemia is an example of a human disorder controlled by a single gene. This human disorder causes high levels of cholesterol in an individual due to the absence of the low-density lipoproteins.

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed.

By using identified gene mutations that are known to cause diseases, asymptomatic individuals are able to discover if they are at risk

There are thousands of rare diseases known to mam kind that only affects one of every couple thousand people. Each of which have their own unique characteristics that define each disease from one another. The one disease that is closest to my last name is the Smith-Magenis Syndrome also known as (SMS). However, 1 in 25,000 are considered to have this condition but are currently not diagnosed with the disease. Although, many officials believe the number is closer to 1 in 15,000. Currently there have been no signs of this disease being inherited through genetics, this disease is caused by a deletion of a region of chromosomes. The Smith-Magenis Syndrome is a development disorder that has multiple effects on an infected person through physical appearances, speech and sleep disorders, and behavioral problems.

I learned that genetic mutation is the changes in the DNA sequence. Genetic mutation may cause the malfunction of protein and result in a medical condition. For example, exposure to UV light may result in skin cancer. There are different types of mutations and have different effects on protein. For example, Missense, Nonsense and Frameshift mutations are three types of the point mutation (Lewis, 2015). I also learned the causes of genetic mutation. The genetic mutation can be divided into hereditary mutations and acquired (somatic) mutations. “A mutation can occur spontaneously

During the same year as Franklin’s discovery, Watson and Crick determined that the chemical rungs that join the two helical strands are made up of two base pairs. The two base pairs are adenine (A)-thymine (T) or guanine (G)-cytosine (C). They also realized that the order of those two chemical base pairs that joined the two helical strands “spelled out” the genes and determined the variation of traits in all living organisms. In addition to their already impressive discovery, they also realized that the two helical strands could be separated for copying, which facilitated the passing on of genetic information between each generation. A few years following this discovery by Watson and Crick, biochemists Marshall Nirenberg and Har Gobind Khorana determined the reason for genetic mutations. They occur when the sequence of the chemical bases on the DNA that determine the order of amino acids that link to create a protein is incorrect. These mutations can cause all sorts of problems, such as diseases. However, sometimes these mutations are beneficial and allow organisms to better adapt to their environment.

There are more than 10,000 recorded genetic diseases that are passed on through generations affecting millions of people, often with fatal or severely debilitating illness. Scientist worldwide are working to crack the genetic codes to identify genes linked to disease, diagnose abnormalities, and discover new treatment. “The Genetic Disease Foundation is a non-profit 501c (3) organization that established since 1997 by patients and families affected by genetic disorder” (GDF, 2010). The Foundation furnish education programs for everyone and physicians to enhance the knowledge about genetic diseases and the necessity for and availability of testing for many disorders. In addition, the research designed to enhance genetic testing and to find out ways to treat, cure and ultimately avoid genetic disorders. GDF mission is to help prevent and treat genetic disease by supporting research, education and counseling.

Genetic mutations have been linked to disorders for many years thanks to the advancement of science. Because of multiple studies, scientists have been able to isolate the exact places in the DNA sequence where these alterations have occurred and characterized the physical manifestations as a result of such variations. Although the incidence of some of these disorders are one in a million, their distinctive physical or mental representations have been well catalogued and documented.

List a few research studies in which fruitless searches for new genetic information were made.