What Are Some Examples Of Hereditary Diseases – When certain genes are defective, they can cause diseases that can be mild or severe; These are genetic diseases.
Each gene programs the production of a specific protein. If the gene is changed, the production of this protein is interrupted. For example, it may be missing or non-functional. And this protein dysfunction can lead to disease. We call these genetic diseases. They can be mild or severe and can occur at any age. Thus, both color blindness and Duchenne muscular dystrophy are genetic diseases. By definition, all defective genes can be passed on to our offspring.
What Are Some Examples Of Hereditary Diseases
Note: Many diseases that are not entirely genetic can be caused by a genetic predisposition combined with environmental factors. A genetic mutation is then one of several risk factors; a person can carry the gene but never develop the disease and vice versa. This is the case, for example, in various forms of breast cancer.
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Disease Types Concept Map/outline
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Dr. According to Ng Zhi Xiang, differences in our ethnicity may be related to susceptibility to various diseases. For example, Asian Indians are at higher risk for diabetes and heart disease, and Malays are at higher risk for hypertension and obesity.
Molecular Diagnosis Of Genetic Diseases. Methods In Molecular Medicine Series. Edited By R. Elles (series Editor: J. M. Walker). Totowa, Nj: Humana Press. 1996. Pp. 356. $69.50 (spiral Bound Paperback).
In addition to contributing to different traits and appearances, single nucleotide polymorphisms (SNPs) can also contribute to different susceptibilities to certain diseases and different responses to certain drugs.
“Regarding the change in drug response, it may facilitate drug development. This is called personalized medicine. explained Dr. Ng.
Personalized medicine is when we do genetic testing on an individual’s SNPs, and based on that information, we can choose the right medicine for the person.
Single gene disorders involve only one specific gene and only one gene contributes to the development of this disease. For example, here we discuss genetics and sickle cell anemia. Cystic fibrosis is another example of a monogenic disorder.
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In the case of polygenic disorders, genetic variation in multiple genes may contribute to the development of the disease. This is very common for metabolic diseases like obesity, diabetes, and heart disease.
For about 10 years now, the BRCA1 and BRCA2 genes have been a frequent topic of discussion. This is because these two genes are associated with breast and ovarian cancer. Variations in these two genes can increase the risk of breast and ovarian cancer by up to 50%.
Heart disease “Whenever we talk about heart disease, there is always a gene on my mind. This is cytochrome P450 1A2. said Dr. Ng.
Let’s go back to the cytochrome P450 1A2 gene. There are two variations of this gene: the *1F allele (poor caffeine metabolizers) and the *1A/*1A allele (extensive caffeine metabolizers).
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Studies have found that slow caffeine metabolizers who drink coffee are more prone to heart disease than extensive caffeine metabolizers. Perhaps knowing if you are a slow or fast caffeine metabolizer can help you adjust your daily coffee intake.
“Currently, studies have identified more than 65 genetic changes in diabetics.” said Dr. Ng. These genes generally help control blood sugar levels in our body.
For example, genes involved in the production of glucagon and insulin, genes involved in the glucose transporter (responsible for transporting sugar in our body).
Diabetic retinopathy is a microvascular complication of diabetes that occurs when the blood vessels in the retina are damaged. This can lead to blindness because the retina is the light-sensitive tissue at the back of the eyes.
Examples Of Genetic Diseases Where Nmd Modulates The Phenotype
Advanced glycation end product (AGE) levels are elevated in diabetic patients with high blood sugar. AGEs are harmful compounds formed when protein or fat combine with sugar in the blood.
In the presence of high levels of AGE protein, the inflammatory process is likely to occur via the AGE receptor, also known as AGE.
A genetic variation of rAGE is the 224A allele, which is significantly associated with diabetic retinopathy. Due to this discovery, detection of the 224A allele could potentially be useful for diabetics to identify their genetic risk for diabetic retinopathy.
You can read the first part of the webinar here and the summary here. You can also watch the video here. Enjoy! Causative genetic changes can be inherited or can be caused by certain environmental exposures. Genetic changes can also occur due to errors in cell division.
Pdf) Advances In Computational Methods For Genetic Diseases
Yes, it is a genetic disease. It is caused by changes in genes that control cell growth and reproduction. Cells are the building blocks of your body. Each cell contains a copy of your genes that acts as an instruction manual.
Genes are sections of DNA that carry the instructions for making one or more proteins. Scientists have found hundreds of genetic and DNA changes (also called variants, mutations, or changes) that help them form, grow, and spread.
Whether it’s a random error or a cancerous cause, DNA changes can occur during our lifetimes and even in the womb. Although most genetic changes are not harmful on their own, the accumulation of genetic changes over many years can turn healthy cells into normal cells. the vast majority of cases occur accidentally as a result of this process over time.
Itself cannot be passed from parent to child. And genetic changes in tumor cells cannot be passed on. However, if a genetic change that increases risk is present in the egg or sperm of one parent, it can be passed on (inherited).
What Are Single Gene Disorders?
The child will be at increased risk of developing a gene, infantile breast, and several others.
That is why it sometimes seems to run in families. Up to 10% of all s can be caused by inherited genetic changes.
Inheriting an associated genetic change does not necessarily mean that you will get it. This means your risk of getting it increases.
A familial syndrome, also called an inherited syndrome, is a rare disease in which family members have a higher than average risk of developing a certain type or types. Familial syndromes are caused by inherited genetic variants in certain related genes.
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People with some familial syndromes tend to develop it at a young age or have other health conditions.
For example, familial adenomatous polyposis (FAP) is a familial syndrome caused by certain inherited changes in the body.
Gene. People with FAP have a very high chance of developing colorectal cancer at a young age, and other types are also at risk of developing it.
But not everything that seems to “run in families” is due to familial syndromes. Shared environments or habits, such as exposure to air pollution or tobacco use, can also lead to the development of the same type among family members.
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