Genes
Genes are DNA (deoxyribonucleic acid) segments found inside every human cell. They’re so little that they can only be seen with a strong microscope. DNA is made up of four molecules that combine to form pairs in various configurations. The combinations generate codes for several genes. Each person has approximately 20,000 genes. Different qualities are coded for by the genes, such as eye color, body type, and male or female sex.
What Exactly Is a Chromosome?
Inside each cell, DNA is firmly wrapped into structures known as chromosomes. Every normal cell has 23 chromosomal pairs (for a total of 46):
Males and females share 22 pairs of chromosomes. These are known as autosomes (pronounced: AW-tuh-soamz). The 23rd pair, the sex chromosomes, determines the gender of a human.
What Is Genetics?
Genetics is the study of genes. Our genes carry data that gets delivered from one generation to the next. For example, genes are why one child has golden hair like their mother, while their sibling has brown hair like their father. Genes also determine why some illnesses run in families and whether babies will be male or female.
What are Genetic Disorders
When a mutation (a negative modification to a gene, also known as a pathogenic variation) damages your genes, or when you have an insufficient amount of genetic material, genetic illnesses emerge. DNA (deoxyribonucleic acid) makes up genes, which carry instructions for cell activity as well as the features that distinguish you.
Each biological parent gives you half of your DNA, and you may inherit a gene mutation from one or both parents. Genes can change as a result of problems with the DNA (mutations). This may increase your chances of developing a genetic condition. Some cause symptoms from the moment they are born, while others grow over time.
The following are examples of genetic disorders:
Chromosomal: This type impacts the structures within each cell that hold your genes/DNA (chromosomes). People are going missing as a result of these circumstances or having chromosomal material that is duplicated.
These illnesses are complex (multifactorial), as they are caused by a mix of gene mutations and external factors. Chemical exposure, nutrition, some medications, and cigarette or alcohol usage are among them. Single-gene (monogenic) diseases are caused by a single gene mutation.
Different Genetic Disorders
Albinism
Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair, and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism.
There is no cure for albinism, but eye conditions are treatable. In addition, treatment can protect the skin from other damages such as sunburn.
Angelman syndrome
Angelman syndrome is a genetic condition. Most people with Angelman syndrome have a gene called UBE3A that is absent or faulty. When this gene is faulty or missing, nerve cells in the brain are unable to work properly, causing a range of physical and intellectual problems.
Ankylosing spondylitis
Ankylosing spondylitis is a kind of arthritis that affects the joints and ligaments of your spine. ‘Ankylosing’ means stiff and ‘Spondylolisthesis’ means vertebra.
Apert syndrome
Apert syndrome is the mutation, usually evident at birth, causes the bones of the skull to fuse together much earlier than usual before the brain is fully grown. Pressure from the brain as it grows pushes the bones of the head and face out of shape. This brain compression can affect a child’s intellectual development.
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth (CMT) disease is an inherited neurological condition that causes problems with the muscles of your feet, legs, arms, and hands. Although there is currently no cure, people with CMT can use a variety of therapies and strategies to help manage their symptoms.
There is no cure for CMT, but physical and occupational therapies, braces and other orthopedic devices, and orthopedic surgery can help people cope with the disabling symptoms of the disease. In addition, pain-relief drugs can be prescribed for individuals who have severe nerve pain.
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia, or CAH, is an inherited group of conditions that affects the adrenal glands. These glands, which sit above the kidneys, make hormones such as cortisol, aldosterone (which helps to regulate salt levels in the body), and androgens (male sex hormones). In many cases, a person who has CAH makes too many androgens and not enough cortisol and aldosterone
Its treatment includes medication, surgery, and psychological support. Treatment should be started as earliest as possible to reduce the symptoms.
Down syndrome
Down syndrome occurs when a baby is born with an extra (third) copy of chromosome 21. It is a genetic condition and is not an illness or a disease.
Treatment: Treatment typically includes three types of therapies that are physical, speech, and occupational therapy. It will help children to develop the skills they need the most.
Hemochromatosis
Hemochromatosis is an inherited condition that causes the body to absorb and store too much iron. In some cases of hemochromatosis, the extra iron can lead to organ damage.
Treatment: Treatment of hemochromatosis can improve symptoms and prevent complications. Phlebotomy removes extra iron from the blood and is inexpensive, simple, and safe on the other end.
Neurofibromatosis
Neurofibromatosis is a genetic condition characterized by the growth of neurofibromas. These are a type of tumor that is usually benign, or non-cancerous, although in rare cases they can be cancerous. These neurofibromas can form wherever there are nerve cells in the body.
Treatment: Potential treatments could include replacing the NF1 gene to restore the function of neurofibromin.
Turner syndrome
Turner syndrome is a genetic disorder affecting some women and girls. It might cause problems with hearing, vision, and infertility, but usually not with intellectual ability. Treatment with hormones can help deal with some of the problems.
Treatment: There is no cure for Turner syndrome but its symptoms can be minimized if hormonal injections are given in early childhood which often increases adult height by a few inches. Estrogen replacement therapy helps secondary sexual development that normally begins at puberty.
Thalassemia
Thalassemia is an inherited genetic disorder that affects the blood and causes lifelong anemia. People with thalassemia do not produce enough healthy hemoglobin, which makes their blood cells small and pale. Hemoglobin is a protein found in red blood cells that carries oxygen from the lungs to the rest of the body.
Treatment: A severe form of thalassemia often requires blood transfusion on a regular basis. Whereas, chelation therapy that helps in removing excess iron from blood and stem cell transplant or bone marrow transplant can also be helpful.
Williams syndrome
Williams syndrome is a genetic condition present from birth that occurs because a small piece of chromosome 7 does not form properly after conception. Williams syndrome can’t be cured, but treatment can help manage the symptoms, especially if started early.
Treatment: Although there is no cure for this it is important to keep a check and treat the different medical problems that can be caused by this disorder. Treatments should differ from person to person as per their needs. Every individual needs different treatment and intervention. People suffering from this disorder should have a formal evaluation by a cardiologist.
Looking Ahead
Experts are learning extra and more about genetics. An international research venture called The Human Genome Project produced a map of all human genes. It demonstrates where the genes are positioned on the chromosomes. Specialists can use this map to find, treat or cure some types of genetic disorders. There is optimism that treatments for many genetic ailments will be developed in the future.
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