Genetics

Types of Genetic Disorders

Genetic Disorders may develop in patients by birth or sometimes they may develop over time. There are mainly 4 types of genetic disorders.

Single-gene inheritance diseases

Single-gene inheritance disorder is mainly caused due to a single gene mutation in a person’s genetics. This type of genetic disorder can be passed down to the next generations in different ways like

• Cystic fibrosis
• Sickle-cell anemia
• Marfan syndrome
• Duchenne muscular dystrophy
• Huntington disease
• Polycystic kidney disease types 1 and 2
• Tay-Sachs disease
• Phenylketonuria
• Maple syrup urine disease
• Neurofibromatosis type 1

Multifactorial genetic inheritance disorders

Multifactorial genetic inheritance disorders are caused by or influenced by more than one factor including genes and other factors too. In this type of disorder, several things play a part in causing health problems or disorders. These factors could be nutrition, lifestyle, alcohol influence and genes, and more. Common multifactorial genetic disorders are

• Birth defects including neural tube defects and cleft palate
• Cancers of the breast, ovaries, prostate, and skin
• High blood pressure and high cholesterol
• Diabetes
• Alzheimer disease
• Schizophrenia
• Bipolar disorder
• Arthritis
• Osteoporosis
• Skin conditions including psoriasis, moles, and eczema
• Asthma and allergies

Chromosome abnormalities

Chromosomes are a collection of genes. Genes determine our bodily functions both physical and medical. Chromosome abnormalities or disorders are mainly of two types, numerical and structural. Whenever a person misses a chromosome or consists of more than two chromosomes in a pair then it is known as a numerical abnormality. In case of structures of the chromosomes get changed from the usual shape then it is known as a structural abnormality. Some of the common chromosomal abnormalities are

• Down syndrome
• Down syndrome
• Trisomy 18
• Trisomy 13
• Klinefelter syndrome
• XYY syndrome
• Turner syndrome and triple X syndrome

Mitochondrial genetic inheritance disorders

Most of the cells in the human body consist of several mitochondria. Mitochondria works as a power generator for cells, they produce heat and energy. Also, they help in storing calcium in cells. Each cell may contain hundreds to thousands of mitochondria.

Mitochondria disorders lead to failure in producing energy for the cells in your body. Some of the common mitochondrial disorders are

• flaccid muscles
• muscle weakness
• problems with coordination
• loss of muscle, or muscle quiver
• nervous system dysfunction
• fatigue, or inability to exercise
• weak eye muscles or rapid involuntary movement
• developmental disability
• heart block
• seizures
• severe unintentional weight loss, or slow growth

Geneticists at Kamineni Hospitals are experienced and skilled in treating a wide range of genetic disorders from down syndrome to developmental disabilities.

Treatments and Procedures

Genetic Testing

Geneticists at Kamineni Hospitals offer reliable and accurate genetic testing procedures. Based on the results they provide the most appropriate treatment for the patient. Genetic professionals or geneticists work closely with patients to detect and find out the chances of passing that condition to the next generations.

These are voluntary tests so a person should consult a genetic consult before going for the tests. Geneticists will look for changes in genes, chromosomes, and proteins to determine genetic disorders.

Based on the symptoms and suspected genetic disorder, geneticists conduct the appropriate test for patients. These genetic tests will provide the medical specialist with a clear understanding of the disorders the patient is suffering from. Some of the common genetic testing procedures are

Molecular Tests

Geneticists at Kamineni Hospitals are skilled and experienced in conducting molecular tests. These tests help geneticists in analyzing biological markers in the genome and proteome. During these tests, geneticists look for changes in one or more genes.

Molecular tests are further divided into 4 subdivisions that help in analyzing particular variations in one or more genes.

• Targeted Single Variant
• Single Gene
• Gene Panel
• Whole-exome/genome sequencing

Chromosomal Tests

Chromosomal tests help geneticists to identify changes in chromosomes. Chromosome changes include duplicated or deleted chromosomes. It mainly helps in looking for large-scale changes. These changes in chromosomes caused specific medical conditions in patients. It can be done when one of these medical symptoms is suspected.

Gene Expression Tests

Gene expression tests help geneticists in identifying high-level or low-level activity in cells. Generally, cells produce mRNA to generate protein. This test helps in identifying high mRNA in cells to see which cells are active or not active. This helps in identifying many cancer cells and genetic disorders.

Biochemical Tests

In this procedure, geneticists don’t analyze DNA directly. It involves studying proteins or enzymes generated by the genes. Any type of abnormalities in this substance could lead to a specific genetic disorder.

Geneticists at Kamineni Hospitals are considered as one of trusted and reliable medical specialists in treating a wide range of genetic disorders. They are skilled in conducting various diagnostic tests and providing the most effective treatment possible.

Treatments

Most genetic disorder treatment doesn’t influence or change the genetic mutation. However, some genetic disorders can be cured with the help of the right treatment like gene therapy.

Gene therapy involves adding or removing genes in your body to promote health and treat genetic disorders. This therapy helps your body to fight diseases effectively.

Gene therapy techniques

Replacing Mutated Genes – Replacing defective genes with healthy genes

Fixing Mutated Genes- turning off the defective genes and stimulating the healthy genes

Enhancing the Immune System- eliminating diseases genes with the help of the Immune system

Along with this, geneticists at Kamineni Hospitals provide appropriate medications and necessary treatments. By employing the latest technology developments in genetic medicine and equipment our geneticists ensure personalized care for patients.