Genetic Disorders
Genetic disorders occur when a mutation (a harmful change in the gene) affects the genes or when an individual has the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contains instructions for cell functioning and the characteristics that make an individual unique.
WHAT ARE THE CAUSES SUCH GENETIC DISORDERS?
Understanding how genes and DNA function will help an individual better understand the causes of genetic disorders. Most of the DNA in the genes instructs the body to make proteins. These proteins initiate intricate cell interactions that support well-being. A mutation alters the instructions that the genes use to make proteins. There might be protein deficiencies or they may not function properly or are defective. Environmental elements, commonly known as mutagens, that may cause genetic mutations include:
- Chemical exposure
- Radiation exposure
- Smoking
- UV exposure from the sun
GENETIC DISORDERS CAN BE OF DIFFERENT TYPES:
Chromosomal:
This type of disorder affects the chromosomes, which are the internal organelles in each cell that house your genes and DNA. People with chromosomal disorders have duplicated or missing chromosomal material.
Complex (multifactorial):
These conditions are resulting from a mix of gene mutations and other causes. These causes include Chemical exposure, nutrition, usage of certain drugs, cigarettes, alcohol, etc.
Single-gene (monogenic):
This group of conditions occurs from a single-gene mutation.
Common genetic disorders include:
Chromosomal genetic disorders:
- Down syndrome (Trisomy 21)
- FragileX syndrome
- Klinefelter syndrome
- Triple-X syndrome
- Turner syndrome
- Trisomy 18
- Trisomy 13
Rare genetic disorders:
- AA amyloidosis
- Adrenoleukodystrophy (ALD)
- Ehlers-Danlos syndrome
- Mitochondrial diseases
- Usher syndrome
Monogenic disorders:
- Cystic fibrosis
- Duchenne muscular dystrophy
- Familial hypercholesterolemia, a type of high cholesterol disease
- Hemochromatosis (iron overload)
- Neurofibromatosis type 1 (NF1)
- Sickle cell disease
- Tay-Sachs disease
SYMPTOMS OF GENETIC DISORDERS
Symptoms vary depending on the type of disorder and organs affected:
- Behavioral changes or disturbances.
- Breathing problems.
- Cognitive deficits, when the brain can’t process information as it should.
- Developmental delays that include challenges with speech or social skills.
- Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients.
- Limb or facial anomalies, which include missing fingers or a cleft lip and palate.
- Movement disorders due to muscle stiffness or weakness.
- Neurological issues such as seizures or stroke.
- Poor growth or short stature.
- Vision or hearing loss.
BUT WHY CHOOSE
BONE MARROW CONCETRATE GRAFT?
We have effectively treated over 80 patients of Genetic Disorders with BMCG!
MSCs have the potential to develop into different types of cells in the body, and they have been suggested as a potential treatment for genetic disorders because they have the ability to regenerate damaged cells and restore the normal function of the body. Along with stem cells, innovative smart technology and other therapies are given to the patient at StemRx Pvt Ltd. In the cases like genetic conditions where we have not implemented treatment such as gene therapy on a regular basis but StemRx has generated a protocol to treat such types of patients which had shown promisable results. This helps the patient to extend their lifespan with all the aids for their daily living. The use of regenerative medicine helped the affected areas to improve their power and functioning. After regular intervals, these regenerative medicines along with stem cells are given to the patients. Thus, Cell-based therapy can provide healing effects in different genetic disorders.
