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Gallery Posts

Day: April 20, 2025

Tay-Sachs disease (TSD) is a rare, inherited neurodegenerative disorder caused by mutations in the HEXA gene on chromosome 15, which encodes the alpha subunit of the enzyme hexosaminidase A (HexA). This enzyme is essential for breaking down GM2 ganglioside, a fatty substance in nerve cells. Deficiency of HexA leads to the accumulation of GM2 ganglioside in the brain and spinal cord, causing progressive neuronal damage and death.
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Tay-Sachs Disease

Tay-Sachs disease (TSD) is a rare, inherited neurodegenerative disorder caused by mutations in the HEXA gene on chromosome 15, which encodes the alpha subunit of the enzyme hexosaminidase A (HexA). This

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Marfan syndrome is a genetic disorder affecting connective tissue, caused primarily by mutations in the FBN1 gene, which encodes fibrillin-1, a protein essential for the formation of microfibrils that provide strength and elasticity to connective tissues126. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene is sufficient to cause the disorder123. About 25% of cases arise from new (de novo) mutations without a family history123.
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Marfan Syndrome

Marfan syndrome is a genetic disorder affecting connective tissue, caused primarily by mutations in the FBN1 gene, which encodes fibrillin-1, a protein essential for the formation of microfibrils that provide strength

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Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder characterized by sudden, painless vision loss due to degeneration of retinal ganglion cells and the optic nerve. It is the most common inherited mitochondrial disease, affecting approximately 1 in 30,000 to 1 in 50,000 individuals globally6. LHON primarily affects young males, with symptoms typically emerging between ages 15 and 35, though onset can occur from childhood to late adulthood16.
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Leber Hereditary Optic Neuropathy (LHON)

Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder characterized by sudden, painless vision loss due to degeneration of retinal ganglion cells and the optic nerve. It is the most

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Achondroplasia is a genetic disorder and the most common form of short-limbed dwarfism. It results from a mutation in the FGFR3 gene (fibroblast growth factor receptor 3), which causes abnormal functioning of this receptor. This abnormality slows the conversion of cartilage to bone, particularly affecting the growth plates of long bones, leading to shortened arms and legs, especially the upper arms and thighs, and a shorter overall stature. Adult height typically ranges between 42 and 56 inches (about 3.5 to 4.6 feet).
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Achondroplasia

Achondroplasia is a genetic disorder and the most common form of short-limbed dwarfism. It results from a mutation in the FGFR3 gene (fibroblast growth factor receptor 3), which causes abnormal functioning

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Hereditary disorders, also known as genetic disorders, are health conditions caused by abnormalities in an individual's genetic material—either in their DNA sequence or chromosome structure—that are passed down from parents to offspring. These disorders can manifest at birth or develop later in life and vary widely in severity and symptoms.
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Hereditary Disorders

Hereditary disorders, also known as genetic disorders, are health conditions caused by abnormalities in an individual's genetic material—either in their DNA sequence or chromosome structure—that are passed down from parents to

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Extra-adrenal paraganglia (EAP) are neuroendocrine tissues derived from neural crest cells, forming part of the autonomic nervous system. They are distributed symmetrically from the skull base to the pelvic floor and include:
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Extra-Adrenal Paraganglia (EAP)

Extra-adrenal paraganglia (EAP) are neuroendocrine tissues derived from neural crest cells, forming part of the autonomic nervous system. They are distributed symmetrically from the skull base to the pelvic floor and

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The adrenal medulla is the inner part of the adrenal gland, located at the center of each gland atop the kidneys. It is composed primarily of chromaffin cells, which are modified postganglionic sympathetic neurons derived from neural crest cells. These cells secrete catecholamine hormones—mainly epinephrine (adrenaline) and norepinephrine (noradrenaline)—directly into the bloodstream in response to stimulation by the sympathetic nervous system124.
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Adrenal Medulla (AM)

The adrenal medulla is the inner part of the adrenal gland, located at the center of each gland atop the kidneys. It is composed primarily of chromaffin cells, which are modified

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