W for Wilson Disease
Wilson disease is a rare, hereditary genetic ailment that impairs the body’s capacity to metabolize copper, resulting in its toxic buildup in essential organs such as the liver, brain, and eyes. Wilson disease results from mutations in the ATP7B gene, which facilitates the transport of excess copper from the liver to the bile for excretion […]
V for Von Hippel-Lindau Disease
Von Hippel-Lindau (VHL) disease is a rare, autosomal dominant genetic disorder caused by mutations in the VHL gene, a critical tumor suppressor gene. The VHL gene regulates the hypoxia-inducible factor (HIF) complex, which controls the production of growth factors like vascular endothelial growth factor (VEGF). Mutations in VHL disrupt this regulation, leading to increased growth […]
U for Uveal Melanoma
Uveal melanoma, also known as ocular melanoma, is rare cancer that affects the uvea, the central layer of the eye. The uvea consists of the iris (the colored part of the eye), the ciliary body (which produces fluid for the eye), and the choroid (a layer of blood vessels under the retina). This disorder most […]
T For Tay Sach’s Disease
Tay-Sachs disease (TSD) is an inherited rare autosomal recessive lysosomal disease caused by mutations in the Hexosaminidase A(Hex-A) gene, causing deficiency of Hex-A enzyme. This shortage leads an accumulation of GM2 gangliosides in the nervous system. TSD can be categorized into three types: Infantile, Juvenile, or Late Onset. Infantile and Juvenile forms cannot be treated […]
S for Sickle Cell Disease: Part II
Sickle Cell Disease (SCD) is a genetic disorder that causes the production of abnormally shaped red blood cells, which are rigid, sickle-shaped, and can block blood flow. This leads to severe pain (sickle cell crises), organ damage (including liver, heart, and spleen), and a reduced life expectancy. Treatments like blood transfusions, pain management, and bone […]
S for Sickle Cell Disease: Part I
Sickle Cell Disease (SCD) is a group of rare genetic blood disorders characterized by the production of abnormal hemoglobin, known as hemoglobin S (HbS), which causes red blood cells to adopt a rigid, crescent or sickle shape. SCD manifests in different forms, and encompasses several related but distinct disorders, all of which are caused by […]
R for Retinoblastoma – Part II
Retinoblastoma is a rare and aggressive form of eye cancer that primarily affects young children. Treatment approaches depend on whether the cancer is confined to the eye (intraocular) or has spread beyond it (extraocular), as well as the stage and recurrence of the disease. Alongside traditional therapies, new treatment options are being explored to address […]
R For Retinoblastoma- Part I
Retinoblastoma is a rare eye cancer that primarily affects young children, typically diagnosed before the age of five. It originates in the retina, the light-sensitive tissue at the back of the eye, where nerve cells undergo changes leading to tumor formation. While most cases occur in children, it can also appear in adults. Researchers estimate […]
Q for Q Fever
Q fever is a rare infectious disease transmitted through the inhalation or ingestion of the bacteria Coxiella burnetii. Cattle, sheep, and goats frequently serve as bacterial hosts for this microorganism. C. burnetii is mostly transmitted through inhalation of contaminated air or ingestion of contaminated food and beverages. Agricultural laborers, particularly those engaged with livestock, individuals […]
P for Progeria: Part II
Progeria or Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by accelerated aging. Caused by a mutation in the LMNA gene, it leads to the accumulation of the toxic protein Progerin, resulting in severe cardiovascular issues and a life expectancy averaging 14.5 years. Progerin disrupts nuclear structure and function, causing various cellular abnormalities. […]
P for Progeria- Part I
Progeria or Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare and fatal genetic disorder characterized by premature aging that begins in childhood. The condition is typically not inherited but arises from a sporadic autosomal dominant mutation, with a low chance of occurrence (1 in 4 to 8 million), increasing to 2-3% if a family has already […]
O for Osteosarcoma- Part II
The future of osteosarcoma therapy is centered on innovative clinical trial designs that prioritize progression-free survival and the identification of potentially effective agents, such as regorafenib and cabozantinib. These trials aim to explore targeted combinations in patients with tumors that have been genomically and immunologically characterized. Recent advances in genetic sequencing have uncovered significant complexity […]
O for Osteosarcoma – Part I
Osteosarcoma is a rare malignancy. Annually, approximately 1,000 new osteosarcoma cases are identified in the United States. Approximately fifty percent of these cases involve children and adolescents. Most osteosarcomas manifest in children, adolescents, and young adults aged 10 to 30. Adolescents are the most frequently impacted demographic, although individuals of any age may acquire osteosarcoma. […]
N for Narcolepsy- Part II
Narcolepsy is a central condition that causes people to be too sleepy during the day. Narcolepsy management is symptomatic; currently, there are no disease-modifying treatments available. Many individuals with narcolepsy find that tiredness and cataplexy significantly affect daily living, therefore influencing relationships, school, employment, and social life. Most patients need pharmaceutical treatment, and many find […]
N for Narcolepsy- Part I
Narcolepsy is a rare and chronic neurological disorder characterized by instability in sleep-wake regulation. marked by chronic excessive daytime drowsiness (EDS) and disrupted nighttime sleep. Individuals with narcolepsy experience sudden sleep attacks that may last from a few seconds to several minutes and can occur multiple times a day. The condition is thought to be […]
M For Multiple Myeloma- Part II
There is currently no cure for multiple myeloma; however, there are numerous treatment options available to effectively manage the disease, with new ones arising from time to time. The primary objective of treatment for multiple myeloma is to Induction therapy is the standard of care for newly diagnosed multiple myeloma, and it is followed by […]
M For Multiple Myeloma- Part I
Multiple Myeloma is a rare cancer that arises from plasma cells, a type of white blood cell produced in the bone marrow. These cells become malignant, proliferating uncontrollably and leading to tumor formation primarily in the bone marrow. When only a single tumor is present, the condition is called solitary plasmacytoma. When multiple tumors are […]
L for Legg-Calve-Perthes Disease- Part II
Legg-Calvé-Perthes disease (LCPD) is a pediatric hip condition characterized by interruption of the blood supply to the femoral head, leading to osteonecrosis. This condition primarily affects children between 4 and 8 years but can occur between 2 and 15 years. Various treatments, including both surgical and nonsurgical options, have been explored to manage LCPD. Despite […]
L for Legg- Calve-Perthes Disease- Part I
Legg-Calvé-Perthes Disease (LCPD) is a type of osteochondrosis affecting children, primarily between the ages of 2 and 12, with a higher incidence in those aged 5 to 6 and a greater prevalence in boys. This condition involves the degeneration and subsequent regeneration of the epiphysis, or growth end, of a bone. Specifically, LCPD impacts the […]
K for Kennedy Disease- Part II
Kennedy’s disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), first identified over two decades ago due to a mutation that expands a CAG trinucleotide repeat in the androgen receptor gene, results in an androgen receptor protein with an extended polyglutamine sequence. These disorders are characterized by protein aggregation, mitochondrial dysfunction, and transcriptional abnormalities. […]
K For Kennedy Disease- Part I
Kennedy Disease, also known as Spinal Bulbar Muscular Atrophy (SBMA), is a rare X-linked recessive genetic progressive neuromuscular disease that causes muscle weakness and wasting (atrophy) throughout the body. Symptoms typically begin to appear between the ages of 30 and 50, with life expectancy being nearly normal. Males with the inherited gene usually develop symptoms, […]
J for Juvenile CLN3 Disease- Part II
Juvenile CLN3 disease, also known as Batten disease, currently has no cure, so specialized symptom management and therapy are crucial for maintaining the quality of life for affected children, young people, and their families. Comprehensive support for parents, siblings, and extended family members is essential. Therapeutic approaches to Batten disease ranges from – Enzyme Replacement […]
J For Juvenile CLN3 Disease
Juvenile CLN3 disease, commonly known as Juvenile Batten Disease, is an extremely rare and fatal inherited disorder primarily affecting the nervous system in children. The disease is caused by mutations in the CLN3 gene, which encodes the CLN3 protein. More than sixty-seven different mutations in the CLN3 gene have been identified as responsible for Juvenile […]
I for I-Cell Disease- Part II
I-cell disease or Mucolipidosis Type II (MLII) is a devastating rare genetic disorder characterized by severe multisystemic involvement and a limited lifespan. It is a severe lysosomal storage disorder caused by mutations in the GNPTAB gene located on chromosome 12q23.2. This gene encodes the alpha and beta subunits of N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase), which plays a crucial […]
I for I-Cell Disease- Part I
I-cell disease, also known as Mucolipidosis type II, is a severe rare lysosomal storage disorder caused by mutations in the GNPTAB gene located on chromosome 12q23.2. This gene encodes the alpha and beta subunits of N-acetylglucosamine-1-phosphotransferase, which plays a critical role in processing and packaging lysosomal enzymes by tagging them with mannose-6-phosphate in the Golgi […]
H for Huntington’s Disease- Part II
Huntington’s disease (HD) is a debilitating neurodegenerative condition caused by an abnormal expansion of CAG triplets in the huntingtin (HTT) gene, leading to the progressive deterioration of GABAergic neurons in the brain’s central regions. As of now, there is no cure for HD, and treatment focuses on symptom management and improving quality of life. The […]
H for Huntington’s Disease – Part I
Huntington’s disease (HD) is a rare, inherited neurodegenerative disorder affecting the central nervous system. Characterized by involuntary movements, behavioral disturbances, and dementia, HD typically manifests between ages 30 and 50, though juvenile cases also occur. Symptoms include chorea, dystonia, cognitive decline, psychiatric issues, and difficulties with speech and swallowing. The disease leads to complete dependency […]
G for Gaucher Disease – Part II
Gaucher disease results from mutations in the GBA gene, disrupting the breakdown of glucocerebroside and causing its accumulation, leading to cellular damage. Efforts to repair this faulty “switch” have long been pursued in medical research. This disease though currently incurable, can be managed effectively with available therapies. Type 1 Gaucher patients can lead full lives, […]
G for Gaucher Disease – Part I
Gaucher disease is a rare, genetic metabolic disorder where glucocerebrosidase deficiency lead to accumulation of fat-laden “Gaucher cells” in areas like the spleen, liver and bone marrow. Gaucher cells are normal macrophages which become full of unprocessed glucocerebroside and accumulate in the organs causing dysfunction and inflammation. This is the second most severe type of […]
F for Fanconi Anemia – Part II
Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, birth defects, and a heightened risk of cancer. Symptoms typically emerge around age 7, though diagnosis may occur later when cytopenia is detected. The disorder’s average lifespan is between 20 and 30 years, with most patients developing bone marrow failure (BMF) by […]
