Rare Diseases and Orphan Drugs

Rare diseases are uncommon conditions that affect a small chance of the population, making them very uncommon in terms of circumstance.

For numerous rare disorders, the actual reason is still unclear. These conditions are known as uncommon genetic illnesses.. However, in utmost cases, the issue can be linked to alterations (mutations) in one single gene. Genetics is only one reason, and plenty other factors, such as

• Diet

• Level of nutrition

• Alcohol consumption

• Smoking

• Environmental factors

• or Exposure to toxins may also be responsible.

These reasons may either directly affect and be a cause for the disease or act in concert with hereditary factors and worsen the being condition.

Health experts are especially trained to diagnose and treat indeed the most complex infections, as well as those that come back after treatment. We understand the unique requirements of babies, children and adolescents and deliver effective, customized care. Some of the utmost common conditions we treat includes

• Bloodstream infections

• Bone and joint infections (osteomyelitis)

• Fever of Unknown Origin (FUO) and fevers that are persistent or recurrent (keep coming back)

• Human immunodeficiency virus (HIV) and Acquired immunodeficiency syndrome (AIDS)

• Lyme disease

• Methicillin Resistant Staphylococcus Aureus (MRSA) and various skin infections

• Mononucleosis (mono), Pertussis (whooping cough), Pneumonia and other respiratory infections

• Tuberculosis (TB)

• Urinary tract infections (UTI)

• Valley fever

Genetic disorders occur when a mutation affects the genes. Carrying the mutation doesn’t always mean you’ll end up with a disease. There are many types, including single-gene, multifactorial and chromosomal disorders.

Genetic disorders may also cause rare diseases. This group of conditions affects smaller than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.

Rare genetic disorders include:

• AA amyloidosis.

• Adrenoleukodystrophy (ALD).

• Ehlers-Danlos syndrome.

• Mitochondrial diseases.

• Usher syndrome.

Orphan drugs have been used to treat rare diseases since last three decades. Modern society still has a lack of options for the effective treatment of patients with rare diseases. Scientific advances have given researchers a new tool to explore these orphan diseases, which are often more complex than common diseases. There are approximately 7000 different types of rare diseases and disorders with more being discovered today. It has been reported that there are about 250 new rare cases reported every time, still the respectable treatment is available only for 200- 300 orphan cases. It's known that the 80 of these rare conditions are of inheritable origin and the rest have environmental, bacterial, viral or unknown origin. Overall orphan conditions are frequently habitual, progressive, disabling; indeed life hanging and utmost of these have effective or restorative treatment, having low frequence and high complexity.

Rare Aging and Endocrine Disease include congenital disorders like Congenital adrenal hyperplasia, cancer syndromes (e.g., the multiple endocrine neoplasia syndromes), and endocrine manifestations that stem from inherited metabolic diseases (which are likely to be associated with diabetes mellitus, hypogonadism, and adrenal, pituitary, and thyroid dysfunction).

Gene therapy is a logical way to treat rare inheritable conditions; cure a single gene disfigurement by introducing a' correct' gene. The first gene- remedy trials were conducted using cases with rare monogenetic diseases, but these are now outnumbered by the clinical testing of gene therapeutics for more common conditions, such as cancer, AIDS and cardiovascular disease. due to a failure to achieve long- term gene expression with early vector systems, a critical demand for correcting numerous inborn inheritable blights. Now, with the arrival of adeno- associated viral( AAV) and lentiviral vectors, which demonstrate persistent gene expression in animal studies, this technological hedge may have been overcome.

Rare neurological conditions may be inherited, post contagious, iatrogenic, or of unknown etiology. They can affect the brain, spinal cord, or supplemental jitters. Symptoms range from mild temblors to significant motor and cognitive impairment. Remedy is frequently probative.

Some of these brain diseases include

• Amyotrophic lateral sclerosis (ALS)

• Angelman syndrome.

• Batten.

• Cerebral palsy.

• Cerebral cavernous malformations.

• Cervical dystonia.

• Chronic inflammatory demyelinating. polyneuropathy.

• Dravet syndrome.

Rare disease and rare cancers are frequently viewed as two separate worlds. Still, cases and families affected by these complex conditions face numerous of the same challenges. In fact, rare conditions and rare cancers aren't mutually exclusive communities, they lap.

Some of the treatments for rare cancers include

• Surgery

• Chemotherapy

• Radiotherapy

• Hormone therapy

• Targeted cancer drugs

• Immunotherapy

• Stem cell or bone marrow transplant

• Having treatment as part of a clinical trial

Viral infections are any illness that will get from a virus (a small germ that uses your cells to reproduce). Common viral illness i.e., Colds, the flu, COVID-19, Norovirus (“stomach flu”), HPV (warts) and Herpes Simplex Virus (cold sores). Numerous viruses go away on their own, but some cause life threatening or chronic illnesses. Other viral diseases includes:

• Chickenpox

• Herpes

• Influenza

• AIDS

• Mumps

• Measles

• Viral Hepatitis

Sexually transmitted conditions (STDs) or Sexually transmitted infections (STIs) are infections that passed from one person to another through sexual contact. They are generally spread during vaginal, oral, or anal sex. But occasionally they can spread through other sexual contact involving the penis, vagina, mouth, or anus. This is because few STDs like herpes and HPV are spread by skin to skin contact.

There are a number of treatment options depending on the condition including

• Antibiotics
• other Oral or Topical medications
• Surgery
• Laser

Numerous STDs are treatable, but not all of them are curable. Some can be life hanging , while others have less serious goods.

Mental disorders similar as depression and bipolar are frequently discussed. We don’t generally talk about some of the rarest mental conditions since these cases are extremely rare. Likewise, the symptoms of these rare mental disorders are not mostly experienced by mental patients. Here are examples of some of the rarest mental disorders that even experts find hard to explain.

• Multiple Personality Disorder or Dissociative Identity Disorder (DID)
• Obsessive-Compulsive Disorder
• Histrionic Personality Disorder
• Autocannibalism
• Alice in Wonderland Syndrome
• Alien Hand Syndrome
• Capgras Syndrome
• Apotemnophilia
• Cotard’s Delusion
• Paris Syndrome
• Stendhal Syndrome

Utmost rare mental disorders can be treated by a combination of antipsychotic medications and therapy. These are patterns of behaviors collected through a person’s lifespan that can be corrected.

Rare diseases are those that present a lower prevalence than 5 cases per 10.000 population. The main ideal of this review was to study the effect on oral health in rare diseases.  Utmost people have to deal with tooth decay and gum disease at one point in their lives. The most uncommon oral health illnesses are

• Cold Sores or Oral Herpes
• Oral Cancer
• Temporomandibular Joint Pain
• Dry Mouth
• Burning Mouth Syndrome
• Thrush

Skin conditions are common among people of all periods. Numerous people may have endured eczema or hives, for case. Still, some skin conditions affect far smaller people. numerous of these are inherited conditions.

Here is the list of rare skin diseases along with their symptoms and possible treatments.

• Blau syndrome
• Actinic prurigo
• Peeling skin syndrome
• Argyria
• Erythropoietic protoporphyria
• Lamellar ichthyosis
• Harlequin ichthyosis
• Stevens-Johnson syndrome and toxic epidermal necrolysis
• Epidermolysis bullosa
• Chromhidrosis
• Necrobiosis lipoidica

The body’s immune system can be inversely as poisonous to foreign organisms as it can to its own tissues. A hyperactive immune system can inflict annihilation on the body, with cases frequently tormented by further than one autoimmune disease at formerly.

Here are few Rare autoimmune diseases:

• Eosinophilic granulomatosis with polyangiitis (EGPA)
• Guillain-Barre syndrome
• Kawasaki disease
• Mixed connective tissue disease (MCTD)
• Myasthenia gravis
• Paroxysmal nocturnal hemoglobinuria (PNH)
• POEMS syndrome
• Retroperitoneal fibrosis
• Scleroderma
• Thyroid eye disease