Rare genetic diseases list // Drug Repurposing

Rare genetic diseases list

Autosomal Dominant InheritanceDid You Know?

Genes have a 'memory.' The lives of your grandparents - the air they breathed, the food they ate, even the things they saw - can directly affect you, decades later, despite your never experiencing these things yourself.
~ BBC, Ghost in Your Genes
"They are in you and me; they created us, body and mind; and their preservation is the ultimate rationale for our existence. They have come a long way, those replicators. Now they go by the name of genes, and we are their survival machines."
- Richard Dawkins

DNA or deoxyribonucleic acid is the macromolecule that contains all the information required for the development and functioning of an organism. This is achieved through sets of DNA sequences called genes, which are responsible for a particular phenotype, trait or function. These units of heredity are arranged together, along with their regulatory sequences, to form chromosomes.

In addition to the DNA present in nucleus, the mitochondria of each cell also possess their own genetic component called mitochondrial DNA. These mitochondrial genes are responsible for certain vital components of the cellular processes. Genetic diseases are the result of mutations, deletions, repetitions and other anomalies in one or more genes as well as chromosomal aberrations. Given below is a list of several genetic diseases and disorders, categorized on the basis of their inheritance and genetic complexity.

Normal Human KaryotypeINDEX

Single Gene Disorders

As the name suggests, this set of genetic disorders refers to those arising due to mutations in a single gene. Based on the location and the inheritance pattern of the gene, these diseases are further classified into the following types.

Autosomal Dominant

Genetic diseases that are manifested in the presence of a single copy of a mutated/abnormal autosomal gene are called autosomal dominant diseases. In other words, abnormal gene inherited from one parent can cause a disease, even if a normal copy of the gene is inherited from the other parent.
  • Alagille syndrome
  • Alexander disease
  • Apert syndrome
  • Optic atrophy type 1
  • Gardner syndrome
  • Hereditary spherocytosis
  • Legius syndrome (LS)
  • Marfan syndrome
  • Marshall syndrome
  • Huntington's disease
  • Stone man syndrome
  • Neonatal Onset multisystem inflammatory disease
  • Liddle's syndrome
  • Stickler syndrome
  • Noonan syndrome
  • Pallister-Hall syndrome
  • Peutz-Jeghers syndrome
  • Rubinstein-Taybi syndrome
  • Russell-Silver syndrome
  • Tuberous sclerosis
  • von Hippel-Lindau syndrome
  • Worth syndrome
  • Neurofibromatosis type I
  • Best's disease (Best's vitelliform macular dystrophy)

Autosomal Recessive

This set of diseases are manifested only when two copies of the mutated gene are inherited. If one gene is defective whereas the other inherited gene is normal, the individual is simply a carrier of the gene, and does not suffer from the disease.
  • Mucolipidoses
  • Alpers' disease
  • Oculocutaneous albinism
  • Canavan syndrome
  • Cystinosis
  • Dubin-Johnson syndrome
  • Galactosemia
  • Hemoglobin C disease
  • Refsum disease
  • Sickle cell anemia
  • Alström syndrome
  • Xeroderma pigmentosum
  • Shwachman-Diamond syndrome
  • Hurler syndrome
  • Bloom syndrome
  • Congenital adrenal hyperplasia
Multifactorial Diseases Mitochondrial Inheritance


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No. But days after this happened we learned

by --

Of a relative who had the same things starting at age 40. The person is still alive at age 88. So that's good. The docs are doing a blood test re: rare genetic diseases. This could shed light on the situation.
But...he is overweight. However, he exercises 4-5 times a week. Hardcore exercise -- things like spin class and 50 mile bike rides and regular 1.5 gym outings. He loves exercise.

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