Meet Sharon Terry, a determined mother who started researching her own two children's rare disorder to better understand the science behind it. In becoming a citizen scientist researcher, she continues to look for more helpful information about the disorder as she continues to bring awareness around the world.

 1. RPI deficiency. According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficiency, is the rarest disease in the world with MRI and DNA analysis providing only one case in history. What diseases are purely genetic? 6 Most Common Hereditary Diseases Sickle Cell Disease.

Genes are made up of deoxyribonucleic acid (DNA) and come in pairs, one from each parent. Genes store the code—the information and instructions—the body needs to make proteins. Nearly every function of the body is made possible by proteins. When a piece of DNA is missing or changed, it can alter protein production. The protein may no longer be able to carry out its normal function.

With only that of a single protein missing, in short supply, or made wrong, the effect on the body can be harmful. Some genetic diseases are caused by a malfunctioning or missing gene or genes. A genetic disease can be passed down from one or both parents or can be a result of random errors in the body’s genes.

Types of genetic disorders-

Autosomal dominant: Only one mutated copy of the gene is involved in this disease. Only one of the parents is affected by the disease. The probability of the child inheriting the mutated gene is 50% in this disease. There are many instances where the child does not have the disease even after inheriting the gene. The commonly known examples of this disease are- Huntington’s disease, Marfan syndrome, Tuberous sclerosis popliteal pterygium syndrome, Bart Socas-papas syndrome etc.

Autosomal recessive: In this case, two copies of the mutated gene are necessary for the child to inherit the disease. None of the parents are affected by the disease, but each carries a single copy of the defective gene. The chance of the child having the disease is 25%. Some examples of this type of genetic disease are Albinism, Roberts syndrome, Sickle cell disease, Cystic fibrosis and Niemann-Pick disease.

X-linked dominant: These diseases occur due to mutations in the genes of the X chromosome. This is an extremely rare variety of genetic disease and is more likely to be observed in males. A few examples are- Rett syndrome and Aicardi syndrome.

X-linked recessive: These are also caused by the mutations in the genes on the X chromosomes. In this disease also, the males are more likely to get affected than the females. A woman carrying an X-linked recessive gene has a 50% chance of having sons who are affected and a 50% chance of having daughters who are the carriers of a single copy of the mutated gene. The common diseases, in this case, are- male pattern baldness, color blindness, Hemophilia A and Lesch-Nyhan syndrome. Y-linked: These are caused by mutations on the Y chromosome and are also called holandric disorders.

Mitochondrial: Mutations in the genes of the mitochondrial DNA cause these disorders. Multi-gene disorders: These are also called polygenic diseases and are caused by the effects of multiple genes, combined with environmental factors and lifestyle trends. These include some of the common familial diseases like – asthma, cardiovascular diseases, hypertension, bowel diseases etc.here.

Short answer is No. -Most disorders are only manageable with no permanent cure.
While there are many advances in technology today and more to come as they continue to have ongoing research with studies being conducted on various rare disorders, many treatment options have not yet been approved by the FDA or made available to those born with rare genetic disorders as there is little information known about many of the disorders or the adverse effects treatment options may have on one's life & health.