Genes are elementary unit of heredity. They transfer characters from parent to child. Sometimes there is a mutation, or change in a gene/s. This mutation changes the gene’s instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder and it is a rare condition. Gene mutation may be inherited from single parent or from both. Mutation can also happen during your life time. There are three types of genetic disorders:
- Single-gene disorders
- Chromosome disorders
- Complex disorders
Around 400 million people on earth are living with rare disorders – this is a disorder or condition with fewer than 200,000 people diagnosed.
- 1 /10 people get effected by rare diseases
- 1/2 people are diagnosed with rare disease during childhood
- 3/10 children with rare disease won’t see their 5th birthday
- 8 in 10 rare diseases are caused by faulty gene
- 8 years are required for rare disease patient to receive an accurate diagnosis
- 95% rare diseases lack FDA approved treatment
- Rare diseases impact more people than Cancer and AIDS combined
- 7000 types of rare and genetic diseases are known yet
Few Rare Genetic Disorders are:
- Albinism
- Angel man Disease
- Ankylosing Spondylitis
- Apert Syndrome
- Charcot-Marie-Tooth Disease
- Congenital Adrenal Hyperplasia
- Cystic Fibrosis
- Down Syndrome
- Ducchene Muscular Dystrophy
- Ehlers-Danlos syndrome
- Fragile X syndrome
- Haemochromatosis
- Haemophilia
- Huntington’s Disease
- Klinefelter Syndrome
- Marfan Syndrome
- Neurofibromatosis
- Noonan Syndrome
- Prader-Willi Syndrome
- Rett Syndrome
- Tay-SACHS Syndrome
- Thalassaemia
- Tourette syndrome
- Turner Syndrome
- Von Willebrand Disease
- Williams Syndrome
In Pakistan, Cousin Marriage is one significant cause of Rare and Genetic Diseases in Pakistan. Experts say that about 29 million people out of Pakistan’s 200 million population suffer from genetic defects due to close or first-cousin marriage. Pakistan’s Genetic Mutation Database covers 1,000 mutations in 120 disorders. According PGMD, the rate of consanguineous marriages (marriages among close cousins) in Pakistan is 62.70 percent.
The medical risks of first-cousin marriages may include higher rates of infant mortality, birth defects, learning difficulties, blindness, deafness, dumbness, epilepsy, thalassemia, spontaneous abortion, infertility, stillbirth and metabolic disorders.
Getting the accurate treatment for most rare diseases may change family’s life.
- Getting selective high-risk screening tests for symptomatic babies
- Selective diet and medication may improve situation
- They can be treated better if diagnosed at its earliest
- Avoid family marriages generations after generations