Rare Diseases

Rare diseases are defined as a very mixed group of diseases which generally affects more than one system of the body, with a prevalence of less than 1/2000 in the community.

Characteristics of Rare Diseases

• Rare diseases are very severe, chronic, often progressive and life-threatening.
• In 50% of rare diseases, the disease begins from the childhood.
• Patients' quality of life is often compromised in rare diseases.
• Rare diseases can be psychosocially painful and hard for families.
• Most of the Rare Diseases has no effective treatment options.
• Mentally and economically, it is difficult to manage rare diseases for families.

About 80% of Rare Diseases have an identified genetic origin that occur as a result of mutations in chromosomes or genes and the disease can pass generation to generation, such diseases are referred to as rare, genetic diseases.  The remaining 20% are caused by environmental factors or unknown causes. More than 7000 rare diseases have been described so far.

How common is a rare disease in the world? 

1 out of every 15 people is affected by rare diseases worldwide, more than 400 million people, including 30 million in Europe and 25 million in the United States.

How common is a rare disease in Turkiye?

Our country, Turkiye,  is one of the countries where rare diseases are very common because it is a hub of different cultures also because of the high rate of consanguineous marriages (such as 25%). It is estimated that approximately 5 million people are affected by rare diseases. 

How are rare diseases diagnosed? 

Diagnosis of rare diseases has been made successfully in recent years with the state art technologies in genomics. With Next Generation Sequencing methods like Whole Exome Sequencing Analysis, Whole Genome Sequencing Analysis and Mitochondrial Genome analysis as well as with the other techniques in genetic field, the diagnosis of the rare diseases can be made easily in every stage of life. 

Can rare diseases be cured? 

95% of rare diseases do not have a cure yet. In addition, 75% of rare diseases affect children in early age and 30% of children with rare diseases die before the age of 5. For this reason, physical and psychological rehabilitation is applied to these patients and families. 

What are the prevention methods for Rare Diseases?

As mentioned the cure or treatment of Rare diseases are difficult and expensive however it is easy and inexpensive to prevent Rare Diseases by  preventive medicine. In preventive medicine, it is important to inform the society, to reduce consanguineous marriages, to perform genetic tests before marriage, and to prevent the birth of sick children by giving genetic counseling and genetic testing to couples who are carriers of specific diseases. 

In that matter, we recommend two methods to couples who have an underlying genetic conditions as carriers;

1) After natural pregnancy, on the 3-4th month of pregnancy, with Prenatal Testing and Prenatal genetic Screening  methods it can be analyzed whether the baby has a rare genetic disease ( like Down Syndrome ,etc. )

2) If the couples are carriers with the in vitro fertilization method (IVF), genes that caused to disease can be removed, which we call Preimplantation Genetic Diagnosis.

We recommend the second method to families who has children with a genetic disease, it is ensured that the sick child has suitable tissue types with the new child so that the new child's stem cells can be transplanted to the sick child and treatment can be provided.

Especially in our country, where consanguineous marriages are as high as 25%, we recommend all couples to get Carrier Screening Panels before pregnancy. 

We offer wide Range of RARE DISEASE PANELS

Chromosome Analysis + Complete Blood Count + Whole Exome Analysis

Chromosome Analysis + Complete Blood Count + Whole Genome Analysis

Chromosome Analysis+ Complete Blood Count+ Mitochondrial Genome Analysis

To get more information about genetic testing and genetic counseling please contact with us.