Genetic Diseases in Palestine 2017

1. Genetic Diseases in Palestine2017 • Mu’tazManasrahMSc, Biochemistry and Molecular Biology Coordinator, Genetic and Metabolic Diseases Center

2. Genetic and Metabolic Diseases Center - GMDC • Was established in 2010 • Located at Al-Quds University, medical school • Aims to help in the reduction of genetic diseases in Palestine by conducting research, providing genetic counseling service, and raising awareness

3. Genetic concepts • What is genetics? • “Genetics is the study of heredity, the process in which parents pass certain genes to their children.”

4. Genetic concepts • DNA: is a nucleic acid that contains the genetic instructions specifying the biological development of all cellular forms of life

5. Genetic concepts Gene: The gene is the basic physical unit of inheritance.. Humans have approximately 20,000 genes arranged on their chromosomes.

6. Genetic concepts • ChromosomeIn the nucleus of each cell, the DNA molecule is packaged into thread-like structures called chromosomes. • Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure.

7. Genetic concepts • Human body cells contain 46 chromosomes in 23 pairs – one of each pair is inherited from each parent. • Chromosome pairs (1– 22) are called autosomes. • The 23rd pair are called sex chromosomes: XX is female, XY is male.

9. Genetic diseases • What is a genetic disease? • is a disease that is caused by an abnormality in an individual's DNA. • Abnormalities can be as small as a single-base mutation(change) in just one gene, or they can involve the addition or deletion of an entire chromosome.

10. Modes of inheritance of genetic diseases • Autosomal recessive disorders • Autosomal dominant disorders

11. Common genetic disorders in Palestine

12. Familial Mediterranean FeverFMF • The condition usually affects people of Mediterranean ancestry • It is caused by a mutation in the MEFV gene. This gene creates protein involved in inflammation. • Symptoms usually begin at 5 to 15 years which include recurrent abdominal pain attacks accompanied by high fever. • Incidence rate among Palestinians is estimated at 1:2,000 (Said et al 1992).

13. Thalassemia • Is an autosomal recessive genetic disorder which involves an abnormality in hemoglobin synthesis. • Two forms: major (alpha, beta) and minor • Symptoms include: bone deformities especially in the face, yellow or pale skin, delayed growth and development, and fatigue. • Approximately 819 cases of this disease were recorded in Palestine (2016) • There are about 16,000 carriers of thalassemia in Palestine (TPFS) • Mandatory pre-marital screening adopted in 2000

15. Cystic Fibrosis • Defect in the transport of chloride ions across epithelia and increased absorption of Na+ and water to the blood, due to mutations in the CFTR gene • Incidence: 1:2000 live births • Symptoms include: persistent cough with thick mucus, repeated lung infections, breathlessness, and wheezing.

16. Down Syndrome • Not a genetic disorder according to the classic definition • Down syndrome (trisomy 21: 47)

17. Caused by abnormalities during cell division processIncidence increases with mother age

18. Fragile -X • Fragile X syndrome is an X-linked disorder. • Males are predominantly affected. • Symptoms: Intellectual disability Prominent ears (one or both) Long face (vertical maxillary excess) Hyper extensible finger joints Double-jointed thumbs Flat feet Soft skin

20. PKU • Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine • PKU testing is part of the MOH newborn screening program. • Strict diet forever • Symptoms: Intellectual disability Delayed development Behavioral, emotional and social problems Psychiatric disorders Neurological problems that may include seizures Hyperactivity Poor bone strength • Skin rashes (eczema)

23. What about ….Blood Pressure?Diabetes?Heart Diseases?Cancer?Influence of multiple genes and environmental factors play a role in these diseases which are relatively frequent.

24. Consanguinity in the Arab world • Definition: term used to describe marriage between related individuals such as first or second cousins. • In different Arab countries, the rate of consanguineous marriages varies from 23.3% to 57.9%. • In Palestine, the rate is about 44% (22% between first cousins).

25. Consanguinity rate in Arab countries

26. Genetic Counseling • Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family. • The genetic counselor determines whether a condition in the family may be genetic and estimates the chances that other offsprings may be affected. • Genetic counselors also offer and interpret genetic tests that may help to estimate risk of disease.

27. Genetic Counseling is recommended for • Personal history of one or more birth defects. • Personal history of recurrent pregnancy losses. • Family history of cancer, cardiovascular problems, progressive neurological conditions known to be genetically determined. • Family history of a close relative with a sudden and un explained death. • A neonate with an abnormal newborn screening test. • A child with significant hearing loss or deafness.