Genetic Diseases in Palestine 2017 Mutaz Manasrah MSc

Genetic Diseases in Palestine 2017 �Mu’taz Manasrah MSc, Biochemistry and Molecular Biology Coordinator, Genetic and Metabolic Diseases Center

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

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

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

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

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

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 23 rd pair are called sex chromosomes: XX is female, XY is male.

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.

Modes of inheritance of genetic diseases �Autosomal recessive disorders �Autosomal dominant disorders

COMMON GENETIC DISORDERS IN PALESTINE

Familial Mediterranean Fever FMF � 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).

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 about 16, 000 carriers of thalassemia in Palestine (TPFS) � Mandatory pre-marital screening adopted in 2000 �

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.

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

Caused by abnormalities during cell division process Incidence increases with mother age

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

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) �

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.

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).

Consanguinity rate in Arab countries

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.

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. �