GENETIC DISEASES IN PALESTINE 2015 Enass Tinah MSc

GENETIC DISEASES IN PALESTINE 2015 � Enass Tinah MSc Molecular Biology Brigham Young University

� What is genetics? �“Genetics is the study of heredity, the process in which a parent passes certain genes onto their children. ”

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

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

• Chromosomes are made of DNA and protein.

• Human body cells contain 46 chromosomes in 23 pairs – one of each pair 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.

� What is a genetic disease? A genetic disease is caused by an abnormality in an individual's DNA. Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. �

� Autosomal recessive disorders � Autosomal dominant disorders

� caused by a mutation in the MEFV gene. This gene creates proteins involved in inflammation. � The condition usually affects people of Mediterranean ancestry � Incidents among Palestinians estimated at 1: 2, 000 (Said et al 1992). � Symptoms usually begin ages 5 and 15. Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs, along with high fevers that usually peak in 12 to 24 hours.

� Hemoglobinopathies are prevalent among Palestinians. � ß Thalassemia : the genetic defect, which could be either mutation or deletion, results in reduced rate of synthesis or no synthesis of one of the globin chains that make up hemoglobin in red blood cells. � Mandatory pre-marital screening adopted in 2000

� 1: 2000 live births � Defect in the transport of chloride ions across epithelia - increased absorption of Na+ and water to the blood � Widespread defect in the exocrine glands - abnormally viscid mucous secretions � Blockage of airways, pancreatic ducts, biliary ducts

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

• Caused by abnormalities during cell division process Affected by the Mother’s age

� Fragile X syndrome is an X-linked. � Males are predominantly affected; � Intellectual disability � Prominent ears (one or both) � Long face (vertical maxillary excess) � Hyperextensible finger joints � Double-jointed thumbs � Flat feet � soft skin

� 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 for ever

� Hereditary hearing loss � Muscular Atrophy

What about …. Blood Pressure? Diabetes? Heart Diseases? Cancer? Influence of multiple genes + environmental factors Relatively frequent

� Definition: Term used to describe unions contracted between biologically related individuals as second cousins or closer. � Could also be defined as unions between individuals with at least one common ancestor. ( population isolates, small towns, tribes). � Declined in industrialized countries

� 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 another relative may be affected. � Genetic counselors also offer and interpret genetic tests that may help to estimate risk of disease.

� Premarital � During pregnancies � Family history of genetic disease

� Was established in 2010 � Located at Al-Quds university medical school � Aims at reducing genetic diseases rates in Palestine � Research. Genetic counseling. Awareness

Palestine 150 known genetic disorder for now!