Hereditary Diseases Inheritance of Genetic Traits Presented By: M.Nasir Iqbal

Brief History §First there was Gregor Mendel, a monk who studied inherited characteristics. This was followed by Francis crick and James Watson who unraveled the DNA molecule. This has led us to understanding the human genome sequence

Watson and Crick §Watson and Crick made a model of the DNA molecule and proved that genes determine heredity

Arthur Kornberg §1957 §Arthur Kornberg (1918- ) of the U.S. produced DNA in a test tube.

Genetic code §1966 §The Genetic code was discovered; scientists are now able to predict characteristics by studying DNA. This leads to genetic engineering, genetic counseling.

Hereditary Diseases

§A disease or disorder that is inherited genetically or given to a child by its parents before it is born. §Types of Hereditary Diseases l Dominant l Recessive l Sex-Linked

Diseases §There are 100 of hereditary diseases identified. l Color blindness l Haemophilia l Sickle-cell disease o Kidney diseases o Diabetes o Asthma

Mutations §Gene mutations can be either inherited from a parent or acquired. A hereditary mutation is a mistake that is present in the DNA of virtually all body cells. Hereditary mutations are also called germ line mutations because the gene change exists in the reproductive cells and can be passed from generation to generation, from parent to newborn. Moreover, the mutation is copied every time body cells divide

Sickle Cell Anemia §An inherited, chronic disease in which the red blood cells, normally disc-shaped, become crescent shaped. As a result, they function abnormally and cause small blood clots. These clots give rise to recurrent painful episodes called "sickle cell pain crises".

Cause §Sickle-cell anemia is caused by the point mutation in Beta (β) globin gene. §Mutation in HBB gene cause of Sickle- Cell

Sickle Cell §Sickle cell disease is most commonly found in African American populations. This disease was discovered over 80 years ago, but has not been given the attention it deserves.

Asthma §A common disorder in which electronic inflammation of the bronchial tubes (bronchi) makes them swell, narrowing the airways. Asthma involves only the bronchial tubes and doesn’t affect the air sacs (alveoli) or lungs tissue (parenchyma of the lungs) itself.

Cause §Asthma disease is because of environment as well as genetic susceptibility. §Researchers have found five asthma genes ADAM33, PHF11, DPP10, GRPA and SPINK5. §DPP10, GRPA and SPINK5 deals with the damage from the external environment.

Asthma §The incidence of asthma has risen dramatically in the past 20 years. §This supports the important role that environmental influences (allergy, infection, lifestyle, and diet) have on the development of asthma.

Bioinformatics §It help in studying gene and DNA in more detail by using computational techniques. §Also we can find sequence and gene that causes hereditary diseases. Like in Sickle- cell anemia HBB gene cause of Sickle-cell.

Human Genome Project §Imagine a world in which we will be able to treat diseases by altering our very genes‚ giving us new ones if ours are non- functional, changing bad genes for good ones. For the first time in our existence, we are closer to understanding just what we are. We now have the tools to make the whole world better through science ‚ the science of the human genome.

Gene Therapy §1990. §Gene therapy was used on patients for the first time.

Gene Therapy §In gene therapy genes are inserted into an individual’s cells and tissue for curing diseases. §Gene therapy can also be used for curing hereditary diseases because genes that are affected replaced by functional genes.

Stem Cell §Present in almost all multi-cellular organisms stem cells have the ability to develop into different types of cells as they grow.

In Pakistan §Bahria University §UOP – University of Punjab §CIIT - COMSATS Institute of Information Technology

Research §Promoting healing by keeping skeletal stem cells 'young‘. §Insulin-like signal needed to keep stem cells alive in adult brain. §Nanotechnology and gene therapy yields treatment to torpedo cancer §Second Dose of Gene Therapy for Inherited Blindness Proves Safe in Animal Studies

Conclusion §Hereditary diseases can be cured by using Gene Therapy and Stem cell. §Curing hereditary diseases is in the initial stage so more research required in this field. §As Bioinformatics student we can help out scientist by developing such software that identify genes and DNA sequence.