This ppt make by suraj tekam. It's my containt. So it's basic knowledge of genetic diseases.

1. Suraj Tekam
Msc 2nd Sem
Govt. Autonomous P.G College Chhindwara M.P.

2. TOPIC - GENETIC DISEASE
 A genetic disease or disorder is an illness caused by one or
abnormalities In the genome, especially a condition that is
present from birth (congenitial).
 Most genetic disorders are quite rare and affect one
Person in every several thousands or millions.
 Genetic disoders may or may not be heritable, i.e. , passsed
Down from the genetic genes.
INTRODUCTION

3. HISTORY
 1866 – First there was gregor mendal, who studied
Inherited characteristics.
This was followed by francis crick and james waston who
Unraveled the DNA molecule.
 this has led us to understanding the human genome sequence.
 1950’s – Maurice wilkins, Rosalind, Francis H. C. Crick of
Bratain and James D. Watson of the U.S. discover chemical
Structure of DNA, starting a new branch of science – molecular
Biology .
 1957 – Authur kornberg of the U.S. produced DNA in a test
Tube.
 Late 1980’s – An international team of scientists began
The project to map the human genome.
 1990 – Gene therapy, first used for patient.

4. CLASSIFICATION
• Single gene disorder
• Chromosomal genetic disorder
• Multifactorial genetic disorder

5. 1. SINGLE GENE DISORDER
These disorders involve mutations in the DNA sequences
of single genes. As a result, the protein the gene codes for
is either altered or missing.
 Over 4000 human diseases caused by single gene
defects.
Some Example: Adenosine deaminase deficiency, Alpha-
1 Antitrypsine deficiency, Cystic fibrosis, Galatosemia,
Huntington's disease, Maple syrup urine disease,
Phenylketonurimea c, Severe combined immunodeficiency,
Sickle cell disease, Smith-Lemil-Optiz Syndrome

6. a. CYSTIC FIBROSIS
Cystic fibrosis is a genetic disorder that affects the
respiratory and digestive systems.
People with cystic fibrosis inherit a defective gene on
chromosome 7 called CFTR (cystic fibrosis transmembrane
conductance regulator).
 The protein produced by this gene normally helps salt
(sodium chloride) move in and out of cells.Chromosome 7
If the protein doesn't work correctly, that movement is
blocked and an abnormally thick sticky mucus is produced on
the outside of the cell.
 The cells most seriously affected by this are the lung cells.
This mucus clogs the airways in the lungs, and increases the
risk of infection by bacteria.
The thick mucus also blocks ducts in the pancreas, so
digestive enzymes can't get into the intestines.

7. b. GALACTOSEMIA
Galactosemia is a rare disorder that affects the body's
ability to break down a food sugar called galactose.
 The body breaks down lactose into galactose and
glucose and uses thesesugars for energy.
Most people with galactosemia are missing an enzyme
(called GALT) that helps further break down galactose.
 Defects in galactose metabolism cause toxic chemicals
to build up in cells of the body.

8. c. SEVERE COMBINED
IMMUNODEFICIENCY (SCID)
 SCID is a group of very rare-and potentially fatal-inherited
disorders related to the immune system.
People with SCID have a defect in their immune system that
leaves them vulnerable to potentially deadly infections.
The most common form is caused by a mutation in the
SCIDX1 gene located on the X chromosome.

9. d. SICKLE CELL DISEASE
Sickle cell disease is a disorder that affects the red blood
cells, which use a protein called hemoglobin to transport
oxygen from the lungs to the rest of the body.
Normally, red blood cells are round and flexible so they
can travel freely through the narrow blood vessels.
The hemoglobin molecule has two parts: an alpha and a
beta.
 Patients with sickle cell disease have a mutation in a gene
on chromosome 11 that codes for the beta subunit of the
hemoglobin protein.
As a result, hemoglobin molecules don't form properly,
causing red blood cells to be rigid and have a concave shape
(like a sickle

11. OH MY GOD !!!
World rarest disease (it’s a genetic disease)
Fibrodysplasia
Ossificans
Progressiva (FOP)
:Sometimes called
"stone man"
syndrome, is
extremely rare genetic
disease causes soft
tissue to turn into
bone.

12. 2. CHROMOSOMAL GENETIC DISORDER
In these disorders, entire chromosomes, or large
segments of them, are missing, duplicated, or otherwise
altered.
Can be organized into two basic groups:
1) Numerical Abnormalities: When an individual is missing
either a chromosome from a pair (monosomy) or has more
than two chromosomes of a pair (trisomy)
2) Structural Abnormalities: When the chromosome's
structure is altered.
Some Examples: Cri-Du-Chat Syndrome,Down
Syndrome, 47 XXY Klinefelter Syndrome, Turner
Syndrome (Monosomy), William Syndrome

13. b. DOWN SYNDROME
 Down syndrome is a developmental disorder caused by
an extra copy of chromosome 21 (which is why the disorder
is also called "trisomy 21").
 Having an extra copy of this chromosome means that
individuals have three copies of each of its genes instead of
two, making it difficult for cells to properly control how much
protein is made.
 Producing too much or too little protein can have serious
consequences.

14. c. TURNER SYNDROME
Turner syndrome is caused by a missing or
incomplete X chromosome.
People who have Turner syndrome develop as
females.
 The genes affected are involved in growth and sexual
development, which is why girls with the disorder are
shorter than normal and have abnormal sexual
characteristics.

15. d. WILLIAMS SYNDROME
Access the ultimate library
with Scribd.Williams
syndrome is a rare genetic
disorder that affects a
child's growth, physical
appearance, and cognitive
development.
People who have Williams
syndrome are missing
genetic material from
chromosome 7, including
the gene elastin.

16. COLORBLINDNESS
 Mutated
genes are
located on the
X- chromosome
(for red/green
color blindness)
or both the X
and Y
chromoso mes
(for total color
blindness).

17. 3. MULTIFACTORIAL DISORDER
 These disorders involve variations in
multiple genes, often coupled with
environmental causes.
Some example: Alzheimer’s disease,
Breast/Ovarian Cancer, Colon Cancer,
Hypothyroidism. Asthma, cancers, cleft
palate, diabetes, heart disease,
hypertension, inflammatory bowel
disease, mood disorder, obesity, refractive
error, infertility

18. a. ALZHEIMER’S DISEASE
 Alzheimer's is a disease that causes dementia, or loss
of brain function. It affects the parts of the brain that deal
with memory, thought, and language.
The brain of a person with Alzheimer's contains
abnormal clumps of cellular debris and protein(plaques)
and collapsed microtubules (support structures of the
cell).
Microtubule disintegration is caused by a malfunctioning
protein called tau, which normally stabilizes the
microtubules.
In Alzheimer's patients, tau proteins instead cluster
together to form disabling tangles.
These plaques and tangles damage the healthy cells
around them.

19. Because Alzheimer's
destroys brain cells,
people who have the
disorder slowly lose
their ability to think
clearly.
At first, they may
forget words or names,
or have trouble finding
things.As the disorder
worsens, they may
forget how to do simple
tasks.