According to the World Health Organization (WHO): Genetics is the study of heredity, while Genomics is defined as the study of genes and their functions, and related techniques. Genomics is a relatively new term, being used more frequently since the mid-1990's. The main difference between genomics and genetics is that genetics scrutinizes the functioning and composition of the single gene whereas genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism.
Spinal Muscular Atrophy
Spinal Muscular Atrophy is a genetic disorder that affects motor neurons. The protein needed to keep these motor neurons alive is not coded correctly by the SMN1 gene.
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Neiman Pick Disease
Neiman Pick disease is a group of genetic diseases. There are five types
of the disease, types A, B, C, D and E. Each type of Neiman Pick
affects different organs, but all affect cholesterol storage, fat
storage or both.
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Fanconi Anemia
Fanconi Anemia is a genetic disorder that affects the bone marrow'sability to produce new or healthy red blood cells. Both parents mustcarry the affected gene to pass the disorder onto their children.
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Familial Mediterranean Fever
Familial Mediterranean Fever (FMF) is a genetic disorder passed down
from parents to children. The disease causes high fevers and bouts of
inflammation.
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Familial Hyperinsulinism
Familial Hyperinsulinism affects insulin levels, which in turn affects blood glucose levels. Patients with the condition release too much insulin. Too much insulin causes blood glucose levels to drop, leading to hypoglycemia.
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Which Genes Will Your Baby Inherit?
When I was born, I was lucky enough to get my dad’s recessive blue eyes. This doesn’t happen too often though, which always gets people guessing about which traits their baby will ultimately inherit.
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Müllerian agenesis - Mayer–Rokitansky–Küster–Hauser Syndrome
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system.
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Factor XI Deficiency
Factor XI deficiency is a blood clotting disorder similar to hemophilia.
There is a wide variance in symptoms with mild, moderate and severe
cases.
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How Can I Find a Genetics Professional in My Area?
To find a genetics professional in your community, you may wish to
ask your doctor for a referral. If you have health insurance, you can
also contact your insurance company to find a medical geneticist or
genetic counselor in your area who participates in your plan.
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What are the Types of Genetic Tests?
Genetic testing can provide information about a person's genes and chromosomes.
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Genetics, Genomics, and Pregnancy
Genetics is the science of inheritance, how traits such as hair color, eye color, and risk for disease are passed (“inherited”) from parents to their children.
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Klinefelter Syndome 47, XXY
What is Klinefelter syndrome?
Klinefelter syndrome is a set of symptoms named after Dr. Harry Fitch Klinefelter, Jr. who was an American rheumatologist and endocrinologist. ... read more »
Bloom Syndrome
Bloom Syndrome is a rare genetic disorder first recognized and described by Dr. David Bloom. Another name for Bloom Syndrome is Bloom-Torre-Machacek Syndrome.
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Antiphospholipid Syndrome
Antiphospholipid syndrome, also referred to as Hughes syndrome, is a condition of the immune system that causes blood clotting and other complications.
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Canavan Disease
Canavan Disease is a genetic disorder commonly found in Ashkenazi Jews.
The disease causes a premature breakdown of white matter in the brain.
The disease is associated with chromosome 17.
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Machado Joseph Disease
Machado Joseph disease is a genetic disorder affecting muscle movement and development. Unlike many other genetic diseases, only one parent needs to carry the gene to pass the condition onto children.
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Tay Sachs Disease
Tay Sachs disease is caused by a defective gene on the 15th chromosome.
Both parents must have the defective gene to pass the active disease to a
child. If both parents carry the defective gene, children have a 25%
chance of having an active form of Tay Sachs.
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Joubert Syndrome
Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. To be inherited, parents must possess multiple recessive mutated genes.
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Glycogen Storage Disorder
The term Glycogen Storage Disorder is used to describe a collection of
genetic diseases that affect how glucose is converted to glycogen or how
glycogen is broken down into glucose.
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Merlob Grunebaum Reisner Syndrome
Familial opposable triphalangeal thumbs duplication: A rare birth malformation where the thumb has three bones instead of the normal two which gives it a fingerlike appearance. An extra toe is also present.
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What is a Cell?
Cells are the basic building blocks of all living things.
The human body is composed of trillions of cells. They provide structure
for the body, take in nutrients from food, convert those nutrients into
energy, and carry out specialized functions.
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Jewish Genetic Disorder: Mucolipidosis IV
Mucolipidosis IV is a rare genetic disorder passed down from parents to children. Both parents must carry the recessive gene for children to be affected. About 95% of people with Mucolipidosis IV have the typical or severe strain.
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Fabry Disease
Fabry Disease is a genetic disorder passed along to children from the
mother. The gene for the disorder is carried on the X chromosome.
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Torsion Dystonia
Torsion Dystonia is a progressive genetic disorder that causes painful and debilitating muscle contractions. The most common form of the disease is early-onset with symptoms appearing in childhood.
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Lipoamide Dehydrogenase Deficiency
Lipoamide Dehydrogenase Deficiency is an extremely rare disease often
referred to as E3. The condition is inherited. Due to the extreme rarity
of the condition, significant medical information and treatment options
are lacking.
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Maple Syrup Urine Disease
Maple Syrup Urine Disease is a genetic disorder. The most noticeable
symptom of the condition is sweet scented urine that may smell similar
to maple syrup. The disease prevents the body from breaking down amino
acids effectively.
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Nemaline Myopathy
Nemaline Myopathy is a non-progressive neuromuscular disease that
affects muscle strength and development. This condition is one of the 40
diseases currently covered by the MDA (Muscular Dystrophy Association).
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Usher Syndrome
Usher Syndrome is a relatively common genetic disorder that primarily
affects vision and hearing. In some cases, children with a severe form
of the disorder are born with substantial balance problems that affect
motor coordination.
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What is DNA?
DNA, or deoxyribonucleic acid, is the hereditary material in humans andalmost all other organisms. Nearly every cell in a person's body has the same DNA. Most DNA is located in the cell nucleus (where it is callednuclear DNA).
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What is Mitochondrial DNA?
Although most DNA is packaged in chromosomes within the nucleus,
mitochondria also have a small amount of their own DNA. This genetic
material is known as mitochondrial DNA or mtDNA.
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What is a Gene?
A gene is the basic physical and functional unit of heredity. Genes,
which are made up of DNA, act as instructions to make molecules called
proteins. In humans, genes vary in size from a few hundred DNA bases to
more than 2 million bases.
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What is a Chromosome?
In 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.
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How Many Chromosomes do People Have?
In humans, each cell normally contains 23 pairs of chromosomes, for a
total of 46. Twenty-two of these pairs, called autosomes, look the same
in both males and females. The 23rd pair, the sex chromosomes, differ
between males and females.
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What are Proteins and What Do They Do?
Proteins are large, complex molecules that play many critical roles inthe body. They do most of the work in cells and are required for thestructure, function, and regulation of the body's tissues and organs.
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How Can Gene Mutations Affect Health and Development
To function correctly, each cell depends on thousands of proteins to do
their jobs in the right places at the right times. Sometimes, gene
mutations prevent one or more of these proteins from working properly.
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Do All Gene Mutations Affect Health and Development?
No; only a small percentage of mutations cause genetic disorders'mosthave no impact on health or development. For example, some mutationsalter a gene's DNA sequence but do not change the function of theprotein made by the gene.
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Can Genes be Turned On and Off in Cells?
Each cell expresses, or turns on, only a fraction of its genes. The rest
of the genes are repressed, or turned off. The process of turning genes
on and off is known as gene regulation. Gene regulation is an important
part of normal development.
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What is the Epigenome?
DNA modifications that do not change the DNA sequence can affect gene
activity. Chemical compounds that are added to single genes can regulate
their activity; these modifications are known as epigenetic changes.
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How Genes Work
How Genes Work
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How do Cells Divide?
There are two types of cell division: mitosis and meiosis. Most of thetime when people refer to 'cell division,' they mean mitosis, theprocess of making new body cells. Meiosis is the type of cell divisionthat creates egg and sperm cells.
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How do Genes Control the Growth and Division of Cells
A variety of genes are involved in the control of cell growth anddivision. The cell cycle is the cell's way of replicating itself in anorganized, step-by-step fashion.
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How do Geneticists Indicate the Location of a Gene?
Geneticists use maps to describe the location of a particular geneon a chromosome. One type of map uses the cytogenetic location todescribe a gene's position.
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What are Gene Families?
A gene family is a group of genes that share important characteristics.
In many cases, genes in a family share a similar sequence of DNA
building blocks (nucleotides).
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What do Geneticists Mean by Anticipation?
The signs and symptoms of some genetic conditions tend to become
more severe and appear at an earlier age as the disorder is passed from
one generation to the next. This phenomenon is called anticipation.
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What are Genomic Imprinting and Uniparental Disomy?
Genomic imprinting and uniparental disomy are factors that influence how some genetic conditions are inherited.
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Are Chromosomal Disorders Inherited?
Although it is possible to inherit some types of chromosomal
abnormalities, most chromosomal disorders (such as Down syndrome and
Turner syndrome) are not passed from one generation to the next.
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What Kinds of Gene Mutations are Possible?
The DNA sequence of a gene can be altered in a number of ways. Gene
mutations have varying effects on health, depending on where they occur
and whether they alter the function of essential proteins.
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What is a Genetic Consultation?
A genetic consultation is a health service that provides information and
support to people who have, or may be at risk for, genetic disorders.
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Why Might Someone Have a Genetic Consultation?
Individuals or families who are concerned about an inherited condition
may benefit from a genetic consultation. The reasons that a person might
be referred to a genetic counselor, medical geneticist, or other
genetics professional include:
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What Happens During a Genetic Consultation?
A genetic consultation provides information, offers support, andaddresses a patient's specific questions and concerns. To help determine whether a condition has a genetic component, a genetics professionalasks about a person's medical history.
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