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). ... read more »

Mitochondrial Diseases in Children a Thing of the Past?

Researchers from the NYSCF (New York Stem Cell Foundation) partnered with CUMC (Columbia Medical Center) to create a special technique to stop mitochondrial diseases from genetically passing on to children. The technique is in the earliest clinical stages. ... read more »

Ambras Syndrome

Ambras syndrome, also known as hypertrichosis, is associated withexcessive hair growth. There are two types of Ambras syndrome 'congenital and acquired. ... read more »

PKU – Phenylketonuria

Phenylketonuria or PKU is a genetic condition preventing the body from breaking down the amino acid phenylalanine and two similar substances commonly found in protein. PKU causes a build-up of the amino acid, which can lead to developmental delay. ... read more »

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. ... read more »

Lifestyle Choices that Reduce Male Fertility

There are hundreds of reasons for male infertility. Some are medical in nature and others are a result of an accident or extreme physical event that occurred early in life. Male fertility can be associated with prescription medications, genetics and age. ... read more »

Cystic Fibrosis

Cystic Fibrosis is a genetic disease that is chronic and life-threatening. A large portion of patients suffering from Cystic Fibrosis are children and young adults. The condition affects the lungs, gastrointestinal system, sweat glands and male reproductive system. ... read more »

Antiphospholipid Syndrome

Antiphospholipid syndrome, also referred to as Hughes syndrome, is a condition of the immune system that causes blood clotting and other complications. ... read more »

Crohn’s Disease in Pregnancy

Crohn's Disease is an inflammatory autoimmune disorder.Typically, the body can tell the difference between native and foreignsubstances, but patients with Crohn's Disease lack this ability. ... read more »

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. ... read more »

Premature Ovarian Failure Linked to Gene Mutation

A team of doctors has identified a specific gene mutation that is linked to premature ovarian failure (POF), a form of early menopause that leaves a woman infertile before the age of 40. ... read more »

Geneticist Sequences Unborn Son’s Entire Genome, Just for Fun

From the moment he knew he was going to be a father, Khan wanted to sequence his baby’s DNA to know more about his genetic makeup. ... read more »

The Fetal Brain: Now There’s a Map for That

A grant made it possible for a large team of researchers specializing in various fields of medicine and technology to map the fetal brain as its never been done before. ... read more »

Discovered: First Gene Strongly Associated with Autism

An international team of researchers has discovered a gene that is more strongly associated with autism than any other to date. ... read more »

Babies Leave Genetic Souvenirs in Mom's Body

A recent study from the Netherlands found Y-chromosomes, from baby boys, in every tissue sample they tested from the babys’ mothers. ... read more »

Genetic Testing

Genetic Testing ... read more »

What are the Types of Genetic Tests?

Genetic testing can provide information about a person's genes and chromosomes. ... read more »

Color Blindness And Pregnancy

Color blindness is an eye condition that affects how the patient sees color. Pigments that detect color variations do not work properly causing difficultly differentiating between certain colors or shades of the same color. ... read more »

Fetal DNA Pulled from Mom’s Blood

According to a study published in the journal Nature, mom's blood may hold the key to DNA and genetic testing. This study could be the first step in making genetic testing a part of prenatal care for all women. ... read more »

What Is A Gene Mutation and How Do They Happen?

How does a gene mutation happen? Are gene mutations rare? ... read more »

Barth Syndrome: Disease Characteristics and Growth Data

Barth Syndrome is a rare genetic disorder only associated with the X chromosome. The condition affects growth and causes cardiomyopathy and neutropenia. The study included males with an official diagnosis of Barth Syndrome (BTHS). ... read more »

Positive Parenting and Newborns with Cystic Fibrosis

Recruiting newborns into cystic fibrosis studies is important to research, but there are no studies into how parents feel about including their recently diagnosed newborns in treatment studies. ... read more »

Comprehensive Embryo Testing

The future of embryo testing may include complete genetic profiles aiming to predict the possibility of contracting or developing genetic diseases. ... read more »

Journalist Ponders Egg Donation and Motherhood

Amy Klein and her husband, Solomon, want to have a baby but they'refinding out that actually having one isn't as easy as merely wantingone. ... read more »

BPA Could Increase Down Syndrome Risk in Unborn Fetus

BPA, or Bisphenol A, is an ingredient in some plastics and other household items. The chemical has been in the news for more than a year thanks to several research studies proving negative side effects on the fetal level with maternal exposure. ... read more »

Gene Expression, Not Mutation, Linked to Endometriosis

A new study of the genetics of endometriosis may prove to be a turning point in how the disease is diagnosed and treated. ... read more »

Study Uncovers Genetic Cause of Premature Ovarian Failure

An in-depth study of the genomes of the members of a family who all share a common ancestor has revealed a genetic cause for premature ovarian failure (POF). ... read more »

BRCA Mutation

BRCA1 and BRCA2 mutations are not gender specific and can affect both men and women. A genetic counselor can discuss with you your individual risks and recommend certain methods of genetic testing. ... read more »

Congenital Adrenal Hyperplasia (CAH), Fertility and Pregnancy

CAH or congenital adrenal hyperplasia is a disease caused by gene mutation. The condition affects cortisol, cholesterol and adrenal gland function. All CAH patients have some level of impaired fertility. ... read more »

Genetic Mutations Linked to Paternal Age

Hollywood stars are known for waiting later in life to start families, but researchers say men who wait longer may be increasing the risk of passing genetic mutations like autism on to offspring. ... read more »

D-Loop Genotyping May Predict Endometriosis Risk

Researchers in India recently published a study in the journal Fertility and Sterility supporting D-Loop genotyping to predict risk of endometriosis. ... read more »

Designer Babies Could be Tested to Perfection

With the development and perfection of genetic testing, every chromosome in the human body can be tested for faults and defects. This testing can and does take place while the fetus is in-utero, so what is stopping couples from aborting a fetus because chromosomal testing reveals an imperfection? ... read more »

Familial Dysautonomia

Familial Dysautonomia, also known as Riley-Day syndrome, affects the development and function of nerves throughout the body. ... read more »

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. ... read more »

Walker Warburg Syndrome

WWS, also known as Walker Warburg Syndrome, is a genetic condition passed on to children of parents with two recessive genes. Both parents must have the recessive gene for children to be born with the condition. ... read more »

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. ... read more »

Microarray More Accurate Than Karyotyping

Genetic testing is an important part of diagnosing and treating chromosomal abnormalities. Currently, karyotyping is the most prevalent form of prenatal genetic testing, but the results of microarray testing appear to be more accurate. ... read more »

BPA Exposure Affects Up to Four Generations of Offspring

While animal studies are not often comparable to human studies, they can tell us a bit about how the body works and what to expect or look for in human studies. A recent study provided some very interesting information on BPA or Bisphenol A. ... read more »

How an Extra Chromosome Changes Entire Genome of Twins

Dr. Stylianos Antonarakis and his international team of researchers had the rare opportunity to study the genomes of identical twins where one twin had Down syndrome and the other did not. ... read more »

What is the Cost and How Long is the Genetic Testing?

The cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test. ... read more »

Living with Congenital Heart Disease

Some congenital heart disease conditions are mild enough to be left untreated without reducing lifespan or quality of life, though there are lifestyle changes and health care that must be taken into consideration. If the condition worsens, at any time, further medical treatment may be needed. ... read more »

Can Changes in Chromosomes Affect Health and Development?

Human cells normally contain 23 pairs of chromosomes, for a total of 46chromosomes in each cell. A change in the number of chromosomes can cause problems with growth, development, and function of the body's systems. ... read more »

Genetic Similarity Between Autism and Schizophrenia

New discoveries of genetic mutations link autism, schizophrenia, certain seizure disorders, and certain intellectual disabilities as stemming from a common origin. ... read more »

Link Between Childhood Leukemia and a Genetic Mutation

A recent study of the genomes of children with a rare form of acute lymphoblastic leukemia (ALL) found that this particular genetic mutation increases a child's risk of cancer by 2,700 times. ... read more »

Should Newborn Screening Protocols Include Genome Sequencing?

Researchers at McGill University in Montreal, Canada, question the value of including genome sequencing to the standard regimen of tests given to newborn babies. ... read more »

Genetic Testing to Prevent Fatal Brain Disease in Children

A 27-year-old woman wanted to have children but she did not want her children to live as she does, knowing she is genetically inclined to develop a very rare crippling brain disease. ... read more »

Blood Test for Pregnant Women Shows RNA Activity in Fetus

Researchers at Stanford University in California have developed a test that uses a small sample of a pregnant woman's blood to monitor the RNA activity of a fetus throughout pregnancy. ... read more »

Genetic Variations in Infants with Neonatal Abstinence Syndrome

NAS is caused by opioid-dependence during pregnancy. Researchers revealed a connection between genetic variants in newborns with the condition, length of hospital stay and necessary treatment. ... read more »

Common Genetic Conditions Due to Ethnicity

Some genetic disorders are more likely to occur among people who trace their ancestry to a particular geographic area. People in an ethnic group often share certain versions of their genes, which have been passed down from common ancestors. ... read more »

Reversing Damaged Eggs Due to Cancer Treatments

Researchers at Cornell University in Ithaca, New York, have found a way to reverse the damage done to the immature eggs (oocytes) of female mice exposed to radiation. ... read more »

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