Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Benefits and risks of breastfeeding

Extensive medical research shows that mothers' milk satisfies babies' nutritional needs far better than any manufactured infant formula.

17 Sep 2007

Screening all babies for high cholesterol could save many lives

Doctors in the UK say in order to reduce the number of people suffering from heart disease children as young as 15 months should be screened for high cholesterol.

17 Sep 2007

New insights into retinal growth

Peering at microscopic changes within the retina, scientists in the Department of Ophthalmology at Weill Cornell Medical College in New York City, have discovered a key mechanism driving eye health and eye disease.

12 Sep 2007

Rochester receives $1.2 million to battle rare childhood disease

"For an orphan disease like Batten, which has such a clear-cut course of deterioration and no present cure, this grant is transformative both for these families and for us, as clinicians and researchers."

12 Sep 2007

New discovery for Fragile X Syndrome

An important finding has been made by McMaster researchers about Fragile X Syndrome (FXS), a sex-linked genetic disorder that affects approximately one in 4,000 males and one in 6,000 females.

11 Sep 2007

Mutations in the insulin gene can cause permanent neonatal diabetes

Mutations in the insulin gene can cause permanent neonatal diabetes, an unusual form of diabetes that affects very young children and results in lifelong dependence on insulin injections, report researchers from the University of Chicago and Peninsula University (Exeter, UK) in Sept. 18, 2007, issue of the Proceedings of the National Academy of Sciences, published early online.

11 Sep 2007

Myoendothelial cells identified as new human source of stem cells with potential to repair muscle

For the first time, scientists at Children's Hospital of Pittsburgh of UPMC have discovered a unique population of adult stem cells derived from human muscle that could be used to treat muscle injuries and diseases such as heart attack and muscular dystrophy.

5 Sep 2007

Autoimmune response, triggered by genes, can be a barrier to producing a viable offspring

Plant biologists at the Max Planck Institute of Developmental Biology and the University of North Carolina at Chapel Hill have discovered that an autoimmune response, triggered by a small number of genes, can be a barrier to producing a viable offspring.

4 Sep 2007

Discovery of new gene family essential for embryonic development

The family controls the expression of genes crucial for stem cell maintenance and differentiation, and the results may contribute sig-nificantly to the understanding of the development of cancer.

24 Aug 2007

New findings on cholesterol metabolism

A team of researchers investigating cholesterol and lipid transport has performed experiments that cast serious doubt on the dominant hypothesis of how the body rids its cells of "bad" cholesterol (LDL) and increases "good" cholesterol (HDL).

17 Aug 2007

Why is heart disease so prevalent among diabetics?

Heart disease hits people with diabetes twice as often as people without diabetes.

13 Aug 2007

Mitochondrial DNA variants are linked to risk factors for type 2 diabetes

Researchers report for the first time that genetic variants in mitochondria,energy-producing structures harboring DNA that are inherited only from the mother,are directly linked to metabolic markers for type 2 diabetes.

13 Aug 2007

Leptin controls our fondness for food

Scientists have discovered that leptin, one of the key hormones responsible for reducing hunger and increasing the feeling of fullness, also controls our fondness for food.

12 Aug 2007

New insight into mechanism of DNA-break repair

A new UC Davis study that explains the actions of a gene mutation that causes early onset cancer provides a fundamental insight into the mechanism of DNA-break repair.

6 Aug 2007

Key signs of appendicitis

A 5-year-old with abdominal pain, nausea and fever may have appendicitis or any of a number of other problems.

3 Aug 2007

Discovery of molecular pathway that detects and eliminates defective messenger RNAs from red blood cells

Other such pathways - known as surveillance pathways - operate in a more general way, in many cell types. Knowing how this specific surveillance system works can help researchers better understand hereditary diseases, in this case, thalassemia, a form of anemia, which is the most common genetic disorder worldwide.

3 Aug 2007

Colon cancer may benefit from hormone replacement therapy

Researchers at the Kimmel Cancer Center at Jefferson in Philadelphia have found new evidence suggesting that colon cancer is actually a disease of missing hormones that could potentially be treated by hormone replacement therapy.

2 Aug 2007

New risk genes for multiple sclerosis

Two new large-scale genomic studies have honed in on the main genetic pathway associated with multiple sclerosis (MS), while also uncovering new genetic variations in the disease and suggesting a possible link between MS and other autoimmune diseases.

1 Aug 2007

Genomics study provides insight into the evolution of unique human traits

Researchers from the University of Colorado Health Sciences Center, along with colleagues from Stanford University, report the results of a large-scale, genome-wide study to investigate gene copy number differences among ten primate species, including humans.

1 Aug 2007

Disparities in infant mortality more to do with racism than with race

The cause of low birth weights among African-American women has more to do with racism than with race, according to a report by an associate professor of pediatrics at the University of Illinois at Chicago.

1 Aug 2007