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.

FDA can promote personalized medicine by identying gaps in laboratory operations: ACLA

The Food and Drug Administration can promote progress toward personalized medicine by approaching the oversight of laboratory developed tests (LDTs) in a focused, flexible, and balanced way according to the American Clinical Laboratory Association (ACLA). ACLA, which represents the nation's leading clinical laboratories, says that the factors supporting this approach include the growing role that such tests play in clinical decision making, especially in the area of new advanced diagnostics that derive from the mapping of the human genome and help fulfill the promise of personalized medicine.

17 Jul 2010

Bioethics through the lens of literature

What if I were grown only so that my organs could be harvested, and I had to care for others whose organs are being taken, too, while I wait for my own death? What if doctors cut off a piece of the tumor that killed me and grew it in a lab for the next sixty years? What if scientists discovered a gene that would ensure my happiness no matter what life throws at me?

16 Jul 2010

New research focuses on calcium channels in lysosome membrane

In cells, as in cities, disposing of garbage and recycling anything that can be reused is an essential service. In both city and cell, health problems can arise when the process breaks down.

15 Jul 2010

University of Louisville ophthalmology professor receives $60,000 RPB Special Scholar Award

Qingxian Lu, PhD, assistant professor of ophthalmology and visual sciences at the University of Louisville School of Medicine, has received the $60,000 William and Mary Greve Special Scholar Award from the Research to Prevent Blindness (RPB) organization. The funds will go toward Lu's research in retinitis pigmentosa, a group of genetic disorders that can lead to night blindness, loss of peripheral vision and total blindness.

15 Jul 2010

Research supports population screening for fragile X syndrome in women of reproductive age

There's adequate research data to support population screening of women of childbearing age for fragile X syndrome—the most common inherited cause of cognitive impairment, according to a report in the July issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

14 Jul 2010

SCENESSE reduces, prevents phototoxic reactions experienced by EPP patients in Phase III trial

A new Australian drug has been shown to assist in protecting patients with a rare genetic disorder that makes their skin toxic to light and UV, and previously forced them to live in the shadows.

13 Jul 2010

Researchers discover single genetic mutation that accounts for disease

By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.

13 Jul 2010

Gene mutation that causes auditory neuropathy identified

Researchers have identified a gene mutation that causes a rare form of hearing loss known as auditory neuropathy, according to U-M Medical School scientists.

13 Jul 2010

MagnaCare social networking campaigns raise awareness of personal health, preventive care

MagnaCare, a health plan services company with national reach, today announces that its ongoing social networking campaigns are successfully raising awareness of the importance of personal health improvement and preventive care, emphasizing issues that sometimes fall between the cracks of larger causes, and advancing the MagnaCare commitment to "Care Right Here."

13 Jul 2010

Researchers discover gene mutation that causes auditory neuropathy

Researchers have identified a gene mutation that causes a rare form of hearing loss known as auditory neuropathy, according to U-M Medical School scientists. In the study published online today in the Proceedings of the National Academy of Sciences USA, U-M's Marci Lesperance, M.D., and Margit Burmeister, Ph.D. led a team of researchers who examined the DNA of individuals from the same large family afflicted with the disorder.

13 Jul 2010

Research finding uncovers alternative treatments for people with hereditary colorectal cancer

By solving the three-dimensional structure of a protein involved in repairing DNA errors, a group of McMaster University researchers have revealed new avenues to develop assessment tools and alternative treatments for people living with hereditary colorectal cancers.

9 Jul 2010

Japanese scientists identify long-elusive enzyme necessary for proper regulation of cilia

It's safe to say that cilia, the hairlike appendages jutting out from the smooth surfaces of most mammalian cells, have long been misunderstood - underestimated, even.

8 Jul 2010

Amniocentesis and non-embryonic stem cells among list of "Huge Medical Breakthroughs"

Two key focus areas of Biocell Center, the nation's first amniotic fluid stem cell bank, have been recently mentioned among the most important medical discoveries of the last century. Amniocentesis and non-embryonic stem cells were among the list of "Huge Medical Breakthroughs" presented in an article by Althea Chang on Mainstreet.com, produced by TheStreet.com on June 29, 2010.

8 Jul 2010

New blood test eliminates need for surgical lung biopsy for LAM diagnosis

Researchers at the University of Cincinnati (UC) and Cincinnati Children's Hospital Medical Center have found that a certain blood test can successfully identify lymphangioleiomyomatosis (LAM) in some patients, eliminating the need for surgical lung biopsy to make a diagnosis.

6 Jul 2010

Eli Lilly, Alnara sign definitive merger agreement

Eli Lilly and Company and Alnara Pharmaceuticals, Inc. today announced they have signed a definitive merger agreement whereby Lilly will acquire Alnara, a privately held biotechnology company developing protein therapeutics for the treatment of metabolic diseases. Alnara's lead product in development is liprotamase, a non-porcine pancreatic enzyme replacement therapy (PERT).

2 Jul 2010

Gene diagnosis to be featured at 9th INT'L BIO FORUM & BIO EXPO JAPAN

9th INT'L BIO FORUM & BIO EXPO JAPAN, organized by Reed Exhibitions Japan, will come back again as Asia's largest bio-event from June 30 - July 2, 2010. "Gene diagnosis" is one of the featured topics for this year.

30 Jun 2010

Movable sequences of DNA are more common than previously thought

Researchers at the University of Leicester have demonstrated that movable sequences of DNA, which give rise to genetic variability and sometimes cause specific diseases, are far more common than previously thought.

29 Jun 2010

Pain Therapeutics modifies strategic alliance with King Pharmaceuticals for REMOXY outside U.S.

Pain Therapeutics, Inc. announced today a modification of its strategic alliance with King Pharmaceuticals, Inc. for REMOXY outside the U.S. The move signals a desire to target Europe's small and growing market for strong pain medications.

28 Jun 2010

Helicos BioSciences to develop, market MDx tests that utilize HeliScope Single Molecule Sequencer

Helicos BioSciences Corporation announced today that it is in the early stages of validating molecular diagnostic (MDx) tests that utilize its HeliScope® Single Molecule Sequencer. The HeliScope Sequencer's ability to sequence single molecules of natural, unamplified DNA or RNA simplifies the diagnostic testing workflow obviating the need for the amplification steps utilized by most genetic analysis methods.

28 Jun 2010

Researchers endorse, modify vitamin D theory of autism

A Scientific American article asks, "What if Vitamin D Deficiency is a Cause of Autism?" How could vitamin D deficiency during pregnancy cause autism, a genetic disease? Indeed, five researchers at Harvard, led by Dr. Dennis Kinney, recently endorsed and then modified the vitamin D theory of autism.

24 Jun 2010

Genetic Disorder News and Research

Further Reading

FDA can promote personalized medicine by identying gaps in laboratory operations: ACLA

Bioethics through the lens of literature

New research focuses on calcium channels in lysosome membrane

University of Louisville ophthalmology professor receives $60,000 RPB Special Scholar Award

Research supports population screening for fragile X syndrome in women of reproductive age

SCENESSE reduces, prevents phototoxic reactions experienced by EPP patients in Phase III trial

Researchers discover single genetic mutation that accounts for disease

Gene mutation that causes auditory neuropathy identified

MagnaCare social networking campaigns raise awareness of personal health, preventive care

Researchers discover gene mutation that causes auditory neuropathy

Research finding uncovers alternative treatments for people with hereditary colorectal cancer

Japanese scientists identify long-elusive enzyme necessary for proper regulation of cilia

Amniocentesis and non-embryonic stem cells among list of "Huge Medical Breakthroughs"

New blood test eliminates need for surgical lung biopsy for LAM diagnosis

Eli Lilly, Alnara sign definitive merger agreement

Gene diagnosis to be featured at 9th INT'L BIO FORUM & BIO EXPO JAPAN

Movable sequences of DNA are more common than previously thought

Pain Therapeutics modifies strategic alliance with King Pharmaceuticals for REMOXY outside U.S.

Helicos BioSciences to develop, market MDx tests that utilize HeliScope Single Molecule Sequencer

Researchers endorse, modify vitamin D theory of autism

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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