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.

Researchers identify group of cells in brain that plays important role in Down syndrome

Researchers from UC Davis School of Medicine and Shriners Hospitals for Children - Northern California have identified a group of cells in the brain that they say plays an important role in the abnormal neuron development in Down syndrome.

21 Jul 2014

Scientists reveal structure of protein involved in life and development of cancer

Scientists reveal the structure of one of the most important and complicated proteins in cell division - a fundamental process in life and the development of cancer - in research published in Nature today (Sunday).

21 Jul 2014

Isis earns $1 million payment from GSK related to advancement of ISIS-TTRRx

Isis Pharmaceuticals, Inc. announced today that it has earned a $1 million milestone payment from GlaxoSmithKline (GSK) related to the advancement of the Phase 2/3 study of ISIS-TTRRx in patients with familial amyloid polyneuropathy (FAP).

16 Jul 2014

New hope for patients with tuberous sclerosis complex

Although it is rare, tuberous sclerosis complex (TSC) can be a difficult and frightening diagnosis for parents and children. The genetic disorder causes nonmalignant tumors to form in many different organs, including the brain, eyes, kidneys and heart.

11 Jul 2014

New approach for developing personalized gene therapies to treat retinitis pigmentosa

Columbia University Medical Center researchers have created a way to develop personalized gene therapies for patients with retinitis pigmentosa (RP), a leading cause of vision loss.

11 Jul 2014

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Lysosomes are subcellular organelles that are present in most cells, with the major exception of red blood cells.

8 Jul 2014

Leading hypothesis for miscarriages, birth defects ruled out by WSU reproductive biologists

Washington State University reproductive biologists have ruled out one of the leading thoughts on why older women have an increased risk of miscarriages and children with birth defects.

4 Jul 2014

FDA grants Fast Track designation to Akashi Therapeutics' HT-100 for treatment of DMD

Akashi Therapeutics, Inc., announced today that the U.S. Food and Drug Administration has granted Fast Track designation to the company's most advanced product candidate, HT-100 (delayed-release halofuginone), an orally available, small molecule drug candidate intended to reduce fibrosis and inflammation and promote healthy muscle regeneration in boys with DMD.

3 Jul 2014

New gene therapy for Acute Intermittent Porphyria

Angeles suffers from a severe and rare genetic disease called Acute Intermittent Porphyria (AIP). This means, one of her genes restrains her liver to produce a specific protein needed for the metabolism of the blood. During an AIP attack Angeles usually feels intense abdominal pain, and her mental status changes. Women live at an increased risk to trigger the symptoms, because porphyria is related to the menstrual cycle.

2 Jul 2014

NEI researchers describe functions of gene responsible for anchoring cilia

Researchers at the National Eye Institute (NEI) have described the functions of a gene responsible for anchoring cilia - sensory hair-like extensions present on almost every cell of the body.

2 Jul 2014

UCLA receives $7.2 million grant to develop ways to diagnose rare genetic disorders

The David Geffen School of Medicine at UCLA is one of six institutions nationwide chosen by the National Institutes of Health to join their effort in tackling the most difficult-to-solve medical cases and develop ways to diagnose rare genetic disorders.

1 Jul 2014

MedicAlert Foundation announces free medical IDs for individuals living with Malignant Hyperthermia

MedicAlert Foundation is pleased to announce that individuals living with Malignant Hyperthermia (MH) are now eligible to receive free medical IDs and live 24/7 emergency response services as the result of a grant obtained through the Sandi Ida Glickstein Fund at the Malignant Hyperthermia Association of the United States.

28 Jun 2014

University of Utah researcher to receive Nelson Trust Award for Retinitis Pigmentosa

Research to Prevent Blindness, a New York-based foundation, has announced that University of Utah researcher Wolfgang Baehr, Ph.D., will receive the Nelson Trust Award for Retinitis Pigmentosa-and an accompanying $100,000 to pursue new scientific leads to understand contributors to blindness.

27 Jun 2014

State roundup: Troubles in Kentucky; MD. hospital under review

The team at The Upshot, a Times news and data-analysis venture, compiled six basic metrics to give a picture of the quality and longevity of life in each county of the nation: educational attainment, household income, jobless rate, disability rate, life expectancy and obesity rate.

27 Jun 2014

Cancer drug shows promise in treating blood cell disorders

Scientists working to make gene therapy a reality have solved a major hurdle: how to bypass a blood stem cell's natural defenses and efficiently insert disease-fighting genes into the cell's genome.

27 Jun 2014

House approves trauma care programs, newborn screening changes

The House on Tuesday passed legislation by voice vote to reauthorize trauma care programs. Traumatic injury is the top cause of death for people under age 45, according to the Centers for Disease Control. One of the bills, H.R. 4080, would reauthorize Trauma Care System Planning Grants to boost access to trauma care through fiscal 2019 (Marcos, 6/24).

25 Jun 2014

Computer analysis of family photos could help diagnose rare genetic disorders

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has, say Oxford University researchers.

24 Jun 2014

Investigators discover novel cellular genes by uncovering uncharacterized RNAs that encode proteins

Case Western Reserve School of Medicine scientists have made an extraordinary double discovery. First, they have identified thousands of novel long non-coding ribonucleic acid (lncRNA) transcripts.

23 Jun 2014

Nicox launches expanded access to Sequenom Laboratories' RetnaGene portfolio

Nicox S.A., the international ophthalmic company, and Sequenom, Inc. (NASDAQ: SQNM), a life sciences company providing innovative genetic analysis solutions, today announced that Nicox's subsidiary, Nicox Inc. is launching expanded access to Sequenom Laboratories' RetnaGene™ portfolio of laboratory-developed genetic tests in the United States (U.S.).

19 Jun 2014

Health professionals push officials to slow digital health records

Additionally, venture capitalists pour money into digital health, and more Americans take to the Web and digital devices to store their electronic health data and seek health care support from their peers.

17 Jun 2014

Genetic Disorder News and Research

Further Reading

Researchers identify group of cells in brain that plays important role in Down syndrome

Scientists reveal structure of protein involved in life and development of cancer

Isis earns $1 million payment from GSK related to advancement of ISIS-TTRRx

New hope for patients with tuberous sclerosis complex

New approach for developing personalized gene therapies to treat retinitis pigmentosa

Fabry disease awareness: an interview with Dr. Hartmann Wellhoefer, Head of Medical Affairs, Rare Disease, Shire

Leading hypothesis for miscarriages, birth defects ruled out by WSU reproductive biologists

FDA grants Fast Track designation to Akashi Therapeutics' HT-100 for treatment of DMD

New gene therapy for Acute Intermittent Porphyria

NEI researchers describe functions of gene responsible for anchoring cilia

UCLA receives $7.2 million grant to develop ways to diagnose rare genetic disorders

MedicAlert Foundation announces free medical IDs for individuals living with Malignant Hyperthermia

University of Utah researcher to receive Nelson Trust Award for Retinitis Pigmentosa

State roundup: Troubles in Kentucky; MD. hospital under review

Cancer drug shows promise in treating blood cell disorders

House approves trauma care programs, newborn screening changes

Computer analysis of family photos could help diagnose rare genetic disorders

Investigators discover novel cellular genes by uncovering uncharacterized RNAs that encode proteins

Nicox launches expanded access to Sequenom Laboratories' RetnaGene portfolio

Health professionals push officials to slow digital health records

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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