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ATS releases new clinical policy statement on CCHS

The American Thoracic Society has released a new official clinical policy statement on congenital central hypoventilation syndrome (CCHS), a disorder of respiratory and autonomic nervous system (ANS) regulation. The ANS regulates reflexive acts, including heart rate and blood pressure, digestion, body temperature and pain perception.

15 Mar 2010

New article sheds light on the costs and benefits of screening for SMA

Spinal Muscular Atrophy is one of many serious disorders for which prenatal testing is available. SMA affects approximately 1 in 10,000 live births and is the leading genetic cause of infant mortality and the second most common autosomal recessive disorder, after cystic fibrosis. Although the American College of Medical Genetics recommends carrier testing for all couples, the American College of Obstetricians and Gynecologists has issued a recommendation to the contrary, citing lack of information about the costs and benefits of screening for SMA.

9 Mar 2010

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

The National Ataxia Foundation, in conjunction with the University of Chicago program in pathobiology and translational neuroscience, will hold its third annual Ataxia Investigators Meeting March 9-11, 2010, at the Hyatt Regency O'Hare, in Rosemont, Ill. A three-day meeting for patients, caregivers and families will follow at the same location.

6 Mar 2010

Scientists discover genetic cause of Quebec Platelet Disorder

For some Canadians, any cut such as from dental work or surgery can cause days or more of bleeding. Although they are not hemophiliacs, for some an ordinary bruise can balloon into the size of an orange.

4 Mar 2010

MHAUS introduces new MH Mock Drill Training Kit to better prepare for MH emergencies

The Malignant Hyperthermia Association of the United States introduces a new MH Mock Drill Training Kit for Operating Room Staff to better prepare for MH emergencies

4 Mar 2010

C1-INH replacement therapy effective for treating acute swelling attacks in HAE

C1-esterase inhibitor (C1-INH) concentrate is an effective, well-tolerated therapy that rapidly relieves acute swelling attacks and successive attacks at any body location in patients with hereditary angioedema (HAE), a rare and serious genetic disorder, according to data presented today at the 2010 American Academy of Allergy, Asthma & Immunology (AAAAI) Annual Meeting. Additional pharmacokinetic data presented at the meeting confirms that C1-INH concentrate has a longer half-life than other treatment options for HAE, which protects patients from rebound attacks.

2 Mar 2010

Patients with HAE experience prodromal symptoms before acute HAE attacks: Survey

Patients with hereditary angioedema (HAE) experience prodromal or early warning symptoms before nearly three-quarters of their HAE attacks, according to survey findings presented today at the 2010 American Academy of Allergy, Asthma & Immunology Annual Meeting.

2 Mar 2010

Colonoscopy screening recommended for people with family history of colon cancer

A family history of colon cancer, also known as colorectal cancer or CRC, puts people at higher than average risk for developing the disease.

2 Mar 2010

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

For the second time in as many months the Centre for Addiction and Mental Health has signed a licensing agreement with US-based Athena Diagnostics Inc. to market a new genetic test.

From Thermo Fisher Scientific Inc. 26 Feb 2010

Spinal muscular atrophy screening, not cost effective

In a study to be presented today at the Society for Maternal-Fetal Medicine's (SMFM) annual meeting, The Pregnancy Meeting -, in Chicago, researchers will unveil findings that show that it is not cost effective to screen for spinal muscular atrophy.

5 Feb 2010

UCSB research: Rapamycin drug, a potential treatment for ADPKD

Research performed at UC Santa Barbara points to the drug rapamycin as a potential treatment for kidney disease. The study builds on past research and shows that studies performed on mice are more likely to translate to humans than previously thought.

27 Jan 2010

CLSI’s document provides revised guidelines for screening cystic fibrosis

Clinical and Laboratory Standards Institute (CLSI) recently published Sweat Testing: Sample Collection and Quantitative Chloride Analysis; Approved Guideline—Third Edition (C34-A3). This document addresses appropriate methods of collection and analysis, quality control, and the evaluation and reporting of sweat test results for the diagnosis of cystic fibrosis.

7 Jan 2010

Physicians need to utilize best practices to treat HAE patients in emergency settings

Hereditary Angioedema (HAE) is an autosomal dominant disease causing acute attacks of intense edema. These attacks can result in life-threatening complications, including asphyxiation.

16 Dec 2009

FDA approves Berinert for treating HAE in adults and adolescents

Berinert®, a human C1 esterase inhibitor (C1-INH) for treating acute episodes of facial or abdominal hereditary angioedema (HAE) in adults and adolescents has obtained approval from the US Food and Drug Administration (FDA).

25 Nov 2009

Diagnosing patients with syndrome similar to neurofibromatosis type 1 may be difficult

An analysis of patients with a syndrome similar to the genetic disorder, neurofibromatosis type 1, indicates that diagnosis may be difficult because of shared clinical findings, such as certain pigmentary characteristics, according to a study in the November 18 issue of JAMA.

19 Nov 2009

C1-INH concentrate, an effective therapy to treat acute swelling attacks for HAE

Patients reported C1-esterase inhibitor (C1-INH) concentrate is an effective therapy in treating acute swelling attacks at any body location for HAE, a rare and serious genetic disorder, according to data presented today at the 2009 American College of Allergy, Asthma & Immunology (ACAAI) Annual Meeting.

9 Nov 2009

New molecular pathway for preventing potassium from being excreted normally through kidney identified

Researchers at the University of Maryland School of Medicine have made an important discovery about why potassium builds up to dangerous levels in the bloodstream, a relatively common medical problem that affects about eight percent of hospitalized patients.

4 Nov 2009

$3.9 million Challenge grant for Thomas Jefferson researchers

Four researchers from Thomas Jefferson University have received $3.9 million in Challenge grant funds as part of the American Recovery and Reinvestment Act.

3 Nov 2009

Brain disorder that causes early dementia is highly hereditary: Study

New research shows that a rare brain disorder that causes early dementia is highly hereditary. The study is published in the November 3, 2009, issue of Neurology®, the medical journal of the American Academy of Neurology.

3 Nov 2009

DKC establishes link between genetic mutation affecting telomerase function and human disease

The human genetic disease dyskeratosis congenita (DKC) is an autosomal dominant disease that leads to abnormalities in tissues with a rapid cell turnover - the skin, nails, bone marrow, lungs and gut. Patients with DKC experience life-threatening symptoms. Bone marrow failure increases their risk of fatal infections and cancer. Many die before the age of 30 and management of the disease is limited to trying to treat its symptoms.

19 Oct 2009

Autosomal News and Research

ATS releases new clinical policy statement on CCHS

New article sheds light on the costs and benefits of screening for SMA

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

Scientists discover genetic cause of Quebec Platelet Disorder

MHAUS introduces new MH Mock Drill Training Kit to better prepare for MH emergencies

C1-INH replacement therapy effective for treating acute swelling attacks in HAE

Patients with HAE experience prodromal symptoms before acute HAE attacks: Survey

Colonoscopy screening recommended for people with family history of colon cancer

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

Spinal muscular atrophy screening, not cost effective

UCSB research: Rapamycin drug, a potential treatment for ADPKD

CLSI’s document provides revised guidelines for screening cystic fibrosis

Physicians need to utilize best practices to treat HAE patients in emergency settings

FDA approves Berinert for treating HAE in adults and adolescents

Diagnosing patients with syndrome similar to neurofibromatosis type 1 may be difficult

C1-INH concentrate, an effective therapy to treat acute swelling attacks for HAE

New molecular pathway for preventing potassium from being excreted normally through kidney identified

$3.9 million Challenge grant for Thomas Jefferson researchers

Brain disorder that causes early dementia is highly hereditary: Study

DKC establishes link between genetic mutation affecting telomerase function and human disease

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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