Familial

Second gene linked to familial testicular cancer

Specific variations or mutations in a particular can gene raise a man's risk of familial, or inherited, testicular germ-cell cancer, the most common form of this disease, according to new research by scientists at the National Institutes of Health. This is only the second gene to be identified th...

The structural basis of familial hypertrophic cardiomyopathy is revealed

Familial Hypertrophic Cardiomyopathy (FHC), the leading cause of sudden death in athletes and young people, is a genetic disorder of the heart that is characterized by an increased thickness in tissue of the left ventricle. FHC is thought to be caused by a mutation in the myosin heavy chain, one ...

Team Discovers a Gene That Causes Familial Pancreatic Cancer

An international group of researchers has discovered that the mutated form of a gene called Palladin causes familial pancreatic cancer. The findings may help explain why the// disease is so deadly. The research project was led by Dr. Teri Brentnall, University of Washington associate professor of m...

Women Testing Negative for Familial Breast Cancer Gene Still at Increased Risk

Women testing negative for the two inherited breast cancer genes are still at increased risk of developing the disease, suggests research published// ahead of print in the Journal of Medical Genetics. They should be regularly screened from 35 or 40 onwards, say the authors. The research...

Tobacco Found To Trigger Familial Pancreatic Cancer

Tobacco may trigger early onset of pancreatic cancer in those with a genetic predisposition to the disease, according to a new study.// Pancreatic cancer is rare and has a 4-percent five-year survival rate. Only a small percentage of patients have the familial form. Researchers studied 826 patie...

Obsessive-Compulsive Disorder Is Familial

Obsessive-compulsive disorder has a tendency to affect many members of a single family. The disease causes severe anxiety// and disturbing thoughts, which are dealt with by patients by repeating certain behaviors. It is estimated that close relatives of OCD sufferers are nine times more likely to...

Familial in Medical Technology

Colesevelam HCl Lowered LDL Cholesterol in Pediatric Patients With Heterozygous Familial Hypercholesterolemia

First Presentation of Pivotal Study Data in Pediatric Patients Presented at the American Heart Association's Annual Scientific Sessions 2008 PARSIPPANY, N.J., Nov. 11 /PRNewswire-FirstCall/ -- Daiichi Sankyo, Inc. (DSI), announced today that results from the pivotal study supporting the use ...

Isis Pharmaceuticals Reports Positive Phase 2 Data for ISIS 301012 in Familial Hypercholesterolemia Patients Presented at ACC

* Homozygous FH patients already being treated with maximally tolerated lipid-lowering therapies experienced 50% further reductions in LDL-C with similar reductions in other atherogenic when treated with 300 mg/week ISIS 301012 NEW ORLEANS, and CARLSBAD, Calif., March 26, 2007 /PRNewswire-FirstCal...

Isis Pharmaceuticals Updates Its Positive Phase 2 Data for ISIS 301012 in Familial Hypercholesterolemia Patients

* Treatment with ISIS 301012 produced at least 45% additional reduction in patients' LDL-cholesterol when added to maximally-tolerated lipid-lowering therapies CARLSBAD, Calif., May 17, 2007 /PRNewswire-FirstCall/ -- Isis Pharmaceuticals, Inc. announced updated results from its ongoing Phase 2 cli...

Isis Reports Strong Financial Results and Highlights for Second Quarter of 2009

...hall, COO and CFO of Isis. Upcoming Key Milestones Report full data from a Phase 3 study evaluating mipomersen in homozygous familial Hypercholesterolemia (FH) patients; positive top line data was reported in May 2009 Report data from additional mipomersen studies in other pati...

Gene Findings Unlocking Reasons for Neuroblastoma Risk

...ause it is associated with the gene BRCA1 , which was the first discovered familial breast cancer gene. "Researchers have suspected that variants in BARD1 al...ntifying the ALK gene as the major gene predisposing patients to the rare familial form of neuroblastoma, and the other identifying a region of chromosome 6 t...

FDA Approves ADCIRCA(TM) (Tadalafil) Tablets for the Treatment of Pulmonary Arterial Hypertension

...mprove exercise ability in WHO Group I PAH patients, which encompasses patients with multiple forms of PAH including etiologies such as idiopathic and familial PAH as well as PAH associated with scleroderma and congenital heart disease. "Today, thanks to the clinical development efforts led by Eli Lil...

Familial in Medical Definition

Familial isolated vitamin e deficiency

...sage. This article has been tagged since November 2006 . Editing familial isolated vitamin E deficiency Classification & external resources ... xxx OMIM 277460 600415 DiseasesDB 30633 familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerat...

Pathology

...d Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin ...er Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis ( familial Mediterranean fever ) - Acatalasia v • d • e ...

Personalized medicine

...nt of inherited cancers. This amounted to about 5-10% of all cancers as estimated bt the National Institutes of Health . Individuals diagnosed with familial breast, ovarian, colon cancer had been counseled in the past that they would receive standardized treatments and had limited options before their "con...

Proteopathy

... Proteins with tandem glutamine expansions familial British dementia ABri familial Danish dementia ADan familial encephalopathy with neuroserpin inclusion bodies (...

Familial in Medical Dictionary

Von Hippel-lindau Disease

...ers and ... Article: Intraductal US in von Hippel - Lindau disease . ... Provides information about von Hippel - Lindau Disease , a rare familial cancer. Von Hippel - Lindau syndrome can be divided into two major types ... von Hippel - Lindau Disease . See How are genetic condit...

Von Hippel-Lindau

...) is a hereditary condition that involves cancer and can affect people of all Provides information about von Hippel - Lindau Disease, a rare familial cancer. ... von hippel lindau disease. ... Von Hippel - Lindau , abbreviated VHL, is a genetic ... Von Hippel - Lindau is a genetic...

Tuberous sclerosis

...o articles about the disease, its symptoms, treatment options, and related issues. tuberous sclerosis ( ′tübərəs sklə′rōsəs ) ( medicine ) A familial neurocutaneous syndrome characterized in its complete form by epilepsy, adenoma Describes the rare, genetic disorder that causes growths in th...

Testicular feminization

...zāshən ) ( medicine ) A hereditary disorder in which affected individuals are chromosomally XY testicular feminization syndrome n. A type of familial male pseudohermaphroditism characterized by female external genitalia , an incompletely Testicular feminization is a genetic disorder pres...

Testicular Cancer

...ancer ? Testicular cancer happens when abnormal cells in the testicles (testes) begin to grow in an uncontrolled manner. Second Gene Linked to familial Testicular Cancer (06/29/2009, National Institute ... Questions for Your Doctor: Your First Visit( Testicular Cancer Resource Center) ... Mo...

Short stature

...s and Symptoms) ... Short stature in children, with a discussion of familial and constitutional delay, growth hormone defiency, tests and treatments. ...able medical condition, then the ... If the short stature appears to be familial in nature or merely delayed, no ... Short stature - WakeMed Health ...

Familial in Biological News

Genetic mutation causes familial susceptibility for degenerative brain disease

CINCINNATI Mutation of a gene that helps proteins migrate in and out of the cell's genetic command center the nucleus puts some families at higher risk for the degenerative brain disease acute necrotizing encephalopathy (ANE). This is the conclusion of a global study to be published Jan. 9 b...

Women often opt to surgically remove their breasts, ovaries to reduce cancer risk

...c counseling, testing and management program," said Claudine Isaacs, M.D., an associate professor of medicine and co-director of the Fisher Center for familial Cancer Research, Lombardi Comprehensive Cancer Center at Georgetown University. BRCA1 and BRCA2 mutation carriers have a very high lifetime risk of...

Stem cell 'daughters' lead to breast cancer

...genitors, rather than breast stem cells." Dr Lindeman, who also heads the familial Cancer Centre at the Royal Melbourne Hospital, said that now the importance...cilitated by the Kathleen Cuningham Foundation Consortium for Research into familial Breast Cancer. ...

Scientists discover gene mutation responsible for hereditary neuroendocrine tumor

...cent of paragangliomas are hereditary. Of the four familial PGL syndromes, three forms have previously been as... potential clinical implications for patients with familial PGL syndromes. Genetic testing is suggested for th...t risk for developing tumors. "Individuals with familial PGLs tend to be affected at a younger age with tum...

Researchers gain insight into mechanism underlying Huntington's

...what manner they occur," Li said. "How these genetic changes escape normal DNA repair systems and become ingrained in an affected gene pool leading to familial disorders has been a longstanding subject of study in my laboratory at the UK Medical Center." The expansion of TNRs at unique sites in the human ge...

First comprehensive guidelines for managing medullary thyroid carcinoma published in Thyroid journal

...y members." MTC is a complex disease that accounts for about 4% of all thyroid cancer cases in the United States. Nearly 25% of cases worldwide are familial and present as an autosomal inherited disorder. In individuals with the inherited form of MTC, a preneoplastic lesion called C-cell hyperplasia will f...

Familial in Biological Technology

Axial Biotech Enters Partnership with the University of Utah to Utilize the Utah Population Database to Develop Personalized Diagnostic Tests for Spine Disorders

...n records that provides a rich source of information for genetic, epidemiological, demographic and public health studies which can be used to identify familial clusters of disease including spinal disorders. The UPDB combined with Axial's proprietary GenDB Genealogical Database will help Axial researchers exp...

Novel drug discovery tool could identify promising new therapies for Parkinson's disease

...ells in patients with Parkinson's disease accumulate a protein called alpha-synuclein. Moreover, genetic abnormalities in alpha-synuclein cause a rare familial form of the disease. Dr. Lindquist and her team previously showed that when yeast cells are engineered to produce large amounts of human alpha-synucle...

Matrix Genomics, Elizabeth Corder, PhD - Gene Variation in the LRRK2 Gene and High Risk for Parkinson's Disease

...se 2 (LRRK2) , which encodes a protein called dardarin, derived from the Basque word dardara, meaning tremor. Mutations in LRRK2 are a common cause of familial Parkinson's disease. This study published in the Annals of Human Genetics describes a combination of four gene variants found in a third of Pa...

Stem Cell Sciences Enters into Services Agreement with Huntingdon's Disease Research Group, CHDI Foundation Inc.

...SA. For further information on the company please visit: http://www.stemcellsciences.com . About Huntington's Disease Huntington's disease is a familial disease caused by a mutation in the huntingtin gene. Each child of a parent with a mutation in the huntingtin gene has a 50-50 chance of inheriting th...

Isis Reports Financial Results and Highlights for Third Quarter of 2008

...ble patients and high-risk high cholesterol patients -- Report top line data on mipomersen from a Phase 2 liver imaging study in heterozygous familial Hypercholesterolemia (FH) patients -- Provide an update on mipomersen from an ongoing open-label extension study in patients with FH -- Report P...

Two Luminaries Join Cequent Scientific Advisory Board: Judy Lieberman, M.D. Ph.D., and Patrice Courvalin, M.D.

...d experience in their respective areas of research so fundamental to our success. We continue to make great progress with our development programs for familial polyposis, human papilloma virus, and inflammatory bowel disease, and their input will be paramount as we advance our pipeline of RNAi drug candidates...

Familial in Biological Definition

Cancer

...rcoma , breast cancer, soft-tissue sarcoma , brain tumors ) due to mutations of p53 Turcot syndrome ( brain tumors and colonic polyposis) familial adenomatous polyposis an inherited mutation of the APC gene that leads to early onset of colon carcinoma . Environment and diet The most c...

Colchicine

...ity, leading to a net anti-inflammatory effect. Colchicine as medicine Colchicine is FDA -approved for the treatment of gout and also for familial Mediterranean fever , amyloidosis , and scleroderma . Side-effects include gastro-intestinal upset and neutropenia . Starting the drug early during...

FAD

...y requiring processes. FAD, and the more common NAD , are reduced in the citric acid cycle during aerobic respiration . FAD also stands for familial Alzheimer disease ...

Prion

...b disease (vCJD, nvCJD) Humans BSE prion* BovPrP Sc * Gerstmann-Strussler-Scheinker syndrome (GSS) Humans GSS prion HuPrP Sc Fatal familial insomnia (FFI) Humans FFI prion HuPrP Sc * or variant Fungal prion Protein Natural host Prion name Ure2p Sacc...

Familial in Biological Dictionary

Familial

Familial atrial fibrillation is an autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to... Family. From ...

Transposon mapping

...ing . Full article > ... Novel microarray-based transposon mapping technology and data ... Transposon mapping for identifying causes of familial cancer susceptibility syndromes. ... TRAMP is a software package for generating transposon maps that are used for DNA sequencing. ... Chro...

Right atrium

... online English ... right atrium - the right upper chamber of the ... atrium dextrum, right atrium of the heart ... Right atrium familial dilatation information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis. ...

Penetrance

...vironmental conditions, with which a specific phenotype is expressed by those individuals with a specific Reduced penetrance often occurs with familial cancer syndromes. ... As with reduced penetrance , variable expressivity is probably caused by a ... Complete" penetrance means the gene ...

Monogenic

...tionary definitions of popular ... Monogenic Disorders Associated With Spontaneous Pneumothorax: A significant number of families who experience familial spontaneous pneumothorax have mutations in the ... Pronunciation of monogenic . monogenic synonyms. monogenic usage examples and monogenic ...

Lipase

...s methods, concepts, pros, cons-more at Sensational.com. Lipase is a protein (enzyme) released by the pancreas into the small intestines. ... familial lipoprotein lipase deficiency. Risks Return to top ... Get accurate information from Skinny On Diets about Lipase & other diet programs for...