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Inherited in Medical News

'Personalized' genome sequencing reveals coding error in gene for inherited pancreatic cancer

Scientists at the Sol Goldman Pancreatic Cancer Research Center at the Johns Hopkins Kimmel Cancer Center have used "personalized genome" sequencing on an individual with a hereditary form of pancreatic cancer to locate a mutation in a gene called PALB2 that is responsible for initiating the disea...

Gene Mutation Linked to Inherited ALS

Discovery might one day lead to additional treatments, experts say THURSDAY, Feb. 26 (HealthDay News) -- A new gene has been identified as playing a role in the inherited form of amyotrophic lateral sclerosis, or ALS, say researchers at the University of Massachusetts Medical School a...

Gene Mutation Tied to Inherited Fatal Lung Disease

Those with variant had cancer as well as idiopathic pulmonary fibrosis, study finds TUESDAY, Dec. 30 (HealthDay News) -- A mutation in a gene previously found to help protect the lungs against toxins may also be linked to lung cancer and some inherited cases of a lethal lung disease a...

Turning back the Clock in Inherited Anemias

Reawakening a dormant gene could ease sickle-cell disease and thalassemia (Vocus) December 4, 2008 -- Researchers at Children's Hospital Boston ( www.childrenshospital.org ) and Dana-Farber Cancer Institute have identified a way to get red blood cells to produce a form ...

New findings may improve treatment of inherited breast cancer

Scientists have identified some of the elusive downstream molecules that play a critical role in the development and progression of familial breast cancer. The research, published by Cell Press in the October 10th issue of the journal Molecular Cell, also identifies a compound found in grapes an...

Gene Mutation Tied to Inherited Atrial Fibrillation

Defective hormone may point to new targets for treatment, study says WEDNESDAY, July 9 (HealthDay News) -- A gene mutation linked to one family's hereditary form of atrial fibrillation may help researchers find better ways to predict, prevent and treat the heart rhythm problem, accordi...

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Inherited in Medical Technology

Mayo Clinic Study Finds Earliest Evidence of Memory Decline in Middle-Aged People at Genetic Risk for Alzheimer's Disease

...imately one out of four people have one copy of the APOE e4 gene, which was inherited from one parent, and about 2 percent have two copies, which were inherited from both parents. "We found that memory declines begin to differe...

Fruitfly Model of a Neuropathic Disease Demonstrates Novel Role for Proteins in the Family of aTyr Pharma's Product Class

...fessor Paul Schimmel of The Scripps Research Institute describes the significance of the work. "Charcot-Marie-Tooth (CMT) is one of the most common inherited neurological disorders, with typical symptoms usually emerging in early adulthood, including loss of muscle mass, pain and sensitivity, foot deformati...

More Gene Mutations Linked to Autism Risk

... --Combination of inherited and New Genetic Mutations Acting Together-- PHILADELPHIA, June 26 /PRN... contribute to an autism spectrum disorder. "We are finding that both inherited and new, or de novo , genetic mutations are scattered throughout the genom...

ADHD Genes Found; Known to Play Roles in Neurodevelopment

..., Ph.D., a co-leader of this study. The study team found a similar quantity of CNVs in both groups. However, distinct patterns emerged. Among 222 inherited CNVs found in ADHD families but not in healthy subjects, a significant number were in genes previously identified in other neurodevelopmental disorder...

Gene Findings Unlocking Reasons for Neuroblastoma Risk

...rly childhood development. Maris's second study, spearheaded by Dr. Sharon Diskin, also of The Children's Hospital of Philadelphia, found that an inherited CNV located at chromosome 1q21.1 is associated with neuroblastoma. The chromosome region contains a large family of genes that are involved in the dev...

Amicus Therapeutics Commences Phase 3 Trial Evaluating Amigal(TM) for the Treatment of Fabry Disease

...rstitial capillary cells from kidney biopsies and in urine. About Fabry Disease Fabry disease is a lysosomal storage disorder caused by inherited genetic mutations in the GLA gene, which result in deficient activity of the enzyme alpha-galactosidase A (a-Gal A). Deficient a-Gal A activity lead...
Inherited in Medical Products

Thrombotic Risk, Inherited Etiologies (Uncommon)

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

Thrombotic Risk, Inherited Etiologies (Most Common) with Reflex to Factor V Leiden

Description: ARUP Laboratories is a national reference laboratory and a worldwide leader in innovative laboratory research and development. ARUP offers an extensive test menu of highly complex and unique medical tests in clinical and anatomic pathology. Owned by the University of Utah, ARUP Laboratories' client...
Company:ARUP Laboratories

SSD-900 Ultrasound Console

Description:... Innovative Image Quality in a Compact Size Featuring design concepts inherited from our higher end systems along with Alokas latest proprietary electronic technologies, the compact SSD-900 delivers superb images. Traditiona...
Company:ALOKA, Inc.

Testosterone RIA Test

Description:...esistance syndroms: 5alpha-reductase deficiency, testicular feminization, and related syndromes. IN: Scriver CR, et al. (eds.): The Metabolic Basis of inherited Disease, 6th ed. McGraw-Hill, New York, 1989, pp. 1919-1944 Wilson JD. Endocrin Rev 9:181-199,1988. Holland FJ. Endocrinol Metab Clin North Am 64:...
Company:Diagnostic Systems Laboratories, Inc.

Coatest APC Resistance V Kit

Description:...ensitivity for FV:Q506. Reduces need for PCR determination. Applicable to anticoagulant treated patients. Coatest APC Resistance V exclusively detects inherited APC resistance due to mutations in the factor V gene....
Company:DiaPharma Group, Inc.

Coatest APC Resistance Kit

Description:...ion in vivo and provides information on the thrombotic risk associated with inherited and acquired APC resistance. Detects the APC resistance phenotype regardless of its cause. Detects both inherited and acquired APC resistance....
Company:DiaPharma Group, Inc.
Inherited in Medical Definition

Atransferrinemia

...t failure, arthropathy and hypothyroidism . Death may occur due to heart failure or pneumonia . Genetics This condition is inherited in an autosomal recessive pattern, meaning two copies of the gene in each cell are altered. A case study was done in 1961 on a 7-year-old ...

Pathology

...d or exacerbated by a variety of external and internal influences, including trauma , infection , poisoning , loss of blood flow , autoimmunity , inherited or acquired genetic damage , or errors of development . One common theme in pathology is the way in which the body's responses to injury, while evol...

Personalized medicine

...sonalized medicine and cancer Cancer genetics is a subspecialized field of genetics. This field initially dealt with the relatively small amount 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...
Inherited in Medical Dictionary

Colorectal polyps

... is a growth that sticks out of the lining of the colon or rectum. ... single or many polyps , and they become ... 1 Colorectal polyp . 1.1 inherited polyposis syndromes. 1.2 Non-inherited polyposis syndromes ... Main article: Colorectal polyp . Colon polyps are uncommonly ... ...

Xeroderma Pigmentosum

...he Office of Rare ... Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders ... The earliest signs of xeroderma pigmentosum (XP) i...ources on Xeroderma pigmentosum Xeroderma pigmentosum is a rare inherited genetic disease. ... Xeroderma (dry, scaly skin) and pigmentosum (fre...

Wilson disease

...tabolism disorder. ... Wilson's disease is an inherited disorder ... Wilson's disease — Comprehens... Disease Definition Wilson disease is a rare, inherited Wilson's disease information sheet compile...rg and www. ... Wilson's disease is a rare inherited metabolic disease that leads to copper ... Bull ...

Waardenburg syndrome

... syndrome ... Waardenburg syndrome (WS) is an inherited disorder often characterized by ... Publications" ...gmentation Waardenburg syndrome (WS) is an inherited disorder often characterized by ... observed chara... and treatment. ... Waardenburg syndrome is an inherited genetic disorder which may cause hearing ... ...

Usher Syndrome

...s ... Publication about Usher syndrome , an inherited condition that causes a serious hearing loss ......me (all types) ... Usher's syndrome n. An inherited syndrome characterized by sensorineural deafnes...spects for gene ... Usher syndrome is an inherited condition that causes a serious hearing loss tha...

Urogenital

... The development of urogenital adysplasia syndrome resulted from the combined ... Urogenital adysplasia syndrome is an autosomal dominant inherited condition. ... ... cloaca is partitioned into the urogenital sinus anteriorly, and the rectum posteriorly. ... The urogenital sinus has ...
Inherited in Biological News

UT Southwestern researchers identify gene linked to inherited form of fatal lung disease

DALLAS Dec. 19, 2008 Researchers at UT Southwestern Medical Center have determined that a mutation in a gene known for its role in defending the lungs against invading pathogens is responsible for some inherited cases of a lethal lung disease affecting older adults. The same mutation may also be...

Researchers compile 'molecular manual' for 100s of inherited diseases

An international research team has compiled the first catalogue of tissue-specific pathologies underlying hundreds of inherited diseases. These results provide information that may help treat conditions such as breast cancer, Parkinson's disease, heart disease and autism. The report from scientis...

Sibling study could lead to better treatments for inherited form of colon cancer

SALT LAKE CITYResearchers at Huntsman Cancer Institute (HCI) believe they may be one step closer to understanding how certain forms of colon cancer develop. In a study using siblings who have been diagnosed with colon cancer, scientists discovered similarities on a region of a particular chromo...

Multi-institutional study identifies new form of inherited risk of cancer

NEW YORK (March 25, 2008) -- Like the subtext of a novel, the human genome sequence harbors more information than appears just in its "letters" of A, C, T and G. Since DNA is a data-packed molecule passed from generation to generation, comparing genome sequences among individuals also holds clues ...

Mutation may cause inherited neuropathy

Mutations in a protein called dynein, required for the proper functioning of sensory nerve cells, can cause defects in mice that may provide crucial clues leading to better treatments for a human nerve disorder known as peripheral neuropathy, which affects about three percent of all those over age...

CU-Boulder worm study sheds light on human aging, inherited diseases

Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boul...

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Inherited in Biological Technology

Repligen Reports First Quarter Fiscal Year 2010 Financial Results

... HDAC Inhibitors for Friedreich's Ataxia We are currently developing inhibitors of histone deacetylase enzymes (HDACs) for the treatment of inherited neurodegenerative diseases such as Friedreich's ataxia. Preclinical studies have shown that specific HDAC inhibitors increase production of the prote...

Inspiration Biopharmaceuticals Presents Safety Data on IB1001, a Novel Recombinant Factor IX for the Treatment of Hemophilia at the International Society on Thrombosis and Haemostasis (ISTH) Annual Meeting

...ant protein manufacturing technology, which significantly increases cell-line productivity. About Hemophilia Hemophilia is a lifelong, inherited bleeding disorder caused by low levels or absence of a protein called a clotting factor, essential for blood clotting. This inability to clot results...

Novel gene found for dilated cardiomyopathy

...y Towbin, M.D., co-director of the Heart Institute and director of cardiology at Cincinnati Children's. "This clarifies the mechanisms by which these inherited mutations cause disease in a subset of DCM patients." DCM is a condition in which the heart becomes weakened and enlarged and cannot pump blood effic...

New MRI technique could mean fewer breast biopsies in high-risk women

... classifying a lesion as malignant or benign. The American Cancer Society recommends that women with certain breast cancer risk factors including inherited genetic mutations, family or personal history of breast cancer, or previous radiation therapy to the chest receive an annual MRI screening in additio...

It's Not Just the Sun: deCODE Discovers Sequence Variants Affecting Susceptibility to Skin Cancer

...abetes. deCODE used its population genetics resources in Iceland to demonstrate that a third risk variant, on chromosome 7q32, confers greater risk if inherited from the father than from the mother. "It is important to find genetic causes of BCC that do not appear to be modulated directly by sensitivity t...

Repligen Reports Fourth Quarter and Fiscal Year 2009 Financial Results

...bitors for Friedreich's Ataxia and Huntington's Disease We are currently developing inhibitors of histone deacetylases (HDACs) for the treatment of inherited neurodegenerative diseases such as Friedreich's ataxia and Huntington's disease. Preclinical studies have shown that HDAC inhibitors have the potenti...
Inherited in Biological Products

Mouse Anti-Bovine Complex V (F1F0 ATP Synthase) Heart Mitochondria Monoclonal Antibody, Unconjugated, Clone 12F4AD8AF8 from MitoScience LLC

Description:... these modifications. Potential uses for the Complex V immunocapture kit include but are not limited to examining alterations of Complex V subunits in inherited mitochondrial diseases, Alzheimers disease, angiogenesis, hypertension and aging....
Company:MitoScience LLC

Mouse Anti-Presenilin 2 Monoclonal Antibody, Unconjugated, Clone APS 26 from GeneTex

Description:... Mouse monoclonal [APS 26] to Presenilin 2 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations r...
Company:GeneTex

Mouse Anti-Presenilin 2 Monoclonal Antibody, Unconjugated, Clone 198C679.2.1 from GeneTex

Description:... Mouse monoclonal [198C679.2.1] to Presenilin 2 Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations r...
Company:GeneTex
Inherited in Biological Definition

Albinism

... Albinism is a genetic condition resulting in a lack of pigmentation in the eyes, skin and hair. It is an inherited condition arising from the combination of recessive genes passed from both parents of an individual. A variety of problems with photosensitivity in ...

Barr body

...chromosome, spreading out from the Xic. In non-random inactivation this choice appears to be fixed and current evidence suggests that the maternally inherited gene may be imprinted . It is thought that this constitutes the mechanism of choice, and allows downstream processes to establish the compact stat...

Blood

...usions . Vampire legends Vampires are fictional beings thought to cheat death by drinking the blood of the living. Porphyrias , a group of inherited or acquired disorders , may have been the source of vampire legends. See also Artificial blood List of human blood components Blo...

Cancer

...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 consistent finding, over decades of r...

Chromosome

...osis, the matching chromosomes of father and mother can exchange small parts of themselves ( crossover ), and thus create new chromosomes that are not inherited solely from either parent. When a male and a female gamete merge ( fertilization ), a new diploid organism is formed. Figure 3 : Karyog...

Diabetes mellitus

...lf" identifiers used by the immune system). However, even in those who have inherited the susceptibility, type 1 diabetes mellitus seems to require an environmen...es and myopathies, myotonic dystrophy , Friedreich's ataxia , some of the inherited forms of neonatal hyperinsulinism and many others. Risk of diabetes is hig...
Inherited in Biological Dictionary

Xeroderma pigmentosum

... Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders ... The earliest signs of xeroderm... Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders ... Xeroderma pigmentosum affec...hing is ... Xeroderma pigmentosum is a rare inherited genetic disease. ... Xeroderma (dry, scaly skin)...

Vestigial organ

...vestigial organs . ... c Indeed, the absence of true vestigial organs implies evolution never happened. ... Vestigial organs ( organs inherited from ancient ancestors, but no longer ... Scadding, S. R., "Do Vestigial Organs ' Provide Evidence for Evolution? ... Darwin ... Vestigial Or...

Urea cycle

...... Hereditary urea cycle abnormality is an inherited condition that can cause ... Most patients with u...he chief nitrogenous waste of mammals. ... several inherited diseases of the urea cycle caused by mutations...er (UCD) ... A urea cycle disorder (UCD) is an inherited disease caused by ... The Urea Cycle Disord...

Trisomy

... ... The term " trisomy " is used to describe the presence of three chromosomes, rather ... This is the only form of trisomy 18 or 13 that can be inherited in a family. ... Trisomy 13 - photos, videos, support, resources and links ... LIVING WITH TRISOMY 13. Prenatal Diagnosis Family Albums. Treasu...

Thalassemia

... Thalassemia is an inherited autosomal recessive blood disease. In thalassem...of the... Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders. ... The two major types of thala...mia Definition Thalassemia describes a group of inherited Thalassemia is a common ... What research on ...

Synapomorphy

...y is a derived character state shared by two or more terminal groups and inherited from their most recent common ancestor. synapomorphy ( si′napə′mörfē ).... ... In this code, a synapomorphy is a shared, derived character state inherited from ... Encyclopedia information on Synapomorphy ... Limitations of R...
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