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Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

Donna McDonald-McGinn, M.S., CGC, associate director of Clinical Genetics and program director of the "22q and You" Center at The Children's Hospital of Philadelphia, received the Angelo DiGeorge Medal of Honor on July 6 at the 8th Biennial International 22q11.2 DS Conference in Lake Buena Vista, Florida. Ms. McDonald-McGinn, who began her career at CHOP in 1985, is the second person to receive this highly esteemed honor.

6 Aug 2012

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Individuals with mutations in BRCA1 and BRCA2 genes have a significantly higher risk of developing breast and ovarian cancers. Families at risk have been seeking genetic testing and counseling based on their mutation carrier status, but the standard method of direct sequencing is labor-intensive, costly, and it only targets a part of the BRCA1 and BRCA2 genes.

6 Aug 2012

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways report researchers in The EMBO Journal. The two disorders share disturbances in the molecular events that regulate the way nerve cells develop dendritic spines, the small extensions found on the surface of nerve cells that are crucial for communication in the brain.

3 Aug 2012

DNA inherited from mother can speed up male ageing

Women outlive men by about five to six years but why? By age 85 there are roughly six women to every four men and by age 100 the ratio is more than two to one.

3 Aug 2012

Planarian flatworms now a model system for studying eye development and eye diseases

Planarian flatworms have come under intense study for their renowned ability to regenerate any missing body part, even as adults. But now they may take on a starring role as a model system for studying eye development and eye diseases in vertebrates, including humans.

3 Aug 2012

Sta Op Tegen Kanker International Translational Cancer Research Grant recipients announced

Stand Up To Cancer (SU2C) and the Dutch Cancer Society (KWF Kankerbestrijding), along with the American Association for Cancer Research (AACR), SU2C's Scientific Partner, announce the recipients of the Sta Op Tegen Kanker International Translational Cancer Research Grant.

3 Aug 2012

Depression in kidney cancer patients associated with survival and inflammatory gene regulation

Research from The University of Texas MD Anderson Cancer Center has found that symptoms of depression in patients with newly diagnosed metastatic kidney cancer are associated with survival and inflammatory gene regulation may explain this link.

3 Aug 2012

Researchers identify how telomerase is recruited to chromosome ends

Stem cells are special. Nestled in muscle and skin, organ and bone, they bide their time over years or decades until called to replace damaged or lost tissue. One secret to their longevity is an enzyme called telomerase, which stills the relentless ticking of the molecular clock that limits the life span of other cells.

3 Aug 2012

Researchers discover surprising and unexpected plasticity in the embryonic endothelium

UCLA stem cell researchers have found for the first time a surprising and unexpected plasticity in the embryonic endothelium, the place where blood stem cells are made in early development.

3 Aug 2012

Researchers uncover 9 new genes associated with bone health

Researchers have uncovered 9 new genes associated with bone health. This collaborative study found clues to the cause of bone disorders such as osteoporosis, osteogenesis imperfecta, and high bone density syndromes by investigating the bone mineral content, strength and flexibility.

3 Aug 2012

SAGE Labs, Autism Speaks expand partnership to create first rat models for translational research

Autism Speaks, the world's leading autism science and advocacy organization, today announced its expanded collaboration with Sigma Advanced Genetic Engineering (SAGE) Labs, an initiative of Sigma- Life, to develop the first rat models with modified autism associated genes, intended to accelerate discovery and translational autism research.

3 Aug 2012

Fatty acid synthase provides new target for treatment of obesity and diabetes

Researchers at Washington University School of Medicine in St. Louis have identified a potential target for treating diabetes and obesity.

3 Aug 2012

New method could increase number of genetic components in synthetic biologists' toolkit

Through the assembly of genetic components into "circuits" that perform logical operations in living cells, synthetic biologists aim to artificially empower cells to solve critical problems in medicine, energy and the environment. To succeed, however, they'll need far more reliable genetic components than the small number of "off-the-shelf" bacterial parts now available.

3 Aug 2012

Australian scientists discover new virus in bats

Australian scientists have discovered a new virus in bats that could help shed light on how Hendra and Nipah viruses cause disease and death in animals and humans. The new virus - named 'Cedar' after the Queensland location where it was discovered - is a close relative of the deadly Hendra and Nipah viruses.

3 Aug 2012

Scientists link some cases of Essential Tremor to specific genetic problem

Researchers at the University of Montreal and its affiliated CHU Sainte-Justine and CHUM hospitals have linked some cases of Essential Tremor (ET) to a specific genetic problem. ET is the most common movement disorder, becoming increasingly frequent with increasing age, which is characterized by an involuntary shaking movement (tremor) that occurs with motion, particularly when doing precise fine movement.

3 Aug 2012

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

A trio of groundbreaking publications from researchers in Northwestern University's Physical Sciences-Oncology Center (PS-OC) report important methodological advances that will enable a better understanding of how gene expression is regulated, both in normal cells and in cancer cells. This knowledge could lead to the development of more effective therapeutic agents to treat cancer patients.

2 Aug 2012

Researchers discover genetic process that can restore function to a CF defective protein

Researchers at the University of Iowa Carver College of Medicine have discovered a genetic process that can restore function to a defective protein, which is the most common cause of cystic fibrosis (CF).

2 Aug 2012

High maternal choline intake may reduce risk of hypertension and diabetes in babies

New research from Cornell University indicates that pregnant women who increase choline intake in the third trimester of pregnancy may reduce the risk of the baby developing metabolic and chronic stress-related diseases like high blood pressure and diabetes later in life.

2 Aug 2012

CAP publishes revised version of molecular pathology checklist with dedicated section on NGS

The College of American Pathologists (CAP) published a revised version of its molecular pathology checklist with a dedicated section on next generation sequencing (NGS) as part of the new edition of the CAP Laboratory Accreditation Program checklists released July 31, 2012.

2 Aug 2012

Researchers unlock genetic secrets of peripheral T-cell lymphomas

Researchers at Mayo Clinic have completed the world's first genome-wide sequencing analysis of peripheral T-cell lymphomas, unlocking the genetic secrets of this poorly understood and highly aggressive cancer of the immune system.

2 Aug 2012

Genetic News and Research

Associate director of Clinical Genetics receives Angelo DiGeorge Medal of Honor

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Similar molecular pathways involved in intellectual disability due to Fragile X and Down syndromes

DNA inherited from mother can speed up male ageing

Planarian flatworms now a model system for studying eye development and eye diseases

Sta Op Tegen Kanker International Translational Cancer Research Grant recipients announced

Depression in kidney cancer patients associated with survival and inflammatory gene regulation

Researchers identify how telomerase is recruited to chromosome ends

Researchers discover surprising and unexpected plasticity in the embryonic endothelium

Researchers uncover 9 new genes associated with bone health

SAGE Labs, Autism Speaks expand partnership to create first rat models for translational research

Fatty acid synthase provides new target for treatment of obesity and diabetes

New method could increase number of genetic components in synthetic biologists' toolkit

Australian scientists discover new virus in bats

Scientists link some cases of Essential Tremor to specific genetic problem

Three papers focus on nucleosomes and may help uncover the rules governing gene transcription

Researchers discover genetic process that can restore function to a CF defective protein

High maternal choline intake may reduce risk of hypertension and diabetes in babies

CAP publishes revised version of molecular pathology checklist with dedicated section on NGS

Researchers unlock genetic secrets of peripheral T-cell lymphomas

Sequencing & Genomics: Elevating Science and Healthcare eBook

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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