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Researchers find compound that reverses type 1 myotonic dystrophy

A compound already used to treat pneumonia could become a new therapy for an inherited muscular wasting disease, according to researchers at the University of Oregon and the University of Rochester School of Medicine and Dentistry in New York.

7 Nov 2009

Autism Consortium holds its fourth annual symposium to update on autism

The Autism Consortium, an innovative collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), held its fourth annual symposium on October 28th, 2009, at Harvard Medical School in Boston.

6 Nov 2009

Phase 1 study of STX107 for Fragile X syndrome begins

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability. There has to date been no medication that could alter the disorder's neurologic abnormalities. The study will evaluate safety, tolerability, and optimal dosage in healthy volunteers.

3 Nov 2009

Research provides new insight on gene fusion, a phenomenon known to cause prostate cancer

Researchers at the University of Michigan Comprehensive Cancer Center have discovered what leads to two genes fusing together, a phenomenon that has been shown to cause prostate cancer to develop.

30 Oct 2009

Researchers discover new bend in gene control

Since the completion of the human genome sequence, a question has baffled researchers studying gene control: How is it that humans, being far more complex than the lowly yeast, do not proportionally contain in our genome significantly more gene-control proteins?

30 Oct 2009

Research reveals that mutation of chromosome 16 increases risk of schizophrenia

An international team of researchers led by geneticist Jonathan Sebat, Ph.D., of Cold Spring Harbor Laboratory (CSHL), has identified a mutation on human chromosome 16 that substantially increases risk for schizophrenia.

26 Oct 2009

Professor Suzanne Cory receives award for her work in cancer and immunogenetics

Professor Suzanne Cory, the former director of the Walter and Eliza Hall Institute of Medical Research in Melbourne, Australia, has been named the recipient of the 2009 Pearl Meister Greengard Prize.

24 Oct 2009

LANL and international researchers propose new genome sequence strategies

A team of geneticists at Los Alamos National Laboratory, together with a consortium of international researchers, has recently proposed a set of standards designed to elucidate the quality of publicly available genetic sequencing information.

22 Oct 2009

Novartis' Tasigna capsules meets primary endpoint in comparison trial with Gleevec

Novartis announced today that Tasigna (nilotinib) 200 mg capsules met its primary endpoint in the first head-to-head comparison with the company's groundbreaking drug Gleevec (imatinib mesylate) tablets*. Tasigna produced faster and deeper responses than Gleevec when given as first-line therapy for adult patients with newly diagnosed Philadelphia chromosome-positive chronic myeloid leukemia (Ph+ CML) in chronic phase. Tasigna was well tolerated in the study.

20 Oct 2009

Clonality analyses may lead to further understanding of hepatocarcinogenesis

Focal nodular hyperplasia (FNH) is a lesion found in an otherwise normal liver, and is considered to be parenchyma overgrowth responsive to increased blood flow secondary to vascular malformations.

20 Oct 2009

Substantial price reduction for 24 Chromosome Aneuploidy Screening

Gene Security Network, Inc. (GSN) today announced a substantial price reduction for its 24 Chromosome Aneuploidy Screening with Parental SupportTM. Effective immediately, pricing has been restructured to a single flat fee for testing of up to 24 embryos in an in vitro fertilization (IVF) cycle.

20 Oct 2009

Researchers find the genetic mutation that is linked with changes in brain development

For decades, scientists have thought the faulty neural wiring that predisposes individuals to behavioral disorders like autism and psychiatric diseases like schizophrenia must occur during development. Even so, no one has ever shown that a risk gene for the disease actually disrupts brain development.

19 Oct 2009

New chromosomal abnormality in acute lymphoblastic leukemia

Researchers identified a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that appears to work in concert with another mutation to give rise to cancer. This latest anomaly is particularly common in children with Down syndrome.

19 Oct 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

Researchers discover new cancer gene that causes adenoid cystic carcinoma

The cancer caused by this new cancer gene is called adenoid cystic carcinoma and is a slow-growing but deadly form of cancer. The research group can now show that the gene is found in 100% of these tumours, which means that a genetic test can easily be used to make a correct diagnosis.

14 Oct 2009

Researchers identify genes that play a role in the development of endometrial cancer

Researchers at the University of Gothenburg, Sweden, have identified two genes believed to play a role in the development of endometrial cancer. These results may eventually lead to better diagnosis and treatment of this increasingly common form of cancer.

12 Oct 2009

Family and population based approaches sheds new light on the potential roles of common and rare forms of human genetic variation

In one of the first studies of its kind, an international team of researchers has uncovered a single-letter change in the genetic code that is associated with autism. The finding, published in the October 8 issue of the journal Nature, implicates a neuronal gene not previously tied to the disorder and more broadly, underscores a role for common DNA variation.

8 Oct 2009

Daily doses of imatinib mesylate double survival rates in Ph+ ALL affected children

Results of a phase two clinical trial published October 5th in the Journal of Clinical Oncology show that adding continuous daily doses of a targeted drug called imatinib mesylate to regular chemotherapy more than doubled three-year survival rates for children with a high risk type of blood cancer called Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL).

7 Oct 2009

Molecular biologist receives 2009 Nobel Prize in Physiology or Medicine

Molecular biologist Elizabeth H. Blackburn, PhD, 60, of the University of California, San Francisco, today was named to receive the 2009 Nobel Prize in Physiology or Medicine.

6 Oct 2009

New genetic alteration can cause familial cancers

Duke University Medical Center and National Cancer Institute scientists have discovered that a novel genetic alteration - a second copy of an entire gene - is a cause of familial chordoma, an uncommon form of cancer arising in bones and frequently affecting the nervous system.

5 Oct 2009