Dwarfism News and Research

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The most widely accepted definition of a dwarf is a person with an adult height of less than 4 feet 10 inches (147cm). In older popular and medical usage, any type of marked human smallness could also be termed dwarfism. People who are affected by dwarfism are often referred to as "little people".

Effective chemotherapeutic drug may induce permanent hearing loss in Cockayne syndrome individuals

The chemotherapy drug cisplatin can kill cancer, but it can also cause permanent hearing loss.

19 May 2016

Research brings scientists closer to understanding mechanisms underlying genomic imprinting process

Research led by Dr. Keiji Tanimoto from the University of Tsukuba, Japan, has brought us closer to understanding the mechanisms underlying the phenomenon of genomic imprinting.

25 Nov 2015

Clearer understanding of ORC offers new insight into fundamental DNA replication initiation mechanisms

A clearer understanding of the origin recognition complex (ORC) - a protein complex that directs DNA replication - through its crystal structure offers new insight into fundamental mechanisms of DNA replication initiation. This will also provide insight into how ORC may be compromised in a subset of patients with Meier-Gorlin syndrome, a form of dwarfism in humans.

9 Apr 2015

UAB scientist explores the bone development function of runx2 gene

Amjad Javed, Ph.D., of the University of Alabama at Birmingham, has taken a major step forward in understanding the bone development function of a gene called runx2, which could lead to future ways to speed bone healing, aid bone bioengineering, stem osteoporosis and reduce arthritis.

30 Mar 2015

Scientists use x-ray vision to probe early stages of DNA 'photocopying'

Scientists at Johns Hopkins have created a 3-D model of a complex protein machine, ORC, which helps prepare DNA to be duplicated.

16 Mar 2015

Genetic finding could lead to new treatments for people living with blindness, vision loss

Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery.

13 Jan 2015

UMMS, UMMSM researchers identify key genetic pathway underlying bipolar disorder

A team of scientists led by researchers at the University of Massachusetts Medical School and the University of Miami Miller School of Medicine have identified what is likely a key genetic pathway underlying bipolar (manic depressive) disorder, a breakthrough that could lead to better drugs for treating bipolar affective disorder, as well as depression and other related mood disorders.

14 Oct 2014

Research for better understanding of pathology of severe form of dwarfism

A better understanding of the pathology of a severe form of dwarfism as well as a possible window of treatment have been discovered by researchers at The University of Texas Health Science Center at Houston (UTHealth).

4 Sep 2014

Scientists discover why cerebellar granule cell neurons in A-T patients fail to repair DNA damage

A team of scientists, led by Stuart Lipton, M.D., Ph.D., professor and director of the Neuroscience and Aging Research Center at Sanford-Burnham Medical Research Institute, recently discovered why cerebellar granule cell neurons in patients suffering from ataxia-telangiectasia (A-T) were unable to repair DNA damage and thus died.

26 Mar 2014

Researchers identify mutation in ITGA10 gene that causes chondrodysplasia in dog breeds

Professor Hannes Lohi's research group at the University of Helsinki and Folkhälsan Research Center has identified a mutation in ITGA10 gene, causing chondrodysplasia in two dog breeds, the Norwegian Elkhound and the Karelian Bear Dog.

26 Sep 2013

RUB researchers develop new hypothesis on occurrence of Alzheimer's disease

A new hypothesis has been developed by researchers in Bochum on how Alzheimer's disease could occur. They analysed the interaction of the proteins FE65 and BLM that regulate cell division.

15 Apr 2013

Scientists reveal timing mechanism in formation of vertebrae

As they develop, vertebrate embryos form vertebrae in a sequential, time-controlled way. Scientists have determined previously that this process of body segmentation is controlled by a kind of "clock," regulated by the oscillating activity of certain genes within embryonic cells. But questions remain about how precisely this timing system works.

14 Nov 2012

Healthy intake of micronutrients may boost sperm DNA quality in older men

A new study led by scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) found that a healthy intake of micronutrients is strongly associated with improved sperm DNA quality in older men.

27 Aug 2012

Researchers discover genetic cause of type VII mucopolysaccharidosis in Brazilian Terriers

The genetics research group led by Professor Hannes Lohi, based at the University of Helsinki and the Folkh-lsan Research Center, has, in collaboration with Adjunct Professor Kirsi Sainio's research group, discovered the cause of a life-threatening skeletal disorder affecting Brazilian Terriers. The disease is caused by a mutation in the GUSB gene.

7 Aug 2012

Orc1 mutations may explain pathology in manifestations of Meier-Gorlin syndrome

Research published Aug. 1 by scientists at Cold Spring Harbor Laboratory (CSHL) links gene mutations found in some patients with Meier-Gorlin syndrome (MGS) with specific cellular dysfunctions that are thought to give rise to a particularly extreme version of dwarfism, small brain size, and other manifestations of abnormal growth which generally characterize that rare condition.

1 Aug 2012

BioMarin to initiate BMN-111 Phase 1 trial in achondroplasia

BioMarin Pharmaceutical Inc. announced today that the Investigational New Drug (IND) application for BMN-111, an analog of C-type Natriuretic Peptide (CNP), for achondroplasia is active.

4 Jan 2012

Pacific Reproductive Center celebrates Annual Baby Reunion in Torrance

When April Gooding was born 19 years ago in Torrance, infants like her were called "test tube babies" and in vitro fertilization was still considered experimental. Nearly two decades later, almost 4 million IVF babies have been born, including several hundred who will join April and the fertility expert who helped create her as one of his first successes.

1 Jun 2011

A special type of Dwarfism protects against cancer & diabetes: Study

Researchers have found that some individuals living in remote villages in Ecuador have a mutation that could throw light on human longevity and ways to increase it. These villagers, all dwarfs with heights less than three and a half feet, have a rare condition called Laron syndrome or Laron dwarfism.

20 Feb 2011

BioMarin announces BMN-111 program for treatment of achondroplasia

BioMarin Pharmaceutical Inc. today announced its program for BMN-111, a peptide therapeutic for the treatment of achondroplasia. BioMarin plans to file an IND in the fourth quarter of 2011 and to initiate a Phase 1 clinical trial by the first quarter of 2012.

19 Oct 2010

Small businesses continue search for health reform information

The Bergen County (N.J.) Record/NorthJersey.com: Small businesses continue to assess the impact health reform will have on them. "While some believe the reforms will help control health costs and give assistance to small businesses that can't afford worker coverage, others are skeptical they will benefit when the plan is up and running — and some are sure it will hurt.

13 Apr 2010