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".

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

Study reveals that KCNE2 and KCNQ1 mutations can results in thyroid dysfunction

Genes previously known to be essential to the coordinated, rhythmic electrical activity of cardiac muscle -- a healthy heartbeat -- have now also been found to play a key role in thyroid hormone (TH) biosynthesis, according to Weill Cornell Medical College researchers.

21 Sep 2009

Discovery of key gene for bone development that when mutated lead to dwarfism

Scientists have just discovered the gene behind Recessive Omodysplasia, a rare skeletal disease characterised by short-limbed dwarfism and craniofacial anomalies.

9 Jul 2009

TV series brings dwarfism into the spotlight

A popular cable reality television show, Little People, Big World, focuses on the daily lives of short stature individuals.

1 Apr 2009

Genetic testing may not lead to demand for 'designer babies'

A new study by researchers at NYU Langone Medical Center found a high desire for additional genetic testing among consumers for life altering and threatening medical conditions including mental retardation, blindness, deafness, cancer, heart disease, dwarfism and shortened lifespan from death by 5 years of age.

27 Jan 2009

In-breeding in pedigree dogs means debilitating genetic diseases

Research in the UK by the BBC has revealed that pedigree dogs are being bred with debilitating genetic diseases and the culprit is the breeding process used to produce pedigree dogs.

19 Aug 2008

Apert's syndrome - new discovery

In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found.

14 Jul 2008

Small-bodied humans from island of Palau

Since the reporting of the so-called "hobbit" fossil from the island of Flores in Indonesia, debate has raged as to whether these remains are of modern humans (Homo sapiens), reduced, for some reason, in stature, or whether they represent a new species, Homo floresiensis.

10 Mar 2008

New Cockayne syndrome discovery

Scientists of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) have shown that the genetic defect that causes Cockayne Syndrome affects a key function of the cell – the transcription of genes coding for ribosomal RNA.

21 Aug 2007

Men have a biological clock too and produce poor quality sperm as they age

Researchers in the U.S. say that even though men are able to father children well into old age, the quality of the sperm declines as men age.

6 Jun 2006

Farnesyltransferase inhibitor may improve progeria

UCLA researchers found that an experimental cancer drug improves the signs of progeria in a mouse model. Progeria is a rare genetic disease causing accelerated aging and cardiovascular disease in children. The new UCLA findings help to define a new strategy for treating children with progeria.

17 Feb 2006

GM mice live longer and give hope for anti-aging treatments

U.S. scientists have produced genetically modified mice that live 20 per cent longer than normal and may have possibly discovered an approach to extending the human lifespan.

8 May 2005

Scientists extend the lifespan of mice

Scientists at the University of Washington and their colleagues at other research centers have found a way to significantly extend the lifespan of mice while reducing the impact of the aging process. Their study, which will be published online by the journal Science on May 5, lends more credence to the free-radical theory of aging.

5 May 2005