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".

Findings may open up new ways to treat dwarfism and other ER-stress-related conditions

Pseudoachondroplasia (PSACH) is a severe inherited dwarfing condition characterized by disproportionate short stature, joint laxity, pain, and early onset osteoarthritis.

12 Dec 2018

The evolution of gigantism in tortoises continues to be enigmatic

Tortoises are a group of terrestrial turtles globally distributed in habitats ranging from deserts to forests and include species such as the Greek and the Galapagos tortoise

24 Oct 2018

Kopchicks' $10.5 million gift to fund student fellowships at MD Anderson UTHealth Graduate School

Just as he has changed the lives of people suffering from a devastating genetic disease, molecular endocrinologist John J. Kopchick, Ph.D., and his wife, Charlene, of Athens, Ohio, are paving the way for future scientists to do the same with a transformative $10.5 million gift to The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences.

23 Jun 2017

Actress Kiruna Stamell argues about gene editing with Dr Christopher Gyngell

Two papers published today by the Journal of the Royal Society of Medicine, debate gene editing and the health of future generations.

29 Apr 2017

First national survey reveals high burden of iodine deficiency among Israelis

62% of school-age children and 85% of pregnant women in Israel have low iodine intakes, according to the country's first national iodine survey. Government funding and legislation, and a government-regulated program of salt or food iodization, are essential to reducing the deficiency, which poses a high risk of impaired neurological development.

27 Mar 2017

High-resolution images of protein complex performing first step in genome-replication dance captured

It's a good thing we don't have to think about putting all the necessary pieces in place when one of our trillions of cells needs to duplicate its DNA and then divide to produce identical daughter cells.

17 Mar 2017

Study shows how errors in specific gene can cause growth defects linked to dwarfism

A new study shows how errors in a specific gene can cause growth defects associated with a rare type of dwarfism.

13 Feb 2017

Scientists reveal underlying mechanisms leading to microcephaly in NBS patients

Scientists from Jerusalem and Duesseldorf have succeeded in generating induced pluripotent stem cells from a rare disorder called Nijmegen breakage syndrome (NBS) and to push these cells to become early neurons, revealing the mechanisms leading to the neurological phenotype observed in these patients.

9 Sep 2016

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