A human gene placed in fruit flies reveals details about a human developmental disorder
(University of Alabama at Birmingham) Meier-Gorlin syndrome, or MGS, is a rare genetic developmental disorder that causes dwarfism, small ears, a small brain, missing patella and other skeletal abnormalities. One mutation causing MGS, first reported in 2017, is a Lysine 23 to Glutamic acid (K23E) substitution in the gene for Orc6. Researchers have now put that mutant human gene into fruit flies to probe the function of Orc6 K23E. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 14, 2020 Category: International Medicine & Public Health Source Type: news
What is the Lifespan for a Child with Holoprosencephaly?
Discussion
Holoprosencephaly (HPE) is a clefting problem of the brain. “[HPE] the result of incomplete or absent midline division of the embryonic forebrain into distinct cerebral hemispheres (prosencephalon) between the 18th and 28th day after conception.”
There are four distinct subtypes:
Alobar – both hemispheres are completely fused and are not separated into the left and right hemispheres. There is agenesis of the corpus callosum, arrhinencephaly and a single ventricle with fused thalami. Facial features are almost always affected.
Semilobar – the cerebral hemispheres are fused anteriorly bu...
Source: PediatricEducation.org - November 18, 2019 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
With 'breakthrough' skin cancer drug, Bay Area drug maker lands $70M
On the cusp of taking its drug into a late-stage clinical trial for a rare genetic skin condition, a small San Francisco drug developer scored a potential $760 million deal with Danish drug maker Leo Pharma A/S.
The pact, including an initial $70 million in equity and research-and-development support, gives PellePharm Inc. enough money to complete the Phase III study in people with Gorlin Syndrome. That skin condition today, while not a health threat, can lead to as many as 30 procedures a year… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - November 21, 2018 Category: Pharmaceuticals Authors: Ron Leuty Source Type: news
How a weedy plant from the Rockies could block a skin cancer-causing hedgehog
As many as 30 tumors a year appear on the face and sun-exposed areas of the body of Gorlin Syndrome patients. But this Peninsula company expects to take a drug for the condition into a late-stage study this summer. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - February 2, 2018 Category: Biotechnology Authors: Ron Leuty Source Type: news
How a weedy plant from the Rockies could block a skin cancer-causing hedgehog
As many as 30 tumors a year appear on the face and sun-exposed areas of the body of Gorlin Syndrome patients. But this Peninsula company expects to take a drug for the condition into a late-stage study this summer. (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - February 2, 2018 Category: Pharmaceuticals Authors: Ron Leuty Source Type: news
Genotype-Phenotype Correlations in Gorlin Syndrome Genotype-Phenotype Correlations in Gorlin Syndrome
What do we currently know about the genotype and phenotype correlations in Gorlin syndrome?Journal of Medical Genetics (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - October 10, 2017 Category: Consumer Health News Tags: Hematology-Oncology Journal Article Source Type: news
Medovex touts 1st sale, commercial use of DenerveX system
Medovex said today that it sold its 1st DenerveX system, and that the device had been used in its 1st commercial procedures since winning CE Mark approval in the European Union last month.
The DenerveX system uses a slowly rotating burr to remove targeted facet joint synovial membrane and radiofrequency ablation technology to destroy tissue and denude any residual nervous and synovial membrane on the joint, effectively removing sensory tissue from it, the Atlanta-based company said.
The system consists of a DenerveX device kit with a single use medical device and a DenerveX Pro-40 power generator, Medovex said.
“Our ...
Source: Mass Device - July 19, 2017 Category: Medical Devices Authors: Fink Densford Tags: Business/Financial News Spinal Medovex Source Type: news
Medovex wins CE Mark for DenerveX spinal denervation system
Medical technology portfolio company Medovex said today it won CE Mark approval in the European Union for its DenerveX spinal denervation treatment system designed to treat facet joint syndrome.
The DenerveX system uses a slowly rotating burr to remove targeted facet joint synovial membrane and radiofrequency ablation technology to destroy tissue and denude any residual nervous and synovial membrane on the joint, effectively removing sensory tissue from it, the Atlanta-based company said.
“We are clearly pleased to have accomplished this important milestone not just for our shareholders, but for all of those sufferi...
Source: Mass Device - June 5, 2017 Category: Medical Devices Authors: Fink Densford Tags: Regulatory/Compliance Spinal Medovex Source Type: news
Medovex sells Streamline IV suspension system assets to Skytron
Medical technology portfolio company Medovex said today it sold its Streamline IV suspension system assets to acute care focused healthcare company Skytron for an undisclosed amount.
The Atlanta-based company’s Streamline ISS system is designed to mount the ISS to any bed or stretcher in hospitals and care facilities, according to Medovex’s website.
Proceeds from the sale will support the development of Medovex’s DenerveX system, which is designed to provide pain relief associated with the facet joint, which is associated with back pain, the company said.
“We’re pleased to have successfully cl...
Source: Mass Device - December 12, 2016 Category: Medical Equipment Authors: Fink Densford Tags: Business/Financial News Hospital Care Mergers & Acquisitions Medovex Skytron Source Type: news
PellePharm announces launch to develop topical gel for basal cell carcinoma
PellePharm announced its launch today, with financing from BridgeBio Pharma. The Menlo Park, Calif.-based company is developing a topical gel to treat basal cell carcinoma, including the tumors that result from Gorlin syndrome.
The company’s topical inhibitor compound, patidegib, acts on the hedgehog pathway – a signaling pathway that transmits cellular information for adult tissue maintenance. Abnormal hedgehog signaling has been correlated with a number of cancers including basal cell carcinoma. PellePharm is studying the topical formulation of patidegib in 2 phase II trials. A study evaluating the gel’...
Source: Mass Device - December 8, 2016 Category: Medical Equipment Authors: Sarah Faulkner Tags: Clinical Trials Drug-Device Combinations Oncology Pharmaceuticals BridgeBio Pharma PellePharm Source Type: news
HedgePath reports positive interim data from Phase IIb trial of SUBA-Itraconazole to treat Gorlin Syndrome
US-based, clinical stage biopharmaceutical company HedgePath (HPPI) has reported positive interim data from its Phase IIb clinical trial of SUBA-Itraconazole to treat basal cell carcinoma nevus syndrome (BCCNS), also known as Gorlin Syndrome. (Source: Drug Development Technology)
Source: Drug Development Technology - August 3, 2016 Category: Pharmaceuticals Source Type: news
EADV: Fresh insights into Gorlin syndrome
COPENHAGEN – A glimpse into the massive burden imposed upon patients with basal cell nevus syndrome (BCNS) is provided by the initial report from the first U.S. registry of patients affected with the disorder to include individuals who’ve tried the Hedgehog signaling pathway inhibitor... (Source: Skin and Allergy News)
Source: Skin and Allergy News - December 11, 2015 Category: Dermatology Source Type: news
Improved understanding of protein complex offers insight into DNA replication initiation mechanism basics
A clearer understanding of the origin recognition complex -- 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. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 8, 2015 Category: Science Source Type: news
Improved understanding of protein complex offers insight into DNA replication initiation mechanism basics
(DOE/Argonne National Laboratory) A clearer understanding of the origin recognition complex -- 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. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 8, 2015 Category: Global & Universal Source Type: news
New cause of child brain tumor condition identified
(University of Manchester) Doctors and scientists from the University of Manchester have identified changes in a gene, which can increase the risk of developing brain tumors in children with a rare inherited condition called Gorlin syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - December 2, 2014 Category: Global & Universal Source Type: news
