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We are witnessing a revolution in healthcare, driven by advances in genetics, Omics, RNA and CRISPR gene-editing technology, to deliver precision and personalised medicine, said Kiran Mazumdar-Shaw, executive chairperson, Biocon and Biocon Biologics. This holds the potential to cure geneticdiseases that have plagued families for generations.
Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment.
CAH is a group of rare genetic disorders affecting the adrenal glands, which produce essential hormones like cortisol, aldosterone and androgens. The most common form of CAH, 21-hydroxylase deficiency, disrupts hormone production, leading to cortisol deficiency and an overproduction of androgens.
A team of researchers at the University of Georgia has identified the source of several symptoms in patients suffering from familial dysautonomia (FD), a rare and debilitating geneticdisease that primarily affects children.
This week, researchers presented findings in how ancestry affects cancer treatment, nanotechnology and geneticdiseases. Here's a look at that and more.
Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
Curing debilitating geneticdiseases is one of the great challenges of modern medicine. During the past decade, development of CRISPR technologies and advancements in geneticsresearch brought new hope for patients and their families, although the safety of these new methods is still of significant concern.
CF is a progressive geneticdisease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. Vertex remains committed to advancing CF research, with plans to expand the impact of their CFTR modulators and explore new genetic mutations.
While cancer is a geneticdisease, the genetic component is just one piece of the puzzle — and researchers need to consider environmental and metabolic factors as well, according to a research review by a leading expert at the University of Alberta.
In the world of rare geneticdiseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.
At a far distant point in Earth’s ancient past, two separate, single-celled life forms — an archaeon and a bacteria — became one in an act either of symbiosis or enslavement, depending on which microbiologist you ask.
In any given cell at any given time, molecular processes are underway to seal cracks in the double helix or proofread the genetic code, all part of a perpetual upkeep program that maintains the body's status quo and staves off disease.
There are options in the future to possibly apply the worldwide research and development (R&D), manufacturing and marketing expertise of Astellas in gene therapy to AAV gene therapy development programmes of Taysha for genetic ailments of the central nervous system (CNS).
The Abu Dhabi Department of Health (DoH) in the UAE has made a declaration of collaboration with Mass General Brigham’s (MGB) International Center for GeneticDisease (iCGD) to advance life sciences.
MiNA Therapeutics has entered into a research collaboration and option licensing agreement with BioMarin Pharmaceutical to speed up the development of therapeutic ribonucleic acid activation (RNAa) candidates to treat rare geneticdiseases. The option licensing agreement is based on early-stage clinical results.
They study gene variation and mutations that cause rare geneticdiseases. A mutation is a permanent change in the genetic material. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo.
But after Cheung herself developed a genetic condition so rare it doesn’t have an official name, causing her to start losing her vision, HHMI decided to stop funding her. “I was asked to take a medical retirement,” Cheung told STAT. “I felt that I was being judged for having a disability.”
Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU), a congenital disease that—if not treated early—causes serious complications. Research demonstrating the efficacy of this test was published today in Clinical Chemistry.
But the last time an event like this took place, in November 2018, carefully planned discussions about how it might be responsibly harnessed to treat geneticdiseases were derailed by news that a team of researchers in China claimed to have already crossed a bright-red scientific rubicon — they’d used it to create the world’s first (..)
The assembly process is tightly controlled, and any failure can result in geneticdiseases, including some […]. These proteins are assembled and matured, forming a kind of consortium of proteins that perform these gene reading functions.
Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Penn team uses CRISPR to edit out geneticdisease before and after birth in mice.Penn team uses CRISPR to edit out geneticdisease before and after birth … Continue reading →
An international team led by Soeren Lienkamp, professor at the Institute of Anatomy at UZH, has now exploited this similarity by using a tiny tropical frog called Xenopus tropicalis to model human geneticdiseases. The researchers focused on polycystic kidney disease, a congenital […].
The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline. This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University of Leipzig Medical Center.
To protect this child from the same geneticdisease that killed two older siblings, treating her as soon as she was born might only work so well, the doctors knew. So they dialed back the therapeutic clock, delivering the medication to her as a fetus. Now 16 months old, Ayla appears totally healthy.
In proof-of-concept study, CHOP researchers used an AAV9 vector to edit a single base mutation, halting progression of a disease that causes irreversible damage before birth Philadelphia, July 13, 2021–Adding to the growing body of literature demonstrating the feasibility of correcting lethal geneticdiseases before birth, researchers at Children’s (..)
RespireRx Pharmaceuticals has signed a material transfer agreement with University College London (UCL) to conduct a joint study to research the potential of AMPAkine to treat GRIA disorder. GRIA disorder is a family of rare geneticdiseases.
LONDON — England is launching a pilot program sequencing the genomes of up to 100,000 newborns to see if such a strategy can speed up the detection of genetic illnesses. The Newborn Genomes Programme will scan DNA for mutations that can cause some 200 conditions.
In 1974, Dr. Robert Langer was part of the first cohort of researchers to begin nanoparticle research , as his lab at Cornell University developed tiny particles to deliver large molecules for angiogenesis. The next wave came from early research into liposomes and lipid nanoparticles, both of which are used for drug delivery.
Hopewell Therapeutics president and CEO Louis Brenner stated: “Hopewell Therapeutics seeks to redefine the non-viral delivery space for novel genomic medicines by designing systemically administered LNPs to specifically target extrahepatic tissues and cells throughout the body.
Asklepios BioPharmaceutical has entered a research partnership and option agreement with ReCode Therapeutics for exploring its single-vector gene-editing platform. Beyond the liver, ReCode’s SORT LNP genetic medicines technology enables the delivery to target cells and organs.
Solid Biosciences has entered a strategic research collaboration with Phlox Therapeutics to expedite the development of new therapies for rare cardiac diseases. Under the research partnership deal, the companies will develop new precision genetic medicines for a severe form of genetic dilated cardiomyopathy (DCM).
JUPITER, FL – The American Chemical Society announced that its prestigious 2022 Nobel Laureate Signature Award for Graduate Education in Chemistry honors a student from the Skaggs Graduate School of Chemical and Biological Sciences at Scripps Research and her faculty advisor, for their pioneering work developing RNA-targeting medications for genetic (..)
The rights to the oRNA-LNP technology platform of Orna will be retained by the company, which will also progress various other fully owned programmes in oncology and geneticdisease areas. In addition, Merck will make a $100m equity investment in Orna’s Series B funding round concluded recently.
In a study conducted by researchers at Stanford University, three pediatric patients with a rare geneticdisease that often results in kidney failure received kidney transplants.
Known as myofibrillar myopathies, these rare geneticdiseases lead to progressive muscle wasting, affecting muscle function and causing weakness. Credit: Credit: Stephen Greenspan.
Philadelphia, September 13, 2021—Researchers at Children’s Hospital of Philadelphia (CHOP) have demonstrated that an experimental device can improve blood sugar control in patients who developed diabetes after their pancreas was removed to treat their hyperinsulinism, a geneticdisease in which the pancreas produces too much insulin.
That investment, equal to the National Institutes of Health’s annual spending on medical research, would seem like great news for a world waiting for help with a pandemic. Yet nearly half the money has flooded into cancer and rare diseases with expensive cures. Only about $2.2 ” VCs also don’t like price controls.
Researchers at the University of Illinois Chicago have published a study showing a promising approach to using drug repurposing to treat geneticdiseases. A team from the […].
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