Lifeboat Foundation

The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).

“Next-generation sequencing has the potential to transform the practice of clinical genetics rapidly,” writes Dr. David Dyment, Children’s Hospital of Eastern Ontario (CHEO), with coauthors. “In particular, newborns admitted to the NICU with rare and complex diseases may benefit substantially from a timely molecular diagnosis through next-generation sequencing.”

Children with suspected rare genetic diseases usually undergo a battery of tests to determine a molecular diagnosis. Current practice involves testing of specific genes or a panel of genes, and these tests are often done outside the country because of limited availability within Canada. This means it may be months or even years before a diagnosis is made.

Continue reading “Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases” »

The human genome contains more than 20,000 protein-coding genes, which carry the instructions for proteins essential to the structure and function of our cells, tissues and organs. Some of these genes are very similar to each other because, as the genomes of humans and other mammals evolve, glitches in DNA replication sometimes result in extra copies of a gene being made. Those duplicates can be passed along to subsequent generations and, on very rare occasions, usually at a much later point in time, acquire additional modifications that may enable them to serve new biological functions. By starting with a protein shape that has already been fine-tuned for one function, evolution can produce a new function more rapidly than starting from scratch.

Pretty cool! But it leads to a question that’s long perplexed evolutionary biologists: Why don’t duplicate genes vanish from the gene pool almost as soon as they appear? After all, instantly doubling the amount of protein produced in an organism is usually a recipe for disaster—just think what might happen to a human baby born with twice as much insulin or clotting factor as normal. At the very least, duplicate genes should be unnecessary and therefore vulnerable to being degraded into functionless pseudogenes as new mutations arise over time.

An NIH-supported team offers a possible answer to this question in a study published in the journal Science. Based on their analysis of duplicate gene pairs in the human and mouse genomes, the researchers suggest that extra genes persist in the genome because of rapid changes in gene activity. Instead of the original gene producing 100 percent of a protein in the body, the gene duo quickly divvies up the job [1]. For instance, the original gene might produce roughly 50 percent and its duplicate the other 50 percent. Most importantly, organisms find the right balance and the duplicate genes can easily survive to be passed along to their offspring, providing fodder for continued evolution.

Continue reading “Gene Duplication: New Analysis Shows How Extra Copies Split the Work” »

Pot can cause serious illness due to its gene altering effects.

Scientists from The University of Western Australia have identified how using cannabis can alter a person’s DNA structure, causing mutations which can expose them to serious illnesses, and be passed on to their children and several future generations.

Although the association between cannabis use and severe illnesses such as cancer has previously been documented, how this occurs and the implications for future generations was not previously understood.

Continue reading “Cannabis use linked to gene mutation” »

Interesting.

The research, published in Nature Structural and Molecular Biology, explains how the gene encourages the attachment of the protein, ubiquitin, to other proteins and plays a vital role in DNA repair. Should the results be confirmed by further studies, it is possible that patients with certain genetic changes in BRCA1 could be identified as being at higher risk of breast and ovarian cancer.

Great news for precision medicine.

European regulators have given the green light for a British drug firm to produce the world’s first gene therapy treatment for children.

GlaxoSmithKline was given approval by the European Commission to provide the treatment to children with a rare immune disorder — which can be fatal for those affected.

Continue reading “First gene therapy for children is approved in Europe: Radical treatment for rare ‘bubble boy’ disorder has a 100% survival rate” »

My new article for Vice Motherboard on extreme biohacking that compares the Uncanny Valley to Speciation Syndrome:

Transhumanism tech like CRISPR, 3D printing, and coming biological regeneration of limbs will not only change lives for those that have deformities, but it will change how we look at things like a person with a three-foot tail and maybe even a second head.

At the core of all this is the ingrained belief that the human being is pre-formed organism, complete with one head, four limbs, and other standard anatomical parts. But in the transhumanist age, the human being should be looked at more like a machine—like a car, if you will: something that comes out a particular way with certain attributes, but then can be heavily modified. In fact, it can be rebuilt from scratch.

Continue reading “The Coming Genetic Editing Age of Humans Won’t Be Easy to Stomach” »

The race is on to develop the first senescent cell clearance therapies (a.k.a., “senolytics”) to reverse the aging process and treat age-related diseases.

An interesting procedure for the treatment of deep vein thrombosis.

Mol Biol Cell. 2015 May 1;26:1752–63. doi: 10.1091/mbc. E14-07–1239. Epub 2015 Mar 4. Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov’t.