Lifeboat Foundation

Recently approved gene therapies offer patients one-time, potentially curative treatments for genetic diseases such as sickle cell anemia and beta thalassemia. But “one-time” miracle solutions can often be multi-month affairs, require millions of dollars, and cause painful side effects. What if that doesn’t have to be the case?

In utero gene editing, or prenatal somatic cell genome editing, envisions treating a fetus diagnosed with a genetic disease before birth, thereby preventing that entire protocol and the onset of symptoms in the first place. It would also challenge the need for the ethically fraught enterprise of embryo editing, as the treatment would only make edits in the DNA of the individual fetus — edits which would not be passed on in a heritable way.

Watch this video to learn more about in utero gene editing, how it works, and why scientists believe it might be an advantageous approach to treating certain genetic diseases.

Gene editing technology could revolutionize the treatment of genetic diseases, including those that affect the mitochondria—cell structures that generate the energy required for the proper functioning of living cells in all individuals. Abnormalities in the mitochondrial DNA (mtDNA) could lead to mitochondrial genetic diseases.

Targeted base editing of mammalian mtDNA is a powerful technology for modeling mitochondrial genetic diseases and developing potential therapies. Programmable deaminases, which consist of a custom DNA-binding protein and a nucleobase deaminase, enable precise mtDNA editing.

There are two types of programmable deaminases for genome editing: cytosine base editors and adenine base editors, such as DddA-derived cytosine base editors (DdCBEs) and transcription activator-like effector (TALE)-linked deaminases (TALEDs). These editors bind to specific DNA sites in the mitochondrial genome and convert bases, resulting in targeted cytosine-to-thymine (C-to-T) or adenine-to-guanine (A-to-G) conversions during DNA replication or repair. However, the current gene editing approaches have many limitations, including thousands of off-target A-to-G edits while using TALEDs.

Researchers have unraveled how mutations in a gene can lead to an incurable neurodevelopmental disorder that causes abnormal brain development in newborns and infants.

The WEHI study is the first to prove that a protein called Trabid helps control neuronal development, and that mutations to this protein can lead to microcephaly —a condition where a baby’s brain is smaller than expected.

It’s hoped the milestone findings will provide a deeper understanding into the protein’s impact on healthy development and lead to treatments that can slow or stop the development of microcephaly and potentially other neurological disorders.

“Lynch syndrome also known as HNPCC (Hereditary Non-Polyposis Colorectal Cancer) is an autosomal dominant condition that increases the risk of developing certain cancers, particularly bowel cancer. It results from mutations in genes that help to correct errors during DNA replication. Lynch syndrome patients have a higher incidence of bowel cancer in their lifetime and such other cancers as endometrial, ovarian, stomach and urinary tract cancers. These patients have an earlier presentation, i.e. younger age group. People with this condition face a much higher risk of developing colorectal cancer at ages below 50 years. This underscores the need for an early diagnosis through screening and surveillance in individuals having Lynch syndrome so that it can be detected rather earlier when it would be more easily treatable,” says Dr Tanveer Abdul Majeed, Consultant, Surgical Oncology, Kokilaben Dhirubhai Ambani Hospital Navi Mumbai.

“To effectively tackle Lynch syndrome-related cancers, early detection is vital. Screening protocols typically involve genetic testing to identify individuals at risk and surveillance measures, such as regular colonoscopies, starting at a younger age. Genetic counselling plays a pivotal role in Lynch syndrome management, providing affected individuals and their families with personalized risk assessments, guidance on screening strategies, and support in making informed decisions regarding preventive measures, including prophylactic surgery,” says Dr Kanuj Malik, Sr. Consultant-Surgical Oncology, Yatharth Hospitals.

While current diagnostic definitions of attention-deficit hyperactivity disorder (ADHD) are relatively new, the general condition has been identified by clinicians under a variety of names for centuries. Recent genetic studies have revealed the condition to be highly heritable, meaning the majority of those with the condition have genetically inherited it from their parents.

Depending on diagnostic criteria, anywhere from two to 16% of children can be classified as having ADHD. In fact, increasing rates of diagnosis over recent years have led to some clinicians arguing the condition is overdiagnosed.

What is relatively clear, however, is that the behavioural characteristics that underpin ADHD have been genetically present in human populations for potentially quite a long time. And that has led some researchers to wonder what the condition’s evolutionary benefits could be.

Year 2020 face_with_colon_three

There’s a new disease-detecting technology in the lab of Sanjiv “Sam” Gambhir, MD PhD, and its No. 1 source of data is number one. And number two.

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The team found that administering an HDAC inhibitor orally effectively halted sperm production and fertility in mice while preserving the sex drive.

Researchers are grappling with the challenge of developing effective male contraceptives as existing attempts to block sperm production, maturation, or fertilization have fallen short, either offering incomplete protection or leading to severe side effects.

Now, a team of researchers at the Salk Institute in the US has developed a novel approach to halting sperm production, which is both non-hormonal and reversible, marking a significant advancement in male contraception research.

Continue reading “Scientists unlock key to reversible, non-hormonal male birth control” »

Finding a cure for cancer is a motivating force for many an aspiring doctor. Few get anywhere close to pursuing that goal. Among them is Dr. Catherine Wu, an oncologist at Boston’s Dana-Farber Cancer Institute, who has had cancer in her sights since second grade, when a teacher asked her and her classmates what they wanted to be when they grew up.

“That’s when there was a lot of coverage on the war on cancer,” she said. “I think I drew a picture of a cloud, probably a rainbow and drew a picture of (me) like, making a cure for cancer or something like that.”

That childhood scribble was prescient. Wu’s research has laid the scientific foundation for the development of cancer vaccines tailored to the genetic makeup of an individual’s tumor. It’s a strategy looking increasingly promising for some hard-to-treat cancers such as melanoma and pancreatic cancer, according to the results of early-stage trials, and may ultimately be widely applicable to many of the 200 or so forms of cancer.

New models predict biological age more robustly by pinpointing different age-related changes and distinguishing between cause and effect.