Lifeboat Foundation

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.

Continue reading “‘Smart toilet’ monitors for signs of disease” »

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.

As part of a nationwide collaboration, Broad Clinical Labs researchers have optimized 10 polygenic scores for use in clinical research as part of a study on how to implement genetic risk prediction for patients.

Neuroresearchers at Macquarie University in Australia say they have developed a single-dose genetic medicine that has halted the progression of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in mice. The team, which believes its approach may even offer the potential to reverse some of the effects of the fatal diseases, thinks it may also hold opportunities for treating more common forms of dementia, such as Alzheimer’s disease.

The new treatment, dubbed CTx1000, targets pathological build-ups of the protein TDP-43 in cells in the brain and spinal cord, which has been associated with ALS, FTD, and other forms of dementia. The scientists, led by Lars Ittner, PhD, hope to see CTx1000 begin human clinical trials in as little as two years. Their study “Targeting 14–3-3?-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice” appears in Neuron.

“Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by cytoplasmic deposition of the nuclear TAR-binding protein 43 (TDP-43). Although cytoplasmic re-localization of TDP-43 is a key event in the pathogenesis of ALS/FTD, the underlying mechanisms remain unknown. Here, we identified a non-canonical interaction between 14–3-3θ and TDP-43, which regulates nuclear-cytoplasmic shuttling,” wrote the investigators.