Landmark Gene Therapy Study Shows Safety for Children

    A recent international study followed 62 children treated between 2012 and 2019 for the rare immune-deficiency condition ADA‑SCID, using ex-vivo stem cell lentiviral gene therapy. After a mean follow-up of 7.5 years, the treated children had a 100% survival rate, and over 95% were considered cured. This research was conducted by University College London.

    This is a remarkable outcome because many gene therapies for rare childhood conditions face challenges with durability, immune reactions, or long-term safety. From a genetics perspective, it highlights how delivering a corrected gene to hematopoietic stem cells can provide a durable therapeutic approach.

    The study also raises several questions and implications. How will these long-term safety data influence regulatory approval and access for other rare-disease gene therapies? What kind of genetic monitoring will be necessary as these children grow into adulthood? In our genetics course context, this research demonstrates how modern gene therapies can provide lasting, life-changing results for pediatric patients, bridging the gap between experimental science and clinical care.

    In summary, while gene therapy often feels like a futuristic and unrealistic promise, this study demonstrates concrete, long-lasting benefits for children. These results make the topic both timely and meaningful for genetics, medicine, and public communication.

Sources

University College London. (2025, October). Landmark gene therapy study shows safety in children. UCL News. https://www.ucl.ac.uk/news/2025/oct/landmark-gene-therapy-study-shows-safety-children

Poletti, M., & Mavilio, F. (2021). Designing lentiviral vectors for gene therapy of genetic diseases. PMC. https://pmc.ncbi.nlm.nih.gov/articles/PMC8402868/

The Length of Genes Are Related to Aging

 As people age it was shown that their longer genes are no longer expressed. This research looked at worms, mice, humans, and in particular humans with neurodegenerative diseases. Most research prior has tried to find specific genes or patterns that cause aging, however it was truly about the lengths of the genes. The longer genes are more chance of being damaged. The study focused on aging and neurodegenerative diseases because neural cells are known to be long and slow at dividing. Many of the genes that are associated with diseases like Alzheimers are very long so they are more susceptible of being damaged which could cause these neurodegenerative diseases. Future studies still need to be done in order to find the cause of this phenomenon.  

In my opinion, I think this is a great find in research and I believe with further studies this could help a lot of people with neurodegenerative diseases. Neurodegenerative diseases affect many people as they age and there is still not much known about why and I believe this step of figuring out that aging is related to the length of genes rather than specific genes is a start.

Article Link: https://www.sciencedaily.com/releases/2024/03/240321155352.htm

Additional Link: https://www.news-medical.net/news/20240322/Aging-linked-to-length-of-genes-study-suggests.aspx

The Doorbell to the cell (GPCRs)

G-protein-coupled receptors (GPCRs), in humans we have over 8000 of them. Located on the membrane in eukaryotes, these receptors are like a mailbox for different inputs of proteins, sugars, fats (lipids), and light energy. (2) They take in information from either other cells and convey them or information of nutrients. (1) This is a very simplified explanation of that they are and what they do (watered down). These receptors are becoming more important to medicine and pharmaceuticals with being able to understand their function and "how some researchers believe that 1/3 to 1/2 of drugs bind to GPCRs. " (1)

         "It's a huge field of active research in academia and industry because if we can figure out precisely        how GPCRs work, then we can more easily design drugs to change their behavior and thereby                  control pain, hunger, and more," said coauthor Christopher Neale, a researcher with the Center for            Nonlinear Studies at Los Alamos National Laboratory. (2)

The Researchers have found that their is a doorbell structure that communicates to the cell of important nearby molecules. They believe that understanding this structure and the function of it will inevitably help in producing better medication. (1),(2),(3)

REFERENCES
(1) https://www.nature.com/scitable/topicpage/gpcr-14047471
(2) https://www.sciencedaily.com/releases/2018/04/180412102922.htm
(3) https://www.nature.com/articles/s41467-018-03314-9

New Look Into the "Wellderly's" Genome

A  new medical study emerging from the journal Cell is beginning to identify genes associated with "healthy-aging" and comparing it to genomes of those tested because of their long life-spans. The cohort is known as the "Wellderly's," a group of <80 year old males and females absent of chronic illnesses and use of chronic medications (excluding basal cell and squamous cell carcinoma). At the time of publication, a total of 1,354 individuals from 80 to 105 years old had been included in the cohort and all had undergone Whole Genome Sequencing.


Photo: Researchers have uncovered some of the secrets of healthy aging with their new gene study. Source: medicalnewstoday.com

This study is the first of it's kind because it focuses on longevity and health as opposed to longevity and disease. The purpose is to discover genes that nature has provided us that protect against age related diseases such as Parkinson's, Alzheimer's and coronary heart disease. The Wellderly cohort as compared to a control group had lower risks of Alzheimer's and coronary heart disease, two major diseases linked with age-related illness and death.

So far, a variant in the COL25A1 gene has been linked to protection against Alzheimer's disease. Alzheimer's is largely contributed to a build-up of amyloid beta plaques in the brain. This variant in the gene appears to have some protection against amyloid beta plaque build-up. It is my belief that preserved health into old-age will have a lot to do with the body's ability to withstand oxidative stress and that the genes they continue to find will protect the body against it.

Greater Height, Better Heart According to Genetics

          Did you know that for every 2.5 inches shorter you are than someone else, you have a 13.5% higher risk of developing coronary heart disease? Yes! Height can impact your risk for developing the disease. Here is a specific example:

          Fred, standing at a whopping 5'5'', is friends with Chris, whose height is 6'6''. Because of Fred's much smaller stature, he has a 70.2% higher risk of developing heart disease than Chris does. Now you're probably thinking, why does height have such a significant impact on risk for the disease?

          The New England Journal of Medicine recently released its study, using data collected from 200,000 individuals, on the linkage between height and risk of developing coronary heart disease (CHD) throughout a person's life. One of the researchers stated, according to USA Today, that "the more height-increasing genetic variants that you carry, the lower your risk of coronary heart disease". TIME released an article in 2014 announcing the discovery of more genes linked to height determination, and stated that "as much as 80% of the variance in height among people is due to their DNA." As science advances, genetics is beginning to play a much larger role in linkage to health risks.

          However, the Journal's study has received skepticism from scientists around the nation. The majority of the study's participants were male, and so the results can only be confidently applied to male individuals. Because of their genes, it seems that short males are out of luck. USA Today, though, offers hope for shorter males, stating that they are often found to have significantly longer lifespans in general.

          I personally am skeptical of the results from the New England Journal of Medicine's study. Although a large sample size (200,000) was used, the uneven variation in gender of the participants makes me question whether the results were skewed. If the results are accurate, I'd be surprised because, when thinking of CHD, I often think of risk factors like overeating and little exercise, rather than physical height of an individual.

Primary Care Pediatricians Avoid Genetics Examinations in Patient Care

A study published in Genetics in Medicine shows many pediatricians have a difficult time using genetics in their routine care. After research in multiple specialties, they have concluded the greatest obstacle is the doctors’ general ignorance in the field of genetic medicine. This is not surprising due to the exponential daily advancement in genetic information and technology. To solve this crucial situation, the best way is to educate primary physicians with a helpful guideline and educational system.  

This article stood out to me because I’m currently in the pre-medical concentration. I have heard stories of incompetent doctors and this news confirms my doubts. I understand physicians have extremely busy schedule; however, it is also important to keep up with recent research and discoveries to better their preventive and care practice. A doctor who never stops learning is one I will strive to become. 

Source article : http://www.sciencedaily.com/releases/2014/09/140911151653.htm

Secondary article: http://www.sciencedaily.com/releases/2013/11/131119130835.htm

Stratified Medicine to Improve UK National Health Service

Stratified Medicine, also known as Personalized Medicine, is medicine specifically tailored for an individual.  The medicine works off the genome sequence of individuals (being everyone has a unique genome) allowing for more efficient drugs with fewer side effects, if any.  Doctors can use a person’s genome to determine diseases caused by mutations.  In addition to being able to diagnose a patient, genomes have the potential to inform doctors what drugs work.  It is with this information Stratified Medicine gets to shine.  Knowing how drugs will work on person will increase the chances of finding the right drug sooner and overall increase the number of lives saved.

                  

A survey of UK health professionals shows increased interest in the use of non-cancer stratified medicine for.  Patients have also shown interest, believing it gives patients access to treatments they otherwise wouldn't have.  The medicine has already made significant impact on the UK’s National Health Service, without being used for cancer.  The potential of using stratified medicine in conjunction with advance cancer treatments is vast.  However, there are some problems with implementing stratified medicine as the norm.  While there is an increased interest among health professionals, they agree the health system would have to change to support the use of stratified medicine.  The change might be slow but the use of stratified medicine could advance the medical world further.

              

                  

The UK has a very special opportunity to advance their health care system, and set the example for the rest of the world.  I personally hope they can make the change to incorporate stratified medicine.  It will allow the world to see how useful (or useless) it could be and see if it is worth utilizing.  I see the use of these types of drugs to be the advancement of the medical world, with large potential to save numerous lives.

Article:  http://www.medicalnewstoday.com/releases/285839.php 

Related Articles:  http://biomed.science.ulster.ac.uk/stratifiedmed/-What-is-Stratified-Medicine-.html  and  http://en.wikipedia.org/wiki/Personalized_medicine

Genetically Modified Monkeys

According to a Russia Today article the first set of genetically modified monkeys were created through a method called Crispr/Cas9. The monkeys were born in a lab in China, and the process was not easy. In 180 embryos, 83 were able to be placed in female macaques, and of those only 10 resulted in pregnancies. All of which were unable to produce living offspring, except for one, which resulted in 2 baby monkeys with simultaneous mutations in two genes. The hopes of this journey is to be able to do research on human disease and improve upon the health of mankind.

Personally, while I do agree with modifying genetics in animals in order to better them, I do not like it when animals are used as test dummies. Being a pre-veterinary student, I have a great deal of appreciation for not only animal life, but the quality of animal life. If these monkeys were created with the hopes of preventing a primate disease, I would have no qualms with this. However, it is clearly stated in the article that these monkeys will be used for testing when they are older in order to better the human race. While I do not put animal life at a higher value of the human race, I cannot support a cause that deliberately treats animals like pawns or objects. There comes a point where we begin to cross a line, and this article from PBS talks a little about just that. My wish is that one day we will be able to strike a balance between humans, flora, and fauna, that can better us all and not just the human race.

'Designer Sperm' Inserts Custom Genes Into Offspring

The introduction of new genetic material into an organism via sperm results in the activity of the inserted genes in the resulting mice embryos.  Indicating that the new genetic material is inherited, the inserted genes were present and functioned in all of the three generations of mice that were tested.  If this process is successful in humans, it would provide major advancement in genetic medicine.  Diseases and disorders can be more effectively treated, or potentially cured at the genetic level.  In addition, human organ regeneration may be possible.
Link to the article
The prospect of preventing or curing illness at the genetic level certainly is attractive.  Many good treatments can result from the research presented in this FASEB Journal article.  However, when treating organisms, especially humans at the genetic level, one must be very cautious.  Any mishap will likely be permanent.  Also, this process may be positively used in preventing diseases and disorders, but it may lead to purely superficial gene selections in humans; causing potential social issues.