Researchers announce first preimplantation genetic diagnosis for a rare inherited disease

Researchers in France have announced the first successful use of preimplantation genetic diagnosis to detect a rare inherited disorder called Ornithine Transcarbamylase (OTCD).

At present, the test can only be used on one family for whom it was devised, but the researchers believe their work may enable them to develop a PGD test for OTCD in other families in the future.

OTCD is a distressing disease linked to the X chromosome, which usually kills boys soon after birth. It occurs in approximately one in 70,000 births. Babies with OTCD have a metabolism which is unable to break down protein effectively. This results in hyperammonemia (an excess of ammonia) which causes death. If detected and treated immediately after birth, a baby may live for longer, but death can occur unexpectedly at any time.

The severity of the symptoms in girls carrying a deficient OTC gene varies widely from nothing to death in the neonatal period. Other symptoms include episodes of extreme irritability, vomiting and lethargy, protein avoidance, ataxia, delayed growth and developmental delay, seizures and comas.

Dr Pierre Ray, from the Hpital Necker Enfants Malades in Paris, told the European Society for Human Reproduction and Embryology conference in Bologna, Italy, today (Monday 26 June) how one family sought help from geneticists after the mother was found to be an OTCD carrier. Their first child, a boy, had died shortly after birth; a prenatal test on the next pregnancy found the male embryo was also affected and the pregnancy was terminated. Their third baby, a girl, died shortly after birth, at which point the parents felt unable to face another prenatal diagnosis. PGD was their last hope.

PGD involves obtaining embryos by in vitro fertilisation (IVF) and then analysing them for genetic disorders. Only healthy embryos are transferred to the mother's womb.

Dr Ray said: "Diagnosis for OTCD is difficult because of its rarity and because new muta

Contact: Margaret Willson
European Society for Human Reproduction and Embryology

Page: 1 2

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Researchers find color sensitive atomic switch in bacteria
3. Researchers identify protein promoting vascular tumor growth
4. Researchers devise potent new tools to curb ivory poaching
5. Researchers create nanotubes that change colors, form nanocarpet and kill bacteria
6. Researchers ID chlorophyll-regulating gene
7. Researchers develop fast track way to discover how cells are regulated
8. Researchers identify distinctive signature for metastatic prostate cancer
9. Researchers report new gene test for isolated cleft lip and palate
10. Researchers discover why mutant gene causes colon cancer
11. Researchers identify the genomes controlling elements

Post Your Comments:

(Date:7/10/2020)... ... 08, 2020 , ... Overcoming Comparability Issues in Regenerative Medicines ... Wednesday, July 22, 2020 • 1:30 p.m.-3:00 p.m. EDT, https://www.fdanews.com/cellandgenetherapy , ... way to complete one? Will the study comply with all FDA requirements? Understanding ...
(Date:7/2/2020)... FREDERICK, Md. (PRWEB) , ... ... ... company, Molecular Biology Systems, B.V. (MBS) has announced a publication detailing the ... a one-step reverse transcription polymerase chain reaction (RT-PCR) in 16 minutes. The ...
(Date:6/28/2020)... Fla. (PRWEB) , ... June 25, 2020 , ... In ... focus on innovations in accelerated Point of Care Testing solutions (POCT). Check local listings ... Samples are collected at medical offices and are shipped to labs throughout the country. ...
Breaking Biology News(10 mins):
(Date:7/10/2020)... ... July 09, 2020 , ... ... of Technology (MIT) has expanded the company’s exclusive license to include clinical ... the point-of-care diagnostic market, focusing initially on the SARS-CoV-2 biosensor. CANARY’s™ ...
(Date:7/10/2020)... ... July 09, 2020 , ... Sentien ... announced the hiring of Allen R. Nissenson, M.D., F.A.C.P., as its Chief Medical ... development of Sentien’s lead product, SBI-101. Dr. Nissenson serves as an Emeritus ...
(Date:7/7/2020)... ... July 06, 2020 , ... Bio-IT World has announced ... Bristol-Myers Squibb, the University of Chicago, Massachusetts General Hospital, Mission: Cure, and the ... awards program, highlighting outstanding examples of how technology innovations and strategic initiatives can ...
(Date:7/1/2020)... ... June 29, 2020 , ... The ... purchasing contracts to its membership, recently named BioFit Engineered Products an ... opportunity to purchase ergonomic seating, cafeteria tables, book trucks and carts at discounted ...
Breaking Biology Technology:
Cached News: