What is a Genetic Consultation

Originally posted on RSGC:
Finding and visiting a genetic counselor or other genetics professional Source (the U.S.): Please choose from the following list of questions for information about meeting with a genetics professional (such as a medical geneticist or genetic counselor). On this page: What is a genetic consultation? Why might someone have a genetic…

Ancient DNA pinpoints Paleolithic liaison in Europe

Originally posted on Personal blog:
A young man who lived in Romania 37,000 to 42,000 years inherited as much as one-tenth of his DNA from a Neandertal ancestor, according to a new study of ancient DNA. Ever since spelunkers found a robust jawbone in a cave in Romania in 2002, some paleoanthropologists have thought that…

New complimentary webinar from Science

This webinar is the third in a series focusing on the cancer pathways that support tumor development, the emerging research in identifying and targeting these pathways, and innovations in the development of increasingly effective cancer therapy options. Recent advances in our understanding of cancer have revealed that the disease cannot be understood through simple analysis of genetic mutations within the cancerous cells. Instead, tumors should be considered as complex tissues in which the cancer cells communicate directly and indirectly with the surrounding cellular microenvironment and evolve traits that promote their own survival. In this webinar we will explore how cancer cells are able to reprogram their metabolic pathways to enable energy production under conditions that are disabling to most normal cells. Of particular interest are how tumor-specific metabolic changes promote oncogenic progression and how these changes can be exploited to develop more effective treatment options.

Nevii pigmentari sau aluniţele

In mare parte aparitia alunitelor este programata genetic. Singurul factor asupra caruia putem interveni ar fi cantitatea de UV, care ajunge la nivelul pielii. Acest lucru nu inseamna ca nu trebuie sa mai stam la soare, ci doar sa respectem anumite reguli: nu va expuneti la soare intre orele 10.30- 17.00 folositi pe parcursul verii…

Panorama – Non-invasive Prenatal Test (NIPT)

Non-invasive prenatal genetic screening: an interview with Dr. Charles Strom, Senior Medical Director, Quest Diagnostics What syndromes can be screened for using non-invasive prenatal genetic testing? A new category of non-invasive genetic screening tests is gaining a great deal of interest in the medical field – including from Quest Diagnostics — for its potential to…

Povestea copilului născut cu scopul de a-și salva fratele

Un copil din Marea Britanie a fost adus pe lume de părinții săi, pentru a-l salva pe fratele său grav bolnav. Află o poveste care a stârnit numeroase controverse în Anglia. Charlie Whitaker s-a născut cu o boală rară, care îi punea viața în pericol: anemia Diamond Blackfan, o formă rară, ce nu îi permitea…

DIAMOND-BLACKFAN ANEMIA 1; DBA1

#105650 DIAMOND-BLACKFAN ANEMIA 1; DBA1 Alternative titles; symbols DBA BLACKFAN-DIAMOND SYNDROME; BDS ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC RED CELL APLASIA, PURE, HEREDITARY AREGENERATIVE ANEMIA, CHRONIC CONGENITAL ERYTHROGENESIS IMPERFECTA AASE-SMITH SYNDROME II AASE SYNDROME TEXT A number sign (#) is used with this entry because Diamond-Blackfan anemia-1 (DBA1) is caused…

Gender and Genetics

Genetic Components of Sex and Gender Humans are born with 46 chromosomes in 23 pairs. The X and Y chromosomes determine a person’s sex. Most women are 46XX and most men are 46XY. Research suggests, however, that in a few births per thousand some individuals will be born with a single sex chromosome (45X or…

Premiul Nobel pentru Medicina 2014

Originally posted on Personal blog:
Cercetatorii John O’Keefe, May-Britt Moser si Edvard Moser au fost recompensati, luni, cu premiul Nobel pentru medicina pe 2014, Cercetatorii John O’Keefe (Statele Unite), May-Britt Moser (Norvegia) si Edvard Moser (Norvegia) au fost recompensati cu premiul Nobel pentru medicina pe 2014, pentru “cercetari asupra celulelor care constituie un sistem de…

O DESCOPERIRE REVOLUTIONARA a medicilor romani de la Fundeni a ajuns in prestigioasa revista „Nature”

O echipă de medici de la Institutul Fundeni, în colaborare cu cercetători de la Universitatea din Singapore au făcut o descoperire care va revoluţiona metodele de diagnostic şi tratamentul cancerului la ficat. Reuşita lor se regăseşte în numărul de noiembrie al prestigioasei reviste „Nature Genetics”. Irinel Popescu, preşedintele Academiei de Ştiinţe Medicale, a anunţat astăzi…