Cancros provocados por desordem Genética?

https://www.independent.co.uk/news/health/iron-blood-liver-cancer-old-age-gp-diagnosis-haemochromatosis-arthritis-missed-celtic-curse-bmj-a8731186.html

Citando:
"A “stealth disease” which causes iron to build up to toxic levels may be responsible for thousands of cancers and disabling joint problems written off as part of ageing, a British study has found.

Hereditary haemochromatosis is one of the most common genetic disorders among people of European descent but it had previously only been thought to harm around 1 per cent of people carrying the mutation."

Prevenção de surdez (edição genética)

https://www.theguardian.com/science/2017/dec/20/breakthrough-for-genetic-hearing-loss-as-gene-editing-prevents-deafness-in-mice

Citando:
"Deafness has been prevented in mice using gene editing for the first time, in an advance that could transform future treatment of genetic hearing loss.

The study found that a single injection of a gene editing cocktail prevented progressive deafness in baby animals that were destined to lose their hearing.

“We hope that the work will one day inform the development of a cure for certain forms of genetic deafness in people,” said Prof David Liu, who led the work at Harvard University and MIT.

Nearly half of all cases of deafness have a genetic root, but current treatment options are limited. However, the advent of new high-precision gene editing tools such as Crispr has raised the prospect of a new class of therapies that target the underlying problem."

(...)

"The study, published in the journal Nature, focused on a mutation in a gene called Tmc1, a single wrong letter in the genetic code, that causes the loss of the inner ear’s hair cells over time.

The delicate hairs, which sit in a spiral-shaped organ called the cochlea, vibrate in response to sound waves. Nerve cells pick up the physical motion and transmit it to the brain, where it is perceived as sound."

Investigação sobre a LHON na UC

http://www.dnoticias.pt/pais/projecto-de-investigacao-da-universidade-de-coimbra-procura-causas-de-doenca-rara-que-leva-a-cegueira-LL2508872

Citando:
"compreensão da Neuropatia Óptica Hereditária de Leber (LHON), uma doença rara, hereditária, incapacitante e que provoca uma perda de visão rápida e, na maior parte dos casos, permanente em jovens ou adultos, afetando gravemente a sua qualidade de vida. “O nosso objetivo é, nos próximos dois anos, oferecer, sem custos para os hospitais e para os doentes, um teste genético completo, que permita perceber, nestas atrofias óticas nos doentes portugueses, qual é a causa da doença”, explica Manuela Grazina, docente da Faculdade de Medicina da Universidade de Coimbra (UC) e responsável pelo Laboratório de Bioquímica Genética do Centro de Neurociência e Biologia Celular da UC."

Mutação genética leva a insensibilidade à dor

E a sua compreensão pode ajudar ao problema oposto" (dor crónica):
http://www.newsweek.com/rare-genetic-mutation-causes-entire-family-feel-no-pain-750495

Citação:
"Their mysterious condition—called congenital analgesia— has puzzled scientists, but now a team of European researchers believe they’re one step closer to understanding the underlying mechanism."
(...)
"In their study, published in the journal Brain, the researchers found that mice with genetically altered ZFHX2 genes also had altered pain thresholds of hot and cold. However, other characteristics seen in the Marsili family—such as low sensitivity to pain—were not observed in the mouse model. Despite more research being needed, the team’s new findings could help propel research for chronic pain—a problem which affects more than 25 million Americans, according to the National Institutes of Health."

Técnica (in vitro) para reduzir o risco de passar aos filhos a "Mitocondrial Disease" testada com sucesso

http://m.ndtv.com/health/ivf-technique-that-cuts-genetic-disease-risk-found-safe-1418115


"(...) the new technique designed to reduce the risk of mothers passing on mitochondrial disease to their children, which is debilitating and often life-limiting.

Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fail to produce enough energy for cell or organ function, according to MitoAction, a US-based organisation working to improve quality of life for adults and children affected by the disease."